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

FXN ACTN1
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Friedreich ataxia
FXN
Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1



Friedreich ataxia
Autosomal dominant macrothrombocytopenia

Synonym(s):
- FA
- FRDA

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.