Details of Disease | DrugMAP

General Information of Disease (ID: DISO90FU)

Disease Name	Spinocerebellar ataxia type 41
Synonyms	spinocerebellar ataxia 41; spinocerebellar ataxia type 41; SCA41
Definition	Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
Disease Hierarchy	DISQBYEM: Autosomal dominant cerebellar ataxia type III DISO90FU: Spinocerebellar ataxia type 41
Disease Identifiers	MONDO ID MONDO_0014626 UMLS CUI C4225158 OMIM ID 616410 MedGen ID 908281 Orphanet ID 458798 SNOMED CT ID 1208512000

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
TRPC3	TTNVC34	Supportive	Autosomal dominant	[1]
TRPC3	TTNVC34	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPC3	OTNR61OD	Supportive	Autosomal dominant	[1]
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References

1	Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?. Mov Disord. 2015 Feb;30(2):284-6. doi: 10.1002/mds.26096. Epub 2014 Dec 5.