Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Vesicoureteral Reflux 8 |
|
Duplicated collecting system, Recurrent urinary tract infections, Vesicoureteral reflux |
OMIM:615963 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria |
ORPHA:95626 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux |
OMIM:605192 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
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 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Urinary bladder sphincter dysfunction |
ORPHA:100985 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... |
ORPHA:261222 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency |
OMIM:610250 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:605280 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Urinary retention |
ORPHA:447760 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607152 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary urgency, Pollakisuria, Urinary incontinence |
ORPHA:447753 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604805 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:244600 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Elevated circulating creatine kinase concentration |
ORPHA:268 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder |
OMIM:300076 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:100994 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:613096 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Elevated circulating creatine kinase concentration, Unilateral renal hypop... |
OMIM:619955 |
8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux |
ORPHA:228399 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:603563 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:600363 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Pollakisuria, Urinary incontinence, Enuresis nocturna |
ORPHA:171629 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder |
ORPHA:2571 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder |
OMIM:620379 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase... |
ORPHA:306511 |
Currarino Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias |
ORPHA:1552 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Pudendal Neuralgia |
|
Pollakisuria, Dysuria |
ORPHA:60039 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:182600 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607565 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia |
OMIM:616854 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:231445 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasia |
ORPHA:85284 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Spinocerebellar Ataxia Type 25 |
|
Urinary urgency |
ORPHA:101111 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Urinary incontinence |
OMIM:126200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Urinary bladder sphincter dysfunction |
OMIM:610357 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604187 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:182601 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder |
ORPHA:71211 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pollakisuria |
OMIM:227330 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
ORPHA:464288 |
Spastic Paraplegia 16, X-Linked |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:300266 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary urgency, Urinary incontinence |
ORPHA:444099 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,... |
ORPHA:69076 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Vesicoureteral reflux, Distal urethral duplication, Renal hypoplasia/aplasia |
ORPHA:2549 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux |
OMIM:618828 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Renal atrophy, Hypospadias |
OMIM:618659 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Nijmegen Breakage Syndrome |
|
Pollakisuria |
ORPHA:647 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... |
ORPHA:2438 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux |
ORPHA:3208 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Urinary incontinence |
ORPHA:320365 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Ve... |
OMIM:301056 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney |
OMIM:609053 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency |
ORPHA:320355 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias |
OMIM:617466 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia |
ORPHA:178029 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:206583 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hypospadias, Horseshoe kidney |
OMIM:619103 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux |
ORPHA:3078 |
Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux |
OMIM:614261 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Urinary urgency |
ORPHA:100984 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
ORPHA:238769 |
Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux |
OMIM:615879 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Hypospadias |
ORPHA:494344 |
Chromosome 5P13 Duplication Syndrome |
|
Vesicoureteral reflux |
OMIM:613174 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication |
ORPHA:83628 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Trichorhinophalangeal Syndrome Type 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections |
ORPHA:502 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux |
OMIM:120200 |
Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction |
ORPHA:3115 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Vesicoureteral reflux |
OMIM:618797 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency |
ORPHA:171612 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis |
OMIM:619951 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary urgency, Urinary incontinence |
ORPHA:100989 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... |
ORPHA:29073 |
Distal Deletion 10Q |
|
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... |
ORPHA:96148 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Spinocerebellar Ataxia 42 |
|
Urinary urgency, Urinary incontinence |
OMIM:616795 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Micropenis |
OMIM:617159 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Horseshoe kidney |
OMIM:612562 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Kleefstra Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Abnormality of the kidney |
ORPHA:261652 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604360 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder |
DECIPHER:45 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary urgency, Urinary incontinence |
OMIM:612319 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction |
ORPHA:320401 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... |
OMIM:618885 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia |
OMIM:603467 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:140952 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis |
ORPHA:96147 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... |
OMIM:176450 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux |
OMIM:614749 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Functional abnormality of the bladder |
ORPHA:100996 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Congenital posterior urethral valve, Vesicoureteral reflux, M... |
OMIM:300000 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder |
ORPHA:99015 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration |
OMIM:619377 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency |
OMIM:608703 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency |
ORPHA:100999 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Chromosome 10Q26 Deletion Syndrome |
|
Vesicoureteral reflux, Micropenis |
OMIM:609625 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607259 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux |
OMIM:617394 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... |
OMIM:612780 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:270700 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Arachnoiditis |
|
Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Spastic Paraplegia Type 7 |
|
Urinary urgency |
ORPHA:99013 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Pandas |
|
Enuresis |
ORPHA:66624 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency, Neurogenic bladder |
OMIM:611390 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Hematuria |
ORPHA:488 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Abnormality of the kidney |
ORPHA:53721 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Igg4-Related Aortitis |
|
Hydronephrosis, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... |
ORPHA:959 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... |
OMIM:118450 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Chops Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
OMIM:616368 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaciduria, Hypocal... |
OMIM:617913 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux |
OMIM:618076 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux |
OMIM:605039 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency |
OMIM:609195 |
Brain-Lung-Thyroid Syndrome |
|
Vesicoureteral reflux, Hypospadias, Megacystis |
ORPHA:209905 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Distal Duplication 17Q |
|
Vesicoureteral reflux, Renal duplication |
ORPHA:3379 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevated circulati... |
ORPHA:340 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence |
ORPHA:79093 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Adrenoleukodystrophy |
|
Elevated circulating long chain fatty acid concentration, Urinary bladder sphincter dysfunction, ... |
OMIM:300100 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary urgency, Urinary incontinence |
ORPHA:100993 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Hypospadias |
ORPHA:2315 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux |
OMIM:609460 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
X-Linked Intellectual Disability, Nascimento Type |
|
Vesicoureteral reflux, Micropenis, Hypospadias, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo... |
OMIM:263800 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Urinary urgency |
OMIM:619621 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency |
OMIM:601338 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary retention, Urinary incontinence, Elevated urinary delta-aminolevulinic acid |
OMIM:176000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple bladder diver... |
ORPHA:90349 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency |
OMIM:619286 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Alexander Disease Type Ii |
|
Urinary bladder sphincter dysfunction |
ORPHA:363722 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Spastic/hyperactive bladder |
ORPHA:100991 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Micropenis, Hypospadias, Vesicoureteral reflux |
OMIM:617063 |
Spinocerebellar Ataxia 10 |
|
Urinary urgency, Urinary incontinence |
OMIM:603516 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:96149 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Bilateral fetal pyelectasis, Elevated hepatic iron concentration, V... |
OMIM:300868 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Decreased serum zinc, Hydronephrosis |
ORPHA:541423 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary urgency, Urinary incontinence |
OMIM:606071 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Vesicoureteral reflux, Micropenis |
OMIM:616894 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary retention, Urinary incontinence |
OMIM:616586 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis |
ORPHA:289483 |
Cln3 Disease |
|
Urinary bladder sphincter dysfunction |
ORPHA:228346 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Horseshoe kidney, Axial ... |
OMIM:274000 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... |
ORPHA:116 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Urinary urgency |
OMIM:609270 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Neurogenic bladder, Elevated circulating creatine kinase concentration |
OMIM:608779 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... |
ORPHA:79276 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar... |
ORPHA:95699 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Urinary urgency |
OMIM:275900 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... |
ORPHA:2911 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
ORPHA:1655 |
Iatrogenic Botulism |
|
Urinary retention |
ORPHA:254509 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
Wound Botulism |
|
Urinary retention |
ORPHA:178475 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Spinocerebellar Ataxia Type 13 |
|
Urinary urgency, Urinary incontinence |
ORPHA:98768 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
17Q24.2 Microdeletion Syndrome |
|
Vesicoureteral reflux |
ORPHA:529962 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence |
ORPHA:466722 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... |
ORPHA:363958 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction |
ORPHA:43 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis |
OMIM:302960 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Vesicoureteral reflux, Micropenis |
OMIM:617330 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology... |
OMIM:194050 |
Inhalational Botulism |
|
Urinary retention |
ORPHA:254504 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic/hyperactive bladder |
ORPHA:137898 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:601162 |
Spinocerebellar Ataxia Type 42 |
|
Urinary urgency, Urinary incontinence |
ORPHA:458803 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Spinocerebellar Ataxia Type 10 |
|
Urinary urgency |
ORPHA:98761 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycystic kidney dysplasia, V... |
ORPHA:567 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enuresis, Recurrent urinary tract infections, Hypospadias |
OMIM:619293 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria |
ORPHA:35687 |
Spinocerebellar Ataxia 2 |
|
Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:183090 |
Fatal Familial Insomnia |
|
Urinary retention |
OMIM:600072 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Williams Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Hypercalcemia, Elev... |
ORPHA:904 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Vesicoureteral reflux, Hypospadias, Horseshoe kidney |
ORPHA:444077 |
Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux |
OMIM:619869 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Elevated circulating creatine kinase concentration |
OMIM:614921 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis |
ORPHA:99776 |
Parkinson Disease, Late-Onset |
|
Urinary urgency |
OMIM:168600 |
Solitary Fibrous Tumor |
|
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention |
ORPHA:2126 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis |
OMIM:601186 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... |
ORPHA:353281 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Abnormal circulating fatty-acid concentration, Urinary urgency, Urinary ret... |
ORPHA:139399 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis |
ORPHA:589821 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Botulism |
|
Urinary retention |
ORPHA:1267 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Charge Syndrome |
|
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney |
ORPHA:138 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Foodborne Botulism |
|
Urinary retention |
ORPHA:228371 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Urinary urgency |
OMIM:270550 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Decreased serum iron |
ORPHA:438213 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Perineural Cyst |
|
Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:65250 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
Machado-Joseph Disease |
|
Urinary bladder sphincter dysfunction |
OMIM:109150 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Parkinson Disease 1, Autosomal Dominant |
|
Urinary urgency |
OMIM:168601 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
8Q24.3 Microdeletion Syndrome |
|
Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral ... |
ORPHA:508488 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
OMIM:157800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis |
ORPHA:847 |
Pelizaeus-Merzbacher Disease |
|
Urinary urgency |
OMIM:312080 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia... |
ORPHA:2785 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
7Q11.23 Microduplication Syndrome |
|
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:96121 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary urgency, Urinary incontinence |
OMIM:146500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Wide penis, Vesicoureteral... |
ORPHA:3455 |
Spinocerebellar Ataxia 1 |
|
Urinary bladder sphincter dysfunction |
OMIM:164400 |
Tenorio Syndrome |
|
Enuresis |
OMIM:616260 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tubulointerstiti... |
ORPHA:358 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis |
OMIM:115150 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:309580 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
Friedreich Ataxia |
|
Urinary bladder sphincter dysfunction |
ORPHA:95 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co... |
OMIM:615287 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Dubowitz Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:235 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... |
ORPHA:79102 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Decreased pl... |
ORPHA:79408 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Nocturia |
OMIM:612953 |
Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... |
ORPHA:261537 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder |
ORPHA:411602 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux |
OMIM:150230 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... |
ORPHA:2152 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:280000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... |
ORPHA:261552 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... |
ORPHA:798 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
Superficial Siderosis |
|
Functional abnormality of the bladder |
ORPHA:247245 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Arachnoid Cyst |
|
Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:2356 |
Acute Transverse Myelitis |
|
Urinary retention, Urinary bladder sphincter dysfunction, Decreased circulating copper concentrat... |
ORPHA:139417 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension |
ORPHA:391487 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Isolated Posterior Meningocele |
|
Enuresis |
ORPHA:268810 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary urgency, Recurrent urinary tract infections, Urinary retention |
ORPHA:99027 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Nocturia |
ORPHA:254892 |
Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Urinary retention |
OMIM:600145 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Hydronephrosis |
OMIM:188400 |
Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Doors Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... |
ORPHA:79500 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Enuresis |
ORPHA:369950 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Hydronephrosis |
ORPHA:83617 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis |
OMIM:147920 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:180849 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Hypocalcemia |
OMIM:620330 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:236680 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Enuresis, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Charge Syndrome |
|
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis |
OMIM:214800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi... |
OMIM:243800 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Renal dysplasia |
ORPHA:480880 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis |
OMIM:304120 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Urinary urgency, Hypocalcemia, Hypomagnesemia, Micropenis, Pelvic kidney |
OMIM:619503 |
Viss Syndrome |
|
Hydronephrosis |
OMIM:619472 |
Alström Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Detrusor sphincter dyssynergia, Recurre... |
ORPHA:64 |