H00459 | |
H number | H00459 |
Name | Synpolydactyly |
Description | Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1. |
Category | Congenital malformation |
Network | - |
Gene | (SPD1) HOXD13 [HSA:3239] [KO:K09298] (SPD2) FBLN1 [HSA:2192] [KO:K17307] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LB79.Y ICD-10: Q70.0 Q70.2 MeSH: C538153 C564278 OMIM: 186000 608180 |
Reference | PMID:12357469 AUTHORS Goodman FR TITLE Limb malformations and the human HOX genes. JOURNAL Am J Med Genet 112:256-65 (2002) DOI:10.1002/ajmg.10776 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:18177473 AUTHORS Malik S, Grzeschik KH TITLE Synpolydactyly: clinical and molecular advances. JOURNAL Clin Genet 73:113-20 (2008) DOI:10.1111/j.1399-0004.2007.00935.x PMID:8817328 (SPD1) AUTHORS Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M TITLE Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. JOURNAL Hum Mol Genet 5:945-52 (1996) DOI:10.1093/hmg/5.7.945 PMID:11836357 (SPD2) AUTHORS Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ TITLE The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. JOURNAL J Med Genet 39:98-104 (2002) DOI:10.1136/jmg.39.2.98 |