H00460 | |
H number | H00460 |
Name | Hand-foot-genital syndrome |
Description | Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract. |
Category | Congenital malformation |
Network | - |
Gene | HOXA13 [HSA:3209] [KO:K09298] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q51.5 MeSH: C535627 OMIM: 140000 |
Reference | PMID:21782042 AUTHORS Brison N, Tylzanowski P, Debeer P TITLE Limb skeletal malformations - what the HOX is going on? JOURNAL Eur J Med Genet 55:1-7 (2012) DOI:10.1016/j.ejmg.2011.06.003 PMID:10839976 AUTHORS Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ TITLE Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. JOURNAL Am J Hum Genet 67:197-202 (2000) DOI:10.1086/302961 |