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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 |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel |
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 |
