Mowat-Wilson Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Mowat-Wilson Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal
Inheritance: autosomal dominant inheritance
Penetrance: penetrance appears to be complete...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases
Disease Ontology:11 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 intellectual disability, microcephaly and high forehead. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and kidney.
UniProtKB/Swiss-Prot:69 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.
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.
OMIM:51 Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null... (235730) more...
NIH Rare Diseases:47 Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person. Last updated: 3/10/2014
GeneReviews for NBK1412
Human phenotypes related to Mowat-Wilson Syndrome:63 53 (show all 86)
UMLS symptoms related to Mowat-Wilson Syndrome:constipation, drooling, seizures, vomiting
MalaCards organs/tissues related to Mowat-Wilson Syndrome:35
Eye, Heart, Kidney, Cerebellum, Testes
Articles related to Mowat-Wilson Syndrome:(show top 49) (show all 76)
UniProtKB/Swiss-Prot genetic disease variations for Mowat-Wilson Syndrome:69
Clinvar genetic disease variations for Mowat-Wilson Syndrome:5 (show all 88)
Copy number variations for Mowat-Wilson Syndrome from CNVD:6
Search GEO for disease gene expression data for Mowat-Wilson Syndrome.
Biological processes related to Mowat-Wilson Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet