| H00471 | |
| H番号 | H00471 |
| 名称 | 裂手/裂足症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06526(H00471) MAPK signaling |
| 病因遺伝子 | (SHFM4) TP63 [HSA:8626] [KO:K10149] (SHFM6) WNT10B [HSA:7480] [KO:K01357] (SHFM1D) DLX5 [HSA:1749] [KO:K18489] (SFMMP) MAP3K20 [HSA:51776] [KO:K04424] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss. SFMMP refers to split-foot malformation with mesoaxial polydactyly. |
| リンク | 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 |
| 文献 | PMID:16283879 著者 Elliott AM, Evans JA, Chudley AE タイトル Split hand foot malformation (SHFM). 雑誌 Clin Genet 68:501-5 (2005) DOI:10.1111/j.1399-0004.2005.00530.x PMID:16763964 著者 Basel D, Kilpatrick MW, Tsipouras P タイトル The expanding panorama of split hand foot malformation. 雑誌 Am J Med Genet A 140:1359-65 (2006) DOI:10.1002/ajmg.a.31304 PMID:12668597 著者 Duijf PH, van Bokhoven H, Brunner HG タイトル Pathogenesis of split-hand/split-foot malformation. 雑誌 Hum Mol Genet 12 Spec No 1:R51-60 (2003) DOI:10.1093/hmg/ddg090 PMID:10839977 (SHFM4) 著者 Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P タイトル Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 雑誌 Am J Hum Genet 67:59-66 (2000) DOI:10.1086/302972 PMID:21554266 (SHFM6) 著者 Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W タイトル A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 雑誌 Clin Genet 82:48-55 (2012) DOI:10.1111/j.1399-0004.2011.01698.x PMID:22121204 (SHFM1D) 著者 Shamseldin HE, Faden MA, Alashram W, Alkuraya FS タイトル Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 雑誌 J Med Genet 49:16-20 (2012) DOI:10.1136/jmedgenet-2011-100556 PMID:26755636 (SFMMP) 著者 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 タイトル Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. 雑誌 Genome Res 26:183-91 (2016) DOI:10.1101/gr.199430.115 |