paroxysmal nonkinesigenic dyskinesia 2

Summary
Definition
A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.
Super Class
autosomal dominant disease dystonia
External Links
Disease Ontology
DOID:0090047
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UNP4 Lactosylceramide alpha-2,3-sialyltransferase

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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