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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
EFO:0009071
GARD:0003363
MESH:C535694
OMIM:145600
UMLS:CN031421
MONDO:0007783
High level summary of knowledge for a disease, including descriptions and datasource references.