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Gene: Gen1 MGI:2443149

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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

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 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
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Vesicoureteral Reflux 8
Vesicoureteral reflux, Duplicated collecting system, Recurrent urinary tract infections OMIM:615963
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Deafness, Autosomal Dominant 23
Vesicoureteral reflux OMIM:605192
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Unilateral renal agenesis OMIM:601355
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... ORPHA:107
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil... ORPHA:2260
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence ORPHA:93928
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Recurrent urinary tract infections OMIM:244600
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Bresek Syndrome
Hypoplasia of the bladder, Hydrocephalus, Renal hypoplasia, Vesicoureteral reflux, Renal dysplasia ORPHA:85284
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:619217
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... ORPHA:93929
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
8Q12 Microduplication Syndrome
Vesicoureteral reflux ORPHA:228399
Even-Plus Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia OMIM:616854
Lumbar Syndrome
Hypospadias, Renal agenesis, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... ORPHA:83628
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... OMIM:216360
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Renal malrotation, Unilateral renal agenesis, Renal steatosis,... OMIM:113650
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Hogue-Janssen Syndrome 2
Hydrocephalus, Unilateral renal agenesis OMIM:616362
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Currarino Syndrome
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias ORPHA:1552
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Unilateral renal agenesis ORPHA:1064
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
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism OMIM:617660
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Hydrocephalus, Unilateral renal agenesis OMIM:619951
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Renal hypoplasia ORPHA:464288
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Spina bifida occulta, Hypospadias OMIM:617466
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Proximal tubulopathy, Unilateral renal agenesis, Hyperechogenic kidneys OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Oculoauriculovertebral Spectrum With Radial Defects
Vesicoureteral reflux, Distal urethral duplication, Renal hypoplasia/aplasia ORPHA:2549
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Renal agenesis, Unilateral renal agenesis OMIM:619227
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnorm... ORPHA:322
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Renal atrophy, Hypospadias OMIM:618659
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, M... OMIM:609029
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Hydrocephalus, Horseshoe kidney ORPHA:238769
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalus, Spinal dysraphism, Micropenis, Hyd... ORPHA:1926
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney OMIM:609053
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Nabais Sa-De Vries Syndrome, Type 1
Vesicoureteral reflux OMIM:618828
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... ORPHA:2438
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Umbilical hernia, Neurogenic bladder, Hydronephrosis OMIM:619218
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux ORPHA:3208
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaureter, Abnormal... ORPHA:2437
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Hydronephrosis OMIM:620141
Tatton-Brown-Rahman Syndrome
Vesicoureteral reflux, Umbilical hernia OMIM:615879
Emanuel Syndrome
Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis ORPHA:96170
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta, Hydronephrosis OMIM:618060
Familial Visceral Myopathy
Vesicoureteral reflux, Umbilical hernia, Hydroureter, Megacystis ORPHA:2604
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Recurrent urinary tract infections, Hypospadias, Horseshoe kidney OMIM:619103
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Aqueductal stenosis ORPHA:93260
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis OMIM:301056
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux OMIM:614261
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias ORPHA:494344
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux OMIM:613174
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux ORPHA:3078
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Ectopic kidney ORPHA:2578
Distal Deletion 10Q
Functional abnormality of the bladder, Spina bifida occulta, Horseshoe kidney, Enuresis, Vesicour... ORPHA:96148
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Spina bifida occulta, Vesicoureteral reflux, Crossed fuse... OMIM:300707
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney OMIM:602200
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:115470
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Tetrasomy 15Q26
Hydrocephalus, Hydronephrosis, Horseshoe kidney OMIM:614846
Trichorhinophalangeal Syndrome Type 2
Vesicoureteral reflux, Recurrent urinary tract infections ORPHA:502
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Kleefstra Syndrome Due To A Point Mutation
Vesicoureteral reflux, Umbilical hernia, Abnormality of the kidney ORPHA:261652
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... OMIM:614080
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... ORPHA:1834
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Umbilical hernia, Enlarged kidney, Unilateral renal agenesis OMIM:618188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Umbilical hernia, Spina bifida occulta, ... OMIM:235510
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux ORPHA:140952
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Horseshoe kidney OMIM:612562
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Vesicoureteral reflux OMIM:618797
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... ORPHA:887
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Pelvic kidney, Microphallus, Renal hypoplasia OMIM:603467
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Hydrocephalus, Stage 2... OMIM:620305
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux OMIM:120200
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Congenital posterior urethral valve, Vesicoureteral reflux, U... OMIM:300000
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn... OMIM:192350
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Renal insufficiency, Micropenis OMIM:617159
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Knobloch Syndrome
Vesicoureteral reflux, Occipital encephalocele, Hydrocephalus, Bifid ureter ORPHA:1571
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Hydronephrosis OMIM:220210
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydrocephalus, Hydronephrosis ORPHA:250989
Fanconi Anemia, Complementation Group L
Hydrocephalus, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis ORPHA:96147
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney OMIM:314390
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Unilateral renal agenesis OMIM:101800
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:618454
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Penoscrotal Transposition
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Enuresis, Hydronephrosis ORPHA:96121
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Vesicoureteral reflux OMIM:614749
Chromosome 10Q26 Deletion Syndrome
Vesicoureteral reflux, Micropenis OMIM:609625
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... OMIM:176450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Trisomy 17P
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi... ORPHA:261290
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Distal Triplication 15Q
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... ORPHA:314588
Acro-Renal-Ocular Syndrome
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... ORPHA:959
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Lobar holoprosencephaly, Microphallus, Abnormal renal col... ORPHA:468631
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Branchial anomaly, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Au-Kline Syndrome
Lipomyelomeningocele, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral refl... OMIM:616580
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Chops Syndrome
Vesicoureteral reflux, Horseshoe kidney OMIM:616368
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus, Ureteral triplication, Hydronephrosis OMIM:104350
Trisomy 1Q
Hydrocephalus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux OMIM:617394
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,... OMIM:129900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Hydrocephalus, Dilatation of the renal pelvis, Abnormalit... ORPHA:95699
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis OMIM:619194
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Unilateral renal agenesis ORPHA:457284
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Bohring-Opitz Syndrome
Vesicoureteral reflux OMIM:605039
Mesomelia-Synostoses Syndrome
Umbilical hernia, Hydronephrosis ORPHA:2496
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Neurodevelopmental Disorder With Spasticity And Poor Growth
Vesicoureteral reflux OMIM:618076
Poland Syndrome
Encephalocele, Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypopla... ORPHA:2911
Leopard Syndrome 1
Micropenis, Spina bifida occulta, Hypospadias, Unilateral renal agenesis OMIM:151100
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Schisis Association
Encephalocele, Renal agenesis, Anencephaly, Spina bifida ORPHA:63862
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida ORPHA:2839
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mye... OMIM:258040
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, Hydronephrosis ORPHA:3079
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Osteootohepatoenteric Syndrome
Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux OMIM:619377
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Spina bifida, Dilatation of the renal pelvis, Horseshoe ... OMIM:274000
Distal Duplication 17Q
Vesicoureteral reflux, Renal duplication ORPHA:3379
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux OMIM:615895
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Vesicoureteral reflux, Umbilical hernia, Hydronep... ORPHA:2745
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias ORPHA:139466
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Pelvic kidney, Hydronephrosis OMIM:613001
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
3C Syndrome
Hydrocephalus, Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Unilateral renal agenesis ORPHA:261337
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Unilateral renal agenesis OMIM:154400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Holoprosencephaly, Unilateral renal agenesis ORPHA:141099
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux OMIM:609460
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Monosomy 22Q13.3
Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recurrent pyelonephritis, Renal dysplasia ORPHA:48652
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Spina bifida, Hydrocephalus, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Spina bifida, Hydrocephalus, Fetal pyelectasis, ... ORPHA:363958
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Carpenter Syndrome 1
Umbilical hernia, Hydroureter, Spina bifida occulta, Hydronephrosis OMIM:201000
Meier-Gorlin Syndrome 7
Urethral stricture, Micropenis, Hypospadias, Vesicoureteral reflux OMIM:617063
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypoplasia,... ORPHA:508488
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Dilatation of the ren... ORPHA:268261
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Spina bifida, Horseshoe kidney, Multiple renal cysts, Hydro... ORPHA:99776
22Q11.2 Deletion Syndrome
Hypospadias, Spina bifida, Hydrocephalus, Meningocele, Renal hypoplasia, Occipital myelomeningoce... ORPHA:567
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis OMIM:611209
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Robinow Syndrome, Autosomal Dominant 3
Vesicoureteral reflux, Micropenis OMIM:616894
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Hydronephrosis ORPHA:90652
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Branchial anomaly, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Branchial anomaly, Hydronephrosis ORPHA:352665
15Q Overgrowth Syndrome
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Nephroblasto... ORPHA:314585
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Micropenis, Hypospadias ORPHA:163956
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Holoprosencephaly 3
Holoprosencephaly, Hydronephrosis OMIM:142945
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Vesicoureteral reflux, Duplicated collecting system, Micropenis, Bilateral fetal pyelectasis OMIM:300868
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large placenta, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul... ORPHA:116
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... ORPHA:268810
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Stromme Syndrome
Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Thakker-Donnai Syndrome
Communicating hydrocephalus, Hydronephrosis ORPHA:1780
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Hydrocephalus, Re... OMIM:107480
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Umbilical... ORPHA:2092
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Umbilical hernia, Micropenis, Hydronephrosis OMIM:301040
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Charge Syndrome
Aqueductal stenosis, Horseshoe kidney, Holoprosencephaly, Vesicoureteral reflux, Micropenis, Hydr... ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus... OMIM:615287
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Hydronephrosis, Large placenta ORPHA:254528
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
17Q24.2 Microdeletion Syndrome
Vesicoureteral reflux ORPHA:529962
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Hypotonia, Ataxia, And Delayed Development Syndrome
Vesicoureteral reflux, Micropenis OMIM:617330
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
Williams-Beuren Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho... OMIM:194050
Trisomy 18
Abnormality of the upper urinary tract, Spina bifida, Anencephaly, Holoprosencephaly, Hydronephrosis ORPHA:3380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Vesicoureteral reflux, Hypospadias, Horseshoe kidney ORPHA:444077
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Umbilical hernia, Renal dysplasia OMIM:188400
Williams Syndrome
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... ORPHA:904
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micropenis, Abnormal renal morphology, Hydronephrosis ORPHA:1655
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Hydronephrosis OMIM:260660
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... ORPHA:353281
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Spina bifida occulta, Occipital meningocel... OMIM:267750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Holoprosencepha... ORPHA:672
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... ORPHA:857
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Renal dysplasia ORPHA:1335
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Umbilical h... OMIM:308205
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis OMIM:300968
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Hydronephrosis, Abnormality of the kidney ORPHA:847
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Raine Syndrome
Hydrocephalus, Hydroureter, Hydronephrosis OMIM:259775
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Renal agenesis, Hypospadias OMIM:313850
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Neurocardiofaciodigital Syndrome
Vesicoureteral reflux OMIM:619869
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Hydronephrosis OMIM:115150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... ORPHA:93111
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney ORPHA:500150
Cardiospondylocarpofacial Syndrome
Vesicoureteral reflux, Horseshoe kidney OMIM:157800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... ORPHA:280633
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis OMIM:619503
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Cardiofaciocutaneous Syndrome
Hydrocephalus, Hydronephrosis ORPHA:1340
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
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
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Spina bifida occulta, Ureteral obstruction ORPHA:1826
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta, Hypospadias, Hydronephrosis ORPHA:235
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Trisomy 8P
Hydrocephalus, Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
3Mc Syndrome 1
Spina bifida occulta, Hydronephrosis OMIM:257920
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Hydrocephalus, Wide penis, Vesicoureteral reflux... ORPHA:3455
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis ORPHA:438213
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Cutis Laxa, Autosomal Recessive, Type Ic
Umbilical hernia, Hydronephrosis, Multiple bladder diverticula OMIM:613177
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis ORPHA:900
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Umbilical hernia, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hydrocepha... OMIM:164210
Apert Syndrome
Hydrocephalus, Hydronephrosis OMIM:101200
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Vesicoureteral reflux, Micropenis, Hypospadias, Renal hypoplasia OMIM:309580
Schinzel-Giedion Syndrome
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Neural tube ... ORPHA:798
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Tarp Syndrome
Hydronephrosis, Horseshoe kidney ORPHA:2886
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis OMIM:269150
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
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... ORPHA:2785
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula OMIM:612541
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Spina bifida ORPHA:2308
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Umbilical hernia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:280000
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Autosomal Recessive Robinow Syndrome
Umbilical hernia, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Mesomelia-Synostoses Syndrome
Short umbilical cord, Hydronephrosis OMIM:600383
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis OMIM:114290
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Robinow Syndrome
Multicystic kidney dysplasia, Umbilical hernia, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... ORPHA:261552
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux OMIM:150230
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydroc... ORPHA:709
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Hydrocephalus, Horseshoe kidney, Multiple re... ORPHA:3310
Focal Dermal Hypoplasia
Ureteral duplication, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Horseshoe kidney, Um... OMIM:305600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Umbili... OMIM:136140
Hydrolethalus Syndrome 1
Anencephaly, Hypospadias, Hydronephrosis, Severe hydrocephalus OMIM:236680
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Umbilical hernia, Spina bifida occult... OMIM:135900
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Umbilical hernia, Hydronephrosis OMIM:601776
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Kabuki Syndrome 1
Crossed fused renal ectopia, Hydrocephalus, Micropenis, Ureteropelvic junction obstruction, Hydro... OMIM:147920
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Hypospadias, Hydronephrosis, Spina bifida OMIM:180849
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Sirenomelia, Nephrocalcinosis, Abnormality of ... ORPHA:79500
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Robinow Syndrome, Autosomal Dominant 1
Umbilical hernia, Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney ORPHA:2273
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Hydrocephalus, Umbilical hernia, Hydronephrosis OMIM:304120
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Holoprosencephaly, Umbilical hernia, Micropen... OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hydrocephalus, Renal cyst, Duplication of renal pelvis, Umbilical hernia, Nephroblas... OMIM:312870
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Hydrocephalus, Renal hypoplasia, Umbilical hernia, Hydronephrosis OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Aqueductal stenosis, Hydrocephalus, Dilatation of the renal pelv... OMIM:619534
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Umbi... OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Hydronephrosis OMIM:620330
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Hydronephrosis ORPHA:480880
Viss Syndrome
Umbilical hernia, Hydronephrosis OMIM:619472
Johanson-Blizzard Syndrome
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula OMIM:243800

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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gen1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gen1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gen1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gen1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gen1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gen1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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