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Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial adenomatous polyposis due to 5q22.2 microdeletion
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Familial adenomatous polyposis due to 5q22.2 microdeletion

ACTN1
(UniProt - OMIM)
 APC
(UniProt - OMIM)
ITGA2B
(UniProt - OMIM)
ITGB3
(UniProt - OMIM)
TUBB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTN1
(0.63)
APC


Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Familial adenomatous polyposis due to 5q22.2 microdeletion
APC



Autosomal dominant macrothrombocytopenia
Familial adenomatous polyposis due to 5q22.2 microdeletion

Synonym(s):
(no synonyms)

Synonym(s):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.