| H00463 | |
| H番号 | H00463 |
| 名称 | Currarino 症候群 |
| 概要 | Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HLXB9 [HSA:3110] [KO:K08025] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q42 MeSH: C536221 OMIM: 176450 |
| 文献 | PMID:6789651 著者 Currarino G, Coln D, Votteler T タイトル Triad of anorectal, sacral, and presacral anomalies. 雑誌 AJR Am J Roentgenol 137:395-8 (1981) DOI:10.2214/ajr.137.2.395 PMID:8740138 著者 Kochling J, Pistor G, Marzhauser Brands S, Nasir R, Lanksch WR タイトル The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. 雑誌 Eur J Pediatr Surg 6:114-9 (1996) DOI:10.1055/s-2008-1066487 PMID:18449898 著者 Cretolle C, Pelet A, Sanlaville D, Zerah M, Amiel J, Jaubert F, Revillon Y, Baala L, Munnich A, Nihoul-Fekete C, Lyonnet S タイトル Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. 雑誌 Hum Mutat 29:903-10 (2008) DOI:10.1002/humu.20718 PMID:10749657 著者 Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T タイトル Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. 雑誌 Am J Hum Genet 66:1504-15 (2000) DOI:10.1086/302899 |