paroxysmal nonkinesigenic dyskinesia 1
Information
- Disease name
- paroxysmal nonkinesigenic dyskinesia 1
- Disease ID
- DOID:0090049
- Description
- "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35." [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, url:https\://www.ncbi.nlm.nih.gov/pubmed/28090678]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:543
- Cross Reference ID (Disease Ontology)
- ICD10CM:G24.8
- Cross Reference ID (Disease Ontology)
- MIM:118800
- Cross Reference ID (Disease Ontology)
- ORDO:98810