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episodic kinesigenic dyskinesia 1
Summary
- Synonym
-
- Paroxysmal kinesigenic choreoathetosis
- Definition
- A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090053
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5313 | PKLR | pyruvate kinase L/R | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6401 | SELE | selectin E | |
| 8394 | PIP5K1A | phosphatidylinositol-4-phosphate 5-kinase type 1 alpha | |
| 9514 | GAL3ST1 | galactose-3-O-sulfotransferase 1 | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 342372 | PKD1L3 | polycystin 1 like 3, transient receptor potential channel interacting |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78382 | CMP-sialic acid transporter | |
| P98161 | Polycystin-1 | |
| Q13563 | Polycystin-2 | |
| Q7Z443 | Polycystin-1-like protein 3 | |
| Q99999 | Galactosylceramide sulfotransferase | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
