| H00855 | |
| H番号 | H00855 |
| 名称 | 3節母指・多合指症候群 |
| 概要 | Triphalangeal thumb (TPT) is a rare human hand-foot malformation characterized by a long, finger-like thumb with three phalanges. It can occur either in isolated form or in association with other defects such as triphalangeal thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | LMBR1 (mutation in intron 5) [HSA:64327] [KO:K25217] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.2 ICD-10: Q74.0 MeSH: C573898 OMIM: 174500 |
| 文献 | PMID:16424565 著者 Jain V タイトル Bilateral triphalangeal thumbs. 雑誌 Indian Pediatr 42:1246-7 (2005) PMID:17300748 著者 Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X タイトル A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 雑誌 Biochem Biophys Res Commun 355:312-7 (2007) DOI:10.1016/j.bbrc.2007.01.129 PMID:20068592 著者 Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman S, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW タイトル Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. 雑誌 Eur J Hum Genet 18:733-6 (2010) DOI:10.1038/ejhg.2009.225 PMID:12837695 著者 Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E タイトル A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. 雑誌 Hum Mol Genet 12:1725-35 (2003) DOI:10.1093/hmg/ddg180 PMID:21342803 著者 Gosk J, Rutowski R, Urban M, Koszewicz M, Moron K タイトル Rare triphalangeal thumb polydactyly: a case report. 雑誌 J Plast Reconstr Aesthet Surg 64:e165-6 (2011) DOI:10.1016/j.bjps.2011.01.011 PMID:10869115 著者 Kantaputra PN, Chalidapong P タイトル Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. 雑誌 Am J Med Genet 93:126-31 (2000) DOI:10.1002/1096-8628(20000717)93:2<126::AID-AJMG9>3.0.CO;2-S |