KEGG   DISEASE: Familial digital arthropathy-brachydactylyHelp
Entry
H02062                      Disease                                

Name
Familial digital arthropathy-brachydactyly
Description
Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.
Category
Musculoskeletal diseases
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H02062  Familial digital arthropathy-brachydactyly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02062  Familial digital arthropathy-brachydactyly
BRITE hierarchy
Gene
TRPV4 [HSA:59341] [KO:K04973]
Other DBs
ICD-11: LD24.8Y
ICD-10: M06.8
OMIM: 606835
Reference
  Authors
Lamande SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF
  Title
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
  Journal
Nat Genet 43:1142-6 (2011)
DOI:10.1038/ng.945

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