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Autosomal dominant spastic ataxia 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant spastic ataxia 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

VAMP1
(UniProt - OMIM)
 BCAP31
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VAMP1
(0.52)
BCAP31


Citations in the biomedical literature:


Autosomal dominant spastic ataxia 1
VAMP1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
BCAP31



Autosomal dominant spastic ataxia 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Synonym(s):
- SPAX1
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: childhood
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:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.