Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Preferred Label : Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;

Symbol : CANVAS;

CISMeF acronym : CANVAS;

Type : Phenotype, molecular basis known;

Description : Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by a repeat expansion AAGGG(n) in the replication factor C, subunit 1, gene (RFC1, 102579.0001);

Prefixed ID : #614575;

Details

Origin ID

614575;

UMLS CUI

C3281223;

Automatic exact mappings (from CISMeF team)
- Canvas [ICD-11 Extension code]
- RFC1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- CANVAS syndrome [MeSH Supplementary Concept]
- CANVAS syndrome [MedDRA Preferred Term]
- CANVAS syndrome [MeSH concept]
- Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome [NCIt concept]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [ORDO Disease]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [MedDRA LLT]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Replication factor C, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Cerebellar atrophy [HPO term]
- Cough [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hyporeflexia [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Limb ataxia [HPO term]
- Peripheral neuropathy [HPO term]
- Positive Romberg sign [HPO term]
- Postural instability [HPO term]
- Slowly progressive [HPO term]
- Vestibular areflexia [HPO term]
Not associated HPO term(s)
- Hearing abnormality [HPO term]
ORDO concept(s)
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CANVAS syndrome [MedDRA Preferred Term]
- CANVAS syndrome [MeSH Supplementary Concept]
- Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome [NCIt concept]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [MedDRA LLT]
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) [SNOMED CT concept]

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