familial periodic paralysis

Summary
Definition
A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
Super Class
metal metabolism disorder
External Links
Disease Ontology
DOID:1029
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 21 - 30 of 75 in total
Gene ID Gene Symbol Description Source
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2539 G6PD glucose-6-phosphate dehydrogenase
2548 GAA alpha glucosidase
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
2683 B4GALT1 beta-1,4-galactosyltransferase 1
2992 GYG1 glycogenin 1
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3939 LDHA lactate dehydrogenase A

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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