Details of Disease

General Information of Disease (ID: DIS79NS3)

Disease Name Familial digital arthropathy-brachydactyly
Synonyms digital arthropathy-brachydactyly, familial; FDAB
Definition
Familial digital arthropathy-brachydactyly is characterized 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.
Disease Hierarchy
DIS3LICD: Congenital limb malformation
DISRJWLL: TRPV4-related bone disorder
DIS79NS3: Familial digital arthropathy-brachydactyly
Disease Identifiers
MONDO ID
MONDO_0011732
MESH ID
C564656
UMLS CUI
C1847406
OMIM ID
606835
MedGen ID
335678
Orphanet ID
85169

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPV4 TTKP2SU Limited Genetic Variation [1]
TRPV4 TTKP2SU Supportive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPV4 OTPZKQLX Supportive Autosomal dominant [2]
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References

1 Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?.Orphanet J Rare Dis. 2019 Jun 27;14(1):156. doi: 10.1186/s13023-019-1138-x.
2 Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet. 2011 Oct 2;43(11):1142-6. doi: 10.1038/ng.945.