Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy

Preferred Label : Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy;

Symbol : PNKD3;

CISMeF acronym : GEPD; PNKD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Generalized epilepsy and paroxysmal dyskinesia; GEPD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium-activated large conductance potassium channel subfamily M, alpha member 1 gene (KCNMA1, 600150.0001);

Prefixed ID : #609446;

Details

Origin ID

609446;

UMLS CUI

C5574945;

Automatic exact mappings (from CISMeF team)
- Generalised epilepsy - paroxysmal dyskinesia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) [SNOMED CT concept]
- Generalized epilepsy-paroxysmal dyskinesia syndrome [ORDO Disease]
- generalized epilepsy and paroxysmal dyskinesia [Disease (Nov.)]
- generalized epilepsy and paroxysmal dyskinesia [MeSH concept]
- generalized epilepsy and paroxysmal dyskinesia [MeSH Supplementary Concept]
Genes related to phenotype
- Potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Dyskinesia [HPO term]
- EEG with spike-wave complexes (>3.5 Hz) [HPO term]
- Generalized hypotonia [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Paroxysmal dyskinesia [HPO term]
ORDO concept(s)
- Generalized epilepsy-paroxysmal dyskinesia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized epilepsy-paroxysmal dyskinesia syndrome [ORDO Disease]
- generalized epilepsy and paroxysmal dyskinesia [MeSH Supplementary Concept]
- generalized epilepsy and paroxysmal dyskinesia [MeSH concept]

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