{"Name":"Malignant hyperthermia of anesthesia","DiseaseID__c":"GARD:0006964","id":6964,"encodedName":"malignant-hyperthermia-of-anesthesia","IsDeleted":false,"Disease_Name_Full__c":"Malignant hyperthermia of anesthesia","Xref_IDs__c":"405501007; C0024591; C84869; D008305; DOID:8545; MEDGEN:9867; MONDO:0018493; OMIM:145600; ORPHA:423","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018493","Disease_Description__c":"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.","GARD_Name__c":"Malignant hyperthermia of anesthesia","GARD_Synonym__c":"anaesthesia related hyperthermia; anesthesia related hyperthermia; anesthesic-triggered malignant hyperthermia; hyperthermia of anaesthesia; hyperthermia of anesthesia; malignant hyperpyrexia; malignant hyperpyrexia caused by anesthesia; malignant hyperpyrexia caused by anesthetic; malignant hyperpyrexia due to anaesthesia; malignant hyperpyrexia due to anesthesia; malignant hyperthermia; malignant hyperthermia caused by anesthesia; malignant hyperthermia caused by anesthetic; malignant hyperthermia syndrome; malignant hyperthermia with anaesthesia; malignant hyperthermia with anesthesia","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Malignant hyperthermia (MH) of anesthesia is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). People who are at increased risk for this reaction are said to have MH susceptibility. Susceptibility to MH of anesthesia may be caused by genetic changes in any of several genes and is inherited in an autosomal dominant manner. People with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have MH of anesthesia susceptibility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:423","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018493","ORPHANET_ID__c":"ORPHA:423","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertermia maligna de la anestesia","Spanish_Description_Source__c":"ORPHA:423","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"hipertermia maligna de la anestesia","Spanish_GARD_Synonym__c":"hiperpirexia maligna; hipertermia de la anestesia","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Malignant hyperthermia (MH) of anesthesia is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). People who are at increased risk for this reaction are said to have MH susceptibility. Susceptibility to MH of anesthesia may be caused by genetic changes in any of several genes and is inherited in an autosomal dominant manner. People with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have MH of anesthesia susceptibility.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"anaesthesia related hyperthermia; anesthesia related hyperthermia; anesthesic-triggered malignant hyperthermia; hyperthermia of anaesthesia; hyperthermia of anesthesia; malignant hyperpyrexia; malignant hyperpyrexia caused by anesthesia; malignant hyperpyrexia caused by anesthetic; malignant hyperpyrexia due to anaesthesia; malignant hyperpyrexia due to anesthesia; malignant hyperthermia; malignant hyperthermia caused by anesthesia; malignant hyperthermia caused by anesthetic; malignant hyperthermia syndrome; malignant hyperthermia with anaesthesia; malignant hyperthermia with anesthesia","Name":"Malignant hyperthermia of anesthesia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Malignant Hyperthermia Association of the United States","Website__c":"https://www.mhaus.org/"},{"Account_Name__c":"RYR-1 Foundation","Website__c":"https://www.ryr1.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:423"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006964","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1146","Source__c":"Gene Review","Xref__c":"NBK1146"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8545","Source__c":"MONDO:0018493","Xref__c":"DOID:8545"},{"URL__c":"https://www.orpha.net/en/disease/detail/423","Source__c":"C0024591; MONDO:0018493; ORPHA:423","Xref__c":"ORPHA:423"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9867","Source__c":"C0024591","Xref__c":"MEDGEN:9867"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008305","Source__c":"C0024591; MONDO:0018493","Xref__c":"D008305"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024591","Source__c":"C0024591","Xref__c":"C0024591"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84869","Source__c":"MONDO:0018493","Xref__c":"C84869"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=405501007","Source__c":"MONDO:0018493","Xref__c":"405501007"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=213026003","Source__c":"C0024591","Xref__c":"213026003"},{"URL__c":"https://www.omim.org/entry/145600","Source__c":"ORPHA:423","Xref__c":"OMIM:145600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018493","Source__c":"GARD:0006964","Xref__c":"MONDO:0018493"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034733","Source__c":"C0024591","Xref__c":"HP:0034733"},{"URL__c":"https://medlineplus.gov/genetics/condition/malignant-hyperthermia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RYR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ryr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002905","HPO_Synonym__c":"High blood phosphate levels","HPO_Name__c":"Hyperphosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004755","HPO_Synonym__c":"Supraventricular tachyarrhythmia; SVT","HPO_Name__c":"Supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004756","HPO_Name__c":"Ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally elevated blood carbon dioxide (CO2) level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012416","HPO_Synonym__c":"High blood carbon dioxide level; Hypercarbia","HPO_Name__c":"Hypercapnia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006682","HPO_Synonym__c":"Extra heart beat; Premature ventricular beat; Premature ventricular contractions; Ventricular ectopics; Ventricular extrasystoles; Ventricular premature beat","HPO_Name__c":"Premature ventricular contraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acute form of rhabdomyolysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008942","HPO_Synonym__c":"Rhabdomyolysis, acute","HPO_Name__c":"Acute rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"History of repeated intermittent involuntary muscle contractions that were painful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011964","HPO_Name__c":"Intermittent painful muscle spasms","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002047","HPO_Name__c":"Malignant hyperthermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhabdomyolysis induced by exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009045","HPO_Synonym__c":"Rhabdomyolysis with exercise","HPO_Name__c":"Exercise-induced rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of a masseter muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000005","HPO_Name__c":"Abnormality of masseter muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001722","HPO_Name__c":"High-output congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008978","HPO_Name__c":"Necrotizing myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008331","HPO_Synonym__c":"Elevated CK after exercise; Elevated CPK after exercise; Elevated creatine phosphokinase after exercise; Elevated phospho-CK after exercise; Elevated phospho-creatine kinase after exercise; Increased CK after exercise; Increased creatine kinase after exercise; Increased creatine phosphokinase after exercise; Increased phospho-CK after exercise; Increased phospho-creatine kinase after exercise","HPO_Name__c":"Elevated creatine kinase after exercise","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of mitochondria per cardiac myocyte.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031320","HPO_Name__c":"Cardiomyocyte mitochondrial proliferation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006554","HPO_Synonym__c":"Acute liver failure","HPO_Name__c":"Acute hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["anaesthesia related hyperthermia"," anesthesia related hyperthermia"," anesthesic-triggered malignant hyperthermia"," hyperthermia of anaesthesia"," hyperthermia of anesthesia"," malignant hyperpyrexia"," malignant hyperpyrexia caused by anesthesia"," malignant hyperpyrexia caused by anesthetic"," malignant hyperpyrexia due to anaesthesia"," malignant hyperpyrexia due to anesthesia"," malignant hyperthermia"," malignant hyperthermia caused by anesthesia"," malignant hyperthermia caused by anesthetic"," malignant hyperthermia syndrome"," malignant hyperthermia with anaesthesia"," malignant hyperthermia with anesthesia"]}