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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Hereditary cerebral cavernous malformation
Familial digital arthropathy-brachydactyly

CCM2 TRPV4
KRIT1
PDCD10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRIT1
(0.49)
TRPV4



Citations in the biomedical literature:


Hereditary cerebral cavernous malformation
CCM2 KRIT1 PDCD10
Familial digital arthropathy-brachydactyly
TRPV4



Hereditary cerebral cavernous malformation
Familial digital arthropathy-brachydactyly

Synonym(s):
- Familial brain cavernous angioma
- Familial brain cavernous hemangioma
- Familial cerebral cavernoma
- Familial cerebral cavernous malformation
- Hereditary brain cavernous angioma
- Hereditary brain cavernous hemangioma
- Hereditary cerebral cavernoma

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
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



Hereditary cerebral cavernous malformation

(no data available)