Details of Disease | DrugMAP

General Information of Disease (ID: DISFJ7OA)

Disease Name	Spinocerebellar ataxia type 12
Synonyms	spinocerebellar ataxia 12; spinocerebellar ataxia type 12; SCA12
Definition	Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DISFJ7OA: Spinocerebellar ataxia type 12
Disease Identifiers	MONDO ID MONDO_0011439 MESH ID C565790 UMLS CUI C1858501 OMIM ID 604326 MedGen ID 347653 Orphanet ID 98762 SNOMED CT ID 719208005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PPP2R2B	OTSFVC82	Strong	Autosomal dominant	[1]
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References

1	Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2. doi: 10.1038/70493.