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spinocerebellar ataxia type 6

Disease Summary
Associated Targets (34)
Tbio

24

Tchem

7

Tclin

2

Tdark

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.
Uniprot Description Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
Disease Ontology Description An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
Mondo Term and Equivalent IDs
MONDO:0008457:  spinocerebellar ataxia type 6
GARD:0010351: 
NCIT:C142838: 
Orphanet:98758: 
SCTID:715752006: 
UMLS:C0752124: