Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GEN1, Holliday junction 5' flap endonuclease
Synonyms:
5830483C08Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Gen1 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.

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

The table below shows human diseases predicted to be associated to Gen1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Vesicoureteral Reflux 8
Vesicoureteral reflux, Recurrent urinary tract infections, Duplicated collecting system OMIM:615963
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Deafness, Autosomal Dominant 23
Vesicoureteral reflux OMIM:605192
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Unilateral renal agenesis OMIM:601355
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Lower Urinary Tract Obstruction, Congenital
Pollakisuria, Urinary incontinence, Urethral stenosis, Vesicoureteral reflux, Congenital posterio... OMIM:618612
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Bor Syndrome
Renal insufficiency, Branchial cyst, Multicystic kidney dysplasia, Ureteropelvic junction obstruc... ORPHA:107
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Isolated Epispadias
Urinary incontinence, Epispadias, Vesicoureteral reflux, Anteriorly displaced urethral meatus ORPHA:93928
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Branchial cyst, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Recurrent urinary tract infections OMIM:244600
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Protein... ORPHA:261222
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral reflux, Hydrocephalus ORPHA:85284
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis, Umbilical hernia OMIM:619217
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Prune Belly Syndrome
Urogenital sinus anomaly, Hydroureter, Recurrent urinary tract infections, Abnormality of the ure... ORPHA:2970
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Vesicoureteral r... ORPHA:93929
Caudal Regression Sequence
Renal agenesis, Arrhinencephaly, Abnormality of the ureter, Vesicoureteral reflux, Ectopic kidney... ORPHA:3027
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
8Q12 Microduplication Syndrome
Vesicoureteral reflux ORPHA:228399
Lumbar Syndrome
Spina bifida, Vesicoureteral reflux, Bladder exstrophy, Hypospadias, Renal agenesis, Myelomeningo... ORPHA:83628
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... ORPHA:93930
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis OMIM:618142
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Hydronephrosis OMIM:609757
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Currarino Syndrome
Hypospadias, Vesicoureteral reflux, Hypoplasia of penis ORPHA:1552
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Vesicoureteral reflux OMIM:601450
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Communicating hydrocephalus ORPHA:1064
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Isolated Optic Nerve Hypoplasia/Aplasia
Vesicoureteral reflux ORPHA:137902
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux, Spinal dysraphism OMIM:617660
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Branchial cyst, Renal steatosis, ... OMIM:113650
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux ORPHA:464288
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Unilateral renal agenesis, Hydrocephalus, Hyperechogenic kidneys OMIM:614576
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Bladder duplication, Penile hypospadias, Rectourethral fist... ORPHA:237
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Webb-Dattani Syndrome
Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Spina bifida occulta OMIM:619227
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis, Hypospadias, Mic... ORPHA:363444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis, Hydrocephalus OMIM:615287
Exstrophy-Epispadias Complex
Bladder duplication, Spina bifida, Horseshoe kidney, Hydrocephalus, Renal hypoplasia, Penoscrotal... ORPHA:322
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Matthew-Wood Syndrome
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney ORPHA:2470
Oculoauriculovertebral Spectrum With Radial Defects
Renal hypoplasia/aplasia, Vesicoureteral reflux, Distal urethral duplication ORPHA:2549
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Horseshoe kidney, Hydrocephalus ORPHA:238769
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Abnormal renal morphology, Vesicoureteral reflux, Horseshoe kidney OMIM:609053
Diabetic Embryopathy
Spinal dysraphism, Hydronephrosis, Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hy... ORPHA:1926
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hypospadias, Vesicoureteral reflux, Renal atrophy OMIM:618659
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Ureteral ... OMIM:612726
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Emanuel Syndrome
Renal hypoplasia, Micropenis, Hydrocephalus, Unilateral renal agenesis ORPHA:96170
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Umbilical hernia, Multicystic kidney dysplasia OMIM:308205
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Hydrocephalus, Enlarged kidney OMIM:314390
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Umbilical hernia, Hydronephrosis OMIM:619218
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux OMIM:614261
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Mental Retardation, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Nabais Sa-De Vries Syndrome, Type 1
Vesicoureteral reflux OMIM:618828
Familial Visceral Myopathy
Vesicoureteral reflux, Megacystis, Umbilical hernia, Hydroureter ORPHA:2604
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Vesicoureteral reflux, Spina bifida occulta, Pelvic kidney OMIM:300707
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis OMIM:618419
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Hydronephrosis OMIM:618494
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Unilateral renal agenesis, Pelvic kidney OMIM:156810
Chops Syndrome
Vesicoureteral reflux, Horseshoe kidney OMIM:616368
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis ORPHA:3305
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Vesicouretera... OMIM:607323
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Developmental Delay With Or Without Dysmorphic Facies And Autism
Microphallus, Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Renal cyst, Hydronephrosis OMIM:618454
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Cardiospondylocarpofacial Syndrome
Vesicoureteral reflux, Horseshoe kidney OMIM:157800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Hypospadias, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:619103
Pfeiffer Syndrome Type 3
Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Aqueductal stenosis ORPHA:93260
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Ectopic kidney, Unilateral renal agenesis OMIM:616541
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ab... ORPHA:2438
Hand-Foot-Genital Syndrome
Renal insufficiency, Pyelonephritis, Chordee, Ureteropelvic junction obstruction, Vesicoureteral ... OMIM:140000
Distal Monosomy 10Q
Horseshoe kidney, Acute kidney injury, Enuresis, Functional abnormality of the bladder, Vesicoure... ORPHA:96148
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Micropenis OMIM:301056
Koolen-De Vries Syndrome
Vesicoureteral reflux, Hydronephrosis, Hypospadias, Ureteral duplication, Renal duplication ORPHA:96169
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux ORPHA:3078
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux ORPHA:3208
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydrocephalus OMIM:602200
Trichorhinophalangeal Syndrome Type 2
Vesicoureteral reflux, Recurrent urinary tract infections ORPHA:502
Visceral Myopathy 1
Vesicoureteral reflux, Megacystis, Urinary retention, Hydronephrosis OMIM:155310
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Vesicoureteral reflux ORPHA:494344
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Spina bifida occulta OMIM:618060
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Hy... ORPHA:1834
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux OMIM:120200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Umbilical hernia, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis, Spina ... OMIM:235510
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:391641
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Kleefstra Syndrome Due To A Point Mutation
Vesicoureteral reflux, Abnormality of the kidney, Umbilical hernia ORPHA:261652
Kleefstra Syndrome
Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Renal insufficiency, Micropenis, ... ORPHA:261494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Bladder trabeculation, Ureteral hypoplasia, Renal dysplasia, Vesicoureteral reflux, Hydronephrosi... OMIM:614080
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Vesicoureteral reflux, Micropenis OMIM:617159
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Vesicoureteral reflux OMIM:600123
Baller-Gerold Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal localization of kidney, Abnormality of the ureter ORPHA:1225
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Vesicoureteral reflux OMIM:618797
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Vesicoureteral reflux, Microphallus, Pelvic kidney OMIM:603467
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Hypospadias OMIM:611209
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Enuresis, Hydronephrosis, Hypospadias, Hydrocephalus ORPHA:96121
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hydrocephalus OMIM:101800
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Horseshoe kidney OMIM:612562
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Hemifacial Microsomia
Branchial anomaly, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureter... OMIM:164210
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Hydrocephalus OMIM:220210
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Hydronephrosis, Urethral stricture, Apl... ORPHA:79403
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Chromosome 10Q26 Deletion Syndrome
Vesicoureteral reflux, Micropenis OMIM:609625
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
15q26 overgrowth syndrome
Horseshoe kidney, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis, Polycystic ... DECIPHER:81
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Horseshoe kidney, Renal agenesis, Vesicoureteral reflux, Ectopic kidney, Renal insufficiency ORPHA:140952
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Urinary retention, ... ORPHA:90324
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Umbilical hernia, Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter OMIM:222300
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2059
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
Hyperphosphatasia With Mental Retardation Syndrome 2
Vesicoureteral reflux OMIM:614749
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Vesicoureteral reflux, Hypoplasia of penis ORPHA:96147
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Abnormal renal collecting system morphology, Unilateral renal agenesis, Lobar holop... ORPHA:468631
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Holoprosencephaly, Unilateral renal agenesis, Ureteropelvic junction obstructio... OMIM:270400
Vacterl/Vater Association
Renal agenesis, Anencephaly, Multicystic kidney dysplasia, Abnormality of the urethra, Ectopic ki... ORPHA:887
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Megacystis, Hydroureter, Duplicated collecting system, Bladder diverticulum, Urethral stenosis, R... OMIM:604292
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Vater/Vacterl Association
Spina bifida, Renal agenesis, Ureteropelvic junction obstruction, Renal dysplasia, Vesicoureteral... OMIM:192350
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... ORPHA:2842
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Trisomy 13
Displacement of the urethral meatus, Multiple renal cysts, Hydronephrosis, Abnormality of the ureter ORPHA:3378
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis, Spina bifida occulta OMIM:151100
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Hydrocephalus, Aqueductal stenosis OMIM:154400
Meier-Gorlin Syndrome 7
Hypospadias, Vesicoureteral reflux, Micropenis, Urethral stricture OMIM:617063
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Knobloch Syndrome
Vesicoureteral reflux, Hydrocephalus, Bifid ureter ORPHA:1571
Acro-Renal-Ocular Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Bladder diverticulum, Vesicoure... ORPHA:959
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hydrocephalus ORPHA:457284
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Hydrocephalus, Umbilical hernia OMIM:104350
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Hydrocephalus, Multicystic kidney dysplasia ORPHA:261344
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Hydronephrosis, Branchial anomaly, Abnormality of bladder morphology ORPHA:453499
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis, Hydrocephalus ORPHA:250989
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the urinary system, Unilateral renal agenesis, Vesicoureteral reflux, Hypospadias,... ORPHA:95699
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Mesomelia-Synostoses Syndrome
Hydronephrosis, Umbilical hernia ORPHA:2496
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Currarino Syndrome
Neurogenic bladder, Horseshoe kidney, Recurrent urinary tract infections, Urinary incontinence, V... OMIM:176450
Distal Tetrasomy 15Q
Horseshoe kidney, Hydrocephalus, Nephroblastoma, Polycystic kidney dysplasia, Hydronephrosis, Abn... ORPHA:314588
Bohring-Opitz Syndrome
Vesicoureteral reflux OMIM:605039
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Cornelia De Lange Syndrome 1
Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux, Renal cyst, Ectopic kidney, R... OMIM:122470
22Q11.2 Duplication Syndrome
Urethral stenosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
Eec Syndrome
Urethral atresia, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1896
Trisomy 17P
Urethral valve, Urethral stenosis, Hydronephrosis, Polycystic kidney dysplasia, Hypoplasia of pen... ORPHA:261290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Ureteral duplication, Vesicoureteral reflux, Bifid ureter OMIM:601347
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Hydroureter, Duplicated collecting system, Bladder diverticulum, Ren... OMIM:129900
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Vesicoureteral reflux, Micropenis, Pelvic kidney OMIM:618653
Trisomy 20P
Spina bifida, Multiple renal cysts, Umbilical hernia, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Duplicated collecting system, Renal tubular... OMIM:118450
Penile Agenesis
Unilateral renal hypoplasia, Hydroureter, Bilateral renal agenesis, Cystic renal dysplasia, Ureth... ORPHA:49
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Brain-Lung-Thyroid Syndrome
Hypospadias, Vesicoureteral reflux, Megacystis ORPHA:209905
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Umbilical hernia ORPHA:3079
Marden-Walker Syndrome
Renal agenesis, Hydrocephalus, Hydroureter, Abnormal penis morphology, Abnormality of the urinary... ORPHA:2461
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Unilateral renal agenesis, Hydrocephalus ORPHA:261337
Oeis Complex
Renal agenesis, Hydroureter, Duplicated collecting system, Hydronephrosis, Vesicovaginal fistula,... OMIM:258040
Poland Syndrome
Renal hypoplasia, Duplicated collecting system, Vesicoureteral reflux, Spina bifida occulta, Hypo... ORPHA:2911
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Multiple bladder diverticula, Vesicoureteral ... ORPHA:90349
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Vesicoureteral reflux, Nephroblastoma, Nephrocalcinosis, N... OMIM:130650
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydronephrosis, Hydrocephalus ORPHA:2839
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, R... OMIM:608836
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:487796
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Serkal Syndrome
Abnormal penis morphology, Renal agenesis, Hypoplasia of the bladder, Hypospadias ORPHA:139466
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hydrocephalus, Pelvic kidney OMIM:613001
Distal Monosomy 12Q
Vesicoureteral reflux, Ectopic kidney, Polycystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:96149
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Micropenis, Hydronephrosis OMIM:616897
3C Syndrome
Hypospadias, Hydronephrosis, Hydrocephalus, Hypoplasia of penis ORPHA:7
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Unilateral renal agenesis, Recurrent urinary tract infections, Hypospadias, Micropenis, ... ORPHA:268261
Distal Trisomy 17Q
Vesicoureteral reflux, Renal duplication ORPHA:3379
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydronephrosis, Ur... ORPHA:2473
Mosaic Trisomy 9
Spina bifida, Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Hydronephrosis, Hypoplasia... ORPHA:99776
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral reflux, Fetal pye... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral reflux, Fetal pye... ORPHA:363958
Digeorge Syndrome
Renal dysplasia, Unilateral renal agenesis, Umbilical hernia, Hydronephrosis OMIM:188400
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Zellweger Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia ORPHA:912
22Q11.2 Deletion Syndrome
Spina bifida, Multiple renal cysts, Renal hypoplasia, Arrhinencephaly, Umbilical hernia, Meningoc... ORPHA:567
Townes-Brocks Syndrome 1
Renal hypoplasia, Urethral valve, Umbilical hernia, Multicystic kidney dysplasia, Renal dysplasia... OMIM:107480
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Renal agenesis, Recurrent urinary tract infections OMIM:613680
Schisis Association
Renal agenesis, Spina bifida, Anencephaly ORPHA:63862
Opitz Gbbb Syndrome
Abnormality of the urinary system, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Hypos... ORPHA:2745
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Monosomy 22Q13.3
Recurrent pyelonephritis, Umbilical hernia, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:48652
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Robinow Syndrome, Autosomal Dominant 3
Vesicoureteral reflux, Micropenis OMIM:616894
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Umbilical hernia, Hydronephrosis, Hypospadias, Micropenis OMIM:301040
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Large placenta, Nephropathy, Umbili... ORPHA:116
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis, Branchial anomaly ORPHA:352665
Carpenter Syndrome 1
Umbilical hernia, Hydronephrosis, Spina bifida occulta, Hydroureter OMIM:201000
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Holoprosencephaly, Renal dysplasia, Renal cyst, Ectopic kidney, Hy... OMIM:146510
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micropenis, Vesicoureteral reflux, Duplicated collecting system OMIM:300868
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal hypoplasia/aplasia, Renal agenesis, Hydronephrosis, Umbilical hernia OMIM:308050
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux OMIM:150230
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hydronephrosis, Pelvic kidney OMIM:601186
Micro Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormal localization of kidney ORPHA:2510
Thakker-Donnai Syndrome
Hydronephrosis, Communicating hydrocephalus ORPHA:1780
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Hypospadias, Myelomeningocele, Hydrocephalus ORPHA:90652
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Vesicoureteral reflux, Micropenis ORPHA:163956
15Q Overgrowth Syndrome
Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephro... ORPHA:314585
Cousin Syndrome
Hydranencephaly, Hydronephrosis, Hydrocephalus OMIM:260660
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis ORPHA:2315
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Aplasia/Hypoplasia of the bladder, Hydroureter, Renal tubular epit... ORPHA:79404
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Holoprosencephaly 3
Holoprosencephaly, Hydronephrosis OMIM:142945
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Hydroureter OMIM:236700
Mesomelia-Synostoses Syndrome
Short umbilical cord, Hydronephrosis OMIM:600383
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Umbilical hernia, Bladder diverticulum OMIM:613177
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Kabuki Syndrome
Crossed fused renal ectopia, Duplicated collecting system, Abnormal localization of kidney, Urete... ORPHA:2322
17Q24.2 Microdeletion Syndrome
Vesicoureteral reflux ORPHA:529962
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Charge Syndrome
Horseshoe kidney, Holoprosencephaly, Aqueductal stenosis, Vesicoureteral reflux, Hydronephrosis, ... ORPHA:138
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Hydrocephalus OMIM:243605
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
Split Cord Malformation
Neurogenic bladder, Horseshoe kidney, Cervical spina bifida, Hydrocephalus, Urinary incontinence,... ORPHA:573278
Campomelic Dysplasia
Hydronephrosis, Hydrocephalus OMIM:114290
Focal Dermal Hypoplasia
Spina bifida, Horseshoe kidney, Umbilical hernia, Multicystic kidney dysplasia, Hydronephrosis, R... ORPHA:2092
Microphthalmia, Lenz Type
Hypospadias, Renal hypoplasia/aplasia, Hydronephrosis, Hydroureter ORPHA:568
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Hydronephrosis, Umbilical hernia ORPHA:254528
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Functional abnormality of the bladder, Hydronephrosis, Nephrolithiasis ORPHA:2953
Posterior Meningocele
Enuresis, Occipital meningocele, Meningocele, Neural tube defect, Lipomyelomeningocele, Hydroceph... ORPHA:268810
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Micropenis OMIM:218649
Townes-Brocks Syndrome
Multiple renal cysts, Renal hypoplasia, Urethral valve, Vesicoureteral reflux, Ectopic kidney, Hy... ORPHA:857
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Hydronephrosis, Hypospadias, Renal cortical microcysts OMIM:214100
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
Raine Syndrome
Hydronephrosis, Hydrocephalus, Hydroureter OMIM:259775
Teebi-Shaltout Syndrome
Horseshoe kidney, Ureteral stenosis, Hydronephrosis OMIM:272950
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Micropenis, Hydronephrosis ORPHA:96092
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Williams-Beuren Syndrome
Abnormal renal morphology, Renal hypoplasia, Recurrent urinary tract infections, Enuresis, Umbili... OMIM:194050
Trisomy 18
Spina bifida, Holoprosencephaly, Anencephaly, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria OMIM:191830
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Pallister-Hall Syndrome
Bilateral renal agenesis, Holoprosencephaly, Arrhinencephaly, Unilateral renal agenesis, Umbilica... ORPHA:672
Hypotonia, Ataxia, And Delayed Development Syndrome
Vesicoureteral reflux, Micropenis OMIM:617330
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Abnormality of the urinary system, Hydronephrosis, Persistent cloaca ORPHA:94095
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Micropenis, Hydronephrosis ORPHA:1655
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis OMIM:612541
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Hypoplasia of penis, Hydronephrosis ORPHA:847
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Vesicoureteral reflux, Horseshoe kidney ORPHA:444077
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis OMIM:300968
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Hyd... ORPHA:353281
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hydronephrosis OMIM:280000
8Q24.3 Microdeletion Syndrome
Branchial cyst, Unilateral renal agenesis, Bilateral renal hypoplasia, Vesicoureteral reflux, Spi... ORPHA:508488
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Bilateral renal dysplasia, Unilateral renal agenesis ORPHA:500150
Sotos Syndrome
Renal agenesis, Umbilical hernia, Hypospadias, Ureteropelvic junction obstruction, Vesicoureteral... ORPHA:821
Apert Syndrome
Hydronephrosis, Hydrocephalus OMIM:101200
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis, Hydrocephalus OMIM:304120
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Umbilical hernia, Nephrotic syndrome OMIM:601776
3Mc Syndrome 1
Hydronephrosis, Spina bifida occulta OMIM:257920
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Male urethral meatus stenosis ORPHA:464738
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Hydrocephalus OMIM:115150
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Hydronephrosis ORPHA:35687
Trisomy 8P
Fetal pyelectasis, Hydronephrosis, Nephrocalcinosis, Micropenis, Hydrocephalus ORPHA:264450
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis OMIM:192050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Micropenis, Hydrocephalus, Hydronephrosis ORPHA:163979
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Floating-Harbor Syndrome
Umbilical hernia, Hydronephrosis, Congenital posterior urethral valve, Hypospadias, Nephrocalcinosis OMIM:136140
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Renal hypoplasia, Hypospadias, Vesicoureteral reflux, Micropenis OMIM:309580
Cardiofaciocutaneous Syndrome
Hydronephrosis, Hydrocephalus ORPHA:1340
Dubowitz Syndrome
Hypospadias, Hydronephrosis, Hydrocephalus, Spina bifida occulta ORPHA:235
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Abnormality of the urinary system, Recurrent urinary tract infections,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Abnormality of the urinary system, Recurrent urinary tract infections,... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Hydronephrosis, Nephrolithiasis ORPHA:438213
Thoracoabdominal Syndrome
Renal agenesis, Hydrocephalus, Anencephaly, Hypospadias OMIM:313850
Frontometaphyseal Dysplasia
Urethral stenosis, Ureteral obstruction, Hydronephrosis, Spina bifida occulta ORPHA:1826
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Wiedemann-Rautenstrauch Syndrome
Dilatation of renal calices, Recurrent urinary tract infections, Vesicoureteral reflux, Hydroneph... ORPHA:3455
Fryns Syndrome
Renal agenesis, Arrhinencephaly, Renal cyst, Hydronephrosis, Hypospadias, Ureteral duplication OMIM:229850
Granulomatosis With Polyangiitis
Hematuria, Glomerulopathy, Hydronephrosis, Ureteral stenosis, Renal insufficiency, Proteinuria ORPHA:900
Schinzel-Giedion Syndrome
Umbilical hernia, Abnormality of the ureter, Neural tube defect, Renal cyst, Hydronephrosis, Neph... ORPHA:798
Pentalogy Of Cantrell
Renal agenesis, Anencephaly, Renal dysplasia, Hypospadias, Hydrocephalus ORPHA:1335
Robinow Syndrome, Autosomal Recessive 1
Micropenis, Renal duplication, Umbilical hernia, Hydronephrosis OMIM:268310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Hypertrophy of the urinary bladder, Con... ORPHA:280633
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hydronephrosis, Ureteral stenosis, Hypospadias, Micropenis OMIM:269150
Simpson-Golabi-Behmel Syndrome
Hydroureter, Umbilical hernia, Multicystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Hypo... ORPHA:373
Facial Dysmorphism With Multiple Malformations
Hydronephrosis, Hydrocephalus OMIM:227255
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Renal agenesis, Multicystic kidney dysplasia ORPHA:3015
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Jacobsen Syndrome
Spina bifida, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Cornelia De Lange Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypoplasia of penis, Hy... ORPHA:199
Tarp Syndrome
Horseshoe kidney, Hydronephrosis ORPHA:2886
Smith-Lemli-Opitz Syndrome
Holoprosencephaly, Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic j... ORPHA:818
Baraitser-Winter Cerebrofrontofacial Syndrome
Abnormality of the upper urinary tract, Hydronephrosis, Hydroureter ORPHA:2995
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Hydronephrosis ORPHA:100077
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Robinow Syndrome
Webbed penis, Umbilical hernia, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, H... ORPHA:261537
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Hypoplasia of the bladder, Hypospadias OMIM:611812
Mowat-Wilson Syndrome
Chordee, Micropenis, Renal duplication, Multicystic kidney dysplasia, Urinary incontinence, Vesic... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, D... ORPHA:261552
Focal Dermal Hypoplasia
Horseshoe kidney, Bifid ureter, Umbilical hernia, Hydronephrosis, Spina bifida occulta, Ureteral ... OMIM:305600
Hydrolethalus Syndrome 1
Arrhinencephaly, Anencephaly, Hydronephrosis, Hypospadias, Severe hydrocephalus OMIM:236680
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Unilateral renal hypopl... ORPHA:2729
Duodenal Neuroendocrine Tumor
Hydronephrosis ORPHA:100076
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Umbilical hernia, Hypoplasia of penis ORPHA:1507
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Renal agenesis, Myelomeningocele... ORPHA:63259
Scalp-Ear-Nipple Syndrome
Pyelonephritis, Recurrent urinary tract infections, Duplication of renal pelvis, Ureteral duplica... ORPHA:2036
Coffin-Siris Syndrome 1
Hydroureter, Renal hypoplasia, Umbilical hernia, Hydronephrosis, Ectopic kidney, Spina bifida occ... OMIM:135900
Peters Plus Syndrome
Hydrocephalus, Umbilical hernia, Multicystic kidney dysplasia, Hydronephrosis, Spina bifida occul... ORPHA:709
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Recurrent urinary tract infections, Umbilical hernia, Ren... ORPHA:3310
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Charge Syndrome
Horseshoe kidney, Renal hypoplasia, Arrhinencephaly, Holoprosencephaly, Umbilical hernia, Hydrone... OMIM:214800
Doors Syndrome
Arrhinencephaly, Sirenomelia, Abnormality of the urinary system, Hydronephrosis, Increased urine ... ORPHA:79500
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Renal duplication, Umbilical hernia, Hydronephrosis OMIM:180700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormal renal morphology, Hydronephrosis, Hydrocephalus ORPHA:363700
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
1P36 Deletion Syndrome
Renal cyst, Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormality of the kidney ORPHA:1606
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis, Hypoplasia of penis ORPHA:93271
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis ORPHA:83617
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:606170
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the upper urinary tract, Hydronephrosis, Abnormality of the kidney, Hydroureter ORPHA:2273
Peters-Plus Syndrome
Renal hypoplasia, Umbilical hernia, Hydronephrosis, Hypospadias, Ureteral duplication, Hydrocephalus OMIM:261540
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hydronephrosis, Dilatation of the bladder, Hypospadias, Dilatation of the renal pelvis OMIM:265380
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Hydronephrosis ORPHA:480880
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Hypospadias, Micropenis, Hydronephrosis OMIM:243800
Alobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93925
Lobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93924
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:93926
Semilobar Holoprosencephaly
Hydrocephalus, Neural tube defect ORPHA:220386

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 Gen1

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 Gen1.

No publications found that use IMPC mice or data for Gen1.

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MGI Allele Allele Type Produced
Gen1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gen1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gen1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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