Paroxysmal nonkinesigenic dyskinesia 1

Preferred Label : Paroxysmal nonkinesigenic dyskinesia 1;

Symbol : PNKD1;

CISMeF acronym : DYT8; FPD1; PDC; PNKD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PDC; Dystonia 8; Choreoathetosis, familial paroxysmal; Paroxysmal dystonic choreoathetosis; Choreoathetosis, nonkinesigenic; Mount-reback syndrome; FPD1; DYT8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PNKD metallo-beta-lactamase domain-containing protein gene (PNKD, 609023.0001);

Prefixed ID : #118800;

Détails

Origin ID

118800;

UMLS CUI

C4551506;

Automatic exact mappings (from CISMeF team)
- PDC Gene [NCIt concept]
- Phosducin [NCIt concept]
- Plasmacytoid Dendritic Cell [NCIt concept]
- contrast media [MeSH Descriptor]
- unconsciousness [MeSH Descriptor]
Broader ORDO disease(s)
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Mount-Reback syndrome [MedDRA Preferred Term]
- Paroxysmal choreoathetosis (disorder) [SNOMED CT concept]
- Paroxysmal nonkinesigenic dyskinesia [MeSH concept]
- paroxysmal nonkinesigenic dyskinesia [MeSH Supplementary Concept]
- paroxysmal nonkinesigenic dyskinesia 1 [DO Concept]
DO Cross reference
- paroxysmal nonkinesigenic dyskinesia 1 [DO Concept]
Genes related to phenotype
- Pnkd metallo-beta-lactamase domain-containing protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Choreoathetosis, episodic [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia, episodic [HPO term]
- Facial grimacing [HPO term]
- Infantile onset [HPO term]
- Involuntary movements of extremities, neck, trunk, and/or face [HPO term]
- Myokymia [HPO term]
- Paroxysmal choreoathetosis [HPO term]
- Paroxysmal dystonia [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- PNKD metallo-beta-lactamase domain containing [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mount-Reback syndrome [MedDRA Preferred Term]
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal nonkinesigenic dyskinesia [MeSH concept]
- Paroxysmal nonkinesigenic dyskinesia (disorder) [SNOMED CT concept]
- paroxysmal choreoathetosis [SNOMED Notion]
- paroxysmal nonkinesigenic dyskinesia [MeSH Supplementary Concept]
- paroxysmal nonkinesigenic dyskinesia 1 [DO Concept]
Validated automatic mappings to NTBT
- Paroxysmal dyskinesia [ORDO Disease]
- Paroxysmal non-kinesigenic dyskinesia [ORDO Disease]
- Paroxysmal nonkinesigenic dyskinesia (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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