Ontology Browser

Term:
Charlevoix-Saguenay spastic ataxia (DOID:0050946)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 2  
ataxia with oculomotor apraxia type 3  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
autosomal recessive spinocerebellar ataxia 10  
autosomal recessive spinocerebellar ataxia 11  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 13  
autosomal recessive spinocerebellar ataxia 14  
autosomal recessive spinocerebellar ataxia 15  
autosomal recessive spinocerebellar ataxia 16  
autosomal recessive spinocerebellar ataxia 17  
autosomal recessive spinocerebellar ataxia 18  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
autosomal recessive spinocerebellar ataxia 20  
autosomal recessive spinocerebellar ataxia 21  
Autosomal Recessive Spinocerebellar Ataxia 22  
autosomal recessive spinocerebellar ataxia 25  
autosomal recessive spinocerebellar ataxia 26  
Autosomal Recessive Spinocerebellar Ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
Autosomal Recessive Spinocerebellar Ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)
Friedreich ataxia +   
mitochondrial DNA depletion syndrome 7  
primary coenzyme Q10 deficiency 4  
spastic ataxia 1  
spastic ataxia 2  
spastic ataxia 3  
spastic ataxia 4  
spastic ataxia 5  
spastic ataxia 7 
spastic ataxia 8  

Synonyms
Exact Synonyms: ARSACS ;   SACS ;   SPAX6 ;   Spastic Ataxia Charlevoix-Saguenay Type ;   Spastic ataxia 6, autosomal recessive ;   autosomal recessive spastic ataxia of Charlevoix-Saguenay ;   spastic ataxia of Charlevoix-Saguenay
Primary IDs: MESH:C536787
Alternate IDs: OMIM:270550 ;   RDO:0002476
Xrefs: GARD:4910
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24384335, https://www.ncbi.nlm.nih.gov/pubmed/26344561, https://www.omim.org/entry/270550

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