Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
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 |
|
Recurrent vulvovaginal candidiasis, Onychomycosis |
OMIM:613108 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Mannose-Binding Lectin Deficiency |
|
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 53 |
|
Recurrent infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:617585 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine |
OMIM:618477 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Neuroblastoma |
|
Elevated urinary catecholamines |
ORPHA:635 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... |
ORPHA:411536 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Monocyte and dendritic cell deficiency, autosomal recessive |
|
Recurrent infections |
OMIM:614894 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes melli... |
OMIM:222100 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... |
ORPHA:2843 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... |
OMIM:220150 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Hy... |
ORPHA:99879 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
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 candida infections, Recurrent bacterial infections |
OMIM:242870 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia |
OMIM:300323 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... |
ORPHA:1652 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Renal insufficiency, Acute kidney injury, Hyperuricemia, Uric acid... |
ORPHA:411543 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Elevated alkaline phosphatase of bone origin, Gener... |
OMIM:613388 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
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 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... |
ORPHA:157215 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... |
OMIM:618061 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... |
OMIM:603278 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le... |
OMIM:607364 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:618349 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Tuftsin Deficiency |
|
Recurrent infections |
OMIM:191150 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis |
OMIM:143880 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Elevated hepatic transaminase, Chronic kidney disease, Ne... |
OMIM:602114 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... |
OMIM:616026 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Osteopenia, Increased... |
OMIM:601678 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... |
ORPHA:54370 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Hyperxanthinemia, Hypou... |
ORPHA:3467 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Oligomeganephronia |
|
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag... |
ORPHA:2260 |
Nephronophthisis 1 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... |
OMIM:256100 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica... |
ORPHA:3337 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... |
ORPHA:18 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Senior-Loken Syndrome 4 |
|
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulop... |
ORPHA:47159 |
Severe Primary Trimethylaminuria |
|
Trimethylaminuria |
ORPHA:468726 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Craniosynostosis, Micropenis, Hypospadias, Osteopenia, Hypercalciuria, Hypercalcemia |
OMIM:614732 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Saccharopinuria |
|
Elevated circulating sacchoropine concentration, Histidinuria, Citrullinuria, Hyperlysinuria, Sac... |
OMIM:268700 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Threoninemia |
|
Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Renal tubular acidosis, Nephropathy, Glycosuria, Hypercalciuria, Generalized am... |
ORPHA:2088 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level |
ORPHA:2056 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... |
OMIM:607665 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... |
OMIM:241200 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... |
OMIM:227810 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... |
OMIM:300554 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hyperphosphatemia, Nephrocalcinosis |
ORPHA:428 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency, Hypercalcemia |
OMIM:240150 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Elevated hepatic transa... |
ORPHA:284426 |
Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Small for gestational age, Abnormal renal tubule morphology, ... |
ORPHA:93101 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... |
OMIM:613501 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease |
OMIM:618250 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, R... |
ORPHA:405 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:614868 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F... |
OMIM:241530 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi... |
ORPHA:84090 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis |
OMIM:156400 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239510 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Hyperuricemia |
OMIM:300322 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat... |
OMIM:241500 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... |
OMIM:134600 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... |
OMIM:256300 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Elevated urinary 7-biopterin level, Hyperphenylalaninemia, Transient hyperphenylalaninemia |
OMIM:264070 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so... |
ORPHA:199343 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu... |
OMIM:617056 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis, Hyperphosph... |
OMIM:239200 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Osteopenia, Hypercalcemia |
OMIM:617343 |
Uremic Pruritus |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... |
OMIM:613845 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia |
ORPHA:510 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Increased bone mineral density, Macula... |
OMIM:239000 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
ORPHA:436271 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level, Hypertension |
OMIM:613677 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... |
ORPHA:89938 |
Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated hyperbilirubinemia, Pr... |
OMIM:613404 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
Ochoa Syndrome |
|
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... |
ORPHA:2704 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circulating reni... |
ORPHA:320 |
Xanthinuria, Type I |
|
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hypokalemia, Hydronephrosis, Polydipsia |
OMIM:304900 |
Galactosemia Ii |
|
Hypergalactosemia, Galactosuria |
OMIM:230200 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated hepatic transaminase, Elevated circul... |
ORPHA:275555 |
Immunodeficiency 32A |
|
Recurrent infections |
OMIM:614893 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... |
OMIM:229600 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... |
OMIM:610600 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Aspartic aciduria |
OMIM:222730 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
OMIM:220110 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney |
OMIM:163200 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive |
OMIM:606528 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate,... |
OMIM:604278 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Hematuria, Hypercalcemia |
ORPHA:69077 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
ORPHA:42062 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency |
OMIM:615995 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose... |
ORPHA:93160 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria |
OMIM:204750 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Renal insufficiency, Micropenis |
OMIM:613861 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... |
OMIM:613779 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
OMIM:145981 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Macroscopic hematuria, Memb... |
ORPHA:251004 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... |
OMIM:603358 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia |
OMIM:146200 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Hypokalemia |
OMIM:611590 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephr... |
ORPHA:213 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoeth... |
OMIM:241510 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria, Abnormal lactate dehydrogenase level |
ORPHA:2134 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia |
OMIM:602079 |
Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Hyperuricosuria, Urolithiasis, Renal insufficiency, Hyperuricemia, Uric acid nephrol... |
OMIM:300661 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Abn... |
ORPHA:54057 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets |
OMIM:612089 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine |
OMIM:260005 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia... |
ORPHA:77296 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H... |
OMIM:618440 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Low-molecula... |
ORPHA:411629 |
Nephrolithiasis, Calcium Oxalate |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Polyphagia, Cystinuria |
ORPHA:163690 |
Glycogen Storage Disease V |
|
Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia |
OMIM:232600 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Increased urinary taurine, Absent urinary urothione, Xanthinuria, Decreased urinary sulfate, Incr... |
OMIM:252150 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis |
OMIM:125800 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, 3-Methylglutaric aciduria, Hyperammonemia, Organic aciduria, Decreased plasma carnitine, H... |
OMIM:246450 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis |
OMIM:304800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... |
ORPHA:416 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:203400 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ob... |
ORPHA:261222 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Pa... |
OMIM:263800 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... |
ORPHA:340 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Pulmona... |
ORPHA:93126 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Galactosemia Iii |
|
Hypergalactosemia, Aminoaciduria, Galactosuria |
OMIM:230350 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... |
ORPHA:1031 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... |
OMIM:615993 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... |
ORPHA:35710 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... |
OMIM:232200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556037 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... |
ORPHA:556030 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... |
OMIM:606995 |
Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functional... |
ORPHA:223 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:94080 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Nephrosialidosis |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency |
OMIM:256150 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Recurrent fractures, Hypophosphatemia, Delayed epiphyseal ossification, Sparse... |
OMIM:264700 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... |
OMIM:615862 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria |
ORPHA:251274 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Spider hemangioma, Focal segment... |
OMIM:232240 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss |
ORPHA:178029 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia... |
ORPHA:411634 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:618347 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Failure to thrive, Joint stiffness, Hypophosphatemia, Fibrous dysplasia ... |
ORPHA:437 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular acidosis, Aminoaciduria, Reduced renal corticomedullary differentiation, Renal tubu... |
OMIM:208085 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Myositis, Increased c... |
ORPHA:99845 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein,... |
OMIM:613095 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... |
OMIM:613953 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Arrhythmia, Renal insufficiency, Proteinuria, Glomerulo... |
ORPHA:225 |
Juvenile Paget Disease |
|
Recurrent fractures, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h... |
ORPHA:2801 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria |
OMIM:619813 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... |
OMIM:612780 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Decreased HDL c... |
OMIM:604367 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hyper... |
ORPHA:143 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Elevated circulating creatini... |
OMIM:274150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... |
OMIM:232220 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Gout, Hyperuricemia, Exercise-induced myoglobinuria |
OMIM:232800 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Increased total bilirubin, Jaundice, Renal insufficiency |
ORPHA:890 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight ... |
ORPHA:97289 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Hypocalcemia, Sparse bone t... |
ORPHA:289157 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Pollakisuria |
ORPHA:95626 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomer... |
OMIM:617006 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin, Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Nephroblastoma, Osteoporosis, Hyper... |
ORPHA:99880 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ... |
ORPHA:31826 |
Riboflavin Deficiency |
|