Details of Disease | DrugMAP

General Information of Disease (ID: DISXQKJA)

Disease Name	Spinocerebellar ataxia type 13
Synonyms	autosomal dominant cerebellar ataxia with intellectual disability; cerebellar ataxia, autosomal dominant with intellectual disability; spinocerebellar ataxia 13; autosomal dominant cerebellar ataxia with mental retardation; cerebellar ataxia, autosomal dominant with mental retardation; SCA13; spinocerebellar ataxia type 13
Definition	Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DISXQKJA: Spinocerebellar ataxia type 13
Disease Identifiers	MONDO ID MONDO_0011529 MESH ID C537195 UMLS CUI C1854488 OMIM ID 605259 MedGen ID 344297 Orphanet ID 98768 SNOMED CT ID 719209002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNC3	TTALSY9	Limited	Genetic Variation	[1]
KCNC3	TTALSY9	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNC3	OT811KOM	Strong	Autosomal dominant	[2]
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References

1	C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.Cerebellum. 2018 Oct;17(5):692-697. doi: 10.1007/s12311-018-0950-5.
2	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.