Familial digital arthropathy-brachydactyly

Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0004268 Osteoarthritis of the small joints of the hand Very frequent (99-80%)
HP:0005793 Shortening of all distal phalanges of the toes Very frequent (99-80%)
HP:0005819 Short middle phalanx of finger Very frequent (99-80%)
HP:0006239 Shortening of all middle phalanges of the toes Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TRPV4 transient receptor potential cation channel subfamily V member 4 59341