Autosomal Recessive Cerebellar Ataxia (ARCA)

Alias:
Arca
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Cerebellar Ataxia, also known as arca, is related to spinocerebellar ataxia, autosomal recessive 8 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10), and among its related pathways/superpathways are Homology Directed Repair and Regulation of TP53 Activity. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Increased shRNA abundance (Z-score > 2)
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
75
837
6

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

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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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