Details of Disease | DrugMAP

General Information of Disease (ID: DISPZONT)

Disease Name	Spinocerebellar ataxia, autosomal recessive 24
Synonyms	spinocerebellar ataxia, autosomal recessive 24; UBA5 autosomal dominant cerebellar ataxia; spinocerebellar ataxia, autosomal recessive type 24; spinocerebellar ataxia, autosomal recessive 24; SCAR24; autosomal dominant cerebellar ataxia caused by mutation in UBA5; SCAR24
Definition	Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.
Disease Hierarchy	DISYMHUK: Spinocerebellar ataxia DISPZONT: Spinocerebellar ataxia, autosomal recessive 24
Disease Identifiers	MONDO ID MONDO_0014934 UMLS CUI C4310699 OMIM ID 617133 MedGen ID 934666

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
UBA5	OTJ322WE	Limited	Autosomal recessive	[1]
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References

1	UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. PLoS One. 2016 Feb 12;11(2):e0149039. doi: 10.1371/journal.pone.0149039. eCollection 2016.