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malignant hyperthermia, susceptibility to, 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.
Uniprot Description Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
Mondo Term and Equivalent IDs
MONDO:0007783:  malignant hyperthermia, susceptibility to, 1
EFO:0009071: 
GARD:0003363: 
MESH:C535694: 
UMLS:CN031421: