{"orpha":423,"name":"Malignant hyperthermia of anesthesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperthermia of anesthesia"],"definition":"Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423/","orphanet_url":"https://www.orpha.net/en/disease/detail/423","names":{"fr":{"name":"Hyperthermie maligne de l'anesthésie","definition":"Maladie pharmacogénétique des muscles squelettiques qui se manifeste par une réponse hypermétabolique à des gaz anesthésiques volatils puissants tels que l'halothane, le sévoflurane, le desflurane et la succinylcholine, un relaxant musculaire dépolarisant, et rarement, à un stress tel que l'exercice intense et la chaleur."},"de":{"name":"Maligne Hyperthermie","synonyms":["Hyperthermie bei Allgemeinnarkose"],"definition":"Die maligne Hyperthermie (MH) ist eine pharmakogenetische Erkrankung der Skelettmuskulatur, die sich als hypermetabolische Reaktion auf starke flüchtige Anästhesiegase wie Halothan, Sevofluran, Desfluran und das depolarisierende Muskelrelaxans Succinylcholin und selten auf Stress wie intensive körperliche Betätigung und Hitze äußert."},"es":{"name":"Hipertermia maligna de la anestesia","synonyms":["Hiperpirexia maligna","Hipertermia de la anestesia"],"definition":"Es un trastorno farmacogenético del músculo esquelético que se presenta como una respuesta hipermetabólica a los gases anestésicos volátiles potentes tales como el halotano, sevoflurano, desflurano y el relajante muscular despolarizante succinilcolina y, en raras ocasiones, en respuesta a situaciones de estrés como el ejercicio intenso y el calor."},"it":{"name":"Ipertermia maligna","synonyms":["Iperpiressia maligna","Ipertermia da anestesia"]},"nl":{"name":"Maligne hyperthermie door anesthesie","synonyms":["Hyperthermie door anesthesie"],"definition":"Maligne hyperthermie (MH) is een farmacogenetische stoornis van skeletspieren die zich presenteert als een hypermetabole respons op potente volatiele anesthetische gassen zoals halothaan, sevofluraan, desfluraan en op het depolariserende spierverslappende middel succinylcholine, en zelden op stress zoals hevige fysieke inspanning en hitte."},"pt":{"name":"Hipertermia maligna da anestesia","synonyms":["Hiperpirexia maligna","Hipertermia da anestesia","Miopatia farmacogenética da anestesia"]},"pl":{"name":"Hipertermia złośliwa przy znieczuleniu","synonyms":["Hipertermia przy znieczuleniu"]},"cs":{"name":"Maligní hypertermie","synonyms":["Hypertermie vyvolaná anestezií","Maligní hyperpyrexie"]},"uk":{"name":"Злоякісна гіпертермія при анестезії","synonyms":["Гіпертермія анестезії"],"definition":"Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."},"zh":{"name":"麻醉诱发恶性高热","synonyms":["麻醉性体温过高"]},"tr":{"name":"Anestezinin habis hipertermisi","synonyms":["Anestezi hipertermisi"]}},"xrefs":[{"source":"OMIM","code":"145600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"154275","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"154276","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600467","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601888","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"T88.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8C78","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1397199211"},{"source":"MONDO","code":"0018493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024591","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6964","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]},{"orpha":466658,"name":"Rare disease with malignant hyperthermia","classifications":[181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301325[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]},{"symbol":"CACNA1S","name":"calcium voltage-gated channel subunit alpha1 S","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"9175745[PMID]_9199552[PMID]_20301325[PMID]","hgnc":"1397","ensembl":"ENSG00000081248","omim":"114208","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"26238698[PMID]_13885389[PMID]_9508059[PMID]_7951247[PMID]_7887423[PMID]_9175745[PMID]_9175745[PMID]_2121248738[PMID]_6072352[PMID]","terms":[{"hpo":"HP:0031320","label":"Cardiomyocyte mitochondrial proliferation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012416","label":"Hypercapnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000005","label":"Abnormality of masseter muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008942","label":"Acute rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009045","label":"Exercise-induced rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001722","label":"High-output congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008978","label":"Necrotizing myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006682","label":"Ventricular extrasystoles","frequency":"Occasional (29-5%)","criteria":null}]}}