Digital Arthropathy-Brachydactyly, Familial (FDAB)

External Ids:

OMIM 57 606835 Orphanet 59 ORPHA85169 ICD10 via Orphanet 34 M06.8 UMLS via Orphanet 74 C1847406 MedGen 42 C1847406

MeSH 44 D006226 D059327 KEGG 37 H02062 SNOMED-CT via HPO 69 263681008 43476002 399269003 20511007 more UMLS 73 C1847406

OMIM : ⁵⁷ Individuals with familial digital arthropathy-brachydactyly appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature (Lamande et al., 2011). (606835)

MalaCards based summary : Digital Arthropathy-Brachydactyly, Familial, also known as familial digital arthropathy-brachydactyly, is related to split-hand/foot malformation 1 and windblown hand. An important gene associated with Digital Arthropathy-Brachydactyly, Familial is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include skin and bone, and related phenotypes are brachydactyly and short distal phalanx of finger

UniProtKB/Swiss-Prot : ⁷⁵ Digital arthropathy-brachydactyly, familial: A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected.

Clinical features from OMIM:

606835

Search Clinical Trials , NIH Clinical Center for Digital Arthropathy-Brachydactyly, Familial

Search GEO for disease gene expression data for Digital Arthropathy-Brachydactyly, Familial.