| H00910 | |
| H number | H00910 |
| Name | Hirschsprung disease |
| Description | Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells. |
| Category | Congenital malformation |
| Network | nt06526(H00910) MAPK signaling |
| Gene | (HSCR1) RET [HSA:5979] [KO:K05126] (HSCR2) EDNRB [HSA:1910] [KO:K04198] (HSCR3) GDNF [HSA:2668] [KO:K05452] (HSCR4) EDN3 [HSA:1908] [KO:K05227] (HCAD) ECE1 [HSA:1889] [KO:K01415] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Following syndromes are Hirschsprung-like phenotypes. Bardet-Biedl syndrome [DS:H00418] Shprintzen-Goldberg syndrome [DS:H00659] Waardenburg syndrome [DS:H00759] Mowat-Wilson syndrome [DS:H00908] |
| Other DBs | ICD-11: LB16.1 ICD-10: Q43.1 MeSH: D006627 OMIM: 142623 600155 613711 613712 613870 |
| Reference | PMID:20307847 AUTHORS Mundt E, Bates MD TITLE Genetics of Hirschsprung disease and anorectal malformations. JOURNAL Semin Pediatr Surg 19:107-17 (2010) DOI:10.1053/j.sempedsurg.2009.11.015 PMID:14765367 AUTHORS Puri P, Shinkai T TITLE Pathogenesis of Hirschsprung's disease and its variants: recent progress. JOURNAL Semin Pediatr Surg 13:18-24 (2004) DOI:10.1053/j.sempedsurg.2003.09.004 PMID:8114938 (RET) AUTHORS Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al. TITLE Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. JOURNAL Nature 367:377-8 (1994) DOI:10.1038/367377a0 PMID:8001158 (EDNRB) AUTHORS Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A TITLE A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. JOURNAL Cell 79:1257-66 (1994) DOI:10.1016/0092-8674(94)90016-7 PMID:8896568 (GDNF) AUTHORS Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A TITLE Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. JOURNAL Nat Genet 14:341-4 (1996) DOI:10.1038/ng1196-341 PMID:9359047 (EDN3) AUTHORS Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S TITLE Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. JOURNAL Eur J Hum Genet 5:247-51 (1997) PMID:9915973 (ECE1) AUTHORS Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH TITLE A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. JOURNAL Am J Hum Genet 64:304-8 (1999) DOI:10.1086/302184 |