Spinocerebellar Ataxia 42 (SCA42)

Alias:
Spinocerebellar Ataxia Type 42
Sca42
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 42, also known as spinocerebellar ataxia type 42, is related to spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 42 is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and abnormal cerebellum morphology
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
1
11
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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