Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Threoninemia |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Saccharopinuria |
|
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... |
OMIM:268700 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
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 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100985 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu... |
ORPHA:411543 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Hyperbeta-alaninemia |
OMIM:237400 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency |
OMIM:610250 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Severe short stature |
ORPHA:2278 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Polyuria, Short stature |
OMIM:125800 |
Rudiger Syndrome |
|
Micropenis, Ureterovesical stenosis |
OMIM:268650 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Polyuria, Short stature |
OMIM:304800 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... |
OMIM:229100 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:605280 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:247990 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature |
ORPHA:3199 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circ... |
OMIM:612780 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604805 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607152 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Saccharopinuria |
|
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... |
ORPHA:3124 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Intrauterine growth retardation, Functional abnormality of the bladder |
OMIM:620379 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Valinemia |
|
Hypervalinemia, Valinuria |
OMIM:277100 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Hypocalciuria, Increased ... |
OMIM:263800 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature |
ORPHA:417 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Increased bl... |
ORPHA:251004 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:85285 |
Lesch-Nyhan Syndrome |
|
Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia |
OMIM:300322 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:100994 |
Image Syndrome |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:613096 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... |
ORPHA:223 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h... |
ORPHA:97362 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:603563 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ... |
OMIM:241200 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:600363 |
Hartnup Disorder |
|
Short stature, Neutral hyperaminoaciduria |
OMIM:234500 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Galactose Epimerase Deficiency |
|
Growth delay, Aminoaciduria |
ORPHA:79238 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder |
ORPHA:2571 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... |
ORPHA:160 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:182600 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607565 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Primary Pulmonary Hypoplasia |
|
Increased circulating surfactant protein level, Intrauterine growth retardation, Ureteral stenosis |
ORPHA:2257 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Argininosuccinic Aciduria |
|
Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Spinocerebellar Ataxia Type 25 |
|
Urinary urgency |
ORPHA:101111 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Short stature, Urolithiasis, Hyperuricosuria, Hyperuricemia, Ur... |
OMIM:300661 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary bladder sphincter dysfunction, Urinary incontinence, Elevated circulating creatine kinase... |
ORPHA:306511 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:231445 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria |
OMIM:615158 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Urinary incontinence |
OMIM:126200 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Urinary bladder sphincter dysfunction |
OMIM:610357 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604187 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:182601 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydroneph... |
OMIM:615926 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder |
ORPHA:71211 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Hypophosphatemia, Nephrocalcinosis, ... |
OMIM:616026 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary urgency, Urinary incontinence |
ORPHA:444099 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Spastic Paraplegia 16, X-Linked |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:300266 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Urinary urgency, Growth delay |
ORPHA:100984 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu... |
OMIM:243910 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
OMIM:618265 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... |
ORPHA:2438 |
Galactosemia I |
|
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Urinary incontinence |
ORPHA:320365 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Abnormal renal corti... |
OMIM:616733 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Short stature, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Tetraploidy |
|
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency |
ORPHA:320355 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia |
ORPHA:178029 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Growth delay, Abnormality of the urinary system, Ureteral stenosis, Short stature |
ORPHA:2719 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Short stature, Elevated circulating creatine kinase concentration, Methylmalonic a... |
ORPHA:1933 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Postnatal growth retardation, Hypera... |
OMIM:617093 |
Netherton Syndrome |
|
Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Aminoaciduria, Hypoka... |
ORPHA:213 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:206583 |
Wolfram Syndrome 1 |
|
Growth delay, Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Hypoka... |
OMIM:617913 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Postnatal growth retardation, Hypercalci... |
OMIM:227810 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:3115 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Severe postnatal growth retardati... |
ORPHA:2237 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... |
OMIM:620366 |
Recombinant Chromosome 8 Syndrome |
|
Growth delay, Postnatal growth retardation, Hydronephrosis |
OMIM:179613 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay |
ORPHA:1826 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary urgency, Urinary incontinence |
ORPHA:100989 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency |
ORPHA:171612 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556030 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Short stature, Hydronephrosis |
OMIM:620141 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Dermotrichic Syndrome |
|
Aminoaciduria, Proportionate short stature |
ORPHA:99688 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda... |
ORPHA:314585 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Spinocerebellar Ataxia 42 |
|
Urinary urgency, Urinary incontinence |
OMIM:616795 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine crystalluria |
OMIM:606407 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604360 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary urgency, Urinary incontinence |
OMIM:612319 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder |
DECIPHER:45 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
Toluene Embryopathy |
|
Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Hydronephrosis |
ORPHA:531151 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Hydronephr... |
OMIM:269150 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Postnatal growth retardation, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria... |
OMIM:610198 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Functional abnormality of the bladder |
ORPHA:100996 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
22Q11.2 Duplication Syndrome |
|
Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Tryptophanuria With Dwarfism |
|
Severe short stature, Tryptophanuria |
OMIM:276100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Joubert Syndrome 37 |
|
Micropenis, Short stature, Hydronephrosis |
OMIM:619185 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction |
ORPHA:320401 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Intr... |
OMIM:180860 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... |
ORPHA:261290 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus, Hydronephro... |
ORPHA:3378 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency |
OMIM:608703 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Short stature |
ORPHA:1035 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hypospadias, Hydronephrosis |
OMIM:220210 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency |
ORPHA:100999 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:18 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Melnick-Needles Syndrome |
|
Stillbirth, Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia |
OMIM:615501 |
Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder |
ORPHA:99015 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607259 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sh... |
OMIM:301056 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... |
OMIM:192350 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Growth delay, Decreased serum zinc, Intrauterine growth retardation... |
ORPHA:541423 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Hematuria |
ORPHA:488 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... |
OMIM:603471 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
Spastic Paraplegia Type 7 |
|
Urinary urgency |
ORPHA:99013 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:270700 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Intrauterine growth retardation, Hypoproteinemia... |
ORPHA:2315 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Growth delay, Urinary retention, Urinary incontinence, Short stature |
OMIM:616586 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
Pandas |
|
Enuresis |
ORPHA:66624 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:488613 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Postnatal... |
OMIM:611209 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Abnormality of the kidney |
ORPHA:53721 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Short stature |
OMIM:249270 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Kury-Isidor Syndrome |
|
Growth delay, Hydronephrosis |
OMIM:619762 |
Baller-Gerold Syndrome |
|
Short stature, Abnormality of the ureter, Abnormal localization of kidney, Growth delay, Vesicour... |
ORPHA:1225 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency, Neurogenic bladder |
OMIM:611390 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... |
ORPHA:391641 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias, Short stature |
ORPHA:2522 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Arachnoiditis |
|
Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Severe short stature, Hydronephrosis, Infancy onset short-tru... |
ORPHA:444072 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid |
OMIM:176000 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Short stature, Vesicoureteral reflux, Hydronephrosis, Renal du... |
ORPHA:96169 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Argininemia |
|
Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria |
OMIM:207800 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary urgency, Short stature, Urinary incontinence |
OMIM:606071 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Mesomelia-Synostoses Syndrome |
|
Short stature, Hydronephrosis |
ORPHA:2496 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency |
OMIM:609195 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela... |
OMIM:252160 |
Sialidosis Type 1 |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... |
ORPHA:812 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin... |
ORPHA:2510 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Growth delay, Moderate albuminuria, Hydronephrosis, Proportionate short stature |
OMIM:619269 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... |
ORPHA:1297 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... |
OMIM:208085 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis, Short stature |
OMIM:619648 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Growth delay, Short stature, Dysuria |
ORPHA:101000 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Micropenis, Hydrone... |
OMIM:612513 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Hydronephrosis |
OMIM:610733 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
Intellectual Disability, Buenos-Aires Type |
|
Short stature, Hydronephrosis |
ORPHA:3079 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Short stature, Hydronephrosis |
ORPHA:364028 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary urgency, Urinary incontinence |
ORPHA:100993 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence |
ORPHA:79093 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Intrauterine growth retardation |
OMIM:270100 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Short stature, Vesicoureteral reflux, Intrauterine growth... |
OMIM:300707 |
Branchioskeletogenital Syndrome |
|
Micropenis, Ureteral stenosis, Bladder exstrophy, Penoscrotal hypospadias |
ORPHA:1299 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemi... |
ORPHA:1655 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Renal cyst, Vesicoureteral ... |
ORPHA:261494 |
Zttk Syndrome |
|
Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth delay, Intrauterine ... |
OMIM:617140 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Short stature |
ORPHA:3409 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Hydronephrosis |
OMIM:620327 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Proteinuria, Multiple bladder dive... |
ORPHA:2728 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Hydronephrosis |
ORPHA:7 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Methyl... |
OMIM:612073 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Short stature, Elevated circulating creatine kinase concen... |
ORPHA:52430 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Neona... |
OMIM:601186 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Postnatal growth retardation, Renal cyst, Hyperbilirub... |
ORPHA:79303 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Growth delay, Short stature, Hydronephrosis |
ORPHA:457193 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Growth delay, Neurogenic bladder |
OMIM:616973 |
Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... |
OMIM:614527 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Urinary urgency |
OMIM:619621 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Hydronephrosis |
OMIM:619179 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency |
OMIM:601338 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet... |
ORPHA:96179 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency |
OMIM:619286 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Growth del... |
OMIM:608779 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Grade III v... |
OMIM:619522 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:302960 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Urinary urgency, Short stature |
OMIM:275900 |
Spinocerebellar Ataxia Type 13 |
|
Urinary urgency, Short stature, Urinary incontinence |
ORPHA:98768 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Glandu... |
ORPHA:2473 |
Adrenoleukodystrophy |
|
Elevated circulating long chain fatty acid concentration, Urinary bladder sphincter dysfunction, ... |
OMIM:300100 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicourete... |
OMIM:235510 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Short stature, Hydronephrosis |
ORPHA:35173 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Growth delay, Short stature, Glandular hypospadias |
ORPHA:1358 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria |
ORPHA:95626 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
Aredyld Syndrome |
|
Intrauterine growth retardation, Abnormality of the ureter, Short stature |
ORPHA:1133 |
Alexander Disease Type Ii |
|
Urinary bladder sphincter dysfunction |
ORPHA:363722 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Spastic/hyperactive bladder |
ORPHA:100991 |
Spinocerebellar Ataxia 10 |
|
Urinary urgency, Urinary incontinence |
OMIM:603516 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Renal h... |
OMIM:146510 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... |
OMIM:618460 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Cat Eye Syndrome |
|
Short stature, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:115470 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Incr... |
ORPHA:79276 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Tarp Syndrome |
|
Neonatal death, Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Short stature, Renal hypoplasia/aplasia |
ORPHA:1770 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis, Short stature |
ORPHA:912 |
Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Functional abnormality of the bladder, Horseshoe kid... |
ORPHA:96148 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:96061 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary urgency, Short stature, Urinary incontinence |
OMIM:601162 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ... |
ORPHA:818 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ... |
OMIM:207900 |
Cln3 Disease |
|
Urinary bladder sphincter dysfunction |
ORPHA:228346 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
D-Glyceric Aciduria |
|
Growth delay, Aminoaciduria, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Growth delay, Pollakisuria, Urinary retention, Short stature |
ORPHA:447760 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hypoproteinemia, Hydronephrosis, Hypocalcemia |
OMIM:235255 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Intrauterine growth retardation, Short stature, Hydronephrosis |
ORPHA:250989 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney |
ORPHA:459061 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Lassa Fever |
|
Oliguria |
ORPHA:99824 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Pelvis-Shoulder Dysplasia |
|
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... |
ORPHA:2839 |
Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Elevated circulating creatine kinase concentration, Growth delay, Delayed puberty,... |
OMIM:614921 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis |
ORPHA:254528 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Urinary urgency |
OMIM:609270 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Carpenter Syndrome 1 |
|
Hydroureter, Short stature, Hydronephrosis |
OMIM:201000 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis |
ORPHA:289483 |
Raine Syndrome |
|
Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Aminoaciduria, Elevated hepatic iron concentration |
OMIM:614946 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia, Neonatal deat... |
OMIM:619055 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
Okamoto Syndrome |
|
Urinary incontinence, Unilateral renal hypoplasia, Severe postnatal growth retardation, Ureterope... |
ORPHA:2729 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Micropenis, Hydronephrosis |
OMIM:617798 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Short stature, Vesicoureteral reflux, Intrauterine growth ret... |
OMIM:610443 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Postnatal growth retardation, Growth delay, Micropenis, Hydronephrosis |
OMIM:301040 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence |
ORPHA:466722 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... |
OMIM:308050 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Short stature, Hypocalcemia, Intrauterine growth retardation, Hydronephrosis |
OMIM:300712 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Intrauterine growth retardation, Vesicovaginal fistula, Neona... |
OMIM:300896 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Intrauterine growth... |
ORPHA:99776 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction |
ORPHA:43 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Polycystic kidney dyspla... |
OMIM:214110 |
Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Iatrogenic Botulism |
|
Urinary retention |
ORPHA:254509 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic/hyperactive bladder |
ORPHA:137898 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Growth delay |
OMIM:616084 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Hydronephrosis |
ORPHA:1780 |
Spinocerebellar Ataxia Type 42 |
|
Urinary urgency, Urinary incontinence |
ORPHA:458803 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Growth delay, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater... |
ORPHA:90324 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Short stature, Increased circulating ferritin concentration, Stage 5 chronic kidne... |
OMIM:222700 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Spinocerebellar Ataxia Type 10 |
|
Urinary urgency |
ORPHA:98761 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
2P15P16.1 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria |
ORPHA:35687 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Polyuria |
OMIM:606721 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnorma... |
ORPHA:819 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Intrauterine growth retardation, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:247262 |
Spinocerebellar Ataxia 2 |
|
Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:183090 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enuresis, Recurrent urinary tract infections, Hypospadias |
OMIM:619293 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary urgency, Pollakisuria, Urinary incontinence |
ORPHA:447753 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Inhalational Botulism |
|
Urinary retention |
ORPHA:254504 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Short stature, Postnatal growth retardation, Micropenis, Growth dela... |
OMIM:147920 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Delayed puberty, Intraut... |
ORPHA:52 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Pelizaeus-Merzbacher Disease |
|
Urinary urgency, Short stature |
OMIM:312080 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Short stature, Renal dysplasia |
OMIM:300968 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal rena... |
ORPHA:2785 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con... |
ORPHA:319213 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Abnormality of the ureter, Hypospadias, Short stature |
ORPHA:2311 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Short stature, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Monosomy 9P |
|
Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Birth length less than 3rd percentile, Intrau... |
ORPHA:464311 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure |
ORPHA:90051 |
Campomelic Dysplasia |
|
Short stature, Hydronephrosis |
ORPHA:140 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis |
ORPHA:589821 |
Eec Syndrome |
|
Hypospadias, Short stature, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hy... |
ORPHA:1896 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Fatal Familial Insomnia |
|
Urinary retention |
OMIM:600072 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Parkinson Disease, Late-Onset |
|
Urinary urgency |
OMIM:168600 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Botulism |
|
Urinary retention |
ORPHA:1267 |
Perineural Cyst |
|
Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:65250 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Urinary urgency |
OMIM:270550 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Short stature, Unilateral renal agenesis, Renal cyst, Intrauterine growth retardatio... |
ORPHA:464306 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Hypospadias, Unilateral renal agenesis, Growth delay, Enuresis, Hydronephrosis |
ORPHA:96121 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Abnormal circulating fatty-acid concentration, Urinary urgency, Urinary ret... |
ORPHA:139399 |
Machado-Joseph Disease |
|
Urinary bladder sphincter dysfunction |
OMIM:109150 |
3Mc Syndrome 1 |
|
Growth delay, Postnatal growth retardation, Hydronephrosis |
OMIM:257920 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Foodborne Botulism |
|
Urinary retention |
ORPHA:228371 |
Distal Deletion 12Q |
|
Short stature, Ectopic kidney, Growth delay, Polycystic kidney dysplasia, Vesicoureteral reflux, ... |
ORPHA:96149 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... |
ORPHA:358 |
Trisomy 18 |
|
Short stature, Abnormality of the upper urinary tract, Growth delay, Intrauterine growth retardat... |
ORPHA:3380 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Opitz Gbbb Syndrome |
|
Hypospadias, Short stature, Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2745 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Cousin Syndrome |
|
Disproportionate short stature, Rhizomelia, Hydronephrosis |
OMIM:260660 |
Parkinson Disease 1, Autosomal Dominant |
|
Urinary urgency |
OMIM:168601 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hydron... |
ORPHA:235 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Nijmegen Breakage Syndrome |
|
Intrauterine growth retardation, Recurrent urinary tract infections, Short stature, Hydronephrosis |
OMIM:251260 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Growth delay, Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Hydronephrosis |
OMIM:115150 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary urgency, Urinary incontinence |
OMIM:146500 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Abnormal renal artery morphology, Hyd... |
ORPHA:79328 |
Tarp Syndrome |
|
Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Spinocerebellar Ataxia 1 |
|
Urinary bladder sphincter dysfunction |
OMIM:164400 |
Tenorio Syndrome |
|
Enuresis |
OMIM:616260 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Hydronephrosis |
ORPHA:1340 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Growth delay, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Postnatal growth retardation, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Hydronephrosis |
OMIM:229850 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Short stature, Dilatation of the renal pelvis, Stage 5 chronic kidne... |
ORPHA:2044 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Growth delay... |
ORPHA:79408 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hyperammonemia |
OMIM:615486 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... |
ORPHA:79102 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Friedreich Ataxia |
|
Urinary bladder sphincter dysfunction |
ORPHA:95 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Short stature, Functional abnormality of the bladder, Renovascular hypertension, Growth delay, Re... |
ORPHA:391487 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, Fetal pyelectasis,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, Fetal pyelectasis,... |
ORPHA:363958 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Apert Syndrome |
|
Rhizomelic arm shortening, Hydronephrosis |
OMIM:101200 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Delayed puberty, ... |
ORPHA:3463 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... |
OMIM:615287 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Growth delay, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Growth delay, Hydronephrosis |
ORPHA:352665 |
Charge Syndrome |
|
Short stature, Postnatal growth retardation, Horseshoe kidney, Delayed puberty, Vesicoureteral re... |
ORPHA:138 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Hydronephrosis |
OMIM:600383 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Growth delay, Intrauterine growth retardation, Hydro... |
ORPHA:2308 |
Autosomal Recessive Robinow Syndrome |
|
Disproportionate short-limb short stature, Hypoplasia of penis, Multicystic kidney dysplasia, Hyd... |
ORPHA:1507 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal dea... |
OMIM:265380 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Short stature, Pro... |
ORPHA:534 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Short stature, Conjugated hyperbilirubinemia, Increased circulat... |
OMIM:619534 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Short stature, Nephrolithiasis, Growth delay, Ab... |
ORPHA:353281 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Organic aciduria, Short stature, Galactosuria |
ORPHA:85276 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... |
ORPHA:709 |
Schinzel-Giedion Syndrome |
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Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... |
ORPHA:798 |
Alkaptonuria |
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Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
Hereditary Late-Onset Parkinson Disease |
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Spastic/hyperactive bladder |
ORPHA:411602 |
Chime Syndrome |
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Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Robinow Syndrome |
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Multicystic kidney dysplasia, Short stature, Webbed penis, Micropenis, Hydronephrosis |
ORPHA:97360 |
Kanzaki Disease |
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Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
Osteogenesis Imperfecta, Type Vii |
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Rhizomelia, Short stature, Hydronephrosis |
OMIM:610682 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Postnatal growth retardation, Intrauterine growth retardation, Micropenis, Hydronephrosis |
ORPHA:83617 |
Acrorenal-Mandibular Syndrome |
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Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney dysplasia, I... |
OMIM:200980 |
Superficial Siderosis |
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Functional abnormality of the bladder |
ORPHA:247245 |
Arachnoid Cyst |
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Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:2356 |
Pudendal Neuralgia |
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Pollakisuria, Dysuria |
ORPHA:60039 |
Floating-Harbor Syndrome |
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Hypospadias, Short stature, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethra... |
OMIM:136140 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Short stature, Decreased serum iron, Nephrolithiasis, Vesicoureteral reflux, Hydronephrosis |
ORPHA:438213 |
Parkinson Disease 14, Autosomal Recessive |
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Elevated circulating creatine kinase concentration, Nocturia |
OMIM:612953 |
Hydrolethalus Syndrome 1 |
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Intrauterine growth retardation, Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Renal hypo... |
OMIM:135900 |
Acute Transverse Myelitis |
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Decreased circulating copper concentration, Urinary bladder sphincter dysfunction, Urinary retent... |
ORPHA:139417 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Postna... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Postna... |
ORPHA:353277 |
Arboleda-Tham Syndrome |
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Growth delay, Intrauterine growth retardation, Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neonatal death |
OMIM:124000 |
Tetrasomy 9P |
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Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Intr... |
ORPHA:3310 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Urinary urgency, Recurrent urinary tract infections, Urinary retention |
ORPHA:99027 |
Isolated Posterior Meningocele |
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Enuresis |
ORPHA:268810 |
Digeorge Syndrome |
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Renal insufficiency, Short stature, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Rena... |
OMIM:188400 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Campomelic Dysplasia |
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Disproportionate short-limb short stature, Neonatal short-limb short stature, Hypospadias, Hydron... |
OMIM:114290 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2273 |
Doors Syndrome |
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Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Renal cyst, Hydroneph... |
ORPHA:1606 |
Robinow Syndrome, Autosomal Dominant 1 |
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Rhizomelia, Short stature, Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Lacrimoauriculodentodigital Syndrome |
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Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Short stature, Wide penis,... |
ORPHA:3455 |
Rubinstein-Taybi Syndrome 1 |
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Hypospadias, Short stature, Postnatal growth retardation, Growth delay, Hydronephrosis |
OMIM:180849 |
Williams-Beuren Syndrome |
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Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Abnormal r... |
OMIM:194050 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Rhizomelia, Postnatal growth retardation, Renal hypoplasia, Bi... |
OMIM:261540 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short... |
ORPHA:93271 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Abnormal renal morphology, Short stature, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Otopalatodigital Syndrome, Type Ii |
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Hypospadias, Short stature, Postnatal growth retardation, Stillbirth, Hydronephrosis |
OMIM:304120 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Short stature, Horseshoe kidney, Bifid ureter, Hydronephrosis |
OMIM:305600 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Short stature, Hyperlipidemia, Hyperkalemia, Enuresis, Delayed puberty |
ORPHA:293987 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Elevated circulating creatine kinase concentration, Nocturia |
ORPHA:254892 |
Sacral Defect With Anterior Meningocele |
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Neurogenic bladder, Urinary retention |
OMIM:600145 |
Schwartz-Jampel Syndrome |
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Short stature, Elevated circulating creatine kinase concentration, Abnormality of the ureter, Nep... |
ORPHA:800 |
Charge Syndrome |
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Renal agenesis, Postnatal growth retardation, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, D... |
OMIM:214800 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Enuresis |
ORPHA:369950 |
Johanson-Blizzard Syndrome |
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Hypospadias, Short stature, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Con... |
OMIM:243800 |
Meckel Syndrome, Type 1 |
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Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Elevated amniotic fluid alp... |
OMIM:249000 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hypocalcemia, Hydronephrosis |
OMIM:620330 |
Xeroderma Pigmentosum |
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Aminoaciduria, Short stature |
ORPHA:910 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hydronephrosis, Short stature, Renal dysplasia, Delayed puberty |
ORPHA:480880 |
Mowat-Wilson Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Short... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Chordee, Vesicour... |
ORPHA:261537 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
Genitopatellar Syndrome |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Congenital Tracheal Stenosis |
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Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Duplication of re... |
ORPHA:261552 |
Viss Syndrome |
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Short stature, Hydronephrosis |
OMIM:619472 |
Alström Syndrome |
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Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Unilateral renal agenesis, Urinary urgency, Hypocalcemia, Hypomagnesemia, Micropenis, Pelvic kidney |
OMIM:619503 |