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Gene: Upk3a MGI:98914

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

uroplakin 3A

Synonyms:

Upk3, 1110017C07Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Upk3a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Upk3a (0 diseases)
Human diseases predicted to be associated with Upk3a (665 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Upk3a by phenotypic similarity.

Disease	Matching phenotypes	Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Upk3a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Upk3a.

No publications found that use IMPC mice or data for Upk3a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Upk3a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Upk3a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Upk3a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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