Episodic Ataxia Type 2

Preferred Label : Episodic Ataxia Type 2;

NCIt synonyms : EA2;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is characterized by paroxysms of vertigo, visual disturbance, dysarthria, and ataxia.;

Details

Origin ID

C202603;

UMLS CUI

C1720416;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic Ataxia, Type 2 [MeSH Supplementary Concept]
- Episodic Ataxia, Type 2 [MeSH concept]
- Episodic ataxia type 2 (disorder) [SNOMED CT concept]
- Episodic ataxia type 2 - CACNA1A mutation [ICD-11 More detail]
- Episodic ataxia, type 2 [OMIM Phenotype]
- Familial paroxysmal ataxia [ORDO Disease]
- episodic ataxia type 2 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CACNA1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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