Episodic kinesigenic dyskinesia 1

Preferred Label : Episodic kinesigenic dyskinesia 1;

Symbol : EKD1;

CISMeF acronym : DYT10; EKD1; PKC; PKD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paroxysmal kinesigenic dyskinesia; Paroxysmal kinesigenic choreoathetosis; Dystonia, familial paroxysmal; DYT10; PKC; Dystonia 10; PKD;

Description : Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. - Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia See also EKD2 (611031), which maps to chromosome 16q13-q22.1.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, 614386.0001);

Prefixed ID : #128200;

Details

Origin ID

128200;

UMLS CUI

C4552000;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant polycystic kidney disease [ORDO Disease]
- PRKD1 wt Allele [NCIt concept]
- PRRT2 wt Allele [NCIt concept]
- Paroxysmal choreoathetosis (disorder) [SNOMED CT concept]
- Paroxysmal kinesigenic dyskinesia [ICD-11 More detail]
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal kinesigenic dyskinesia (disorder) [SNOMED CT concept]
- Protein Kinase C [NCIt concept]
- paroxysmal kinesigenic choreoathetosis [SNOMED Notion]
- proline rich transmembrane protein 2 [ORDO Gene]
- proline rich transmembrane protein 2 [HGNC gene]
- protein kinase C [MeSH Descriptor]
- protein kinase C [MeSH concept]
- protein kinase C activity [GO term]
- protein kinase D1 [ORDO Gene]
- protein serine/threonine kinase activity [GO term]
- symbol withdrawn DYT10 [HGNC gene]
Broader ORDO disease(s)
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Episodic Kinesigenic Dyskinesia-1 [NCIt concept]
- episodic kinesigenic dyskinesia 1 [DO Concept]
- familial paroxysmal dystonia [MeSH concept]
- familial paroxysmal dystonia [MeSH Supplementary Concept]
DO Cross reference
- episodic kinesigenic dyskinesia 1 [DO Concept]
Genes related to phenotype
- Proline-rich transmembrane protein 2 [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choreoathetosis, episodic [HPO term]
- Dystonia, episodic [HPO term]
- Incomplete penetrance [HPO term]
- Infantile seizures [HPO term]
- Orofacial dyskinesia [HPO term]
- Paroxysmal choreoathetosis [HPO term]
- Paroxysmal dystonia [HPO term]
- Seizure [HPO term]
- Seizures, afebrile [HPO term]
ORDO concept(s)
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic Kinesigenic Dyskinesia-1 [NCIt concept]
- Paroxysmal kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal kinesigenic dyskinesia (disorder) [SNOMED CT concept]
- episodic kinesigenic dyskinesia 1 [DO Concept]
- familial paroxysmal dystonia [MeSH concept]
- familial paroxysmal dystonia [MeSH Supplementary Concept]
- paroxysmal kinesigenic choreoathetosis [SNOMED Notion]

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