Details of Disease | DrugMAP

General Information of Disease (ID: DISLCZN8)

Disease Name	Spastic ataxia 3
Synonyms	autosomal recessive spastic ataxia with leukoencephalopathy; spastic ataxia 3, autosomal recessive; autosomal recessive spastic ataxia type 3; autosomal recessive spastic ataxia caused by mutation in MARS2; SPAX3; MARS2 autosomal recessive spastic ataxia; spastic ataxia type 3; ARSAL
Definition	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.
Disease Hierarchy	DIS6VTRF: Autosomal recessive spastic ataxia DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISLCZN8: Spastic ataxia 3
Disease Identifiers	MONDO ID MONDO_0012664 MESH ID C566956 UMLS CUI C1969645 OMIM ID 611390 MedGen ID 370715 Orphanet ID 314603 SNOMED CT ID 784343003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS2	DEEH5Y9	Limited	Biomarker	[1]
MARS2	DEEH5Y9	Moderate	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MARS2	OTZDVGVJ	Moderate	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.