| H00471 | |
| H number | H00471 |
| Name | Split-hand/foot malformation |
| Description | Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients. |
| Category | Congenital malformation |
| Network | nt06526(H00471) MAPK signaling |
| Gene | (SHFM4) TP63 [HSA:8626] [KO:K10149] (SHFM6) WNT10B [HSA:7480] [KO:K01357] (SHFM1D) DLX5 [HSA:1749] [KO:K18489] (SFMMP) MAP3K20 [HSA:51776] [KO:K04424] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss. SFMMP refers to split-foot malformation with mesoaxial polydactyly. |
| Other DBs | ICD-11: LB99.8 LB9A.6 ICD-10: Q71.6 Q72.7 MeSH: C567893 C564056 C565437 C565344 C564674 C567616 OMIM: 183600 605289 225300 220600 616890 |
| Reference | PMID:16283879 AUTHORS Elliott AM, Evans JA, Chudley AE TITLE Split hand foot malformation (SHFM). JOURNAL Clin Genet 68:501-5 (2005) DOI:10.1111/j.1399-0004.2005.00530.x PMID:16763964 AUTHORS Basel D, Kilpatrick MW, Tsipouras P TITLE The expanding panorama of split hand foot malformation. JOURNAL Am J Med Genet A 140:1359-65 (2006) DOI:10.1002/ajmg.a.31304 PMID:12668597 AUTHORS Duijf PH, van Bokhoven H, Brunner HG TITLE Pathogenesis of split-hand/split-foot malformation. JOURNAL Hum Mol Genet 12 Spec No 1:R51-60 (2003) DOI:10.1093/hmg/ddg090 PMID:10839977 (SHFM4) AUTHORS Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P TITLE Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. JOURNAL Am J Hum Genet 67:59-66 (2000) DOI:10.1086/302972 PMID:21554266 (SHFM6) AUTHORS Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W TITLE A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. JOURNAL Clin Genet 82:48-55 (2012) DOI:10.1111/j.1399-0004.2011.01698.x PMID:22121204 (SHFM1D) AUTHORS Shamseldin HE, Faden MA, Alashram W, Alkuraya FS TITLE Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. JOURNAL J Med Genet 49:16-20 (2012) DOI:10.1136/jmedgenet-2011-100556 PMID:26755636 (SFMMP) AUTHORS Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G TITLE Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. JOURNAL Genome Res 26:183-91 (2016) DOI:10.1101/gr.199430.115 |