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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Machado-Joseph disease type 3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ATXN3 CREBBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATXN3
(0.78)
CREBBP



Citations in the biomedical literature:


Machado-Joseph disease type 3
ATXN3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Machado-Joseph disease type 3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Synonym(s):
- SCA3, Machado type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.