Autosomal Dominant Cerebellar Ataxia (ADCA)

Alias:
Spinocerebellar Ataxia
Autosomal Dominant Spinocerebellar Ataxia
Ataxia, Spinocerebellar
Adca
Spinocerebellar Ataxias
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia, autosomal recessive 4, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Akt Signaling and MAPK signaling pathway. The drugs TA 0910 and Nootropic Agents have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and spinal cord, and related phenotypes are nervous system and behavior/neurological
Related ID:
MESH:D020754
ICD11:600993818

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-5/10000
132
1361
8

Medical Symptom

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Categorization
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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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
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IF
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