Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS)

Alias:
Canvas
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome
Ataxia, Cerebellar, Neuropathy, and Vestibular Areflexia Syndrome
Cerebellar Ataxia with Bilateral Vestibulopathy Syndrome
Cabv Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome, also known as canvas, is related to aceruloplasminemia and neuropathy, and has symptoms including cerebellar ataxia, gait ataxia and imbalance. An important gene associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome is RFC1 (Replication Factor C Subunit 1), and among its related pathways/superpathways is Assembly of the pre-replicative complex. The drugs Fondaparinux and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are dysarthria and delayed speech and language development
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
2
8
6

Medical Symptom

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Description
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No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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