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
Displaying entries 1 - 10 of 18 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024