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 31 - 40 of 55 in total
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9487 PIGL phosphatidylinositol glycan anchor biosynthesis class L
10715 CERS1 ceramide synthase 1
22901 ARSG arylsulfatase G
23236 PLCB1 phospholipase C beta 1
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase
27315 PGAP2 post-GPI attachment to proteins 2

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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