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paroxysmal nonkinesigenic dyskinesia 1
Summary
- Definition
- 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.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090049
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08571 | Monocyte differentiation antigen CD14 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q16851 | UTP--glucose-1-phosphate uridylyltransferase | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
