Details of Disease | DrugMAP

General Information of Disease (ID: DISKF7FQ)

Disease Name	Spinocerebellar ataxia type 11
Synonyms	spinocerebellar ataxia 11; SCA11; spinocerebellar ataxia type 11
Definition	Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
Disease Hierarchy	DISQBYEM: Autosomal dominant cerebellar ataxia type III DISKF7FQ: Spinocerebellar ataxia type 11
Disease Identifiers	MONDO ID MONDO_0011464 MESH ID C565772 UMLS CUI C1858351 OMIM ID 604432 MedGen ID 346799 Orphanet ID 98767 SNOMED CT ID 719207000

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
TTBK2	OT90YSM5	Strong	Autosomal dominant	[1]
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References

1	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25.