Details of Disease | DrugMAP

General Information of Disease (ID: DISPAP4I)

Disease Name	Spinocerebellar ataxia 46
Synonyms	SCA46; spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy; spinocerebellar ataxia 46
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DISPAP4I: Spinocerebellar ataxia 46
Disease Identifiers	MONDO ID MONDO_0033481 UMLS CUI C4540404 OMIM ID 617770 MedGen ID 1624251 Orphanet ID 589522 SNOMED CT ID 1279839002

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
PLD3	OTL07SP2	Supportive	Autosomal dominant	[1]
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References

1	Hereditary ataxias and paraparesias: clinical and genetic update. Curr Opin Neurol. 2018 Aug;31(4):462-471. doi: 10.1097/WCO.0000000000000585.