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;
Origin ID : 614575;
UMLS CUI : C3281223;
- Automatic exact mappings (from CISMeF team)
- Canvas [ICD-11 Extension code]
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)