Details of Disease | DrugMAP

General Information of Disease (ID: DISJDFDJ)

Disease Name	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Synonyms	SCA42ND; spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Disease Hierarchy	DIS93J3F: Spinocerebellar ataxia type 42 DISJDFDJ: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Disease Identifiers	MONDO ID MONDO_0060758 UMLS CUI C4748120 OMIM ID 618087 MedGen ID 1648308

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]
------------------------------------------------------------------------------------

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]
------------------------------------------------------------------------------------

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]
------------------------------------------------------------------------------------

References

1	De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain. 2018 Jul 1;141(7):1998-2013. doi: 10.1093/brain/awy145.
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.