| H00463 | |
| H number | H00463 |
| Name | Currarino syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | HLXB9 [HSA:3110] [KO:K08025] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q42 MeSH: C536221 OMIM: 176450 |
| Reference | PMID:6789651 AUTHORS Currarino G, Coln D, Votteler T TITLE Triad of anorectal, sacral, and presacral anomalies. JOURNAL AJR Am J Roentgenol 137:395-8 (1981) DOI:10.2214/ajr.137.2.395 PMID:8740138 AUTHORS Kochling J, Pistor G, Marzhauser Brands S, Nasir R, Lanksch WR TITLE The Currarino syndrome--hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. JOURNAL Eur J Pediatr Surg 6:114-9 (1996) DOI:10.1055/s-2008-1066487 PMID:18449898 AUTHORS Cretolle C, Pelet A, Sanlaville D, Zerah M, Amiel J, Jaubert F, Revillon Y, Baala L, Munnich A, Nihoul-Fekete C, Lyonnet S TITLE Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. JOURNAL Hum Mutat 29:903-10 (2008) DOI:10.1002/humu.20718 PMID:10749657 AUTHORS 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 TITLE Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. JOURNAL Am J Hum Genet 66:1504-15 (2000) DOI:10.1086/302899 |