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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Bernard-Soulier syndrome
Hereditary angioedema type 3

GP1BA F12
GP1BB
GP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GP1BA
(0.85)
F12



Citations in the biomedical literature:


Bernard-Soulier syndrome
GP1BA GP1BB GP9
Hereditary angioedema type 3
F12



Bernard-Soulier syndrome
Hereditary angioedema type 3

Synonym(s):
- Giant platelet syndrome
- Hemorrhagiparous thrombocytic dystrophy

Synonym(s):
- HAE 3
- HAE-III
- Hereditary angioneurotic edema type 3
- Inherited estrogen-associated angioedema
- Inherited estrogen-associated angioneurotic edema
- Inherited estrogen-dependent angioedema
- Inherited estrogen-dependent angioneurotic edema

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare allergic disease
- Rare genetic 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):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D001606
External references:
1 OMIM reference -
1 MeSH reference: D056828

No signs/symptoms info available.