| Name | Hirschsprung disease, susceptibility to, 5 |
| 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 [PubMed 17965226]). 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 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011] |
| NCBI Gene ID | 404720 |
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HSCR5 has 2 functional associations with biological entities spanning 1 categories (disease, phenotype or trait) extracted from 2 datasets.
Click the + buttons to view associations for HSCR5 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| CTD Gene-Disease Associations | diseases associated with HSCR5 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with HSCR5 gene from the curated OMIM Gene-Disease Associations dataset. | |
