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MCID: DGT005
MIFTS: 24
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Digital Arthropathy-Brachydactyly, Familial
Categories:
Genetic diseases, Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Digital Arthropathy-Brachydactyly, Familial:
Characteristics:Orphanet epidemiological data:59
familial digital arthropathy-brachydactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in first decade of life changes more marked in hands than feet HPO:32
digital arthropathy-brachydactyly, familial:
Onset and clinical course juvenile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
34
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OMIM
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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 bone, and related phenotypes are brachydactyly and osteoarthritis of the small joints of the hand 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. |
Diseases related to Digital Arthropathy-Brachydactyly, Familial via text searches within MalaCards or GeneCards Suite gene sharing:(show all 20)
Graphical network of the top 20 diseases related to Digital Arthropathy-Brachydactyly, Familial:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:606835Human phenotypes related to Digital Arthropathy-Brachydactyly, Familial:59 32 (show all 11)
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Cochrane evidence based reviews: hand deformities |
MalaCards organs/tissues related to Digital Arthropathy-Brachydactyly, Familial:41
Bone
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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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UniProtKB/Swiss-Prot genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:75
ClinVar genetic disease variations for Digital Arthropathy-Brachydactyly, Familial:6
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Search
GEO
for disease gene expression data for Digital Arthropathy-Brachydactyly, Familial.
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