Hirschsprung disease, susceptibility to, 1

Preferred Label : Hirschsprung disease, susceptibility to, 1;

Symbol : HSCR1;

CISMeF acronym : HSCR; HSCR1; MGC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hirschsprung disease; Aganglionic megacolon; Megacolon, aganglionic; HSCR; MGC;

Included titles and symbols : Hirschsprung disease, protection against;

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 (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. - Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RET protooncogene (RET, 164761.0014);

Laboratory abnormalities : Absent enteric ganglia beginning at the rectum and extends proximally by varying degrees; Acetylcholinesterase staining reveals nerve trunk hypertrophy;

Prefixed ID : #142623;

Details

Origin ID

142623;

UMLS CUI

C3888239;

Automatic exact mappings (from CISMeF team)
- Aganglionic megacolon [HPO term]
- Aganglionic megacolon [MedDRA LLT]
- EDNRB wt Allele [NCIt concept]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung disease [Artificial nutrition thesaurus concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease 1 [MeSH concept]
- Hirschsprung's disease [DO Concept]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- cat-scratch disease [MeSH Descriptor]
- congenital aganglionosis of colon [Radlex concept]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung disease [MeSH concept]
- hirschsprung disease 1 [MeSH Supplementary Concept]
- hirschsprung's disease [SNOMED Notion]
- symbol withdrawn HSCR1 [HGNC gene]
Broader ORDO disease(s)
- Hirschsprung disease [ORDO Disease]
Genes related to phenotype
- Ret protooncogene [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of enteric ganglion morphology [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel [HPO term]
- Constipation [HPO term]
- Enterocolitis [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Hirschsprung disease [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- congenital megacolon [Disease (Nov.)]

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