Spinocerebellar Ataxia 6 (SCA6)

Alias:
Spinocerebellar Ataxia Type 6
Sca6
Ataxia, Spinocerebellar, Type 6
Type 6 Spinocerebellar Ataxia
Spinocerebellar Ataxia-6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 6, also known as spinocerebellar ataxia type 6, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 2, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 6 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Integrin Pathway. The drugs Glutamic acid and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are nystagmus and gait ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
1-9/100000
31
327
83

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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