Spinocerebellar Ataxia 17 (SCA17)

Alias:
Spinocerebellar Ataxia Type 17
Sca17
Huntington Disease-Like 4
Hdl4
Cerebelloparenchymal Disorder Ii
Olivopontocerebellar Atrophy V
Ataxia, Spinocerebellar, Type 17
Opca5
Cpd2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to hereditary late-onset parkinson disease and dystonia, and has symptoms including myoclonus, seizures and bradykinesia. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein), and among its related pathways/superpathways are Akt Signaling and Maturation of protein E. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are ataxia and gait disturbance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/1000000
19
227
59

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

Name
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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