Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep... |
ORPHA:411543 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... |
OMIM:617671 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria, Pancreatitis |
OMIM:145980 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Failure to thrive, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr... |
OMIM:260005 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Hyperuricemia, Dysph... |
OMIM:300322 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis |
OMIM:222900 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... |
ORPHA:199343 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... |
ORPHA:223 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... |
ORPHA:428 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... |
ORPHA:213 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polyuria, Megacystis, Polydipsia, Hypernatremia |
OMIM:304800 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria |
OMIM:606407 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu... |
ORPHA:35710 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,... |
OMIM:300661 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... |
OMIM:145001 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... |
OMIM:612780 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... |
OMIM:263800 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive |
OMIM:614582 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... |
ORPHA:488627 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp... |
ORPHA:358 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Hyperactivity, Nephrolithiasis, Aggressive behavior |
OMIM:620023 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis |
ORPHA:1837 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... |
OMIM:232200 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... |
OMIM:616026 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo... |
ORPHA:139402 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... |
OMIM:203800 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... |
OMIM:615993 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... |
OMIM:232220 |
Flotch Syndrome |
|
Inflammatory abnormality of the eye, Nephrolithiasis, Blepharitis |
ORPHA:2045 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... |
OMIM:616733 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... |
OMIM:241200 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas... |
ORPHA:95409 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... |
OMIM:601678 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Mpdu1-Cdg |
|
Eczema, Elevated circulating creatine kinase concentration, Renal cortical cysts |
ORPHA:79323 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Elevated circulating creatine kinase concentration, Dysphagia |
ORPHA:352447 |
Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:143 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Nephrolithiasis |
ORPHA:2833 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Chronic ... |
ORPHA:330015 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:232500 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral aversion |
ORPHA:134 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:99880 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia, Hypercalciuria |
ORPHA:251274 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium |
ORPHA:231580 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis |
ORPHA:369929 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney, Attention deficit hyperactivit... |
ORPHA:459061 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Renal interstitial edema, Steril... |
ORPHA:91500 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... |
OMIM:232240 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... |
ORPHA:36913 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Thyroiditis, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic ... |
ORPHA:79259 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis |
ORPHA:85285 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity |
OMIM:615996 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinem... |
ORPHA:90041 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... |
ORPHA:31824 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Joubert Syndrome 5 |
|
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... |
OMIM:610188 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Increased urinary glycerol, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Nephrolithiasis, Hypophosphatemia |
ORPHA:93160 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia |
OMIM:615501 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:203400 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Dysphagia, Elevated circulating long chain fatty acid co... |
OMIM:214100 |
Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potassium, Renal salt wast... |
ORPHA:85138 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:610600 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Anorexia, Hyperammonemia, Weight loss, 3-Methylglutaric aciduria, ... |
ORPHA:20 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Weight loss |
ORPHA:97289 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Self-mutilation, Hyperuricemia |
OMIM:308950 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Hypokalemia, Nephrolithiasis, Obesity |
OMIM:219090 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Failure to thrive... |
ORPHA:397715 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis |
ORPHA:91412 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Hypospadias, Galactosuria, Hypoalbuminemia, Increased serum iron, Abno... |
OMIM:222470 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss |
ORPHA:90060 |
C Syndrome |
|
Failure to thrive, Renal cortical cysts |
OMIM:211750 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Polydipsia, Hydronephrosis |
ORPHA:35687 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Acne, Hyperlipidemia, Increased body weight, Nephrolithiasis, R... |
ORPHA:189427 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Leukonychia Totalis |
|
Blepharitis, Nephrolithiasis |
ORPHA:2387 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating uracil concentration, Uraciluria, Elevated circulating thymine concentration... |
OMIM:222748 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Obesity |
OMIM:615982 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Mucopolysaccharidosis, Type X |
|
Nephrolithiasis, Dermatan sulfate excretion in urine |
OMIM:619698 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Panhypophysitis |
|
Hyponatremia, Polydipsia, Hyposthenuria, Hashimoto thyroiditis |
ORPHA:95513 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neona... |
OMIM:124000 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Failure to thrive, Hydrone... |
OMIM:619218 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia |
ORPHA:371 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Pancreatic cy... |
ORPHA:731 |
Alkaptonuria |
|
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Dysphagia,... |
ORPHA:537 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Attention deficit hyperactivity disorder, C... |
OMIM:609757 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phyta... |
OMIM:614866 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:542323 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia |
OMIM:261750 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ... |
ORPHA:36234 |
Joubert Syndrome 20 |
|
Self-mutilation, Renal cyst, Aggressive behavior |
OMIM:614970 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Decreased body weight |
OMIM:618265 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu... |
OMIM:241500 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... |
OMIM:617913 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hepatitis, Weight loss, Hyperuricemia, Failu... |
ORPHA:199299 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556037 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries |
OMIM:604367 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... |
ORPHA:3463 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Abnormality of the bla... |
ORPHA:29073 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:617303 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... |
ORPHA:247691 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... |
ORPHA:699 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Micropenis, Hypospadias, Hypercalciuria |
OMIM:614732 |
Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Cachexia, Anorexia, Myocarditis, Uveitis, Arthritis, Polydi... |
ORPHA:3452 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Compulsive beh... |
ORPHA:534 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... |
ORPHA:188 |
Burkitt Lymphoma |
|
Hyperuricemia |
ORPHA:543 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556030 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia, Obesity |
ORPHA:3157 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis |
ORPHA:722 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammo... |
OMIM:617093 |
Rabson-Mendenhall Syndrome |
|
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level |
ORPHA:769 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries |
ORPHA:79083 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Trisomy X |
|
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia |
ORPHA:3375 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Alkaptonuria |
|
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis |
ORPHA:56 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemi... |
ORPHA:398063 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227990 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Juvenile rheumatoid... |
OMIM:607944 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr... |
ORPHA:449400 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227982 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Seborrheic dermatitis, Uveitis, Renal cyst, Self-injurious be... |
ORPHA:488618 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Sarcoidosis |
|
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... |
ORPHA:797 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn... |
ORPHA:2953 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... |
ORPHA:653 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... |
OMIM:208500 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Renal salt wasting |
OMIM:300200 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... |
ORPHA:2785 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc... |
ORPHA:2237 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy... |
OMIM:617744 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o... |
ORPHA:1727 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Abnormality of body weight, Pneumonia, Ski... |
ORPHA:2298 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Osteoarthritis, Renal phosphate wasting, Renal tubula... |
OMIM:307800 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... |
ORPHA:230 |
Gapo Syndrome |
|
Nephrolithiasis |
ORPHA:2067 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia |
OMIM:614859 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss,... |
ORPHA:60025 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis, Obesity |
OMIM:619185 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Wei... |
ORPHA:361 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Polyphagia, Enuresis, S... |
ORPHA:293987 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Dysphagia, Recurrent otitis media, Hydronephrosis |
OMIM:618494 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Obesit... |
ORPHA:552 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis, Dysphagia |
OMIM:222300 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Keratitis, Polydipsia, Failure to thrive, Polyphagia |
ORPHA:525731 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis, Cholecystitis |
ORPHA:774 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Nephrolithiasis |
OMIM:613848 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Failure to thrive, Hydronephrosis |
ORPHA:488613 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, ... |
OMIM:618440 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Nephrolithiasis, Polycystic ovaries, Polyphagia |
OMIM:608594 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Aggressive behavior, Self-mutilation, Micropenis, Slender build, Hydronephrosis |
ORPHA:364028 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Chronic otitis media,... |
ORPHA:261494 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
ORPHA:79078 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:619762 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Stereotypical hand wringing, Hydronephrosis, Recurrent pneumonia |
OMIM:619179 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the urinary system phys... |
ORPHA:2552 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Nephrolithiasis, Polycystic ov... |
OMIM:269700 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Suleiman-El-Hattab Syndrome |
|
Failure to thrive, Hydronephrosis |
OMIM:618950 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, ... |
ORPHA:79303 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Nephr... |
ORPHA:449427 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Failure to thrive, Hypoproteinemia, Hydronephrosis |
ORPHA:2315 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Small for gestational age, Elevated circulating creati... |
OMIM:301056 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressiv... |
ORPHA:353281 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... |
ORPHA:116 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Decreased serum zinc, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Legius Syndrome |
|
Hyperactivity, Nephrolithiasis, Male urethral meatus stenosis, Attention deficit hyperactivity di... |
ORPHA:137605 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... |
ORPHA:314588 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
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 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... |
ORPHA:800 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:614862 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Lassa Fever |
|
Conjunctivitis, Oliguria, Dysphagia |
ORPHA:99824 |
Al-Gazali Syndrome |
|
Failure to thrive, Hydronephrosis, Recurrent pneumonia |
OMIM:609465 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Cystic Fibrosis |
|
Sinusitis, Bronchiectasis, Nephrolithiasis, Failure to thrive, Decreased body mass index |
ORPHA:586 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pancreatitis, Dysphagia, Hyp... |
OMIM:606721 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, E... |
ORPHA:289176 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... |
OMIM:612736 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Hydron... |
OMIM:611209 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, F... |
ORPHA:90791 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl... |
ORPHA:26791 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Failure to ... |
OMIM:618460 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis, Obesity |
OMIM:619269 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Eisenmenger Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Hyperuricemia, Abnorm... |
ORPHA:97214 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia |
OMIM:235255 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ureter, Nephro... |
ORPHA:798 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... |
ORPHA:544482 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythroderma, Failure to thrive, Hydron... |
OMIM:302960 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Overfriendliness, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal... |
ORPHA:96169 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231625 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis |
ORPHA:912 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Obesity |
ORPHA:110 |
Zttk Syndrome |
|
Failure to thrive, Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Large for gestational age |
OMIM:610733 |
Verheij Syndrome |
|
Small for gestational age, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia |
OMIM:608104 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Hypercalciuria, Nephrolithiasis, Weight loss |
ORPHA:652 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:319213 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
ORPHA:1655 |
Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Enter... |
ORPHA:90051 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis |
ORPHA:568 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Acne, Renal salt wasting, Long penis, Polycystic ovaries, Hypokalemia, Increased urinary 11-deoxy... |
ORPHA:90795 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Oroticaciduria, Low plasma citrulline, Hyperglutaminem... |
OMIM:311250 |
Tarp Syndrome |
|
Neonatal death, Failure to thrive, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Erysipel... |
OMIM:235510 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria, Dysphagia |
ORPHA:101000 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... |
ORPHA:1225 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... |
OMIM:615398 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Small for gestational age, Eczema, Impulsivity... |
OMIM:610443 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Zimmermann-Laband Syndrome 1 |
|
Long penis, Nephrolithiasis |
OMIM:135500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Pneumo... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Pneumo... |
ORPHA:353277 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Failure to thrive, Hydronephrosis, Elevated circulating creatine kinase conce... |
OMIM:608779 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:250989 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... |
OMIM:614080 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Aggressive behavior, Renal atrophy, Attention deficit hyperactivity disorder, Vesico... |
OMIM:618659 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia |
OMIM:618975 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:612513 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Nephrolithiasis, Aspiration pneumonia, Dysphagia, Vesicoureteral reflux, Hy... |
ORPHA:438213 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... |
ORPHA:99826 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Dysphagia, Failure to thr... |
ORPHA:261349 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Hepatitis, Chronic hepatitis, Recurrent otiti... |
OMIM:614921 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Vesicoureteral reflux, Crossed... |
OMIM:300707 |
Cystic Echinococcosis |
|
Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts |
ORPHA:400 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repetitive mannerisms, Hydron... |
OMIM:618653 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent pneumonia, Megacystis, Abnormal d... |
ORPHA:209905 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Neonatal death, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope... |
ORPHA:96092 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Renal cyst,... |
ORPHA:464311 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Acute Promyelocytic Leukemia |
|
Anorexia, Weight loss, Hematuria, Addictive alcohol use, Stomatitis |
ORPHA:520 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Erythroderma |
ORPHA:35173 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Monosomy 22Q13.3 |
|
Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Hydronephrosis, Bruxism, Vesicou... |
ORPHA:48652 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:168558 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal urine potassium concen... |
ORPHA:275761 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:289548 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Impulsivity, Atopic dermatitis, Bruxism, Dysphagia, Urinary urgency, S... |
OMIM:619503 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Hydronep... |
OMIM:618454 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Failure to thrive, Polyc... |
OMIM:214110 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Osteogenesis Imperfecta |
|
Small for gestational age, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Dysphagia |
ORPHA:666 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis, Obesity |
OMIM:201000 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Hyperactivity, Hypospadias, Small for gestational age, Unilateral renal agenes... |
ORPHA:464306 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Self-injuriou... |
ORPHA:847 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubular dysfunction, H... |
ORPHA:562 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Hyperactivity, Failure to thrive in infancy, Ectopic kidney, Self-m... |
ORPHA:96149 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... |
ORPHA:533 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Attention deficit hyperactivity disorder,... |
OMIM:616580 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Bacterial endocarditis |
ORPHA:1054 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Renal agenesis, Small for gestational age, Aggressive behavior, Impuls... |
ORPHA:2044 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Polyph... |
ORPHA:96121 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bruxism, Vesicoureteral reflux, Failure to thrive, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hypospadias, Hydronephrosis |
OMIM:300712 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syn... |
OMIM:557000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia,... |
OMIM:212065 |
Raine Syndrome |
|
Neonatal death, Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis |
ORPHA:99776 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Failure to thrive, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, D... |
OMIM:616973 |
Sickle Cell Anemia |
|
Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
White-Kernohan Syndrome |
|
Hydroureter, Obesity, Horseshoe kidney, Attention deficit hyperactivity disorder, Recurrent otiti... |
OMIM:619426 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit hyperactivity disorder |
OMIM:617557 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias |
ORPHA:2115 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Stillbirth, ... |
OMIM:308050 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Micropenis, Abnormal repetitive mannerisms, Hydronephrosis |
OMIM:301040 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnor... |
ORPHA:369837 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis |
ORPHA:464738 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Chronic otitis ... |
ORPHA:2750 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reactive pr... |
ORPHA:79126 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Hyperactivity, Recurrent pneumonia, Bronchiectasis... |
OMIM:251260 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Panniculitis, Otitis media... |
OMIM:612541 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis |
ORPHA:444072 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Joubert Syndrome 2 |
|
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis |
OMIM:608091 |
Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Atopic dermatitis, Failure to thrive, Hydronephrosis |
OMIM:115150 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... |
ORPHA:90349 |
Immunodeficiency 96 |
|
Recurrent otitis media, Multicystic kidney dysplasia, Eczema |
OMIM:619774 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the eye, Urethral a... |
ORPHA:1896 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren... |
OMIM:270400 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... |
OMIM:619991 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... |
ORPHA:805 |
Tarp Syndrome |
|
Failure to thrive, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj... |
OMIM:620330 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephrosis |
OMIM:309350 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Weight loss |
ORPHA:100078 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... |
OMIM:615287 |
Opitz Gbbb Syndrome |
|
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Recurrent aspir... |
ORPHA:2745 |
Joubert Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Renal cyst, Nephropathy, Self-mutilation |
OMIM:213300 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine le... |
ORPHA:90794 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Leprechaunism |
|
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Dec... |
ORPHA:508 |
Joubert Syndrome 39 |
|
Overweight, Polycystic kidney dysplasia |
OMIM:619562 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Hydronephrosis |
ORPHA:1340 |
Digeorge Syndrome |
|
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... |
OMIM:188400 |
Trisomy 18 |
|
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... |
OMIM:619534 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... |
ORPHA:457212 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Renal cyst |
OMIM:615560 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
X-Linked Hypophosphatemia |
|
Enthesitis, Renal phosphate wasting, Arthritis, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Caroli Disease |
|
Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Weight loss, Polycystic kidney dysplasia, A... |
ORPHA:53035 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz... |
ORPHA:363958 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Stillbi... |
OMIM:229850 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Dubowitz Syndrome |
|
Eczema, Hypospadias, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:235 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Failure to thrive, Hydronephrosis |
OMIM:269150 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal renal artery morphology, ... |
ORPHA:79328 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Pancreatic cysts, Hepatitis, Renal cyst, Polycystic ki... |
OMIM:610199 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Apert Syndrome |
|
Chronic otitis media, Acne, Hydronephrosis |
OMIM:101200 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Recurrent pneumonia, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Renal cyst,... |
OMIM:257300 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Polyphagia, Obesity, Renal cyst, Sel... |
ORPHA:1606 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Attention deficit hyperactivity disorder |
OMIM:191100 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Large for gestational age, Viol... |
OMIM:280000 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morphology, Hepatic cyst... |
ORPHA:284 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis |
ORPHA:97360 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Hydronephrosis, Attention deficit hyperactivity disorder |
ORPHA:2308 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de... |
OMIM:613254 |
Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Oral-pharyngeal dysphagia, Attention deficit hyperactivity disorder, U... |
ORPHA:506358 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis, Bruxism |
ORPHA:352665 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Myositis, Pericarditis, Hyperactivity, Horse... |
ORPHA:3310 |
Floating-Harbor Syndrome |
|
Hypospadias, Aggressive behavior, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Con... |
OMIM:136140 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz... |
ORPHA:2273 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
D-Bifunctional Protein Deficiency |
|
Increased circulating very long-chain fatty acid concentration, Failure to thrive, Renal cyst |
OMIM:261515 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni... |
ORPHA:83617 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Recurrent skin infections, Hydronephrosis |
OMIM:601776 |
Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Vesicou... |
ORPHA:2363 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Abnormal repetitive mannerisms, Recurrent otitis media, Conju... |
OMIM:616268 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys... |
OMIM:617107 |
Syndromic Diarrhea |
|
Small for gestational age, Gastritis, Renal hypoplasia, Colitis, Abnormality of iron homeostasis,... |
ORPHA:84064 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Micropenis, Renal hypoplasia, Abdominal obesity |
OMIM:619321 |
Cystic Fibrosis |
|
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Failure to thrive, Chronic sinusitis, Pancre... |
OMIM:219700 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce... |
OMIM:194050 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Chronic sinusitis, Renal cyst, Dysphagia |
OMIM:615636 |
Charge Syndrome |
|
Horseshoe kidney, Attention deficit hyperactivity disorder, Compulsive behaviors, Vesicoureteral ... |
ORPHA:138 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Hypercalciuria, Uveitis, Weight loss, Arthritis, Inflamm... |
OMIM:181000 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Multip... |
ORPHA:892 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney di... |
OMIM:266920 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal dea... |
OMIM:265380 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper tantrums, Atte... |
ORPHA:73223 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Small for gestational age, Hypospadias, Impulsivity, Self-mutilation, Truncal obes... |
OMIM:180849 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Attention deficit hyperactivity d... |
ORPHA:363700 |
Campomelic Dysplasia |
|
Failure to thrive, Hypospadias, Hydronephrosis |
OMIM:114290 |
Caroli Syndrome |
|
Abnormality of the kidney, Cholangitis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Polycy... |
ORPHA:480520 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Renal hypoplasia, Compulsive behav... |
OMIM:135900 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Failure to thrive, Hypospadias, Hypertriglyceridemia, Recurre... |
ORPHA:3455 |
Charge Syndrome |
|
Renal agenesis, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Dysphagia, Mic... |
OMIM:214800 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi... |
OMIM:147920 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL cholesterol concen... |
OMIM:243800 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Dysphagia |
OMIM:606170 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Attention deficit hyperactivity disorder, Hypospadias, Renal cyst |
OMIM:616975 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Cholangitis, Recurrent pneumonia, Renal cyst, Hyperbilirubinemia |
OMIM:613610 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Aggressive behavior, Renal cyst, Keratoconjunctivitis sicca, Attention deficit hyper... |
ORPHA:495875 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Dysphagia, Ch... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Enter... |
ORPHA:2152 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Renal hypoplasia, Decreased body weight, Hydronephrosis |
OMIM:261540 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Hypophosphatemic rickets, Cort... |
ORPHA:51608 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Dysphagia, Du... |
ORPHA:261552 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Hypospadias, Hydronephrosis |
OMIM:304120 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Cyst of the ductus choledochus, Renal dysplasia |
ORPHA:480880 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbilirubinemia, Microp... |
OMIM:210710 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Atopic dermatitis, Dysphagia, Failure to thrive, Hydronephrosis |
OMIM:619472 |
Proteus Syndrome |
|
Enlarged polycystic ovaries, Cachexia, Long penis, Renal cyst |
ORPHA:744 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |