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 1 - 10 of 75 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
34 ACADM acyl-CoA dehydrogenase medium chain
35 ACADS acyl-CoA dehydrogenase short chain
37 ACADVL acyl-CoA dehydrogenase very long chain
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
308 ANXA5 annexin A5
847 CAT catalase
952 CD38 CD38 molecule
1272 CNTN1 contactin 1
1298 COL9A2 collagen type IX alpha 2 chain

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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