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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Friedreich ataxia

ACTN1 FXN
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTN1
(0.63)
FXN



Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Friedreich ataxia
FXN



Autosomal dominant macrothrombocytopenia
Friedreich ataxia

Synonym(s):
(no synonyms)

Synonym(s):
- FA
- FRDA

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

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: 1-9 / 100 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D005621

No signs/symptoms info available.