Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... |
ORPHA:411536 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ... |
ORPHA:411543 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney... |
OMIM:619468 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency |
OMIM:300323 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency |
OMIM:300661 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ... |
OMIM:617056 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:266900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:606996 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... |
OMIM:607665 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholest... |
OMIM:610947 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... |
ORPHA:567544 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... |
ORPHA:79233 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... |
ORPHA:93101 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout, Hyperuricemia |
ORPHA:510 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... |
OMIM:248250 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Megacystis, Polyuria, Hypernatremia |
OMIM:125800 |
Lesch-Nyhan Syndrome |
|
Dysphagia, Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria, Hypernatremia |
OMIM:304800 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Myopathy Due To Malate-Aspartate Shuttle Defect |
|
Elevated circulating creatine kinase concentration, Red urine |
OMIM:254960 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:261222 |
Blue Diaper Syndrome |
|
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis |
ORPHA:94086 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia, Hydronephrosis, Polyuria, Hypokalemia |
OMIM:304900 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma... |
OMIM:615993 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia |
OMIM:617668 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Glycogen Storage Disease V |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine |
OMIM:232600 |
Hereditary Coproporphyria |
|
Hyponatremia, Porphyrinuria, Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated... |
ORPHA:79273 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... |
OMIM:615703 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... |
ORPHA:47159 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E... |
ORPHA:368 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
ORPHA:214 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabe... |
OMIM:604367 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:157 |
Becker Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Stage 5 chronic kid... |
OMIM:251000 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... |
OMIM:203800 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased urinary porphobilinogen, Increased circulating ferritin co... |
OMIM:618892 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyperuricemia, 3-Me... |
OMIM:246450 |
Glycogen Storage Disease Ia |
|
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hep... |
OMIM:232200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:228308 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Dia... |
ORPHA:77296 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Conjugated hyperbilirubinemia |
ORPHA:234 |
Glycogen Storage Disease Ib |
|
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hep... |
OMIM:232220 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, P... |
ORPHA:275555 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... |
OMIM:618913 |
Birk-Landau-Perez Syndrome |
|
Renal insufficiency, Hyperechogenic kidneys, Tubulointerstitial nephritis, Hyperkalemia |
OMIM:617595 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Abnormal urine sodi... |
ORPHA:320 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter,... |
ORPHA:223 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri... |
ORPHA:99845 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia, Polydipsia |
ORPHA:178029 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Megacystis |
ORPHA:977 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Elevated circulating creatinine concent... |
OMIM:137920 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin, Skin rash |
ORPHA:90036 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hypertension, Hepatomegaly, Maternal diabetes, Insulin resistance, I... |
ORPHA:79083 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Mpdu1-Cdg |
|
Renal cortical cysts, Eczema, Elevated circulating creatine kinase concentration |
ORPHA:79323 |
Porphyria |
|
Abnormal urinary color, Abnormal circulating porphyrin concentration |
ORPHA:738 |
Atresia Of Urethra |
|
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... |
ORPHA:105 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterol... |
ORPHA:181393 |
Glycogen Storage Disease Ic |
|
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hypoglycemia, Hepatomegaly, ... |
OMIM:232240 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Vii |
|
Gout, Exercise-induced myoglobinuria, Hyperuricemia, Increased total bilirubin |
OMIM:232800 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ... |
ORPHA:199343 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria |
OMIM:615994 |
Atherosclerosis Susceptibility |
|
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... |
ORPHA:93111 |
Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria |
OMIM:278300 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Abnormal serum bile acid concentration, Renal cyst, Hyperbilirubinemia, Dar... |
ORPHA:79303 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephropathy, Aminoaciduria,... |
ORPHA:213 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... |
ORPHA:79259 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, H... |
OMIM:612780 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Polyphagia, Increased blood urea nitrogen, Membranoprolifer... |
ORPHA:251004 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Proximal rena... |
OMIM:229600 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Gout, Hyperu... |
ORPHA:90041 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine |
OMIM:301015 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly |
OMIM:619175 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatos... |
OMIM:610717 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis |
OMIM:619362 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia, Diabetes mellitus, Hepatic steatosis |
OMIM:613877 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Purple urine, Increased urinary porphobilinogen, Increased erythrocyte protoporphyr... |
ORPHA:100924 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Polydipsia,... |
ORPHA:411634 |
Cold Agglutinin Disease |
|
Abnormal urinary color |
ORPHA:56425 |
Hyperbiliverdinemia |
|
Green urine |
OMIM:614156 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal tubulopathy... |
ORPHA:18 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... |
OMIM:606721 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Decreased plasma free carnitine, Elevated circulating creatine kinase concentratio... |
ORPHA:228305 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy |
ORPHA:1909 |
Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color, Infectious encephalitis, Skin rash |
ORPHA:2116 |
Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:98375 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system |
OMIM:617093 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... |
OMIM:617671 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Adrenal insufficiency, Hypoglycemia, Nephrotic syndrome, Stag... |
OMIM:617575 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hyperalaninemia |
OMIM:614582 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Polyphagia |
OMIM:615986 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Malar ras... |
ORPHA:231111 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Minimal change... |
OMIM:616730 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria |
OMIM:613677 |
Visceral Myopathy 1 |
|
Hydronephrosis, Dysphagia, Urinary retention, Megacystis, Pancreatitis, Vesicoureteral reflux |
OMIM:155310 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... |
ORPHA:488627 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... |
OMIM:301033 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... |
ORPHA:49041 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... |
ORPHA:93552 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal c... |
OMIM:263200 |
Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Hypophosphatemia, Hyperc... |
OMIM:239200 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Familial Visceral Myopathy |
|
Megacystis, Hydroureter, Vesicoureteral reflux |
ORPHA:2604 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Megacystis, Hydroureter |
ORPHA:2241 |
Gitelman Syndrome |
|
Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Hypomagnesemia, Renal potassium wasting, En... |
OMIM:263800 |
Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Megacystis, Esophagitis, Dysphagia |
OMIM:619350 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... |
ORPHA:183 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceride... |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovarie... |
ORPHA:280356 |
Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Androgen insufficiency, Hypoglycemia, Decreased circul... |
ORPHA:95409 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Decreased circu... |
OMIM:616829 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:71529 |
Acute Intermittent Porphyria |
|
Hyponatremia, Urinary retention, Pseudobulbar paralysis, Dysuria, Porphyrinuria, Dark urine, Incr... |
ORPHA:79276 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis, Hypokalemia |
ORPHA:369929 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne... |
ORPHA:730 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia |
OMIM:245900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... |
ORPHA:436182 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... |
ORPHA:99880 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney |
ORPHA:195 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... |
ORPHA:33001 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color |
ORPHA:90033 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Parathyroid Carcinoma |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... |
ORPHA:143 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... |
OMIM:603471 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Renal cortical microcysts |
OMIM:614866 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... |
OMIM:300635 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Tachycardia, Neona... |
ORPHA:348 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... |
OMIM:616516 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Abnormal drinking behavior, Megacystis, Abnormal eating behavior, Recurrent pneumoni... |
ORPHA:209905 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Polydipsia, Ab... |
ORPHA:411629 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Hypertriglyce... |
OMIM:616222 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria, Hypokalemia |
ORPHA:251274 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... |
OMIM:252150 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... |
OMIM:600995 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... |
ORPHA:37042 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Rec... |
OMIM:613095 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Increased urinary glycerol, Hypertriglyceridemia, Cryptorchi... |
OMIM:307030 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... |
ORPHA:340 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... |
OMIM:241200 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, H... |
OMIM:616733 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminuri... |
OMIM:214100 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Hydronephrosis, Renal atrophy, Dysphagia |
OMIM:618578 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... |
ORPHA:94059 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Fasting hypoglycemia, Hepatocellular ... |
ORPHA:2088 |
Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Oral aversion, Hyperuricemia, Ketonuria |
ORPHA:134 |
Harrod Syndrome |
|
Hypospadias, Renal cortical microcysts |
OMIM:601095 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... |
OMIM:607364 |
Addison Disease |
|
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Premature ova... |
ORPHA:85138 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Hypoglycemia, Orthostatic hypotension, Hepatitis... |
ORPHA:199299 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... |
OMIM:235400 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... |
OMIM:610188 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Hypermagnesemia, Renal insufficiency |
ORPHA:469 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... |
OMIM:616000 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias |
ORPHA:1692 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... |
ORPHA:358 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Eczema, Minima... |
OMIM:618348 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertr... |
OMIM:603552 |
C Syndrome |
|
Renal cortical cysts |
OMIM:211750 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... |
OMIM:601678 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine... |
OMIM:252160 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Dysphagia, Calcinosis, Hydronephrosis, Aminoaciduria |
OMIM:617913 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Recurrent pancreatitis, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney... |
OMIM:145001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... |
OMIM:615287 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Dysphagia, Myoglobinuria, Hypernatremia, Elevated circulating creatin... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231580 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis, Cardiomyopathy, Cirrhosis, Hepatosplenomegaly, Portal hypertension |
OMIM:232500 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Laron Syndrome |
|
Hypoglycemia, Osteoarthritis, Abnormality of the endocrine system, Hypercholesterolemia, Hypohidr... |
ORPHA:633 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Polydipsia, Oral-phar... |
OMIM:219800 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... |
ORPHA:650 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia |
ORPHA:147 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Recurren... |
ORPHA:20 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Hypoglycemia, Insulin resistance, Orthostatic hypotension, Orthostatic syncope, Elevated... |
ORPHA:230 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... |
ORPHA:91500 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... |
ORPHA:79237 |
Acquired Generalized Lipodystrophy |
|
Hypertension, Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cir... |
ORPHA:79086 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Meningocele, Renal cortical cysts, Recurrent aspiration pneumonia, Renal dysplasia, ... |
ORPHA:397715 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstitial nephritis,... |
ORPHA:330015 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Renal agenesis, Dysphagia, Recurrent otitis media |
OMIM:618494 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydronephrosis, Renal agenesis, Urethral stenosis, Renal dysplasia, Megacystis, Duplicated collec... |
OMIM:604292 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... |
ORPHA:75234 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver di... |
OMIM:602114 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Bladder Diverticulum |
|
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... |
OMIM:109820 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Lymphangioleiomyomatosis |
|
Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Abnormal urinary color |
ORPHA:538 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Decreased urine output, Increased circulating interleukin 6,... |
ORPHA:542323 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Hydronephrosis, Myelomeningocele, Ureteral atresia |
OMIM:183802 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Hematuria, Nephritis, ... |
OMIM:614034 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Renal cortical microcysts, Hy... |
OMIM:222470 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nephropathy |
OMIM:266920 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... |
OMIM:605814 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:618265 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Aminoaciduria, Tubulointerstitial nephritis |
OMIM:124000 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Pol... |
ORPHA:528 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:613101 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Dibasicaminoaciduria, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased ... |
ORPHA:158057 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hyperammonemia |
ORPHA:6 |
Coach Syndrome 2 |
|
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulatin... |
OMIM:619111 |
Saccharopinuria |
|
Hypercystinemia, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circulating enzyme lev... |
ORPHA:3124 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... |
ORPHA:90068 |
Erdheim-Chester Disease |
|
Hydronephrosis, Polydipsia, Dysuria, Osteomyelitis, Skin rash, Renal insufficiency |
ORPHA:35687 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemi... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis |
OMIM:616973 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Stage 5 chro... |
ORPHA:54370 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythrode... |
ORPHA:540 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangitis, Pancreatic cysts, Polydipsia, Stage 5 chronic kidney disease, Recurren... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:614922 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... |
ORPHA:2298 |
Seckel Syndrome 10 |
|
Hypertension, Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucos... |
OMIM:617253 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Gastr... |
ORPHA:247598 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellu... |
ORPHA:370 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, ... |
ORPHA:2348 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Dystonia-Aphonia Syndrome |
|
Abnormal urinary odor, Dysphagia |
ORPHA:412217 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... |
ORPHA:412 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Mirizzi Syndrome |
|
Pancreatitis, Hyperbilirubinemia, Dark urine |
ORPHA:521219 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate |
ORPHA:760 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... |
ORPHA:91547 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis, Neurogenic bladder |
OMIM:619218 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated circulating long ... |
OMIM:608836 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Recurrent otitis ... |
ORPHA:254531 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... |
ORPHA:401923 |
Rabson-Mendenhall Syndrome |
|
Hypokalemia, Polydipsia, Long penis, Nephrocalcinosis, Increased C-peptide level |
ORPHA:769 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... |
ORPHA:435651 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Pneumonia, Elevated circulating creatinine concentration, Glomerula... |
ORPHA:247691 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... |
ORPHA:369 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux |
OMIM:613735 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... |
ORPHA:79085 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Bor Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... |
ORPHA:107 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... |
OMIM:618183 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, P... |
ORPHA:69663 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Myelomeningocele |
ORPHA:66637 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... |
OMIM:256300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hypoglycemia, Portal fibrosis, Hepatic fibrosi... |
ORPHA:264580 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Renal insufficiency |
OMIM:611209 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Capillary leak, Infectious enceph... |
ORPHA:36234 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... |
ORPHA:66628 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis, Pneumonia |
OMIM:300209 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, El... |
ORPHA:79240 |
Panhypophysitis |
|
Hyponatremia, Hashimoto thyroiditis, Hyposthenuria, Polydipsia |
ORPHA:95513 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Increased urinary taurine |
OMIM:615501 |
Intermediate Uveitis |
|
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis |
ORPHA:279914 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Purple urine, Red-brown urine, Red urine, Recurrent bacterial skin infec... |
ORPHA:95159 |
Transketolase Deficiency |
|
Elevated circulating ribitol concentration, Seborrheic dermatitis, Renal cyst, Uveitis, Increased... |
ORPHA:488618 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... |
ORPHA:179494 |
Propionic Acidemia |
|
Organic aciduria, Hyperammonemia |
ORPHA:35 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:618620 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration |
ORPHA:35878 |
Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c... |
ORPHA:435660 |
Webb-Dattani Syndrome |
|
Hydronephrosis, Hypernatremia, Vesicoureteral reflux, Neurogenic bladder |
OMIM:615926 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria |
ORPHA:634 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Dysuria, Pancreatitis, Abnormality of the urethra, Renal insufficiency, Co... |
ORPHA:537 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... |
ORPHA:2970 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Prolonged QTc i... |
ORPHA:90065 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Renal insufficiency |
ORPHA:3327 |
Wolfram Syndrome |
|
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr... |
ORPHA:3463 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva... |
ORPHA:158684 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypospadias, 3-Methylglutaconic aciduria, Hyperammonemia |
OMIM:604273 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Hypertriglycer... |
OMIM:615381 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp... |
OMIM:619013 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Hepatitis, Splenomegaly, Increased inflammator... |
ORPHA:158061 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... |
ORPHA:97214 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... |
ORPHA:97292 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Dark yellow urine |
ORPHA:30391 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Seborrhoeic blepharitis, Unconjugated hyperbilirubinemia, Purple urine... |
ORPHA:79277 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration |
OMIM:614025 |
Wolfram Syndrome 1 |
|
Hydronephrosis, Hydroureter, Dysphagia, Neurogenic bladder |
OMIM:222300 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... |
OMIM:255120 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... |
ORPHA:447 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr... |
ORPHA:449400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Dysphagia, Lacticaciduria, Elevated circulating creatine kinase concentrat... |
ORPHA:26791 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased hepatic e... |
OMIM:278000 |
Simple Cryoglobulinemia |
|
Mesangial hypercellularity, Raynaud phenomenon, Microscopic hematuria, Gastrointestinal hemorrhag... |
ORPHA:91139 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic cysts, Hypocalcemia, Chronic kidney disease, Renal magnesiu... |
OMIM:218330 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hypertrophic cardiomyopathy, Focal segmental glomerulosclerosis, Hepatomeg... |
OMIM:617303 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Hypertriglyceridemia |
OMIM:177000 |
Cockayne Syndrome |
|
Keratoconjunctivitis sicca, Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Hype... |
ORPHA:191 |
Primary Sjögren Syndrome |
|
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... |
ORPHA:289390 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Hyperammonemia |
OMIM:618120 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... |
OMIM:211900 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... |
ORPHA:79403 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Cockayne Syndrome Type 1 |
|
Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conjunctivitis |
ORPHA:90321 |
Smith-Magenis Syndrome |
|
Abnormality of the urinary system, Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the... |
OMIM:182290 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Hydronephrosis |
OMIM:300048 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
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Hyperuricemia |
OMIM:240000 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Recombinant Chromosome 8 Syndrome |
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Hydronephrosis |
OMIM:179613 |
Arima Syndrome |
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Renal tubular atrophy, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibro... |
OMIM:243910 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Hypercalciuria, Ureteral stenosis, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Fibronectin Glomerulopathy |
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Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
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