KEGG   DISEASE: Brachydactyly-syndactyly syndrome
Entry
H00870                      Disease                                
Name
Brachydactyly-syndactyly syndrome
Description
This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] and synpolydactyly [DS:H00459].
Category
Congenital malformation
Brite
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
    H00870  Brachydactyly-syndactyly syndrome
Gene
HOXD13 [HSA:3239] [KO:K09298]
Other DBs
ICD-11: LD26.2
ICD-10: Q73.8
MeSH: C565193
OMIM: 610713
Reference
PMID:17236141
  Authors
Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X
  Title
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
  Journal
Am J Hum Genet 80:361-71 (2007)
DOI:10.1086/511387
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