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Ontology Browser

Term:
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (DOID:9009139)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
cerebellar ataxia +     
neuropathy +     
3-methylglutaconic aciduria type 5  
agenesis of the corpus callosum with peripheral neuropathy  
autonomic peripheral neuropathy 
autosomal dominant cerebellar ataxia +   
autosomal recessive cerebellar ataxia +   
axonal neuropathy +   
Benign Cerebellar Ataxia with Thermoanalgesia 
brachial plexus neuropathy +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 
CAPOS Syndrome  
Cerebellar Ataxia and Ectodermal Dysplasia 
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA  
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME  
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. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cerebelloparenchymal Disorder II 
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
cranial nerve disease +   
diabetic neuropathy +   
episodic ataxia type 5  
episodic ataxia type 6  
erythromelalgia  
familial episodic pain syndrome +   
familial hemiplegic migraine 1  
Furukawa Takagi Nakao Syndrome 
Gillespie syndrome  
Gordon Holmes syndrome  
Harding Ataxia 
hereditary sensory neuropathy +   
Herrmann Syndrome 
inflammatory and toxic neuropathy +   
ischemic neuropathy 
ITM2B-related cerebral amyloid angiopathy 2  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
mononeuropathy +   
motor peripheral neuropathy +   
Myelocerebellar Disorder  
Myoclonus, Cerebellar Ataxia, and Deafness 
Neuhauser Eichner Opitz Syndrome 
neuritis +   
neuromuscular disease +   
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
sensory peripheral neuropathy  
short-rib thoracic dysplasia 9 with or without polydactyly  

Synonyms
Exact Synonyms: CANVAS
Primary IDs: OMIM:614575

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.