Mowat-Wilson Syndrome (MOWS)

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Disease Ontology 12 DOID:0060485 OMIM 58 235730 KEGG 38 H00908 MeSH 45 C536990 D006627 D008607 D008831 more NCIt 51 C74999 MESH via Orphanet 46 C536990

ICD10 via Orphanet 35 Q43.1 UMLS via Orphanet 75 C1856113 Orphanet 60 ORPHA2152 ORPHA261537 ORPHA261552 MedGen 43 C1856113 SNOMED-CT via HPO 70 11934000 122480009 128602000 128613002 13213009 14760008 16507009 16596007 194021007 197811007 202281000 204043002 204108000 204739008 204878001 204888000 205101001 22006008 22066006 225595004 236780002 237836003 246545002 246800008 246923005 247546006 249321001 249497008 249768009 249769001 253251006 253366007 253549006 262016004 263681008 268251006 271611007 27272007 275295002 278849000 300359004 30288003 313307000 33995003 34048007 367403001 367495003 391987005 398151007 398152000 405752007 40700009 415692008 41931001 422400008 43064006 43437003 44513007 50956007 5102002 53827007 563001 5639000 56786000 60728008 61142002 62718007 63567004 70142008 80093006 80281008 83330001 84757009 86299006 87979003 90145001 90708001 91175000 95441000 more UMLS 74 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 muckle-wells syndrome and marden-walker syndrome, and has symptoms including seizures, constipation 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 frontal bossing and microcephaly

Genetics Home Reference : ²⁶ 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.

NIH Rare Diseases : ⁵⁴ 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.

OMIM : ⁵⁸ 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 : ⁷⁶ 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.

Wikipedia : ⁷⁷ 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.