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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial digital arthropathy-brachydactyly
Syndromic multisystem autoimmune disease due to Itch deficiency

TRPV4 ITCH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRPV4
(0.82)
ITCH



Citations in the biomedical literature:


Familial digital arthropathy-brachydactyly
TRPV4
Syndromic multisystem autoimmune disease due to Itch deficiency
ITCH



Familial digital arthropathy-brachydactyly
Syndromic multisystem autoimmune disease due to Itch deficiency

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
(no data available)

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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



Syndromic multisystem autoimmune disease due to Itch deficiency

(no data available)