malignant hyperthermia

Summary

DOID:8545 - malignant hyperthermia

Disease Ontology Definition:A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).

Synonyms: anesthesia related hyperthermia, malignant hyperpyrexia due to anesthesia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ryr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018493 - malignant hyperthermia of anesthesia

MONDO:0018493 - malignant hyperthermia of anesthesia

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), genetic disease (is_a), muscle tissue disease (is_a)