Spinocerebellar Ataxia 11 (SCA11)

Alias:
Spinocerebellar Ataxia Type 11
Sca11
Ataxia, Spinocerebellar, Type 11
Spinocerebellar Ataxia-11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia 1. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and dysphagia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
15
85
13

Medical Symptom

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

Gene & Mutation

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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
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IF
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