blepharospasm

Summary
Definition
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
Super Class
focal dystonia
External Links
Disease Ontology
DOID:529
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 21 - 30 of 55 in total
Gene ID Gene Symbol Description Source
5538 PPT1 palmitoyl-protein thioesterase 1
5621 PRNP prion protein (Kanno blood group)
5660 PSAP prosaposin
6309 SC5D sterol-C5-desaturase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6392 SDHD succinate dehydrogenase complex subunit D
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
6900 CNTN2 contactin 2
7957 EPM2A EPM2A glucan phosphatase, laforin
8398 PLA2G6 phospholipase A2 group VI

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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