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Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ACTN1
(UniProt - OMIM)
 ISG15
(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)
ISG15


Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Autosomal dominant macrothrombocytopenia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.