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Spinocerebellar ataxia type 7
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Carpenter syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 7
Carpenter syndrome

ATXN7
(UniProt - OMIM)
 MEGF8
(UniProt - OMIM)
RAB23
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATXN7
(0.75)
MEGF8


Citations in the biomedical literature:


Spinocerebellar ataxia type 7
ATXN7
Carpenter syndrome
MEGF8 RAB23



Spinocerebellar ataxia type 7
Carpenter syndrome

Synonym(s):
- Autosomal dominant spinocerebellar ataxia type 7
- Cerebellar syndrome - pigmentary maculopathy
- SCA7
Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.