Details of Disease | DrugMAP

General Information of Disease (ID: DISQ76GV)

Disease Name	Episodic ataxia type 2
Synonyms	Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia; ataxia, familial, paroxysmal; Nystagmus-associated episodic ataxia; ataxia, episodic, with Nystagmus; Cerebellopathy, hereditary paroxysmal; CAPA; episodic ataxia with nystagmus; Acetazolamide-responsive episodic ataxia syndrome; episodic ataxia, type 2; EA2; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; APCA; cerebellar ataxia, paroxysmal, Acetazolamide-responsive; ataxia, familial paroxysmal; episodic ataxia, Nystagmus-associated; familial paroxysmal ataxia; CACNA1A hereditary episodic ataxia; hereditary episodic ataxia caused by mutation in CACNA1A; episodic ataxia type 2
Definition	Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
Disease Hierarchy	DISQNP59: CACNA1A-related complex neurodevelopmental disorder DISC4ZQW: Hereditary episodic ataxia DISQ76GV: Episodic ataxia type 2
Disease Identifiers	MONDO ID MONDO_0007163 MESH ID C535506 UMLS CUI C1720416 OMIM ID 108500 MedGen ID 314039 Orphanet ID 97 SNOMED CT ID 420932006

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
KCNA1	TTS3DIK	Limited	Genetic Variation	[1]
ATP1A2	TT5B6HJ	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	DTYKGPB	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRKCSH	DE073GW	Strong	Biomarker	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RNF138	OTPU0CO4	Strong	Altered Expression	[5]
CACNA1A	OTY08SIX	Definitive	Autosomal dominant	[3]
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References

1	Recent advances in the genetics of recurrent vertigo and vestibulopathy.Curr Opin Neurol. 2008 Feb;21(1):3-7. doi: 10.1097/WCO.0b013e3282f41ca0.
2	Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.Headache. 2006 Jul-Aug;46(7):1136-41. doi: 10.1111/j.1526-4610.2006.00504.x.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4	A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.Eur J Hum Genet. 1996;4(6):321-8.
5	Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca(v)2.1 (P/Q-Type) Calcium Channels.J Neurosci. 2017 Mar 1;37(9):2485-2503. doi: 10.1523/JNEUROSCI.3070-16.2017. Epub 2017 Feb 6.