Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Neuroblastoma |
|
Elevated urinary catecholamine level |
ORPHA:635 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Severe Primary Trimethylaminuria |
|
Trimethylaminuria |
ORPHA:468726 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu... |
ORPHA:411543 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m... |
OMIM:602114 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... |
OMIM:616026 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir... |
OMIM:601678 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Cryptorchidism, Hypercalciuria, Micropenis |
OMIM:614732 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Threoninemia |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... |
ORPHA:284426 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational a... |
OMIM:241200 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ... |
OMIM:300554 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... |
OMIM:241530 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Elevated urinary 7-biopterin level, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp... |
OMIM:241500 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy... |
OMIM:268700 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hyperparathyroidism 4 |
|
Osteopenia, Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria |
OMIM:145980 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Hyperbeta-alaninemia |
OMIM:237400 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... |
ORPHA:488627 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre... |
OMIM:610600 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Galactosemia Ii |
|
Galactosuria, Hypergalactosemia |
OMIM:230200 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss |
ORPHA:69077 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Nephrolithiasis, Osteolysis, Abnormal adipose tissu... |
ORPHA:93160 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperuricemia, Hypercholes... |
ORPHA:77296 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Hypokalemia, Aminoaciduria,... |
ORPHA:213 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Low alkaline... |
OMIM:241510 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... |
OMIM:145001 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Small for gestational age, Cryptorchidism, Elbow flexion contractu... |
OMIM:618440 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru... |
ORPHA:54057 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hyperuricemia, Uric acid nephrol... |
OMIM:300661 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Functional abnormality of the blad... |
ORPHA:223 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypertension, Hypocalciuria, I... |
OMIM:612780 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis |
OMIM:611590 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:125800 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive |
OMIM:304800 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... |
OMIM:263800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:203400 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglut... |
OMIM:246450 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H... |
OMIM:232200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive |
OMIM:264350 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice... |
ORPHA:411634 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria... |
ORPHA:99845 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556030 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... |
OMIM:264700 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Juvenile Paget Disease |
|
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... |
ORPHA:2801 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale... |
OMIM:614736 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... |
OMIM:617872 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria |
ORPHA:251274 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Elevated circ... |
OMIM:620366 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Jaundice, Increased total bilirubin |
ORPHA:890 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... |
OMIM:615993 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... |
OMIM:208085 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit... |
ORPHA:143 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, H... |
OMIM:232220 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight loss, Increased circulating cortisol l... |
ORPHA:97289 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Cystinosis, Nephropathic |
|
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... |
OMIM:219800 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g... |
OMIM:232240 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Osteoporosis, Nephrolit... |
ORPHA:99880 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis, Ch... |
ORPHA:2591 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys... |
ORPHA:85447 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... |
ORPHA:276580 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Ab... |
OMIM:616733 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... |
OMIM:602080 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia |
OMIM:238750 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia |
OMIM:615026 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria |
OMIM:176200 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... |
ORPHA:276556 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... |
ORPHA:79147 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:557003 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level |
ORPHA:2056 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... |
OMIM:617913 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline phosphatase of ... |
OMIM:615923 |
Orthostatic Intolerance |
|
Elevated urinary norepinephrine level |
OMIM:604715 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis |
ORPHA:500533 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis |
OMIM:611087 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Renal sal... |
ORPHA:95409 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... |
ORPHA:276575 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad... |
ORPHA:29073 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad... |
OMIM:612462 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... |
ORPHA:84081 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Decr... |
ORPHA:231580 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis |
ORPHA:182050 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Macroorchidism, Osteomalacia, Monostotic fibr... |
ORPHA:562 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... |
OMIM:614034 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:620138 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Hype... |
ORPHA:369837 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypercalcemia, Hyperkalemi... |
ORPHA:199299 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Lacticaciduria, Methylmalonic aciduria, Hyperglycinemia, Failure to thrive, Hypertau... |
OMIM:245400 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma, Weight loss |
ORPHA:654 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilir... |
OMIM:620010 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Truncal obesi... |
OMIM:203800 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Low urinary cyclic AMP respo... |
OMIM:103580 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Polyphagia, N... |
OMIM:606407 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Stage 5 chronic kidn... |
ORPHA:79259 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Elevated circulating C-reactive protein concentration, Elevated circulating c... |
ORPHA:91500 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po... |
ORPHA:71526 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis |
ORPHA:280062 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency |
ORPHA:254857 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Elevated circul... |
ORPHA:247691 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Portal hypertension, Tubulointerstitial fibrosis |
OMIM:232500 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Primary testicular failure, Hypercalcemia, Re... |
ORPHA:85138 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocal... |
ORPHA:36913 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Mult... |
OMIM:263200 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
3-Methylglutaconic aciduria |
OMIM:614053 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria |
OMIM:176090 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration |
OMIM:174810 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, ... |
ORPHA:95717 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension |
ORPHA:1192 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia |
OMIM:617885 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension |
ORPHA:820 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, L... |
ORPHA:79083 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis |
ORPHA:375 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria |
ORPHA:3111 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia |
OMIM:261750 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera... |
OMIM:618156 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atr... |
ORPHA:369929 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Renal insufficiency, Proteinur... |
OMIM:619487 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
Pheochromocytoma |
|
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... |
ORPHA:534 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Renal sal... |
ORPHA:361 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormal localization of kidney |
ORPHA:446 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Fever, Proteinuria, Elevated circulating creatine kinase concentration, Urinary inc... |
ORPHA:94093 |
Beta-Ketothiolase Deficiency |
|
Fever, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia |
ORPHA:134 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc... |
ORPHA:79303 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Abnormal renal morphology, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Hydronephrosis, Increased bl... |
OMIM:154230 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinem... |
ORPHA:90041 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... |
OMIM:109130 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Galactosemia I |
|
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Polyphagia, Obesity |
OMIM:614962 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... |
OMIM:191900 |
Burkitt Lymphoma |
|
Hyperuricemia |
ORPHA:543 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Menkes Disease |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis, Hypothermia |
OMIM:309400 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Renal insufficiency, Micropenis |
OMIM:613861 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... |
ORPHA:188 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hypothermia, Elevated circulating acylcarnitine concentration, Oliguria, H... |
ORPHA:159 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia |
OMIM:173900 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Failure to thrive, Hypertension |
OMIM:231690 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, H... |
ORPHA:508 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ketonuria, Hypothermia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, Hyperuricemia |
ORPHA:20 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Methylmalonic acidemia, Homocystinuria, Methylmalonic aciduria, Hyperhomocystinemia |
OMIM:309541 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Cryptorchidi... |
ORPHA:90791 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... |
ORPHA:324525 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Abnormal circula... |
ORPHA:95716 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia |
ORPHA:3129 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... |
ORPHA:79327 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Proteinuria, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Rena... |
OMIM:212065 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Inguinal hernia, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney... |
OMIM:218330 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Hypocalcemia |
ORPHA:2238 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Joint laxity, Elevated urinary catecholamine level, Hypercal... |
ORPHA:653 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... |
ORPHA:79101 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... |
ORPHA:447 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Oligozoos... |
OMIM:300200 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale... |
ORPHA:168558 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,... |
ORPHA:69076 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ... |
OMIM:619644 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre... |
ORPHA:26793 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Meningococcal Meningitis |
|
Fever, Renal insufficiency, Stiff neck, Hypothermia, Elevated circulating C-reactive protein conc... |
ORPHA:33475 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com... |
OMIM:557000 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale... |
ORPHA:289548 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... |
OMIM:613159 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac... |
OMIM:614859 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Pancreatic Cancer |
|
Increased level of L-fucose in urine |
OMIM:260350 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... |
ORPHA:542323 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Increased urinary glycerol, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hypercalcemia, Testicular neoplasm, Osteomalacia, Fibrous dysplasia of the bone... |
ORPHA:249 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine concentration |
ORPHA:51208 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Hypercalcemia, Obesity |
ORPHA:96168 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia |
OMIM:614654 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:617303 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Homocystinuria, Hyperhomocystinemia |
OMIM:250940 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:616809 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:619658 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic ... |
OMIM:241410 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Arth... |
OMIM:259775 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:342 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Dysphagia, Weight loss |
ORPHA:930 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Myasthenic Syndrome, Congenital, 22 |
|
Cystinuria |
OMIM:616224 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 chronic kidney disease, F... |
ORPHA:1830 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis |
ORPHA:53715 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Foot joint contracture, Proteinuria, Scarring, Cryptorchidism, Increased blo... |
ORPHA:90321 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Decreased urinary sulfate, Elevated circulating creatine kinase concentration, ... |
OMIM:272300 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Hypertension, Acu... |
OMIM:618886 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine, Elev... |
OMIM:271980 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ... |
ORPHA:36234 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia |
OMIM:614963 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Delayed epiphyseal ossification, Umbilical hernia, Absent... |
ORPHA:226313 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma |
ORPHA:52022 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... |
ORPHA:699 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614870 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Delayed proximal femoral epiphyseal ossification, Umbilical herni... |
ORPHA:90674 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis |
OMIM:618005 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Temple Syndrome |
|
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia |
ORPHA:254516 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalaninemia, Failure to thrive |
OMIM:618329 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:79312 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Elevat... |
ORPHA:263455 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arte... |
OMIM:617053 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis |
OMIM:612692 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec... |
ORPHA:96180 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Cryptorchidism, Hy... |
ORPHA:2323 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Failure to thrive |
OMIM:602579 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Weight loss, Multiple lipomas, Increased circula... |
ORPHA:913 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary... |
ORPHA:79444 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Abnormality of the kidney, Renal cyst, Obesity |
OMIM:615982 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... |
ORPHA:209919 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis |
ORPHA:2833 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... |
ORPHA:275761 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia |
ORPHA:403 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... |
ORPHA:91138 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Generalized aminoaciduria, Hyp... |
OMIM:251880 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Reduced bone mineral density, Multip... |
ORPHA:652 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti... |
OMIM:236270 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P... |
ORPHA:220393 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Analbuminemia |
|
Lipodystrophy, Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentra... |
OMIM:616000 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Micropenis, Hypocholesterolemia |
OMIM:618810 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:2377 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis |
OMIM:240300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... |
ORPHA:139402 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c... |
ORPHA:85443 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Hypertension |
ORPHA:110 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... |
ORPHA:231625 |
Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Nephrob... |
OMIM:612469 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Elevated circulating alpha-fetoprotein concen... |
ORPHA:116 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
Gracile Bone Dysplasia |
|
Decreased skull ossification, Micropenis, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... |
OMIM:615547 |
Timothy Syndrome |
|
Hypocalcemia, Hypothermia |
OMIM:601005 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... |
ORPHA:79230 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic... |
ORPHA:51608 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Impulsivity, Ectopic kidney, Abnormali... |
ORPHA:3027 |
Holocarboxylase Synthetase Deficiency |
|
Anorexia, Organic aciduria, Hyperammonemia, Weight loss |
ORPHA:79242 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma |
OMIM:194072 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypoth... |
ORPHA:79282 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t... |
ORPHA:2769 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614582 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Intellectual Disability-Strabismus Syndrome |
|
Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615559 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... |
ORPHA:98895 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... |
ORPHA:71273 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abnormal bone ossification, ... |
ORPHA:79324 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Congestive heart failure, Weight loss, Polydipsia, Hydronephrosis |
ORPHA:35687 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Polyphagia, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Jaundice, Hepatitis, E... |
ORPHA:549 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Yao Syndrome |
|
Pericarditis, Nephrolithiasis, Weight loss |
OMIM:617321 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Restlessness, Dysuria, Urinary incont... |
ORPHA:79276 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn... |
OMIM:194050 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Alpha-Heavy Chain Disease |
|
Fever, Hypocalcemia |
ORPHA:100025 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weight, E... |
OMIM:614886 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis |
OMIM:260400 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... |
ORPHA:2089 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sm... |
OMIM:301056 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
OMIM:171400 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Unilateral ren... |
OMIM:614576 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis |
ORPHA:758 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:1501 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Polyphagia, Self-injurious behavior, Abnormal repetitive mann... |
ORPHA:228402 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... |
ORPHA:79443 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Babesiosis |
|
Renal insufficiency, Hepatic failure, Jaundice |
ORPHA:108 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Hematuria, Hypertension, Second degree atrioventricular block, Hypoalb... |
OMIM:617021 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Hypercalcemia, Testicular neoplasm, Increased circulating corti... |
ORPHA:276152 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Grade II vesicoureteral reflux, Weight loss, Reduced bone miner... |
OMIM:619377 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Jaundice... |
ORPHA:1667 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbu... |
OMIM:608104 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaundice, Elevated ... |
OMIM:214900 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype... |
OMIM:618120 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... |
ORPHA:289504 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Hyposthenuria, Polydipsia |
ORPHA:95513 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... |
ORPHA:904 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Renal steatosis, Hypoglycemia |
OMIM:261650 |
Congenital Enterovirus Infection |
|
Fever, Hypoalbuminemia, Hypothermia, Hyperammonemia |
ORPHA:292 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... |
OMIM:259700 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Hypothermia, Delayed proximal femoral epiphyseal ossif... |
ORPHA:90673 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... |
ORPHA:3463 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippli... |
OMIM:101800 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Long penis, ... |
ORPHA:769 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Abnormal medullary pyramid morphology |
ORPHA:79243 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine |
OMIM:301015 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn... |
ORPHA:53693 |
X-Linked Agammaglobulinemia |
|
Fever, Osteomyelitis, Weight loss, Arthritis, Hypocalcemia, Cellulitis, Failure to thrive |
ORPHA:47 |
Galactokinase Deficiency |
|
Small for gestational age, Increased level of galactitol in plasma, Increased level of galactitol... |
ORPHA:79237 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Sclerosis of skull base, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Tubulointerstitial ... |
OMIM:607944 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density |
ORPHA:1414 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Cryptorchidism, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:66628 |
Sarcoidosis |
|
Renal insufficiency, Hypercalcemia, Scarring, Bone cyst, Nephrolithiasis, Hypercalciuria, Weight ... |
ORPHA:797 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... |
ORPHA:3208 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... |
OMIM:243700 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... |
OMIM:603471 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hypospadias, Hypothermia, Flexion contracture, Methylmalonic aciduria, 3-... |
ORPHA:17 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Anorexi... |
ORPHA:3452 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67048 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Radioulnar synostosis, Multicystic kidney dysplasia |
ORPHA:3270 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Chronic kidney disease... |
OMIM:208500 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Long penis, Testicular adrenal rest tum... |
ORPHA:90795 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc... |
ORPHA:2237 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:179494 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Hartnup Disease |
|
Abnormal urinary color, Neutral hyperaminoaciduria |
ORPHA:2116 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... |
ORPHA:191 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Multi... |
ORPHA:1166 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Urinary bladder sphincter dysfunction, E... |
ORPHA:52430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ... |
OMIM:619048 |
Trisomy X |
|
Joint hyperflexibility, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoprotein... |
ORPHA:1655 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria |
OMIM:181000 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... |
ORPHA:36412 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... |
OMIM:271900 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Fa... |
OMIM:210200 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Chronic kidney dis... |
ORPHA:330015 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... |
OMIM:618493 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase co... |
ORPHA:521219 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Decreased serum zinc, Hydronephrosis, Joint laxity |
ORPHA:541423 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Pulmonary arter... |
OMIM:615474 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis |
ORPHA:2315 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, ... |
ORPHA:2169 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia |
OMIM:618775 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur... |
ORPHA:2688 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Multiple glomerular cysts, Hypothermia, Low plasma citrulline, Lacticaciduria, Hyperalanin... |
ORPHA:255210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypothermia |
OMIM:616501 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:199296 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Incr... |
OMIM:215600 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Acute kidney injury |
ORPHA:43116 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... |
OMIM:231100 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Pyomyositis |
|
Renal insufficiency, Sudden cardiac death, Weight loss |
ORPHA:764 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Micropenis, Agitation, Tachycardia |
OMIM:613870 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal stippling, Stippled calcific... |
OMIM:302960 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Hypothermia |
ORPHA:168593 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Addictive alcohol use |
ORPHA:520 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Multiple small... |
OMIM:118450 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri... |
OMIM:212138 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, M... |
OMIM:607143 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Atypical scarri... |
ORPHA:95455 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Failure to thrive |
OMIM:614739 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Gapo Syndrome |
|
Umbilical hernia, Joint hypermobility, Tubulointerstitial fibrosis |
OMIM:230740 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem... |
OMIM:615751 |
Lassa Fever |
|
Shock, Oliguria, Dysphagia |
ORPHA:99824 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Elevated circulating ri... |
ORPHA:488618 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Bone cyst, Renal cyst, Weight loss, Membranous nephropathy, Ovari... |
ORPHA:400 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Abnormal circulating lipid concentration, Osteoporosis, Hypothermia |
ORPHA:488632 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Polydip... |
ORPHA:525731 |
Primary Progressive Freezing Gait |
|
Hypertension, Restless legs, Urinary incontinence, Dysphagia |
ORPHA:75567 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Hyperaldosteronism, Familial, Type I |
|
Hypertension, Abnormality of the urinary system, Decreased circulating renin level |
OMIM:103900 |
Osteogenesis Imperfecta |
|
Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr... |
ORPHA:666 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Small for gestational age, Hypospadias, Fractured radius, Multiple prenatal fractures... |
OMIM:616897 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My... |
ORPHA:732 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Fatal Familial Insomnia |
|
Urinary retention, Dysphagia, Weight loss |
OMIM:600072 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains |
OMIM:619858 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cryptorchidism, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Ele... |
OMIM:214110 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Epiphyseal stippling, Aminoaciduria, Album... |
OMIM:214100 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Craniosynostosis, Large for gestational age, Patent ductus arteriosus,... |
ORPHA:314588 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash |
ORPHA:83313 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Failure to thrive |
ORPHA:369 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decreased liver functi... |
OMIM:614922 |
Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hypothermia |
ORPHA:226316 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension, Agitation, Truncal obesity |
OMIM:610489 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Hyperkalemia, Perineal hypospadia... |
OMIM:201810 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Dark yellow urine, Conjugated hyperbilirubinemia, Jaundice, Elevat... |
ORPHA:30391 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis, Nephrolithiasis, Obesity, Hypokalemia, Abdominal obesity |
OMIM:219090 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Hyperkalemia,... |
ORPHA:90794 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Decreased serum iron, Overweight, Flexion contracture, Failure to thrive |
ORPHA:391372 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve... |
ORPHA:66637 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a... |
ORPHA:2785 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida... |
ORPHA:572 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Failure to thrive, Polyphagia |
ORPHA:95427 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Weight loss, Hypocalcemia, Steatorrhea, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:608594 |
Occipital Horn Syndrome |
|
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... |
OMIM:304150 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methyl... |
OMIM:612073 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyperleucinemia |
OMIM:210210 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... |
ORPHA:261265 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Septic arthritis, Acute kidney injury... |
ORPHA:544482 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia, Obesity, Maternal diabetes |
ORPHA:3157 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Vipoma |
|
Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Subcutaneous lipoma |
ORPHA:97282 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
Ppoma |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615198 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Recurrent urinary tract infections, Femoral hernia, Osteomalacia, Sc... |
ORPHA:198 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Erythroderma |
ORPHA:313 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... |
ORPHA:90068 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase |
OMIM:618879 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesicoureteral ... |
OMIM:235510 |
Menkes Disease |
|
Inguinal hernia, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Hypothermia, Osteoporosis... |
ORPHA:565 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:329475 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Osteoporosis, Reduced bone mineral density, Increased susceptibility to fractures, Pr... |
ORPHA:231222 |
Joubert Syndrome 18 |
|
Joint laxity, Camptodactyly, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Somatostatinoma |
|
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97283 |
Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria... |
OMIM:614052 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... |
ORPHA:667 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Vasculitis, Weight ... |
ORPHA:397 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Hyperammonemia, Hypergl... |
OMIM:606054 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... |
OMIM:269700 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... |
ORPHA:1018 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Takayasu Arteritis |
|
Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hypertension, Cerebral ischemia, Pulmon... |
ORPHA:3287 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
D-Glyceric Aciduria |
|
Aminoaciduria, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol... |
ORPHA:14 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu... |
ORPHA:98813 |
Chronic Hiccup |
|
Abnormal eating behavior, Weight loss |
ORPHA:396 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Sickle Cell Disease |
|
Hematuria, Hypertension, Renal insufficiency |
OMIM:603903 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Weight loss, R... |
ORPHA:99885 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ol... |
ORPHA:90051 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... |
OMIM:116920 |
Arthrogryposis Multiplex Congenita 5 |
|
Medullary nephrocalcinosis |
OMIM:618947 |
Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Arthritis |
OMIM:602390 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri... |
ORPHA:160 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decre... |
ORPHA:231632 |
Renal Tubular Acidosis, Proximal |
|
Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ... |
ORPHA:31825 |
Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... |
ORPHA:550 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615424 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Spastic/hyperactive bladder, Weight loss, Agitation, Dysphagia, Orthostatic hypotens... |
ORPHA:411602 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ... |
OMIM:207900 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin... |
OMIM:262190 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Homocysti... |
OMIM:277410 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl... |
ORPHA:96179 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... |
ORPHA:324 |
Leigh Syndrome |
|
Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunct... |
ORPHA:506 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re... |
OMIM:218030 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... |
OMIM:619484 |
Marburg Hemorrhagic Fever |
|
Fever, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... |
ORPHA:99826 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Neurogenic bladder, Failure to thrive, Elevated circulating creatine kinase conce... |
OMIM:608779 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypospadias, Increased circulating corticosterone level, Bi... |
ORPHA:90793 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Hepatitis, Portal hypertension, Abnormal renal tubule morphology |
ORPHA:440713 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... |
ORPHA:99147 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Grfoma |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Alagille Syndrome |
|
Telangiectasia of the skin, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndro... |
ORPHA:52 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis |
ORPHA:293987 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Dysphagia, Weight loss |
ORPHA:2198 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Glucagonoma |
|
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97280 |
Caroli Disease |
|
Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundi... |
ORPHA:53035 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Multiple lipomas, Renal cyst |
OMIM:135150 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Flexion contracture, Hyperammone... |
ORPHA:1194 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism,... |
ORPHA:261318 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne... |
ORPHA:244242 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Recurrent hypo... |
ORPHA:79644 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Increased circulating thyroglobulin level, Sagittal craniosynostosis, Hiatus hernia, ... |
OMIM:610199 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Joint laxity, Hypospadias, Abno... |
ORPHA:821 |
Riboflavin Transporter Deficiency |
|
Hypertension, Dysphagia, Cachexia, Aggressive behavior |
ORPHA:97229 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Macroorchidism, Failure to thrive |
ORPHA:90790 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Small for gestatio... |
OMIM:613658 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hyperlipidemia, Nephrolithiasis, Increased body weight, Hyperte... |
ORPHA:189427 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Small for gestational age, Renal agenesis, Renal hypoplasia, Rena... |
OMIM:615583 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia |
OMIM:207800 |
Specific Granule Deficiency 2 |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis |
OMIM:617475 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... |
ORPHA:319213 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... |
ORPHA:209905 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... |
OMIM:616828 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Dysphagia, Pollakisuria, Hypertension, Compulsive behaviors, Hypotension, Urinary bladder sphinct... |
ORPHA:93256 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Pneumonia, Skin rash, Abnormal circulating... |
ORPHA:2298 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Failure to thrive, Elevated hemoglobin A1c, Glycosuria |
OMIM:616539 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Hypothermia, Flexion contracture, Urinary urgency, Urinary re... |
ORPHA:99027 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia |
ORPHA:85321 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Hypothermia |
OMIM:608800 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Hypospadias, Cryptorchidism, Patent ductus arteriosus, H... |
ORPHA:163979 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon... |
ORPHA:48435 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive |
OMIM:615453 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia |
OMIM:236500 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Decreased liver function, Jaundice |
OMIM:251290 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:235555 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Scarring alopecia of scalp, Flexion contracture, Neonatal epiphyse... |
ORPHA:35173 |
Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Failure to thrive |
OMIM:617140 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:122860 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Multiple renal cyst... |
OMIM:618733 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne... |
ORPHA:2552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Sagittal craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Ob... |
OMIM:201000 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El... |
ORPHA:90291 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis |
OMIM:606069 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... |
OMIM:278000 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp... |
ORPHA:79086 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss |
ORPHA:2126 |
Overlap Myositis |
|
Abnormality of the kidney, Elevated circulating creatine kinase concentration, Raynaud phenomenon... |
ORPHA:206572 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Overweight, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Abno... |
ORPHA:226307 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Joint hyperflexibility, Mucopolysacchariduria, Hypocalcemia, Abnor... |
ORPHA:175 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abdominal obesi... |
OMIM:615980 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... |
ORPHA:293173 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent... |
ORPHA:183675 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
Acute Interstitial Pneumonia |
|
Fever, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein con... |
ORPHA:79126 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal ... |
OMIM:619127 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... |
OMIM:201750 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Increased circulating NT-proBNP concentration, Restl... |
ORPHA:466677 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating alkaline phosphatase conc... |
OMIM:618580 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g... |
OMIM:261680 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Renal cell carcinoma, Palpitations, Hypertensi... |
OMIM:115310 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:214700 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Small for gestational age, Increased serum iron, Hypoalbuminemia, Galactosuria, Hype... |
OMIM:222470 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606263 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp... |
ORPHA:100078 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Abnormality of the kidney, Portal hypertension, Cholangitis, Conju... |
ORPHA:480520 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar... |
ORPHA:36426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Lacticaciduria, Tubulointerstitial ... |
OMIM:124000 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... |
ORPHA:93325 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptodactyl... |
OMIM:305620 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Dysphagia, Weight loss |
ORPHA:50251 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Micropenis |
OMIM:617402 |
Shigellosis |
|
Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abnorma... |
ORPHA:810 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Type II diabetes mellitus, Abnormal temper tantrums, Skin-picking, Mi... |
ORPHA:398079 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration |
OMIM:614749 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Flexion cont... |
OMIM:308050 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mell... |
ORPHA:398069 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
Alexander Disease |
|
Osteopenia, Failure to thrive, Hypothermia |
ORPHA:58 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615422 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Hypercholesterolemia, Elevated circulating alkaline phosphatase co... |
ORPHA:263501 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension |
ORPHA:1855 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Decreased serum iron, Hypothermia, Osteoporosis, Vesicoureteral reflux,... |
ORPHA:438213 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:486 |
Dubowitz Syndrome |
|
Cryptorchidism, Inguinal hernia, Hypospadias, Hypocholesterolemia |
OMIM:223370 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint stiffness, Increased circulating ferritin concentration, Elevated transferrin saturation, O... |
ORPHA:465508 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:605479 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia |
OMIM:615750 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of k... |
ORPHA:1988 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... |
OMIM:208000 |
Mpdu1-Cdg |
|
Elevated circulating creatine kinase concentration, Renal cortical cysts |
ORPHA:79323 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Polycystic kidney dysplasia, D... |
OMIM:263210 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis |
ORPHA:99776 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o... |
OMIM:608022 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria |
OMIM:617253 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... |
ORPHA:805 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Reduced haptoglobin level |
OMIM:105600 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Joint laxity, Hyp... |
OMIM:619991 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:280356 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis |
ORPHA:847 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Hypoglycemia, Elevated circulating branched chain amin... |
OMIM:248600 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst, Camptodactyly |
OMIM:614175 |
Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Horseshoe kidney, Hypocalcemia |
ORPHA:2136 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated c... |
OMIM:614866 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Failure to thrive, Proximal tubulopathy |
ORPHA:2609 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level |
OMIM:619356 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
Alkaptonuria |
|
Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction |
ORPHA:56 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Hypokalemia, Increased circulating cortiso... |
ORPHA:199244 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Focal Dermal Hypoplasia |
|
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal dental enamel morphology, Co... |
ORPHA:2092 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Hype... |
OMIM:222700 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive |
OMIM:616069 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst... |
OMIM:220500 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Carpal synostosis, Increased bone mineral density, Hypospadias, Camptodactyly of fin... |
ORPHA:90652 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Incr... |
ORPHA:139507 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, A... |
ORPHA:3008 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Luscan-Lumish Syndrome |
|
Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... |
OMIM:616005 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Polycystic kidney dysplasia |
OMIM:608776 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Hypoargi... |
OMIM:237300 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... |
ORPHA:72 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Citrullinemia, Classic |
|
Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma... |
OMIM:215700 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
Refsum Disease |
|
Renal insufficiency |
ORPHA:773 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Oroticaciduria, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperg... |
OMIM:620358 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary ... |
OMIM:301068 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Portal hyperten... |
ORPHA:1454 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Stage... |
OMIM:249100 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia |
OMIM:218700 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Failure to thrive, Renal cyst, Increased circulating very long-chain fatty acid conce... |
OMIM:261515 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Secondary Intestinal Lymphangiectasia |
|
Fever, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decre... |
ORPHA:90363 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:98793 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Craniosynostosis, Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:239100 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia |
ORPHA:157973 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Renal cyst |
OMIM:614424 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype... |
ORPHA:280633 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Osteoporosis, Azoospermia, Increased serum iron, Te... |
OMIM:235200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hyperactivity, Hypertriglyceridemia |
ORPHA:363400 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:177904 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Weight loss, Cardiomyopathy |
ORPHA:79430 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Osteopenia, Renal insufficiency, Inguinal hernia, Failure to thrive, Conjugated hyper... |
OMIM:619534 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Oroticacidur... |
OMIM:311250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts |
OMIM:618548 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Eisenmenger Syndrome |
|
Hyperuricemia, Renal insufficiency, Abnormal B-type natriuretic peptide concentration, Elevated c... |
ORPHA:97214 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss |
ORPHA:98897 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious... |
ORPHA:177901 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritonitis, Endocarditis... |
ORPHA:533 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:601847 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Azoospermia, Eleva... |
OMIM:615234 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Failu... |
OMIM:251110 |
Q Fever |
|
Pericarditis, Anorexia, Myocarditis, Vasculitis, Weight loss, Hematuria, Abnormal left ventricula... |
ORPHA:781 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Urinary incontinence, Oral-pharyngeal dyspha... |
ORPHA:404448 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:98754 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hypospadias, Hyperactivity, Unilateral renal agenesis, Congenital... |
ORPHA:96121 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Joint hyperflexibility, Failure to thrive |
ORPHA:2115 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased testicular size, Decreased ci... |
OMIM:202010 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Hypokalemia, Increased circulating cortisol level, Oligozoospermia |
ORPHA:786 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Self-injurious behavior, Abdominal obesi... |
OMIM:176270 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hypertriglyceridemia |
OMIM:608600 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... |
ORPHA:100080 |
Renpenning Syndrome |
|
Hypospadias, Cachexia |
ORPHA:3242 |
Glutaric Acidemia I |
|
Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid concentration, Fai... |
OMIM:231670 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... |
OMIM:615468 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Elevated circulating alkaline phosphatase con... |
ORPHA:69665 |
Xq12-Q13.3 Duplication Syndrome |
|
Low alkaline phosphatase, Eczema, Elevated circulating creatine kinase concentration |
ORPHA:314389 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... |
ORPHA:556 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... |
ORPHA:57777 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Jaundice, Hepatitis, Increased circulating ferritin concentration |
OMIM:194380 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Micropenis |
OMIM:617159 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... |
OMIM:615287 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Colitis, Inflammation of the large intestine |
OMIM:203300 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr... |
ORPHA:404 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hyperammonemia |
OMIM:615486 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Portal hypertension, Stage 5 chronic kidney disease, Ureteral atresia, Polyc... |
OMIM:208540 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Camptodactyly of f... |
ORPHA:1826 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy |
OMIM:618829 |
Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Horseshoe kidney, Elevated circulating a... |
OMIM:607330 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:99901 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Enamel hypoplasia, Camptodactyly |
OMIM:619980 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Hypothermia, Chronic kidney disease, Corneal scarring, Painless fractur... |
ORPHA:642 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Patent ductus ar... |
ORPHA:567 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp... |
OMIM:619525 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Abnormal renal morphology |
OMIM:239300 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity |
ORPHA:25 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... |
ORPHA:100082 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia, Weight loss |
OMIM:209950 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Obesity, Vesicoureteral reflux, Failure to thrive |
ORPHA:96147 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I... |
ORPHA:60025 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Micropenis, Polyphagia, Self-mutilation |
ORPHA:251028 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch... |
ORPHA:679 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra... |
OMIM:308230 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... |
ORPHA:331206 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Portal hypertension, P... |
ORPHA:171 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:140952 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Hypospadias, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:102500 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... |
OMIM:266920 |
Epidermal Nevus Syndrome |
|
Lipoma, Osteopenia, Polycystic kidney dysplasia |
ORPHA:35125 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease, Portal h... |
OMIM:267010 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Obesity, Weight loss, Attention deficit hyperactivity disorder, Hypertrophic cardiom... |
ORPHA:251071 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
Felty Syndrome |
|
Recurrent urinary tract infections, Pericarditis, Weight loss |
ORPHA:47612 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Failure... |
ORPHA:261197 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Kearns-Sayre Syndrome |
|
Renal tubular acidosis, Renal Fanconi syndrome |
OMIM:530000 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H... |
OMIM:253270 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
X-Linked Intellectual Disability, Armfield Type |
|
Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hematochezia, Hypoalbuminemia... |
ORPHA:2070 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:96149 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts |
ORPHA:1318 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Palpitations, Facial t... |
ORPHA:97287 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
Hyperparathyroidism, Transient Neonatal |
|
Elevated circulating alkaline phosphatase concentration, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Jaundice, Hyperbilirubinemia, Polycystic kidney dysplasia, Rec... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Renal cyst |
OMIM:603194 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Stage 5 chronic kidney disease |
OMIM:614378 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Inguinal hernia, Femoral hernia, Unilateral renal agenesis,... |
OMIM:188400 |
Behçet Disease |
|
Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi... |
ORPHA:117 |
Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Patent ductus arteriosus, Renal hypoplasia, Polycysti... |
ORPHA:84064 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype... |
ORPHA:902 |
Apert Syndrome |
|
Sagittal craniosynostosis, Craniosynostosis, Limited elbow movement, Cryptorchidism, Delayed epip... |
OMIM:101200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechog... |
ORPHA:397715 |
Isolated Osteopoikilosis |
|
Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
Christianson Syndrome |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Cachexia, Dysphagia |
ORPHA:85278 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Osteopenia, Inguinal hernia, Joint laxity, Morgagni diaphrag... |
OMIM:613177 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Retinal hemo... |
ORPHA:509 |
Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Dysphagia, Cachexia, Weight loss |
ORPHA:298 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Failure to thrive, Hydronephrosis |
OMIM:115150 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Joint hyperflexibility, T... |
ORPHA:1001 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
Leishmaniasis |
|
Hypoalbuminemia, Anorexia, Weight loss |
ORPHA:507 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev... |
ORPHA:93672 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Oroticaciduria, Failure to thrive, Hyperammonemia |
OMIM:616457 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Elevated alkaline phosphatase of bone origin, Increased urinary type 1 collagen N-terminal telope... |
ORPHA:85188 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Increased circulating ferritin concentration, Vasculitis, Weight loss, Hematochezia,... |
OMIM:615846 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Inguinal hernia, Hypocalcemia |
ORPHA:2306 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Hurler Syndrome |
|
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris |
ORPHA:93473 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Abnormal temper tantru... |
ORPHA:449291 |
Thymoma |
|
Glomerulonephritis, Weight loss |
ORPHA:99867 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Hypocalcemia, Cryptorchidism |
OMIM:192430 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circu... |
ORPHA:567983 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Weight loss, Hypotension |
ORPHA:98850 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase |
OMIM:619985 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph... |
OMIM:615873 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
X-Linked Acrogigantism |
|
Increased body mass index, Abnormal oral glucose tolerance, Fasting hyperinsulinemia, Polyphagia |
ORPHA:300373 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Bilateral fetal pyelectasis, Seborrheic dermatitis, Elevated circul... |
OMIM:300868 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Jaundice, Elevated circulating alkaline phosphatase c... |
OMIM:600803 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Alg9-Cdg |
|
Omphalocele, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Hepatic cysts, Abnorm... |
ORPHA:79328 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Weight ... |
ORPHA:440437 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:529665 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal dental enamel morphology... |
ORPHA:818 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Craniosynostosis, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis |
OMIM:619321 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating renin level |
OMIM:605115 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia |
OMIM:608643 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:1164 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatitis, Gastrointestinal inflamm... |
ORPHA:186 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Acute Lung Injury |
|
Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea... |
ORPHA:178320 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Elevated hepatic... |
ORPHA:300298 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Hypercholesterolemia, Micropenis, Pancreatitis |
OMIM:619471 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Cryptorchid... |
OMIM:257300 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decrease... |
ORPHA:89842 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Myositis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... |
OMIM:619488 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:235 |
Alveolar Echinococcosis |
|
Portal hypertension, Renal cyst, Weight loss, Budd-Chiari syndrome, Abnormal bladder morphology |
ORPHA:284 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Failure to thrive, Weight loss |
ORPHA:1842 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Osteopenia, Recurrent urinary tract infections, Hypertriglyc... |
ORPHA:3455 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypertension, Arrhythmia, Severe fai... |
OMIM:133540 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Micropenis |
OMIM:209900 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hypoalbum... |
ORPHA:67 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia |
ORPHA:2075 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Weight loss, Melena, P... |
ORPHA:100075 |
Rheumatoid Arthritis |
|
Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Obesity, Hypotension |
ORPHA:439822 |
Camurati-Engelmann Disease, Type 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606631 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Hypoplasia of penis, Cachexia, Aggressive behavior, Obesity |
ORPHA:85293 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Abdominal obesity, Attention deficit hyperactivity disorder, Failure to thrive... |
ORPHA:739 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Distal Deletion 10Q |
|
Failure to thrive, Patent ductus arteriosus, Functional abnormality of the bladder, Horseshoe kid... |
ORPHA:96148 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolith... |
ORPHA:798 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension |
OMIM:613320 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Umbilical hernia, Hypocalcemia, Joint laxity |
OMIM:620330 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Papillary renal cell carcinoma, Intracranial hemo... |
ORPHA:363618 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system |
ORPHA:813 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Anorexia, Heart ... |
ORPHA:100085 |
Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Absent or minima... |
ORPHA:1190 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangi... |
ORPHA:562639 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Renal insufficiency, Inguinal hernia, Craniosynostosis, Patent ductus arteriosus, R... |
OMIM:613610 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Paroxysmal Hemicrania |
|
Hypertension, Restless legs |
ORPHA:157835 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Cellulitis, Ves... |
OMIM:606232 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cryptorchidism, Multicystic kidney dysplasia |
ORPHA:3301 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Stage 5 chronic kidney disease |
OMIM:608612 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Intraventricul... |
ORPHA:420741 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... |
ORPHA:228123 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Abnormality of connective tissue |
ORPHA:399180 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Bradycardia, Hypotension |
ORPHA:391673 |
Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Testicu... |
ORPHA:363958 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Failure to thrive, Hyperex... |
OMIM:619503 |
Waldenström Macroglobulinemia |
|
Renal insufficiency |
ORPHA:33226 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Hydroureter, Abnormality of the kidney, Abnormality of... |
ORPHA:2636 |
Classic Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:391 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis, Failure to thrive |
OMIM:216400 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... |
ORPHA:443811 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Low alkaline phosphatase |
OMIM:201100 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Unicoronal s... |
OMIM:616300 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... |
ORPHA:221139 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Agitation, Truncal obesity |
OMIM:219080 |
Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, U... |
OMIM:243800 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... |
ORPHA:353281 |
Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Weight loss |
ORPHA:65682 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... |
ORPHA:3261 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Agitation, Truncal obesity |
OMIM:610475 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Fractures of the long bones, Osteolysis, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600785 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Recurrent fractures, Patent ductus arteriosus, Osteopor... |
ORPHA:955 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis, Umbilical hernia |
ORPHA:2241 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Weight loss, Cardiomyopathy, Dysphagia, Oral aversion, Failure to thrive |
ORPHA:354 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Renal hyp... |
OMIM:620005 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Hyperactivity, Self-mutilation, Cachexia |
ORPHA:52503 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F... |
OMIM:210710 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Dysphagia, Weight loss |
ORPHA:216866 |
Craniopharyngioma |
|
Type II diabetes mellitus, Polyphagia, Obesity |
ORPHA:54595 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Sh... |
ORPHA:538 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Polyphagia,... |
ORPHA:1606 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal dysplasia, Renal cyst |
OMIM:617260 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Stage 5 chronic kidney disease, Large vessel vascu... |
ORPHA:90340 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca... |
OMIM:608233 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ... |
OMIM:617107 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis |
ORPHA:449432 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration... |
OMIM:615688 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Joint laxity, Absent sternal ossification, Hypospadias, Contr... |
OMIM:114290 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Cushing Disease |
|
Increased urinary cortisol level, Myocardial infarction, Increased body weight, Hypertension, Cap... |
ORPHA:96253 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Shagreen patch |
OMIM:191100 |
Chromosome 5Q12 Deletion Syndrome |
|
Decreased body mass index, Hypotension |
OMIM:615668 |
Poliomyelitis |
|
Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia |
ORPHA:2912 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Glomerulonephritis, Elevated circulating C-reactive prot... |
ORPHA:1304 |
Orofaciodigital Syndrome I |
|
Hypertension, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Transient hyperphenylalaninemia, Compulsive behaviors |
ORPHA:98808 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers, Cryptorchidism, ... |
ORPHA:83617 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Charge Syndrome |
|
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney |
ORPHA:138 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Cryptorchidism, ... |
OMIM:249000 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss |
ORPHA:29207 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Re... |
OMIM:272460 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:126550 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Renal steatosis, He... |
ORPHA:391665 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Multicystic kidney dysplasia, Failure to thrive, Patent ductus arteriosus, Craniofac... |
OMIM:300373 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent bac... |
OMIM:102700 |
Rett Syndrome |
|
Cachexia, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical hand wringing |
OMIM:312750 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Small for gestational age, Hyperammonemia, Hypertension, Mitral regurgita... |
OMIM:220111 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis, Obesity |
ORPHA:1435 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase |
OMIM:146300 |
Fibrodysplasia Ossificans Progressiva |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:135100 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Charge Syndrome |
|
Omphalocele, Renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horsesho... |
OMIM:214800 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Hypertension, Obesity |
ORPHA:69663 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Increased body weight |
OMIM:615830 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:167250 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro... |
OMIM:620305 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Oromandibular Dystonia |
|
Bruxism, Dysphagia, Weight loss |
ORPHA:93958 |
Trichohepatoneurodevelopmental Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Recurrent pancreatitis, Decreased liver ... |
OMIM:618268 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Weight loss |
ORPHA:3226 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
Myhre Syndrome |
|
Abnormal penis morphology, Epispadias, Hypospadias, Hypertension |
ORPHA:2588 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Hypokalemia, Enamel hypoplasia |
OMIM:170390 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:142 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Reynolds Syndrome |
|
Calcinosis, Elevated hepatic transaminase, Erythema nodosum, Jaundice, Elevated circulating alkal... |
OMIM:613471 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anorexia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:370348 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Cachexia |
ORPHA:371364 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Acute kidney injury |
ORPHA:90062 |
Meckel Syndrome 14 |
|
Decreased calvarial ossification, Polycystic kidney dysplasia |
OMIM:619879 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Xeroderma Pigmentosum |
|
Aminoaciduria |
ORPHA:910 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Hiatus hernia, Horseshoe ... |
ORPHA:2538 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia, Redu... |
ORPHA:1556 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:236680 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227990 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... |
ORPHA:800 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
Primary Myelofibrosis |
|
Cachexia, Portal hypertension, Anorexia |
ORPHA:824 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Rubinstein-Taybi Syndrome 1 |
|
Joint laxity, Hypospadias, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, P... |
OMIM:180849 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Congenital diaphragmatic he... |
ORPHA:1596 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Lipodystrophy, Reduced thyrox... |
ORPHA:79318 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217085 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias |
OMIM:611962 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Camurati-Engelmann Disease |
|
Cachexia, Anorexia, Urinary retention, Hypertrophic cardiomyopathy, Slender build |
ORPHA:1328 |
Developmental And Epileptic Encephalopathy 95 |
|
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase |
OMIM:618143 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Cerebrocostomandibular Syndrome |
|
Calcaneal epiphyseal stippling, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contractu... |
OMIM:117650 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217093 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227982 |
African Trypanosomiasis |
|
Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Aggressive behavior, Myoca... |
ORPHA:3385 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Hypertension, Abnormality... |
ORPHA:95699 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Chronic Graft Versus Host Disease |
|
Anorexia, Phimosis, Urinary bladder inflammation, Weight loss, Hematuria, Dysphagia |
ORPHA:99921 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat... |
ORPHA:542643 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Acromegaly |
|
Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Vesicoureteral reflux |
OMIM:616975 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Long penis, Knee flexion cont... |
ORPHA:3103 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Camp... |
ORPHA:500095 |
Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... |
OMIM:200980 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Camptodactyly of finger, Ectopic kidney, Aggressive behavior, Obesity, Dysphagia, Ca... |
OMIM:607872 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia |
OMIM:300896 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Osteogenesis Imperfecta, Type Xi |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:610968 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Atypical Werner Syndrome |
|
Renal neoplasm, Failure to thrive, Hypertriglyceridemia, Telangiectasia of the skin, Congestive h... |
ORPHA:79474 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Hypokalemia, Pa... |
ORPHA:91347 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Patent ductus arteriosus, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Dysphagia, Weight loss |
ORPHA:97286 |
Gorham-Stout Disease |
|
Osteomyelitis, Elevated alkaline phosphatase of bone origin |
ORPHA:73 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Weight loss, Mitral regurgitation, Dysphagia, Mildly elevated creatine ki... |
OMIM:607459 |
Nijmegen Breakage Syndrome |
|
Pollakisuria, Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
Trisomy 10P |
|
Small for gestational age, Multiple renal cysts, Abnormality of the kidney, Camptodactyly |
ORPHA:171929 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Myocardial infarction, Anorexia, Increased body weight, Weight ... |
ORPHA:99889 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Elevated circulating alkaline phosphatase concentration, Eczema |
OMIM:618162 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, High urinary gonadotropin level, Renal hypop... |
ORPHA:881 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:614207 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension, Weight loss |
ORPHA:98849 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Weight loss |
ORPHA:131 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
Craniometadiaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:269300 |
Somatomammotropinoma |
|
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy |
ORPHA:314769 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, F... |
OMIM:614008 |
Familial Thrombocytosis |
|
Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension |
ORPHA:71493 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
C Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic... |
ORPHA:1308 |
Peters-Plus Syndrome |
|
Joint laxity, Ureteral duplication, Hypospadias, Craniosynostosis, Limited elbow movement, Crypto... |
OMIM:261540 |
Yunis-Varon Syndrome |
|
Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Seve... |
ORPHA:3472 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Hyperextensible thumb, Renal dysplasia, Joint laxity, Cyst of the ductus choledochus,... |
ORPHA:480880 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Congenital diaphragmatic hernia, Polycystic kidney dysplasia |
OMIM:616546 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia |
ORPHA:139411 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Osteolysis, Nephroblastoma |
ORPHA:1052 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Telangiectasia, Hypertension, Pulmonary arterial hypert... |
OMIM:234100 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arte... |
OMIM:312870 |
Neurofibromatosis, Type I |
|
Hypertension, Renal artery stenosis |
OMIM:162200 |
Proteus Syndrome |
|
Macroorchidism, Abnormal dental enamel morphology, Cachexia, Testicular neoplasm, Craniosynostosi... |
ORPHA:744 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Eiken Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600002 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Elbow contracture, Cryptorchidism, Sclerosis of skull base, Nonossified... |
OMIM:304120 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hypertension,... |
ORPHA:394 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Anorexia, Weight loss |
ORPHA:37 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Renal agenesis, Abnormal renal collecting system morphology, Limited elbow movem... |
OMIM:134780 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity |
OMIM:614947 |
Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla... |
ORPHA:991 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Failure to thrive, Cachexia |
ORPHA:206436 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Micropenis, Insulin resistance, Obes... |
ORPHA:64 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Elevated circulat... |
ORPHA:2388 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Multicystic kidney dysplasia |
ORPHA:1393 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:144 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Weight loss |
ORPHA:79078 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase, Acne |
ORPHA:785 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Failure to thrive, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Weight loss |
OMIM:137440 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro... |
ORPHA:261537 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Recurrent staphylococcal infections, BCGosis, Recurrent tonsi... |
ORPHA:2968 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Decreased body weight, Hypospadias, Urinary incontinence, Abnormali... |
ORPHA:2152 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Recurrent viral infections |
ORPHA:811 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension |
OMIM:151660 |
Boudin-Mortier Syndrome |
|
Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Marshall-Smith Syndrome |
|
Premature ventricular contraction, Hypertension, Decreased body weight, Pulmonary arterial hypert... |
OMIM:602535 |
Neurofibromatosis Type 1 |
|
Hypertension, Attention deficit hyperactivity disorder, Abnormality of the upper urinary tract |
ORPHA:636 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital d... |
ORPHA:199 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Right unicoro... |
ORPHA:261552 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiomyopathy, Hypertension, Abnormal temper ta... |
ORPHA:580 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi... |
ORPHA:576 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Weight loss |
ORPHA:2905 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Urethral at... |
ORPHA:564 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... |
ORPHA:97685 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Hypertensio... |
OMIM:308205 |
Costello Syndrome |
|
Renal insufficiency |
OMIM:218040 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Weight loss, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Cigarette-paper scars, O... |
ORPHA:286 |
Estrogen Resistance |
|
Elevated alkaline phosphatase of bone origin, Acne |
OMIM:615363 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Viss Syndrome |
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Joint laxity, Inguinal hernia, Patent ductus arteriosus, Generalized joint laxity, Umbilical hern... |
OMIM:619472 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ... |
ORPHA:221 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Anorexia, Myocarditis, Vasculitis, Weight ... |
ORPHA:50918 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleeding, Hypoalbuminemia |
ORPHA:79076 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intracranial hemorrhage, Angina pectoris, Cachexia, Telangiectasia |
ORPHA:109 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Fraser Syndrome |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Rena... |
ORPHA:2052 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Weight loss |
ORPHA:100086 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Anorexia, Weight loss, Hypoalbuminemia, Va... |
OMIM:619381 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis, Small for gestational age, Obesity |
OMIM:139210 |
Familial Pancreatic Carcinoma |
|
Anorexia, Weight loss |
ORPHA:1333 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Elbow flexion contracture, Renal cyst, Atypical scar... |
OMIM:113620 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Weight loss |
ORPHA:31205 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, Patent ductus arteriosu... |
OMIM:268300 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Cryptorchidism, Humeroradial synostosis, Renal hypoplasia, Polycystic ... |
ORPHA:3404 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Dysphagia, Weight loss |
ORPHA:2020 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Nocardiosis |
|
Pericarditis, Anorexia, Weight loss |
ORPHA:31204 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Marfan Syndrome |
|
Congestive heart failure, Attention deficit hyperactivity disorder, Slender build, Cachexia |
ORPHA:558 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Paten... |
OMIM:601803 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Abnormal temper tantrums, Pulmonary arterial hypertension, Cach... |
ORPHA:2072 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic kidney, Patent ductus arte... |
OMIM:164210 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Abnormality of alkaline phosphatase level |
OMIM:300106 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Stickler Syndrome |
|
Arrhythmia, Slender build, Cachexia |
ORPHA:828 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Hypotension, Arrhythmia |
ORPHA:707 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Carney Complex |
|
Hypertension, Increased body weight, Congestive heart failure, Abdominal obesity |
ORPHA:1359 |
Norrie Disease |
|
Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, Failure to thrive, A... |
ORPHA:649 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |