Mowat-wilson syndrome

Preferred Label : Mowat-wilson syndrome;

Symbol : MOWS;

CISMeF acronym : MOWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease; Hirschsprung disease-mental retardation syndrome;

Description : 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 megacolon syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen megacolon syndrome is caused by mutation in the KIAA1279 gene (609367) located on 10q.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger E box-binding homeobox 2 gene (ZEB2, 605802.0001);

Laboratory abnormalities : Absent enteric ganglia beginning at rectum and extending proximally by varying degrees;

Prefixed ID : #235730;

Details

Origin ID

235730;

UMLS CUI

C1856113;

Currated CISMeF NLP mapping
- Mowat-Wilson Syndrome [NCIt concept]
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome [ICD-11 More detail]
- Mowat-Wilson syndrome [MeSH concept]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Mowat-Wilson syndrome [DO Concept]
Genes related to phenotype
- Zinc finger e box-binding homeobox 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal corpus callosum morphology [HPO term]
- Abnormal eye morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormal hippocampus morphology [HPO term]
- Abnormality of enteric ganglion morphology [HPO term]
- Abnormality of the genital system [HPO term]
- Abnormality of the kidney [HPO term]
- Absent speech [HPO term]
- Aganglionic megacolon [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aplasia/Hypoplasia of the cerebral white matter [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel [HPO term]
- Bifid scrotum [HPO term]
- Broad eyebrow [HPO term]
- Cataract [HPO term]
- Chorioretinal coloboma [HPO term]
- Cleft palate [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Ectopia pupillae [HPO term]
- Esotropia [HPO term]
- Fleshy upturned lobules [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle hypertrophy [HPO term]
- Happy demeanor [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Iris coloboma [HPO term]
- Large basal ganglia [HPO term]
- Large earlobe [HPO term]
- Low hanging columella [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pointed chin [HPO term]
- Prominent nasal tip [HPO term]
- Ptosis [HPO term]
- Pulmonary artery sling [HPO term]
- Pulmonary artery stenosis [HPO term]
- Pulmonic stenosis [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Supernumerary nipple [HPO term]
- Tooth malposition [HPO term]
- Uplifted earlobe [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vomiting [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome due to a ZEB2 point mutation [ORDO Disease]
- Mowat-Wilson syndrome due to monosomy 2q22 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mowat-Wilson Syndrome [NCIt concept]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [MeSH concept]
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]

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