Episodic Kinesigenic Dyskinesia-1

Preferred Label : Episodic Kinesigenic Dyskinesia-1;

NCIt synonyms : Dystonia 10; EKD1; DYT10; PKD Dystonia; Paroxysmal Kinesigenic Dyskinesia;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.;

Details

Origin ID

C178413;

UMLS CUI

C4552000;

Automatic exact mappings (from CISMeF team)
- Paroxysmal kinesigenic dyskinesia [ICD-11 More detail]
- Paroxysmal kinesigenic dyskinesia (disorder) [SNOMED CT concept]
- proline rich transmembrane protein 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
- episodic kinesigenic dyskinesia 1 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- familial paroxysmal dystonia [MeSH concept]
- familial paroxysmal dystonia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic kinesigenic dyskinesia 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Episodic kinesigenic dyskinesia [OMIM phenotypic series]
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PRRT2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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