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, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
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 |
|
Hydronephrosis, Duplicated collecting system |
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 viral infections, Recurrent protozoan 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 streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... |
ORPHA:70592 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Focal segmental glomer... |
OMIM:613092 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Para... |
ORPHA:2197 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc... |
OMIM:616963 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
Immunodeficiency 31A |
|
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... |
OMIM:614892 |
Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag... |
ORPHA:564178 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Neuroblastoma |
|
Elevated urinary catecholamines |
ORPHA:635 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Dent Disease 2 |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating aspartate aminot... |
OMIM:300555 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was... |
OMIM:248190 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... |
ORPHA:411536 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Hypercalciuria, Medullary nephrocalcinosis |
OMIM:617993 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... |
ORPHA:94088 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 24 |
|
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Bronchiectasis, Pol... |
OMIM:619468 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... |
OMIM:600995 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia |
OMIM:612286 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... |
OMIM:248250 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hypouricemia, Hyperuricosuria, Renal... |
OMIM:220150 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Hyperuricemia, Abnormal renal insterstitial morphology, Impaired renal conce... |
OMIM:614227 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Hyper... |
ORPHA:99879 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polyuria, Hyperglycemia, Polydipsia, Decreased level of 1,5 anhydr... |
OMIM:222100 |
Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Hypercal... |
OMIM:143880 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,... |
OMIM:611521 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting |
OMIM:612287 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
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 |
|
Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased urinary potassiu... |
OMIM:607364 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis |
OMIM:613312 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
OMIM:300323 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma... |
OMIM:618314 |
Dent Disease |
|
Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise... |
ORPHA:1652 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Increased ... |
OMIM:613090 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... |
OMIM:601894 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... |
ORPHA:411543 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... |
ORPHA:79233 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
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 |
|
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... |
ORPHA:2838 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... |
OMIM:618061 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Orthostatic hypotension |
OMIM:618182 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular ... |
OMIM:602522 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp... |
OMIM:601198 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate, Elevated circulating creatinine concentration |
OMIM:242530 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Renal insufficiency, Hypokalemia, Renal tubular dysfunction, Impair... |
OMIM:134600 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu... |
ORPHA:228302 |
Renal Glucosuria |
|
Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria |
OMIM:233100 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia |
ORPHA:2668 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Decreased glomerular filtration rate, Renal insufficiency, ... |
OMIM:162000 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease, Elevated hepatic tra... |
OMIM:602114 |
Dent Disease 1 |
|
Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat... |
OMIM:300009 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Small for gestational age, Glycosuria, Chronic kidney disease... |
ORPHA:97362 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... |
ORPHA:93600 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperaldosteronism, Hyperchloriduria, Nephrocalcinosis, Increased urinary potassium, Hypokalemia,... |
OMIM:601678 |
C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
Congenital Primary Megaureter |
|
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... |
ORPHA:617 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Aminoaciduria, Hyperph... |
OMIM:616026 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
Hereditary Xanthinuria |
|
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... |
ORPHA:3467 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria |
ORPHA:419 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Hypertension |
ORPHA:2613 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr... |
OMIM:612925 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... |
OMIM:615008 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:618349 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Hypertension, Nephropathy |
ORPHA:2820 |
Primary Fanconi Renotubular Syndrome |
|
Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney... |
ORPHA:3337 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
Oligomeganephronia |
|
Proteinuria, Small for gestational age, Renal tubular atrophy, Stage 5 chronic kidney disease, De... |
ORPHA:2260 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... |
ORPHA:18 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... |
OMIM:617609 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... |
ORPHA:650 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612926 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hypertension, Mesa... |
OMIM:616818 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612924 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... |
OMIM:300971 |
Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca... |
OMIM:603278 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke... |
OMIM:618913 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir... |
OMIM:603592 |
Proximal Renal Tubular Acidosis |
|
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypokalemia, Hyper... |
ORPHA:47159 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Craniosynostosis, Micropenis, Osteopenia, Hypercalciuria, Hypercalcemia, Hypospadias |
OMIM:614732 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Fanconi Renotubular Syndrome 2 |
|
Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ... |
OMIM:613388 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria |
OMIM:273770 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Failu... |
OMIM:620085 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Osteomalacia, Hypophosphatemic rickets |
OMIM:193100 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hypercalciuria, ... |
ORPHA:73224 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Arthritis |
OMIM:216950 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria |
OMIM:260000 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hematuria, Hypercalcemia, Dysuria |
ORPHA:284400 |
Cystinuria |
|
Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri... |
OMIM:220100 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neutrophilic infilt... |
ORPHA:284426 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Nephrocalcinosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglyceridemia... |
ORPHA:2088 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Small for gestational age, Hypochloremia, Hyperchloriduria, Increased circula... |
OMIM:241200 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Ren... |
OMIM:300554 |
Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... |
ORPHA:93599 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Small for gestational age, Vesic... |
ORPHA:93101 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Chronic kidney disease, Renal cyst, Hyperuricemia, Nephropathy, Focal segmental glomerulosc... |
OMIM:617056 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Lesch-Nyhan Syndrome |
|
Hyperuricosuria, Nephrolithiasis, Nephrocalcinosis, Hyperuricemia |
OMIM:300322 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, R... |
OMIM:241530 |
Blue Diaper Syndrome |
|
Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:94086 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Hypospadias |
OMIM:201710 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Hematuria, Chronic kidney disease, Glomerular subendothel... |
OMIM:609814 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ... |
ORPHA:567548 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Nephrocalcinosis, Hypocalcemic seizures, Hypermagnesemia, Reduced ratio o... |
ORPHA:405 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic ki... |
ORPHA:656 |
Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... |
ORPHA:84090 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Renal tubular atrophy, Renal... |
ORPHA:85450 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased plasma free carnitine, Tub... |
ORPHA:157 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... |
ORPHA:329918 |
Primary Hyperoxaluria Type 1 |
|
Enuresis, Recurrent urinary tract infections, Nephrocalcinosis, Decreased glomerular filtration r... |
ORPHA:93598 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
Hyperprolinemia, Type Ii |
|
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239510 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Hypercalcemia |
OMIM:156400 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Reduced left ventricular ejection fraction, Elevated left ventricular end-diast... |
OMIM:620152 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
East Syndrome |
|
Enuresis, Increased circulating renin level, Renal magnesium wasting, Abnormal urinary electrolyt... |
ORPHA:199343 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinemia, Hyperglycinuria |
ORPHA:42062 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c... |
OMIM:123550 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Hypercalcemia, Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Failur... |
OMIM:241500 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Hyperphenylalaninemia, Elevated urinary 7-biopterin level |
OMIM:264070 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici... |
OMIM:256300 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia, Hyperca... |
OMIM:239200 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... |
OMIM:179800 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
Saccharopinuria |
|
Hyperlysinuria, Histidinuria, Saccharopinuria, Elevated circulating sacchoropine concentration, C... |
OMIM:268700 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Renal salt was... |
OMIM:613845 |
Fanconi-Bickel Syndrome |
|
Rickets, Proteinuria, Hypophosphatemia, Glycosuria, Hypouricemia, Beta 2-microglobulinuria, Hyper... |
OMIM:227810 |
Hyperparathyroidism 4 |
|
Osteopenia, Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Uremic Pruritus |
|
Renal hypophosphatemia, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Chr... |
ORPHA:94059 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polycystic kidney dysplasia, Hyperammonemia, Decreased plasma free carnitine, Tubulointerstitial ... |
ORPHA:228308 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Chondrocalcinosis, Hypophosphatemia, Renal insufficiency, Hypermagnesemia, Osteomalacia, Hypocalc... |
OMIM:600740 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia |
OMIM:145980 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Hypercalciuria, Polydipsia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Hypokalemia, Renal sodium wasting, Abnormal urine sodium c... |
ORPHA:320 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Hy... |
ORPHA:2704 |
Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp... |
ORPHA:436271 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia... |
OMIM:239000 |
Dibasic Amino Aciduria I |
|
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria |
OMIM:222690 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Increased urinary taurine |
OMIM:237400 |
Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ... |
ORPHA:71529 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Amelogenesis Imperfecta, Type Ig |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability |
OMIM:204690 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Inc... |
ORPHA:49041 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... |
OMIM:612933 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Elevated hep... |
ORPHA:275555 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Aminoacidu... |
OMIM:613404 |
Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Xanthinuria |
OMIM:278300 |
Fructose Intolerance, Hereditary |
|
Proximal renal tubular acidosis, Transient aminoaciduria, Hypophosphatemia, Glycosuria, Hyperuric... |
OMIM:229600 |
Alport Syndrome |
|
Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer... |
ORPHA:63 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia |
ORPHA:2123 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney d... |
ORPHA:89938 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Increased circulating corticosterone level, Hyperkalemia, Fail... |
OMIM:610600 |
Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:617731 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ... |
OMIM:245900 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Maternal diabetes, Small for gestational age, Neonatal hypoglycemia, Fasting hypoglyc... |
ORPHA:324575 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets |
OMIM:163200 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aspartic aciduria, Aminoaciduria |
OMIM:222730 |
Galactosemia Ii |
|
Galactosuria, Hypergalactosemia |
OMIM:230200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Aminoaciduria, Hyperp... |
OMIM:220110 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Alport Syndrome 3, Autosomal Dominant |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... |
OMIM:104200 |
Renal Tubular Acidosis Iii |
|
Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia |
OMIM:267200 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased... |
OMIM:145981 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Hypophosphatemia, Abnormal adipose tissue morphology, Osteomalacia, Coarse metaphysea... |
ORPHA:93160 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Hypercalcemia, Weight loss |
ORPHA:69077 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, Hypokalemia,... |
OMIM:604278 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Decreased glomerular filtratio... |
ORPHA:488627 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... |
OMIM:301006 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia |
OMIM:618161 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate, Ami... |
OMIM:603358 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Craniosynostosis, Proteinuria, Enlarged kidney, Macroscopic hematuria, Abnormal dental enamel mor... |
ORPHA:251004 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Renal phosphate wasting |
ORPHA:352540 |
Cystinosis |
|
Rickets, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubu... |
ORPHA:213 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Hypophosphatasia, Childhood |
|
Phosphoethanolaminuria, Low alkaline phosphatase, Elevated plasma pyrophosphate, Elevated urine p... |
OMIM:241510 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Frasier Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Hematuria, Abnormal lactate dehydrogenase level |
ORPHA:2134 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Polycystic kidney dysplasia, Renal cortical adenoma, Recurrent pancreatitis, Papillary renal cell... |
OMIM:145001 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Enuresis, Increased circulating renin level, Hypertension, Hypokalemia, Hypocalciuria, Renal sodi... |
OMIM:612780 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis |
OMIM:146200 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria |
OMIM:611590 |
Trimethylaminuria |
|
Hypertension, Trimethylaminuria, Tachycardia |
OMIM:602079 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria, Failure to thrive |
ORPHA:163690 |
Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Renal insufficiency, Decreased serum creatinine, Hematuria, Abn... |
ORPHA:54057 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia... |
ORPHA:77296 |
Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypophosphatemia, Glyco... |
ORPHA:411629 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Increased urinary sulfite, Hypouricemia, Elevated urinary S-sulfocysteine level, Increased urinar... |
OMIM:252150 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficiency, Urolithiasis, Hyp... |
OMIM:300661 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Hyperhomocystinemia, Homocystinuria |
OMIM:236250 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased glomerular filtration rate, Agitation, Intracranial hemorrhage, Epistaxis, Proteinuria,... |
ORPHA:340 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Prolinuria, Increased level of L-pyroglutamic acid in urine |
OMIM:260005 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis |
OMIM:613494 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Diaminopentanuria |
|
Cystinuria, Hyperlysinuria |
OMIM:222350 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Failure to thrive, Polydipsia, Polyuria |
OMIM:125800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, E... |
OMIM:307800 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Failure to thrive, Polydipsia, Polyuria |
OMIM:304800 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria |
OMIM:204750 |
Gitelman Syndrome |
|
Enuresis, Ventricular tachycardia, Increased circulating renin level, Renal magnesium wasting, Hy... |
OMIM:263800 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Primary Hyperoxaluria |
|
Calcium oxalate nephrolithiasis, Aciduria, Nephrocalcinosis, Hyperoxaluria, Chronic kidney diseas... |
ORPHA:416 |
Denys-Drash Syndrome |
|
Proteinuria, Hypertension, Nephropathy, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hyperammonemia, Fever, Hyperuricemia, Increased level ... |
OMIM:246450 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Vesicoureteral ref... |
ORPHA:261222 |
Oculoskeletodental Syndrome |
|
Mucopolysacchariduria, Small for gestational age, Hypercalciuria, Hypocalcemia, Elbow flexion con... |
OMIM:618440 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Stage 5 chronic kidney dise... |
ORPHA:976 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619113 |
Nephrotic Syndrome, Type 14 |
|
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:617575 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:203400 |
Galactosemia Iii |
|
Galactosuria, Hypergalactosemia, Aminoaciduria |
OMIM:230350 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,... |
ORPHA:35710 |
Enamel-Renal Syndrome |
|
Enuresis, Nephrocalcinosis, Renal insufficiency, Nephropathy, Hypocalciuria, Hypophosphaturia, Im... |
ORPHA:1031 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis, Cystathioninemia |
ORPHA:212 |
Hypersulfaturia |
|
Nephrolithiasis, Increased urinary sulfate |
OMIM:620372 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Reduced blood urea nitrogen, Hyponatremia, Hyposthenu... |
OMIM:300539 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, ... |
OMIM:232200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis, Failure to thrive |
OMIM:263000 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss |
ORPHA:178029 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... |
ORPHA:2364 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Aminoaciduria |
ORPHA:147 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Liddle Syndrome |
|
Arrhythmia, Renal insufficiency, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia |
ORPHA:526 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Glomerular basement membrane disruption, Thickened glomerular basement membrane, Stage... |
OMIM:609057 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypertension, Renal hypoplasia |
OMIM:618681 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the... |
ORPHA:223 |
Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Small vessel vasculi... |
ORPHA:93126 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:618348 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Stage 5 chronic kidney... |
OMIM:613095 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Non-Functioning Paraganglioma |
|
Elevated urinary epinephrine, Elevated urinary dopamine, Elevated urinary norepinephrine, Hematur... |
ORPHA:94080 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hypertension, Nephropathy, Nephrotic syndrome, Hematuria |
OMIM:105200 |
Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip... |
OMIM:606995 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Renal... |
ORPHA:556037 |
Nephrosialidosis |
|
Renal insufficiency, Nephropathy, Nephrotic syndrome |
OMIM:256150 |
Alport Syndrome 2, Autosomal Recessive |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m... |
OMIM:203780 |
Senior-Loken Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
Juvenile Nephropathic Cystinosis |
|
Microscopic hematuria, Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kid... |
ORPHA:411634 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:264350 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... |
OMIM:146255 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia |
OMIM:618347 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Delayed e... |
OMIM:264700 |
Hypophosphatemic Rickets |
|
Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Nephrocalcinosis, Joint stiffness, Renal ... |
ORPHA:437 |
Genetic Recurrent Myoglobinuria |
|
Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency... |
ORPHA:99845 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias |
OMIM:201910 |
Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Hyperkalemia, Renal... |
ORPHA:556030 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy... |
OMIM:615112 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Chronic oral candidiasis, Re... |
OMIM:613953 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... |
OMIM:615861 |
Galloway-Mowat Syndrome 4 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:617730 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Juvenile Paget Disease |
|
Hyperuricemia, Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial h... |
ORPHA:2801 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Maternally-Inherited Diabetes And Deafness |
|
Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Arrhythmia, Renal insuffic... |
ORPHA:225 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Nephrotic Syndrome, Type 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
OMIM:615244 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:239500 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Failure to thrive, Increased blood urea nitrogen, Elevated circulating creatinine c... |
OMIM:617872 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria |
ORPHA:251274 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Hyperkalemia, Stage 3 chronic kidney disease... |
OMIM:620366 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... |
OMIM:191800 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Elevated hepatic transaminase, Jaundice, Increased total bilirubin |
ORPHA:890 |
Glutamate Formiminotransferase Deficiency |
|
Elevated urinary formiminoglutamic acid level, Positive ferric chloride test, Aminoaciduria |
OMIM:229100 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Nephropa... |
OMIM:208085 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
Lipodystrophy, Familial Partial, Type 3 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, ... |
OMIM:604367 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microscopic hematuria, Proteinuria, Abnormal renal physiology, Jaundice, Hemolytic-uremic syndrom... |
OMIM:274150 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria |
OMIM:615398 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Recurrent otiti... |
OMIM:615993 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Renal cyst |
OMIM:174050 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary sulfite, Hypouricemia, Increased urinary hypoxanthine, Decreased urinary urate,... |
OMIM:252160 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Hydroureter, Urethral valve, Urethr... |
OMIM:236730 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, ... |
OMIM:232220 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Weight loss |
ORPHA:95626 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Weight ... |
ORPHA:97289 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl... |
OMIM:615862 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia, Decreased circulating cortisol... |
OMIM:614736 |
Parathyroid Carcinoma |
|
Chondrocalcinosis, Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insuffi... |
ORPHA:143 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Heinz Body Anemias |
|
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia, Osteomalacia, Failure to thr... |
ORPHA:289157 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Obesity |
ORPHA:329249 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Colitis, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomer... |
OMIM:617006 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Renal insufficiency,... |
OMIM:619386 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, He... |
ORPHA:231111 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Gout, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concent... |
OMIM:232800 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
BCGosis, Severe toxoplasmosis, Coccidioidomycosis, Recurrent mycobacterial infections, Recurrent ... |
ORPHA:319552 |
Cystinosis, Nephropathic |
|
Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, Renal Fanconi syndrome, Ne... |
OMIM:219800 |
Glycogen Storage Disease Ic |
|
Proteinuria, Pulmonary arterial hypertension, Hyperuricemia, Decreased glomerular filtration rate... |
OMIM:232240 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, ... |
ORPHA:35878 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Enuresis, Hypophosphatemia, Renal Fanconi syndrome, Hypophosphatemic rickets, Elevated circulatin... |
OMIM:619743 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal insufficiency, Renal tubular dysfunction, Hyperkalemia, Renal tubul... |
ORPHA:31826 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Infantile Myofibromatosis |
|
Chondrocalcinosis, Abnormality of the kidney, Osteolysis, Bone cyst, Limitation of joint mobility... |
ORPHA:2591 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate |
ORPHA:760 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Agitation, Abnormal oral glucose tolerance, ... |
ORPHA:276580 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Aapoaiv Amyloidosis |
|
Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Hype... |
ORPHA:439232 |
Cystinuria |
|