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1 OMIM reference -
1 associated gene
4 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial digital arthropathy-brachydactyly
Autosomal dominant Charcot-Marie-Tooth disease type 2C

TRPV4 TRPV4


COMMON
GENES
TRPV4



Citations in the biomedical literature:


Familial digital arthropathy-brachydactyly
TRPV4
Autosomal dominant Charcot-Marie-Tooth disease type 2C



Familial digital arthropathy-brachydactyly
Autosomal dominant Charcot-Marie-Tooth disease type 2C

Synonym(s):
(no synonyms)

Synonym(s):
- CMT2C

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Familial digital arthropathy-brachydactyly

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Irregular length / shape of fingers
- Short hand / brachydactyly



Autosomal dominant Charcot-Marie-Tooth disease type 2C

(no data available)