Hirschsprung disease, susceptibility to, 4

Preferred Label : Hirschsprung disease, susceptibility to, 4;

Symbol : HSCR4;

CISMeF acronym : HSCR4;

Type : Phenotype, molecular basis known;

Description : The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the endothelin 3 gene (EDN3, 131242.0004);

Prefixed ID : #613712;

Details

Origin ID

613712;

UMLS CUI

C3150975;

Automatic exact mappings (from CISMeF team)
- EDN3 wt Allele [NCIt concept]
Genes related to phenotype
- Endothelin 3 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
ORDO concept(s)
- Hirschsprung disease [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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