KEGG   DISEASE: Triphalangeal thumb-polysyndactyly syndromeHelp
Entry
H00855                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00855  Triphalangeal thumb-polysyndactyly syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00855  Triphalangeal thumb-polysyndactyly syndrome
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
LMBR1 (mutation in intron 5) [HSA:64327]
Other DBs
ICD-11: LD26.2
ICD-10: Q74.0
MeSH: C573898
OMIM: 174500
Reference
  Authors
Jain V
  Title
Bilateral triphalangeal thumbs.
  Journal
Indian Pediatr 42:1246-7 (2005)
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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