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FDAB
MCID: DGT005
MIFTS: 34
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Digital Arthropathy-Brachydactyly, Familial (FDAB)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Digital Arthropathy-Brachydactyly, Familial:
Characteristics:Orphanet epidemiological data:58
familial digital arthropathy-brachydactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in first decade of life changes more marked in hands than feet HPO:31
digital arthropathy-brachydactyly, familial:
Inheritance autosomal dominant inheritance Onset and clinical course juvenile onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM :
56
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 arthrogryposis, distal, type 2a. An important gene associated with Digital Arthropathy-Brachydactyly, Familial is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). The drugs Valproic acid and Vitamin C have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are brachydactyly and short distal phalanx of finger KEGG : 36 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. UniProtKB/Swiss-Prot : 73 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. |
Human phenotypes related to Digital Arthropathy-Brachydactyly, Familial:58 31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:606835 |
Drugs for Digital Arthropathy-Brachydactyly, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:(show all 11)
Cochrane evidence based reviews: hand deformities |
MalaCards organs/tissues related to Digital Arthropathy-Brachydactyly, Familial:40
Bone,
Skin
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Articles related to Digital Arthropathy-Brachydactyly, Familial:
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Genes related to Digital Arthropathy-Brachydactyly, Familial (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:6
UniProtKB/Swiss-Prot genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:73
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Search
GEO
for disease gene expression data for Digital Arthropathy-Brachydactyly, Familial.
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