Details of Disease | DrugMAP

General Information of Disease (ID: DIS7TVX7)

Disease Name	Spinocerebellar ataxia type 19/22
Synonyms	spinocerebellar ataxia 19 and 22; spinocerebellar ataxia 22; SCA19; spinocerebellar ataxia 19; SCA19/22; spinocerebellar ataxia type 19
Definition	Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DIS7TVX7: Spinocerebellar ataxia type 19/22
Disease Identifiers	MONDO ID MONDO_0011819 MESH ID C537198 UMLS CUI C1846367 OMIM ID 607346 MedGen ID 339504 Orphanet ID 98772 SNOMED CT ID 719251009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCND3	TTPLQO0	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCND3	OTRPIH7J	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.