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Familial digital arthropathy-brachydactyly
1 OMIM reference -
1 associated gene
11 connected diseases
4 signs/symptoms
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Syndromic multisystem autoimmune disease due to Itch deficiency
Severe combined immunodeficiency due to LCK deficiency
Catecholaminergic polymorphic ventricular tachycardia
Hereditary cerebral cavernous malformation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Irregular length / shape of fingers
- Short hand / brachydactyly