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Gene: Sestd1 MGI:1916262

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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:
SEC14 and spectrin domains 1
Synonyms:
1500031J16Rik

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 Sestd1 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 Sestd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage... OMIM:613390
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... ORPHA:83628
Schisis Association
Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate... ORPHA:63862
Sirenomelia
Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Abnormality of th... ORPHA:3169
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Ectopic anus, Spina bifida, Cleft palate ORPHA:2476
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... ORPHA:93929
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate ORPHA:945
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid uvula ORPHA:2669
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Macdermot-Winter Syndrome
Death in infancy, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral agenesis, Cong... ORPHA:2437
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia ORPHA:195
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia ORPHA:63260
Oeis Complex
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... OMIM:258040
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R... ORPHA:2973
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dysphagia OMIM:207950
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Spin... ORPHA:1926
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoeso... ORPHA:1834
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Cleft palate ORPHA:957
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... ORPHA:873
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Neonatal death, E... OMIM:314390
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
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon OMIM:619362
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia, Hy... ORPHA:2839
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Cleft... ORPHA:99776
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Iniencephaly
Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... ORPHA:63259
Vacterl With Hydrocephalus
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esophageal atresia, ... ORPHA:3412
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Trisomy 20P
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... ORPHA:261318
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, High palate, Dysphagia, Hydronephrosis OMIM:618578
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... ORPHA:2241
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Clef... ORPHA:1393
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Amish Lethal Microcephaly
Death in infancy, Organic aciduria, Cleft soft palate, Spina bifida ORPHA:99742
Anophthalmia Plus Syndrome
Spina bifida, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... OMIM:100100
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi... OMIM:154230
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... ORPHA:991
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate ORPHA:894
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, High palate, Hydronephrosis ORPHA:85285
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala... OMIM:115470
Johanson-Blizzard Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, An... ORPHA:2315
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Tethered cord, Hypospadias, Renal agenesis, Spina bifid... OMIM:192350
Trisomy 18
Spina bifida, Abnormality of the upper urinary tract, Esophageal atresia, Cryptorchidism, Anencep... ORPHA:3380
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydrocephalus, Cleft palate, Hydronephrosis, Anal atresia OMIM:220210
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Tethered cord, Hydronephrosis OMIM:620141
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis OMIM:619431
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... ORPHA:107
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Hydroureter, Hydronephrosis OMIM:618240
3C Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, ... ORPHA:7
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Anorectal... ORPHA:49
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydrocephalus, Cleft palate, Congeni... ORPHA:261344
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... ORPHA:1908
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, High palate, Hydronephrosis OMIM:609757
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal hypoplasia, Cleft palate, A... OMIM:618494
Fanconi Anemia
High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvul... ORPHA:84
Phakomatosis Pigmentokeratotica
Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r... ORPHA:2874
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral r... OMIM:617660
Tetrasomy 15Q26
Hydrocephalus, Horseshoe kidney, Syringomyelia, High palate, Hydronephrosis OMIM:614846
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pe... ORPHA:314588
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... OMIM:236700
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, De... OMIM:600145
Jacobsen Syndrome
Death in infancy, Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Pyloric ste... ORPHA:2308
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida ORPHA:1120
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Stillbirth, Anal atresia OMIM:276950
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias, Anal atresia OMIM:312190
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Syringomyelia, Hydronep... ORPHA:531151
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptor... ORPHA:2059
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Gastroeso... ORPHA:2092
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Precocious puberty, Cr... OMIM:146510
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Cleft palate, Hematuria, Neph... OMIM:161200
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Hydrocephalus, Bilateral renal hypoplasia, Cleft palate,... OMIM:243605
Split Cord Malformation
Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner... ORPHA:573278
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Trisomy 17P
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Cleft palate, Macroglossia... ORPHA:261290
Duane-Radial Ray Syndrome
Renal malrotation, Anal stenosis, Aganglionic megacolon, Renal agenesis, Renal hypoplasia, Horses... OMIM:607323
Pfeiffer Syndrome Type 3
Intestinal malrotation, Aqueductal stenosis, Cleft palate, Horseshoe kidney, High palate, Vesicou... ORPHA:93260
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis OMIM:619217
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, High palate, Micropenis, Hydronephrosis OMIM:619185
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Cry... ORPHA:912
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Renal cyst OMIM:603194
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ureteral duplication, Renal malrotation, Spina bifida, Dilatation of the renal ... OMIM:274000
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Umbilical hernia OMIM:613776
Trisomy 13
High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft palate, Multiple renal cyst... ORPHA:3378
Limb Body Wall Complex
Encephalocele, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormality of... ORPHA:847
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal duplication, Urinary bladder inflammation, Congenital pyloric atresia, ... ORPHA:79403
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Umbilical hernia, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre... ORPHA:391641
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horseshoe kidney, Protein-losing ... OMIM:235510
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Hydronephrosis, Cleft palate OMIM:602418
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tracheoesophageal fistula, Rectovaginal fistula, Hydronephrosis, Ana... ORPHA:1780
Neu-Laxova Syndrome
External genital hypoplasia, Spina bifida, Submucous cleft hard palate, Cleft palate, Hypogonadis... ORPHA:2671
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... ORPHA:95706
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Neu-Laxova Syndrome 2
Spina bifida, High palate, Cleft palate OMIM:616038
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Spina bifida, Hypospa... ORPHA:567
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Tetraploidy
Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia ORPHA:3305
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Tethered cord, Renal hypoplasia, Spinal dysraphism OMIM:612918
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... OMIM:614080
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Umbilical hernia, Hydronephrosis ORPHA:2496
Carpenter Syndrome 1
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, High palate, Umbili... OMIM:201000
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Anal atresia, Persistent cloaca OMIM:615709
Baller-Gerold Syndrome
Malabsorption, Abnormality of the ureter, Cleft palate, Abnormal localization of kidney, Anterior... ORPHA:1225
Tarp Syndrome
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Neonatal death, Meckel... OMIM:311900
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Suleiman-El-Hattab Syndrome
Cryptorchidism, High palate, Hydronephrosis OMIM:618950
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Cryptorchidism, Megarectum, Vesicoureteral reflux, Mic... OMIM:301056
Netherton Syndrome
Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption ORPHA:634
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Cleft palate OMIM:618265
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Narrow ... ORPHA:96169
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, ... OMIM:229850
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Intestinal malrotation, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Hydronephrosis ORPHA:457193
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Cleft palate ORPHA:1727
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis ORPHA:2083
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Syringomyelia, Renal hypoplasia, Hydronephrosis OMIM:613735
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cleft palate, Ovarian... OMIM:109400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Cryptorchidism, Cleft palate, High palate, Protein-losing enteropathy, Micropen... OMIM:235255
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi... ORPHA:2745
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia OMIM:615989
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis, Cleft palate OMIM:616897
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormal renal morphology, Hydronephrosis, High palate, Abnormality of the uterus... ORPHA:1655
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... ORPHA:2510
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Hydronephrosis,... OMIM:617798
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Dysphagia, Testicular atrophy, Hydronephrosis OMIM:222300
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Mednik Syndrome
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon OMIM:609313
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, High palate, Umbilical hernia, Ureteral triplication, Hydronephrosis OMIM:104350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Cleft pa... ORPHA:453499
Intellectual Disability, Buenos-Aires Type
Umbilical hernia, High palate, Hydronephrosis ORPHA:3079
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis, Narrow palate ORPHA:364028
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Cryptorchidism, Hydronephrosis, High palate, Hypogonadism, Micropenis, Decre... OMIM:612513
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys... ORPHA:2237
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Death in infancy, Ureteral duplication, Renal insufficiency, Long-chain dicarbox... OMIM:608836
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric stenosis, Cryptorchidism, Renal cy... ORPHA:261494
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ... ORPHA:158684
Hallermann-Streiff Syndrome
Spina bifida, High, narrow palate, Cryptorchidism, Narrow palate, High palate OMIM:234100
Dubowitz Syndrome
Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ... ORPHA:235
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Precocious pu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bifida, Precocious pu... ORPHA:363958
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Hydronephrosis,... OMIM:616449
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Spinal dysra... OMIM:114290
Kury-Isidor Syndrome
High palate, Hydronephrosis OMIM:619762
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Hypospadias, Spina bifida, Renal hypoplasia, Horseshoe kidney, Pelvic kidney ORPHA:508498
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Absence of Stensen duc... OMIM:604292
Neu-Laxova Syndrome 1
Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Cleft palate, Stillbirth, Short umbil... OMIM:256520
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Cleft palate, Glosso... OMIM:611209
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Spina bifida OMIM:193500
Diphallia
Abnormality of the gastrointestinal tract, Bifid scrotum, Ureteral duplication, Rectoperineal fis... ORPHA:227
Fibular Hemimelia
Renal dysplasia, Spina bifida ORPHA:93323
Igg4-Related Aortitis
Intestinal obstruction, Hydronephrosis ORPHA:449400
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
15Q Overgrowth Syndrome
Ureterovesical stenosis, High, narrow palate, Hydrocephalus, Abnormal renal morphology, Horseshoe... ORPHA:314585
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Myelomeningocele, Hydrocephalus, Cleft palate, Hydronephrosis, Glosso... ORPHA:90652
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Death in childhood, Macroglo... OMIM:214100
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sept... OMIM:176450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Macroglossia, Gastroesophageal re... OMIM:301040
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Hypogonadotr... OMIM:129900
Au-Kline Syndrome
Cryptorchidism, Lipomyelomeningocele, Chronic kidney disease, Dilatation of the renal pelvis, Cle... OMIM:616580
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... OMIM:265380
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Hydronephrosis, Cleft palate ORPHA:488613
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Ambiguous genitalia, male, Hydranenceph... OMIM:260660
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... OMIM:270400
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula ORPHA:247262
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Proteinuria, Cryptorchidism, Hydrocephalus, Spinal cord tumor... ORPHA:2162
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder di... OMIM:613177
Rubinstein-Taybi Syndrome 1
Hypospadias, Spina bifida, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Cr... OMIM:180849
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Hydro... ORPHA:49041
Zaki Syndrome
Renal agenesis, High palate, Hydronephrosis OMIM:619648
Aicardi Syndrome
Spina bifida, Hiatus hernia, Precocious puberty, Cleft palate, Hepatoblastoma OMIM:304050
Apert Syndrome
Pyloric stenosis, Esophageal atresia, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft palate,... OMIM:101200
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasi... ORPHA:2953
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... ORPHA:1358
Raine Syndrome
Death in infancy, Hydroureter, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neona... OMIM:259775
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux... OMIM:615926
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Pelvic kidney, Hydronephrosis OMIM:613001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral rena... ORPHA:280633
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Hydronephro... ORPHA:85201
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... OMIM:263200
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia ORPHA:3016
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis ORPHA:1297
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypogonadism, High palate, Dysphagia, Decreased tes... ORPHA:261349
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Cryptorchidism, Renal hypoplasia, Cleft palate, Renal cyst, Microphallus, Vesicour... OMIM:618454
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, High palate, Vesicoureteral reflux, Ankyloglossia, Hydronephrosis ORPHA:250989
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cleft palate, Hydronephrosis, Bifid uvula, Renal dysplasia, Anal atresia OMIM:300968
Holoprosencephaly 3
Hydronephrosis, Holoprosencephaly, Bifid uvula, Cleft palate OMIM:142945
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate... OMIM:610443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus... OMIM:615287
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida OMIM:162200
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Protruding tongue OMIM:619179
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptor... ORPHA:93932
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Hypospadias, Nephroblastoma, Abnormality of the ureter, Neph... ORPHA:798
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Bifid ureter, Occipital ... OMIM:267750
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Hydrocephalus, Cleft palate, Anteriorly placed anus... OMIM:309801
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality of the urinary system, Micro... ORPHA:96092
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic ki... OMIM:618653
Autosomal Recessive Robinow Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephros... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Neurogenic bladder, Protruding tongue, Gastroesophageal reflux, Hydronephrosis OMIM:608779
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Stillbirth, Umbilical her... OMIM:304120
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Submucous cleft hard pa... ORPHA:1340
Mosaic Trisomy 8
Cryptorchidism, Cleft palate, Hydronephrosis, High palate, Vesicoureteral reflux, Decreased testi... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni... ORPHA:818
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Aganglionic megacolon, Spinal dysraphism, Malabsorption ORPHA:175
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Gastroesophageal reflux, Micr... ORPHA:464311
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Esophagitis ORPHA:541423
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Macroglossia, Umbilical hernia, Large placenta ORPHA:254528
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Cryptorchidism, Renal cyst, Gastroesoph... ORPHA:464306
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Intestinal malrot... OMIM:147920
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Hydrocephalus, Cleft palate, Nephr... ORPHA:264450
Recombinant 8 Syndrome
Small scrotum, Abnormality of the kidney, Cryptorchidism, Cleft palate, Hypoplastic male external... ORPHA:96167
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogeni... OMIM:619351
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Gastroesophageal reflux, Bifid uvula, Spina bifida OMIM:619480
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, High palate, Renal ar... OMIM:617913
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Crypto... OMIM:219000
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis, Cleft palate ORPHA:140
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fist... OMIM:619426
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tethered cord, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral refl... OMIM:618460
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Enuresis, Aplasia/Hypoplas... ORPHA:96121
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
X-Linked Dominant Chondrodysplasia Punctata
High palate, Hydronephrosis ORPHA:35173
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Submucous cleft hard palate, Gastroesophageal reflux, High palate, Hydronephrosis OMIM:115150
Takenouchi-Kosaki Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Distal Deletion 12Q
Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric steno... ORPHA:96149
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Hydronephrosis OMIM:620327
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Nephrolithiasis, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, Nep... OMIM:268310
Tarp Syndrome
Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Tongu... ORPHA:2886
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H... ORPHA:464738
Congenital Myopathy 17
Renal hypoplasia, Cleft palate, High palate, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Intestinal malrotation, Urinary i... ORPHA:2729
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes... ORPHA:352665
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoplasia of penis, Ureteral duplication, Hypospadias, Multicystic kidney dysp... ORPHA:373
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Webbed penis, Cryptorch... ORPHA:97360
Alg9-Cdg
Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Hydronephrosis, Bicornuate uteru... ORPHA:79328
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Nephrotic range proteinuria, Renal interstitial immunoglobulin ... ORPHA:449395
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent urinary tract infections, Cleft palate, Recurrent infection of the gastr... OMIM:251260
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Cleft palate, Stillbirth, Severe hydrocephalus, Abnormal ... OMIM:236680
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Small intest... ORPHA:100078
Kindler Epidermolysis Bullosa
Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ... ORPHA:2908
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Focal Dermal Hypoplasia
Ureteral duplication, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Myelomeningocele, Hy... OMIM:305600
Peters Plus Syndrome
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypopl... ORPHA:709
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... ORPHA:1772
Teebi-Shaltout Syndrome
Ureteral stenosis, High, narrow palate, Cleft palate, Horseshoe kidney, Hydronephrosis OMIM:272950
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Cleft palate, Micropenis, Hydronephrosis ORPHA:163979
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dys... OMIM:606170
3Mc Syndrome 1
Spina bifida occulta, Hydronephrosis, Cleft palate OMIM:257920
Coffin-Siris Syndrome 1
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic kidney, Cryptorchidism,... OMIM:135900
Gabriele-De Vries Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, High palate, Hydronephrosis OMIM:617557
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Aq... ORPHA:138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Stillbirth, Hydronephrosis, Unilateral renal agenesis OMIM:308050
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Cleft palate, Hydronephrosis, Spina bifida occulta, Bifi... ORPHA:1826
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic... OMIM:269150
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Bifid uvula, Cleft palate OMIM:614921
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... DECIPHER:81
Frontometaphyseal Dysplasia 1
Hydroureter, High palate, Hydronephrosis, Cleft palate OMIM:305620
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys... ORPHA:93271
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal... OMIM:601776
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Celiac disease, Cryptorchidism, Precocious puberty, Dilatation of th... ORPHA:2044
Charge Syndrome
Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Renal agenesis, Esopha... OMIM:214800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Cleft pala... OMIM:612541
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Cryptorchidism, Re... ORPHA:1606
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins... ORPHA:900
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Cryptorchidism, Hydrocephalus, Abnormal spin... ORPHA:3310
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... ORPHA:2556
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Tethered cord, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchid... OMIM:619522
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Cryptorchidism, Nephroli... ORPHA:353281
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... ORPHA:1896
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal OMIM:611812
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephro... OMIM:136140
Craniofacioskeletal Syndrome
Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate OMIM:300712
C Syndrome
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnorma... ORPHA:1308
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Cleft palate, Hydrocele testis, Umbilical hernia, Ureteropelvic jun... OMIM:280000
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Hydronephrosis OMIM:304150
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hamartoma of tongue, Cleft palate... ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Cleft palate, High palate, Dysphagia, Ureteropelvic junction obstruction, Hyd... OMIM:616973
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Cleft palate, Sirenomelia, Neph... ORPHA:79500
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Narrow palate, Hypoplastic labia majora, Macroglossia, Clitoral hypoplasia, High ... OMIM:180700
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocepha... OMIM:312870
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Hydronephrosis, Cleft palate OMIM:309350
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria ORPHA:35687
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Elsahy-Waters Syndrome
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... OMIM:211380
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... OMIM:610644
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, External genital hypoplasia, Cryptorchidism, Large placenta, Spinal dysraphism, Macr... ORPHA:96334
Mesomelia-Synostoses Syndrome
Hydronephrosis, Short umbilical cord, Absent uvula OMIM:600383
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Hydronephrosis OMIM:619269
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Intestinal malrotation, Bilateral cryptorchidism, Cleft palat... OMIM:616268
Monosomy 22Q13.3
Renal dysplasia, Gastroesophageal reflux, Vesicoureteral reflux, Umbilical hernia, Recurrent pyel... ORPHA:48652
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... ORPHA:353277
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, High palate, Distal ren... ORPHA:2785
Johanson-Blizzard Syndrome
Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Malabsorption, Urethrovag... OMIM:243800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Oral-pharyngeal dysphagia, Intestinal perforation, Moderate a... ORPHA:95455
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal... OMIM:261540
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Glycosuria, Colon perforation, Umbilical hernia, Mi... OMIM:600001
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, High, narrow palate, Cleft palat... OMIM:188400
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Cryptorchidism, Esophageal atresia, High palate, Ureteropelvic junctio... ORPHA:506358
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Cleft palate ORPHA:3474
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, S... ORPHA:2636
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis ORPHA:83617
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Renal hypoplasia, Hydronephrosis, Bicornuate uterus, Dysphagia, Vesic... ORPHA:2363
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Dilatation... OMIM:619534
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Aminoacidur... OMIM:619991
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, Abnormality of the... ORPHA:821
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Hydrocephalus, Submucou... OMIM:607872
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, High palate, Hydronephrosis ORPHA:363700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... ORPHA:2273
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vesicourete... ORPHA:2152
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Large placenta, Submucous cleft hard palate, Short umbilical c... ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Bifid uvula, High palate, Umbilical hernia, Hydronephrosis OMIM:620330
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... ORPHA:261537
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, H... ORPHA:3455
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Vesicoureteral reflux, Nephrolithiasis, Gastroesophageal refl... ORPHA:438213
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... ORPHA:261552
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Cleft palate, High palate, Hydronephrosis, Anal atresia ORPHA:480880
Osteogenesis Imperfecta, Type Vii
Death in infancy, Hydronephrosis OMIM:610682
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093

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 Sestd1

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 Sestd1.

No publications found that use IMPC mice or data for Sestd1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Sestd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sestd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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