DISEASE: Familial digital arthropathy-brachydactyly
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 disease
Brite
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