Preferred Label : Digital arthropathy-brachydactyly, familial;
Symbol : FDAB;
CISMeF acronym : FDAB;
Type : Phenotype, molecular basis known;
Description : 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).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V,
member 4 gene (TRPV4, 605427.0030);
Prefixed ID : #606835;
Origin ID : 606835;
UMLS CUI : C1847406;
CISMeF manual mappings
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
