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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Ehlers-Danlos syndrome, cardiac valvular type

ACTN1 COL1A2
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGB3
ITGA2B
(0.55)
(0.52)
COL1A2
COL1A2



Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Ehlers-Danlos syndrome, cardiac valvular type
COL1A2



Autosomal dominant macrothrombocytopenia
Ehlers-Danlos syndrome, cardiac valvular type

Synonym(s):
(no synonyms)

Synonym(s):
- EDS, cardiac valvular type

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.