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 1 - 10 of 55 in total
Gene ID Gene Symbol Description Source
275 AMT aminomethyltransferase
427 ASAH1 N-acylsphingosine amidohydrolase 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
1203 CLN5 CLN5 intracellular trafficking protein
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
1737 DLAT dihydrolipoamide S-acetyltransferase
2629 GBA1 glucosylceramidase beta 1
2639 GCDH glutaryl-CoA dehydrogenase
2653 GCSH glycine cleavage system protein H

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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