Details of Disease | DrugMAP

General Information of Disease (ID: DIS93J3F)

Disease Name	Spinocerebellar ataxia type 42
Synonyms	spinocerebellar ataxia type 42; spinocerebellar ataxia 42; SCA42
Disease Hierarchy	DISQBYEM: Autosomal dominant cerebellar ataxia type III DIS93J3F: Spinocerebellar ataxia type 42
Disease Identifiers	MONDO ID MONDO_0014776 UMLS CUI C4225205 OMIM ID 616795 MedGen ID 902592 Orphanet ID 458803 SNOMED CT ID 1208513005

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
CACNA1G	TT729IR	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1G	DTHAQIM	Definitive	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
CACNA1G	OTGKBRE4	Definitive	Autosomal dominant	[2]
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References

1	Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19.
2	A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.