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 31 - 40 of 75 in total
Gene ID Gene Symbol Description Source
4534 MTM1 myotubularin 1
4684 NCAM1 neural cell adhesion molecule 1
5224 PGAM2 phosphoglycerate mutase 2
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 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