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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Spinocerebellar ataxia type 6
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

CACNA1A LTBP4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1A
(0.68)
LTBP4



Citations in the biomedical literature:


Spinocerebellar ataxia type 6
CACNA1A
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
LTBP4



Spinocerebellar ataxia type 6
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Synonym(s):
- SCA6

Synonym(s):
- Urban-Rifkin-Davis syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic 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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.