Details of Disease | DrugMAP

General Information of Disease (ID: DIS9P3RQ)

Disease Name	Episodic ataxia type 6
Synonyms	EA6; episodic ataxia, type 6; hereditary episodic ataxia caused by mutation in SLC1A3; SLC1A3 hereditary episodic ataxia; episodic ataxia type 6
Definition	Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Disease Hierarchy	DISC4ZQW: Hereditary episodic ataxia DIS1BLHT: Inborn disorder of amino acid transport DIS9P3RQ: Episodic ataxia type 6
Disease Identifiers	MONDO ID MONDO_0012982 MESH ID C567207 UMLS CUI C2675211 OMIM ID 612656 MedGen ID 390739 Orphanet ID 209967 SNOMED CT ID 718753002

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
SLC1A3	TT8WRDA	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC1A3	DT9U216	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC1A3	OTILR60R	Definitive	Autosomal dominant	[2]
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References

1	Late-onset episodic ataxia associated with SLC1A3 mutation.J Hum Genet. 2017 Mar;62(3):443-446. doi: 10.1038/jhg.2016.137. Epub 2016 Nov 10.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.