| H00910 | |
| H番号 | H00910 |
| 名称 | ヒルシュスプルング病 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06526(H00910) MAPK signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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] |
| リンク | ICD-11: LB16.1 ICD-10: Q43.1 MeSH: D006627 OMIM: 142623 600155 613711 613712 613870 |
| 文献 | PMID:20307847 著者 Mundt E, Bates MD タイトル Genetics of Hirschsprung disease and anorectal malformations. 雑誌 Semin Pediatr Surg 19:107-17 (2010) DOI:10.1053/j.sempedsurg.2009.11.015 PMID:14765367 著者 Puri P, Shinkai T タイトル Pathogenesis of Hirschsprung's disease and its variants: recent progress. 雑誌 Semin Pediatr Surg 13:18-24 (2004) DOI:10.1053/j.sempedsurg.2003.09.004 PMID:8114938 (RET) 著者 Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al. タイトル Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 雑誌 Nature 367:377-8 (1994) DOI:10.1038/367377a0 PMID:8001158 (EDNRB) 著者 Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A タイトル A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. 雑誌 Cell 79:1257-66 (1994) DOI:10.1016/0092-8674(94)90016-7 PMID:8896568 (GDNF) 著者 Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A タイトル Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 雑誌 Nat Genet 14:341-4 (1996) DOI:10.1038/ng1196-341 PMID:9359047 (EDN3) 著者 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 タイトル Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 雑誌 Eur J Hum Genet 5:247-51 (1997) PMID:9915973 (ECE1) 著者 Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH タイトル A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 雑誌 Am J Hum Genet 64:304-8 (1999) DOI:10.1086/302184 |