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 11 - 20 of 75 in total
Gene ID Gene Symbol Description Source
1376 CPT2 carnitine palmitoyltransferase 2
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1577 CYP3A5 cytochrome P450 family 3 subfamily A member 5
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2218 FKTN fukutin

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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