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spinocerebellar ataxia type 5

Disease Summary
Associated Targets (34)
Tbio

24

Tchem

7

Tclin

2

Tdark

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.
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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.
Disease Ontology Description An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.
Mondo Term and Equivalent IDs
MONDO:0010848:  spinocerebellar ataxia type 5
GARD:0004953: 
Orphanet:98766: 
SCTID:719302009: 
UMLS:C0752123: