| H00855 | |
| H number | H00855 |
| Name | Triphalangeal thumb-polysyndactyly syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | LMBR1 (mutation in intron 5) [HSA:64327] [KO:K25217] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.2 ICD-10: Q74.0 MeSH: C573898 OMIM: 174500 |
| Reference | PMID:16424565 AUTHORS Jain V TITLE Bilateral triphalangeal thumbs. JOURNAL Indian Pediatr 42:1246-7 (2005) PMID:17300748 AUTHORS Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X TITLE A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. JOURNAL Biochem Biophys Res Commun 355:312-7 (2007) DOI:10.1016/j.bbrc.2007.01.129 PMID:20068592 AUTHORS 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 TITLE 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. JOURNAL Eur J Hum Genet 18:733-6 (2010) DOI:10.1038/ejhg.2009.225 PMID:12837695 AUTHORS Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E TITLE A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. JOURNAL Hum Mol Genet 12:1725-35 (2003) DOI:10.1093/hmg/ddg180 PMID:21342803 AUTHORS Gosk J, Rutowski R, Urban M, Koszewicz M, Moron K TITLE Rare triphalangeal thumb polydactyly: a case report. JOURNAL J Plast Reconstr Aesthet Surg 64:e165-6 (2011) DOI:10.1016/j.bjps.2011.01.011 PMID:10869115 AUTHORS Kantaputra PN, Chalidapong P TITLE 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. JOURNAL Am J Med Genet 93:126-31 (2000) DOI:10.1002/1096-8628(20000717)93:2<126::AID-AJMG9>3.0.CO;2-S |