Preferred Label : Hirschsprung disease, susceptibility to, 2;
Symbol : HSCR2;
CISMeF acronym : HSCR2;
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). For a general description and a discussion of genetic heterogeneity of Hirschsprung
disease (HSCR), see 142623.;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the endothelin receptor type B gene (EDNRB,
131244.0001);
Prefixed ID : #600155;
Origin ID : 600155;
UMLS CUI : C1838564;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
