Mowat-Wilson Syndrome

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OMIM 57 235730 Disease Ontology 12 DOID:0060485 MeSH 44 C536990 D006627 D008607 D008831 more NCIt 50 C74999 SNOMED-CT 68 703535000 Orphanet 59 ORPHA2152 MESH via Orphanet 45 C536990

UMLS via Orphanet 74 C1856113 ICD10 via Orphanet 34 Q43.1 MedGen 42 C1856113 KEGG 37 H00908 SNOMED-CT via HPO 69 263681008 204878001 204888000 236780002 197811007 16507009 43064006 63567004 87979003 43437003 262016004 80281008 27272007 271611007 194021007 22006008 253251006 249321001 128602000 22066006 246923005 80093006 246800008 11934000 16596007 204108000 61142002 563001 5639000 162294008 229721007 29164008 62415009 391987005 205101001 249768009 128613002 246545002 313307000 84757009 91175000 398151007 398152000 5102002 253549006 30288003 253366007 405752007 70142008 86299006 56786000 83330001 122480009 415692008 90145001 249497008 300359004 422400008 14760008 225595004 204043002 278849000 247546006 204739008 33995003 367495003 275295002 53827007 62718007 50956007 41931001 60728008 237836003 95441000 249769001 268251006 34048007 40700009 202281000 more UMLS 73 C1856113

Disease Ontology : ¹² A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

MalaCards based summary : Mowat-Wilson Syndrome, also known as hirschsprung disease-mental retardation syndrome, is related to mowat-wilson syndrome due to monosomy 2q22 and mowat-wilson syndrome due to a zeb2 point mutation, and has symptoms including constipation, seizures and vomiting. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and brain, and related phenotypes are hypertelorism and frontal bossing

OMIM : ⁵⁷ Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (609367) located on 10q. (235730)

UniProtKB/Swiss-Prot : ⁷⁵ Mowat-Wilson syndrome: A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.

NIH Rare Diseases : ⁵³ Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. MWS is caused by a mutation in the ZEB2 gene. It typically occurs for the first time in a person with MWS and is not inherited from a parent. Vary rarely, more than one child in a family will have MWS. Treatment depends on the symptoms present and focuses on the specific needs of each person.

Genetics Home Reference : ²⁵ Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

Wikipedia : ⁷⁶ Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. D. R. Mowat and... more...

GeneReviews: NBK1412

Clinical features from OMIM:

235730

Search Clinical Trials , NIH Clinical Center for Mowat-Wilson Syndrome

Search GEO for disease gene expression data for Mowat-Wilson Syndrome.