Details of Disease | DrugMAP

General Information of Disease (ID: DISKVS6J)

Disease Name	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Synonyms	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; CANVAS; CABV syndrome; cerebellar ataxia with bilateral vestibulopathy syndrome
Disease Hierarchy	DISUEW2W: Hereditary otorhinolaryngologic disease DISGMOMI: Autosomal recessive syndromic cerebellar ataxia DISKVS6J: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Disease Identifiers	MONDO ID MONDO_0044720 MESH ID C000726747 UMLS CUI C3281223 OMIM ID 614575 MedGen ID 482853 Orphanet ID 504476 SNOMED CT ID 1236804009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RFC1	OT3L5PK3	Strong	Autosomal recessive	[1]
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References

1	Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.