MH
MCID: MLG056
MIFTS: 67

Malignant Hyperthermia (MH)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Hyperthermia

MalaCards integrated aliases for Malignant Hyperthermia:

Name: Malignant Hyperthermia 12 74 52 25 29 6 43 15
Anesthesia Related Hyperthermia 12 52 25
Malignant Hyperpyrexia Due to Anesthesia 12 71
Malignant Hyperthermia of Anesthesia 52 58
Hyperthermia of Anesthesia 52 58
Malignant Hyperpyrexia 52 25
Mhs - Malignant Hyperthermia 25
Fulminating Hyperpyrexia 52
Hyperpyrexia, Malignant 25
Hyperthermia, Malignant 25
Hyperpyrexia Malignant 52
Pharmacogenic Myopathy 52
Malignant Fever 71
Mh 52

Characteristics:

Orphanet epidemiological data:

58
malignant hyperthermia of anesthesia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 34 995.86
MeSH 43 D008305
NCIt 49 C84869
ICD10 32 T88.3
MESH via Orphanet 44 D008305
ICD10 via Orphanet 33 T88.3
UMLS via Orphanet 72 C0024591
Orphanet 58 ORPHA423
UMLS 71 C0024591 C2930828

Summaries for Malignant Hyperthermia

Genetics Home Reference : 25 Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening. People at increased risk for this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they undergo testing or have a severe reaction to anesthesia during a surgical procedure. While this condition often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease and multiminicore disease) are associated with malignant hyperthermia susceptibility.

MalaCards based summary : Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to myopathy, congenital, bailey-bloch and malignant hyperthermia susceptibility, and has symptoms including fever, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are CREB Pathway and Cardiac conduction. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are fever and malignant hyperthermia

Disease Ontology : 12 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.

NIH Rare Diseases : 52 Malignant hyperthermia (MH) 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). Without prompt treatment, MH can be life-threatening. People who are at increased risk for this reaction are said to have MH susceptibility . Susceptibility to MH may be caused by mutations 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 susceptibility.

Wikipedia : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more...

Related Diseases for Malignant Hyperthermia

Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6
Rare Disease with Malignant Hyperthermia

Diseases related to Malignant Hyperthermia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 356)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, bailey-bloch 34.7 STAC3 RYR1 CACNA1S
2 malignant hyperthermia susceptibility 34.4 STAC3 SCN4A RYR1 MHS6 MHS4 MHS3
3 central core disease of muscle 34.1 RYR2 RYR1 CACNA1S
4 myopathy 32.2 STAC3 SCN4A RYR1 LAMA2 CASQ1
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 32.1 SCN4A PIK3C2A MB CPT2
6 neuroleptic malignant syndrome 31.9 RYR1 PIK3C2A MB
7 myoglobinuria 31.7 PIK3C2A MB DMD CPT2
8 myopathy, congenital 31.5 STAC3 RYR1 DMD
9 periodic paralysis 31.5 SCN4A RYR1 CACNA1S
10 neuromuscular disease 31.4 SCN4A RYR1 MB LAMA2 DMD CACNA1S
11 muscular dystrophy 31.4 SCN4A RYR2 RYR1 PIK3C2A MB LAMA2
12 acute kidney failure 31.4 PIK3C2A MB CPT2
13 hypokalemic periodic paralysis, type 1 31.3 SCN4A RYR1 QDPR CACNA1S
14 muscular dystrophy, duchenne type 31.3 PIK3C2A MB LAMA2 DMD
15 ptosis 31.2 STAC3 SCN4A RYR1 LAMA2 DMD
16 muscular dystrophy, becker type 31.1 PIK3C2A LAMA2 DMD
17 central core myopathy 31.1 RYR2 RYR1 QDPR CASQ1 CACNA1S ASPH
18 respiratory failure 30.9 RYR1 PIK3C2A LAMA2 DMD CPT2
19 isolated elevated serum creatine phosphokinase levels 30.9 LAMA2 DMD
20 creatine phosphokinase, elevated serum 30.8 PIK3C2A MB LAMA2 DMD
21 catecholaminergic polymorphic ventricular tachycardia 30.7 RYR2 RYR1 CASQ1 CACNA2D1 ASPH
22 skeletal muscle disease 30.7 RYR1 CASQ1
23 periodic paralyses 30.7 SCN4A CACNA1S
24 muscular disease 30.6 SCN4A RYR2 RYR1 PIK3C2A MB LAMA2
25 myoglobinuria, recurrent 30.6 DMD CPT2
26 congenital fiber-type disproportion 30.5 RYR1 QDPR LAMA2 DMD CACNA1S
27 myositis 30.5 RYR1 PIK3C2A MB DMD
28 brugada syndrome 30.5 SCN4A RYR2 DMD CACNA2D1 CACNA1S
29 graves disease 1 30.1 SCN4A CACNA1S
30 brody myopathy 30.1 RYR1 DMD
31 malignant hyperthermia 1 12.9
32 malignant hyperthermia 5 12.8
33 malignant hyperthermia 2 12.8
34 malignant hyperthermia 4 12.8
35 malignant hyperthermia 3 12.8
36 malignant hyperthermia 6 12.8
37 malignant hyperthermia arthrogryposis torticollis 12.6
38 exercise-induced malignant hyperthermia 12.5
39 contractures, congenital, torticollis, and malignant hyperthermia 12.5
40 rare disease with malignant hyperthermia 12.3
41 arthrogryposis, distal, type 2a 11.9
42 multiminicore disease 11.9
43 myotonia congenita 11.6
44 myotonia congenita, autosomal recessive 11.6
45 myoglobinuria, acute recurrent, autosomal recessive 11.3
46 congenital disorder of glycosylation, type it 11.3
47 familial periodic paralysis 10.7 SCN4A RYR1 CACNA1S
48 congenital structural myopathy 10.7 RYR2 RYR1 CACNA1S
49 virus associated hemophagocytic syndrome 10.7 PIK3C2A MB
50 glycogen storage disease v 10.7 MB CPT2 CACNA1S

Graphical network of the top 20 diseases related to Malignant Hyperthermia:



Diseases related to Malignant Hyperthermia

Symptoms & Phenotypes for Malignant Hyperthermia

Human phenotypes related to Malignant Hyperthermia:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
2 malignant hyperthermia 58 31 frequent (33%) Frequent (79-30%) HP:0002047
3 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
4 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
5 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
6 hyperphosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0002905
7 supraventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004755
8 ventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004756
9 intermittent painful muscle spasms 58 31 frequent (33%) Frequent (79-30%) HP:0011964
10 hypercapnia 58 31 frequent (33%) Frequent (79-30%) HP:0012416
11 cardiomyocyte mitochondrial proliferation 58 31 frequent (33%) Frequent (79-30%) HP:0031320
12 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
13 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002153
14 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
15 elevated creatine kinase after exercise 58 31 occasional (7.5%) Occasional (29-5%) HP:0008331
16 abnormality of the coagulation cascade 58 31 occasional (7.5%) Occasional (29-5%) HP:0003256
17 necrotizing myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008978
18 high-output congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001722
19 myoglobinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002913
20 ventricular extrasystoles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006682
21 acute rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008942
22 exercise-induced rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009045
23 abnormality of masseter muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:3000005
24 abnormality of skeletal muscles 58 Frequent (79-30%)

UMLS symptoms related to Malignant Hyperthermia:


fever, pain, postoperative, postoperative nausea and vomiting, muscle rigidity

MGI Mouse Phenotypes related to Malignant Hyperthermia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ASPH CACNA1S CASQ1 CPT2 DMD LAMA2
2 cardiovascular system MP:0005385 10.07 ASPH CACNA1S CACNA2D1 CPT2 DMD MB
3 mortality/aging MP:0010768 10.07 ASPH CACNA1S CACNB1 CPT2 DMD LAMA2
4 muscle MP:0005369 9.97 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 CASQ1
5 respiratory system MP:0005388 9.56 CACNA1S CPT2 DMD LAMA2 MB RYR1
6 skeleton MP:0005390 9.28 CACNA1S CACNB1 CASQ1 CPT2 DMD LAMA2

Drugs & Therapeutics for Malignant Hyperthermia

Drugs for Malignant Hyperthermia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
5
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
6
Succinylcholine Approved Phase 4 306-40-1 5314
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
12 Anesthetics Phase 4
13 Central Nervous System Depressants Phase 4
14 Anesthetics, General Phase 4
15 Anesthetics, Intravenous Phase 4
16 Tocolytic Agents Phase 4
17 Hormones Phase 4
18 Anticonvulsants Phase 4
19 Calcium, Dietary Phase 4
20 Neuromuscular Nondepolarizing Agents Phase 4
21 calcium channel blockers Phase 4
22 Anti-Anxiety Agents Phase 4
23 Tranquilizing Agents Phase 4
24 Adjuvants, Anesthesia Phase 4
25 GABA Agents Phase 4
26 Psychotropic Drugs Phase 4
27 Anesthetics, Dissociative Phase 4
28 GABA Modulators Phase 4
29 Excitatory Amino Acids Phase 4
30 Excitatory Amino Acid Antagonists Phase 4
31 Pharmaceutical Solutions Phase 4
32 Hypnotics and Sedatives Phase 4
33 Analgesics Phase 4
34 Anti-Arrhythmia Agents Phase 4
35 Neurotransmitter Agents Phase 4
36 Anesthetics, Local Phase 4
37 Adrenergic Agonists Phase 4
38 Adrenergic alpha-2 Receptor Agonists Phase 4
39 Sodium Channel Blockers Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Diuretics, Potassium Sparing Phase 4
42 Adrenergic Agents Phase 4
43
Remifentanil Approved Phase 3 132875-61-7 60815
44
Dantrolene Approved, Investigational Phase 2, Phase 3 7261-97-4 2952 6914273
45 Narcotics Phase 3
46 Analgesics, Opioid Phase 3
47
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
48 Anti-Infective Agents Phase 1, Phase 2
49 Respiratory System Agents Phase 1, Phase 2
50 N-monoacetylcystine Phase 1, Phase 2

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
2 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
3 A Randomized, Parallel-group, Safety-assessor-blinded Phase IV Study to Estimate the Influence of Mild Hypothermia on Reversal of Rocuronium-induced Neuromuscular Block With Sugammadex Completed NCT01965067 Phase 4 sugammadex
4 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
5 The Efficacy OF Oral DexmedetomidineVersus Oral Midazolam/Ketamine ON Parental Separation AND Face Mask Acceptance IN Pediatrics Undergoing Adenotonsillectomy Completed NCT03551067 Phase 4 Dexmedetomidine
6 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
7 Comparison Between Dexmedetomidine and Lidocaine as an Adjuvant to General Anesthesia in Patients Undergoing Major Abdominal Surgeries Not yet recruiting NCT03600493 Phase 4 Dexmedetomidine;Lidocaine
8 Assessment of Remifentanil for Rapid Sequence Induction and Intubation in Full Stomach Patient Compared to Muscle Relaxant. A Non-inferiority Simple Blind Randomized Controlled Trial Recruiting NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
9 Dantrolene as a Treatment for Hyperthermia in Patients After Subarachnoidal Hemorrhage Terminated NCT00796900 Phase 2, Phase 3 Dantrolene;Placebo
10 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
11 Inhaled Sevoflurane Compared to Intravenous Sedation Post Coronary Artery Bypass Grafting Completed NCT00484575 Phase 1, Phase 2 Sevoflurane;propofol
12 Phase 2, Multiple-Site, Open-Label, Randomized, 2-Group, Parallel Study to Assess the Efficacy and Safety of Ryanodex(R) (EGL-4101)as Adjuvant Treatment in Subjects With Psychostimulant Drug-Induced Toxicity (PDIT) Active, not recruiting NCT03189433 Phase 2 Ryanodex (dantrolene sodium) for injectable suspension
13 A Phase 1,Open, Dose-escalation Study to Assess the Efficacy and Safety of Fospropofol Disodium Injection in Healthy Volunteers Completed NCT01271569 Phase 1 Fospropofol disodium
14 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
15 The Effect of an Electronic Dynamic Cognitive Aid Versus a Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
16 Use of a Hand-held Digital Cognitive Aid in the Early Management of Simulated War Completed NCT03483727
17 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770
18 Use of a Wearable Digital Cognitive Aid in Simulated Anesthesia and Intensive Care Crises. Completed NCT02678819
19 A Randomized Controlled Trial To Assess Risk of Delirium in Older Adults Undergoing Hip Fracture Surgery With Spinal or General Anesthesia Completed NCT02190903
20 Comparison of Learning Outcomes Between the Roles of Learner (Actor-spectator and Spectator-only) During an Immersive Simulation Completed NCT02804425
21 Speed of General Versus Spinal Anesthesia for Emergency Cesarean Delivery: A Simulation Based Study Completed NCT00966680
22 The Effect of Maternal Warming During Cesarean Delivery on Neonatal Temperature Completed NCT00616174
23 Pre-warming With Thermal Gown Prevents Maternal Hypothermia in Elective Cesarean Section Completed NCT02091466
24 Rhabdomyolysis in Basic Training Completed NCT00601029
25 Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry Recruiting NCT02964481
26 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
27 Evaluation of the Preparation of Runners and the Impact of an Ultra-trail Event in a Hot and Humid Environment (Ultra Trail Adaptation Environment) Recruiting NCT04136925
28 Application of Methodology of Non-invasive Stimulated Muscle Force Assessment to ICU Patients and Patients With Primary Myopathies to Characterize Their Muscle Weakness - Extension of the Study Protocol: 2008 to 2018 Recruiting NCT00735384
29 Evaluation of Esophageal Damage During Conventional Pulmonary Vein Ablation Procedures and Potential Strategies to Protect the Esophagus. Pilot Study. Recruiting NCT03832959
30 Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration Active, not recruiting NCT03964870
31 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
32 TIVA Versus Volatile Anesthetics Admnistration on Stress and Pain Levels During Autologous Fat Transfer in Breast Reconstruction, in a Day Care Center Not yet recruiting NCT04077827 Propofol
33 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
34 Pelvic Health and Physical Therapy to Improve Lives of Prostate Cancer Patients Not yet recruiting NCT04027270
35 Comparison of Electrophysiological Effects of Sevoflurane and Isoflurane-based Anesthesia in Children Undergoing RF Ablation or Cryoablation for SVT Treatment. A Randomized Double Blind Study. Terminated NCT01216501
36 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558
37 Quantitative Assessment of Train of Four Device for Patients Receiving Neuromuscular Blockade Withdrawn NCT02591108

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dantrolene
Dantrolene Sodium

Cochrane evidence based reviews: malignant hyperthermia

Genetic Tests for Malignant Hyperthermia

Genetic tests related to Malignant Hyperthermia:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia 29

Anatomical Context for Malignant Hyperthermia

MalaCards organs/tissues related to Malignant Hyperthermia:

40
Skeletal Muscle, Testes, Heart, Brain, Liver, Thyroid, Kidney

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 3611)
# Title Authors PMID Year
1
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 61 6
14870754 2004
2
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 61 6
14732627 2004
3
Malignant Hyperthermia Susceptibility 61 6
20301325 2003
4
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. 61 6
12220451 2002
5
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 61 6
11741831 2001
6
Malignant hyperthermia and apparent heat stroke. 61 6
11448278 2001
7
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 61 6
11389482 2001
8
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. 61 6
11260227 2001
9
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 61 6
11063719 2000
10
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. 61 6
10888602 2000
11
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. 61 6
9831351 1998
12
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 61 6
9497245 1998
13
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 61 6
9450902 1998
14
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 61 6
9543323 1998
15
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. 61 6
9520251 1997
16
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. 61 6
9199552 1997
17
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. 61 6
9106529 1997
18
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 61 6
9030597 1997
19
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 61 6
8661021 1996
20
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 61 6
8828983 1996
21
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 61 6
8592342 1995
22
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 61 6
7586638 1995
23
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. 61 6
7762556 1995
24
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 61 6
7554356 1995
25
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 61 6
7889656 1994
26
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 61 6
7849712 1994
27
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 61 6
7829078 1994
28
The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. 61 6
7511586 1994
29
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 61 6
8012359 1994
30
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 61 6
8220423 1993
31
No C1840 to T mutation in RYR1 in malignant hyperthermia. 61 6
8401544 1993
32
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 61 6
1354642 1992
33
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. 61 6
1639409 1992
34
DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. 61 6
1329581 1992
35
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 61 6
1774073 1991
36
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 61 6
1774074 1991
37
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 61 6
1862346 1991
38
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
39
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
40
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
41
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
42
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 6
10097181 1999
43
Malignant Hyperthermia Update. 61
32008650 2020
44
Use of Cardiopulmonary Bypass for Treatment of Malignant Hyperthermia. 61
31848081 2020
45
Selective acetylcholinesterase inhibitors derived from muscle relaxant dantrolene. 61
31901380 2020
46
Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review. 61
32008616 2020
47
Drug-associated non-pyrogenic hyperthermia: a narrative review. 61
31642960 2020
48
The anaesthetist, opioid analgesic drugs, and serotonin toxicity: a mechanistic and clinical review. 61
31653394 2020
49
Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia. 61
31903994 2020
50
Prevalence of malignant hyperthermia diagnosis in obstetric patients in the United States, 2003 to 2014. 61
31959119 2020

Variations for Malignant Hyperthermia

ClinVar genetic disease variations for Malignant Hyperthermia:

6 (show top 50) (show all 496) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met)SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
2 RYR1 NM_000540.2(RYR1):c.1201C>T (p.Arg401Cys)SNV Pathogenic/Likely pathogenic 133029 rs193922764 19:38942482-38942482 19:38451842-38451842
3 RYR1 NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys)SNV drug response 133202 rs193922816 19:38991282-38991282 19:38500642-38500642
4 RYR1 NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys)SNV drug response 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
5 RYR1 NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg)SNV drug response 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
6 RYR1 NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys)SNV drug response 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
7 RYR1 NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu)SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
8 RYR1 NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser)SNV drug response 291315 rs193922768 19:38946111-38946111 19:38455471-38455471
9 RYR1 NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser)SNV Likely pathogenic 374083 rs1057518885 19:39052002-39052002 19:38561362-38561362
10 RYR1 NM_000540.2(RYR1):c.13350G>A (p.Gly4450=)SNV Conflicting interpretations of pathogenicity 329126 rs748743312 19:39056324-39056324 19:38565684-38565684
11 RYR1 NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys)SNV Conflicting interpretations of pathogenicity 329032 rs754476250 19:38973969-38973969 19:38483329-38483329
12 RYR1 NM_000540.2(RYR1):c.2356G>A (p.Val786Ile)SNV Conflicting interpretations of pathogenicity 328996 rs369281291 19:38949974-38949974 19:38459334-38459334
13 RYR1 NM_000540.2(RYR1):c.7053T>C (p.Asn2351=)SNV Conflicting interpretations of pathogenicity 329058 rs748167551 19:38990300-38990300 19:38499660-38499660
14 RYR1 NM_000540.2(RYR1):c.8715G>C (p.Leu2905=)SNV Conflicting interpretations of pathogenicity 329083 rs368684717 19:38997491-38997491 19:38506851-38506851
15 CACNA1S NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)SNV Conflicting interpretations of pathogenicity 294744 rs139956524 1:201038650-201038650 1:201069522-201069522
16 CACNA1S NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)SNV Conflicting interpretations of pathogenicity 294770 rs773209639 1:201057007-201057007 1:201087879-201087879
17 CACNA1S NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)SNV Conflicting interpretations of pathogenicity 294774 rs200665694 1:201058543-201058543 1:201089415-201089415
18 CACNA1S NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)SNV Conflicting interpretations of pathogenicity 294777 rs527702358 1:201060864-201060864 1:201091736-201091736
19 CACNA1S NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)SNV Conflicting interpretations of pathogenicity 294762 rs143999390 1:201046246-201046246 1:201077118-201077118
20 RYR1 NM_000540.2(RYR1):c.4257C>T (p.Asn1419=)SNV Conflicting interpretations of pathogenicity 329021 rs36042816 19:38966054-38966054 19:38475414-38475414
21 RYR1 NM_000540.2(RYR1):c.4292C>T (p.Thr1431Met)SNV Conflicting interpretations of pathogenicity 329024 rs191656849 19:38966089-38966089 19:38475449-38475449
22 RYR1 NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala)SNV Conflicting interpretations of pathogenicity 329029 rs767928113 19:38969101-38969101 19:38478461-38478461
23 RYR1 NM_000540.2(RYR1):c.5385G>C (p.Pro1795=)SNV Conflicting interpretations of pathogenicity 329036 rs772422894 19:38976680-38976680 19:38486040-38486040
24 RYR1 NM_000540.2(RYR1):c.6078G>A (p.Glu2026=)SNV Conflicting interpretations of pathogenicity 329044 rs201310026 19:38981323-38981323 19:38490683-38490683
25 RYR1 NM_000540.2(RYR1):c.6318C>A (p.Ala2106=)SNV Conflicting interpretations of pathogenicity 329047 rs769443054 19:38985035-38985035 19:38494395-38494395
26 RYR1 NM_000540.2(RYR1):c.7536C>T (p.Ile2512=)SNV Conflicting interpretations of pathogenicity 329064 rs368560744 19:38991552-38991552 19:38500912-38500912
27 RYR1 NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile)SNV Conflicting interpretations of pathogenicity 329086 rs200797340 19:39002226-39002226 19:38511586-38511586
28 RYR1 NM_000540.2(RYR1):c.9261C>T (p.Ile3087=)SNV Conflicting interpretations of pathogenicity 329087 rs56338790 19:39002912-39002912 19:38512272-38512272
29 RYR1 NM_000540.2(RYR1):c.11412C>T (p.Leu3804=)SNV Conflicting interpretations of pathogenicity 329108 rs376851030 19:39025833-39025833 19:38535193-38535193
30 RYR1 NM_000540.2(RYR1):c.14283G>A (p.Pro4761=)SNV Conflicting interpretations of pathogenicity 329136 rs201157293 19:39068668-39068668 19:38578028-38578028
31 RYR1 NM_000540.2(RYR1):c.3924G>C (p.Pro1308=)SNV Conflicting interpretations of pathogenicity 329014 rs144350050 19:38964175-38964175 19:38473535-38473535
32 RYR1 NM_000540.2(RYR1):c.4269C>T (p.Pro1423=)SNV Conflicting interpretations of pathogenicity 329023 rs2229141 19:38966066-38966066 19:38475426-38475426
33 RYR1 NM_000540.2(RYR1):c.6651C>T (p.Gly2217=)SNV Conflicting interpretations of pathogenicity 329053 rs371006370 19:38986957-38986957 19:38496317-38496317
34 RYR1 NM_001042723.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del)short repeat Conflicting interpretations of pathogenicity 329041 rs371047178 19:38979895-38979897 19:38489255-38489257
35 RYR1 NM_000540.2(RYR1):c.9555-10C>TSNV Conflicting interpretations of pathogenicity 329089 rs774666035 19:39006717-39006717 19:38516077-38516077
36 RYR1 NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=)SNV Conflicting interpretations of pathogenicity 329106 rs886054401 19:39025392-39025392 19:38534752-38534752
37 RYR1 NM_000540.2(RYR1):c.14196C>A (p.Ile4732=)SNV Conflicting interpretations of pathogenicity 329135 rs201670423 19:39068581-39068581 19:38577941-38577941
38 RYR1 NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn)SNV Conflicting interpretations of pathogenicity 328997 rs200893443 19:38951199-38951199 19:38460559-38460559
39 RYR1 NM_000540.2(RYR1):c.2937G>A (p.Ala979=)SNV Conflicting interpretations of pathogenicity 329003 rs775442275 19:38956797-38956797 19:38466157-38466157
40 RYR1 NM_000540.2(RYR1):c.3021C>T (p.Ser1007=)SNV Conflicting interpretations of pathogenicity 329005 rs143891703 19:38956881-38956881 19:38466241-38466241
41 RYR1 NM_000540.2(RYR1):c.7344T>C (p.Gly2448=)SNV Conflicting interpretations of pathogenicity 329060 rs199813873 19:38991266-38991266 19:38500626-38500626
42 RYR1 NM_000540.2(RYR1):c.7385C>T (p.Pro2462Leu)SNV Conflicting interpretations of pathogenicity 329061 rs551223467 19:38991307-38991307 19:38500667-38500667
43 RYR1 NM_000540.2(RYR1):c.8082G>A (p.Glu2694=)SNV Conflicting interpretations of pathogenicity 329076 rs745619519 19:38995402-38995402 19:38504762-38504762
44 RYR1 NM_000540.2(RYR1):c.8310+10A>GSNV Conflicting interpretations of pathogenicity 329077 rs372730488 19:38995731-38995731 19:38505091-38505091
45 RYR1 NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val)SNV Conflicting interpretations of pathogenicity 329088 rs2915960 19:39003004-39003004 19:38512364-38512364
46 RYR1 NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly)SNV Conflicting interpretations of pathogenicity 329090 rs199738299 19:39006807-39006807 19:38516167-38516167
47 RYR1 NM_000540.2(RYR1):c.10458C>T (p.Ser3486=)SNV Conflicting interpretations of pathogenicity 329100 rs770132934 19:39015974-39015974 19:38525334-38525334
48 RYR1 NM_000540.2(RYR1):c.14670G>C (p.Val4890=)SNV Conflicting interpretations of pathogenicity 329138 rs773080803 19:39075606-39075606 19:38584966-38584966
49 CACNA1S NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)SNV Conflicting interpretations of pathogenicity 294710 rs200848930 1:201012575-201012575 1:201043447-201043447
50 RYR1 NM_000540.2(RYR1):c.10938-9C>TSNV Conflicting interpretations of pathogenicity 256397 rs201976186 19:39019230-39019230 19:38528590-38528590

Expression for Malignant Hyperthermia

Search GEO for disease gene expression data for Malignant Hyperthermia.

Pathways for Malignant Hyperthermia

Pathways related to Malignant Hyperthermia according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 RYR2 RYR1 QDPR CACNG1 CACNB1 CACNA2D1
2
Show member pathways
12.75 SCN4A RYR2 RYR1 DMD CACNG1 CACNB1
3
Show member pathways
12.6 RYR2 RYR1 DMD CACNG1 CACNB1 CACNA2D1
4
Show member pathways
12.43 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
5
Show member pathways
12.41 RYR2 RYR1 CASQ1 CACNB1 CACNA1S
6
Show member pathways
12.41 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
7
Show member pathways
12.19 RYR2 RYR1 CASQ1 CACNA1S ASPH
8
Show member pathways
12.18 CACNG1 CACNB1 CACNA2D1 CACNA1S
9
Show member pathways
12.14 RYR2 LAMA2 DMD CACNG1 CACNB1 CACNA2D1
10 12.03 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
11
Show member pathways
11.93 CACNG1 CACNB1 CACNA2D1 CACNA1S
12
Show member pathways
11.88 RYR2 LAMA2 DMD CACNG1 CACNB1 CACNA2D1
13
Show member pathways
11.71 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
14 11.67 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S ASPH
15 11.58 CACNG1 CACNB1 CACNA2D1 CACNA1S
16 11.49 CACNB1 CACNA2D1 CACNA1S
17 11.12 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18 10.87 LAMA2 DMD
19 10.69 RYR2 RYR1
20 10.1 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S

GO Terms for Malignant Hyperthermia

Cellular components related to Malignant Hyperthermia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.76 RYR2 RYR1 DMD CASQ1
2 sarcoplasmic reticulum GO:0016529 9.65 RYR2 RYR1 CASQ1 CACNA2D1 ASPH
3 sarcoplasmic reticulum membrane GO:0033017 9.62 RYR2 RYR1 CASQ1 ASPH
4 smooth endoplasmic reticulum GO:0005790 9.61 RYR2 RYR1 CASQ1
5 I band GO:0031674 9.58 RYR1 CASQ1 CACNA1S
6 voltage-gated calcium channel complex GO:0005891 9.55 STAC3 CACNG1 CACNB1 CACNA2D1 CACNA1S
7 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNG1 CACNA2D1 CACNA1S
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.49 RYR2 RYR1
9 terminal cisterna GO:0014802 9.48 RYR1 CASQ1
10 T-tubule GO:0030315 9.43 STAC3 RYR1 CASQ1 CACNG1 CACNA2D1 CACNA1S
11 sarcolemma GO:0042383 9.23 STAC3 RYR2 RYR1 LAMA2 DMD CASQ1

Biological processes related to Malignant Hyperthermia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 SCN4A RYR2 RYR1 CACNG1 CACNB1 CACNA2D1
2 ion transmembrane transport GO:0034220 9.87 RYR2 RYR1 CASQ1 ASPH
3 regulation of ion transmembrane transport GO:0034765 9.8 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
4 muscle contraction GO:0006936 9.76 SCN4A RYR1 CACNA1S ASPH
5 regulation of cardiac conduction GO:1903779 9.67 RYR2 RYR1 CASQ1 ASPH
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 DMD CASQ1
7 response to muscle stretch GO:0035994 9.58 RYR2 DMD
8 calcium ion transport into cytosol GO:0060402 9.56 RYR2 CACNA2D1
9 cardiac conduction GO:0061337 9.56 CACNG1 CACNB1 CACNA2D1 CACNA1S
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.55 DMD CASQ1
11 response to caffeine GO:0031000 9.54 RYR2 RYR1
12 regulation of voltage-gated calcium channel activity GO:1901385 9.52 DMD CACNB1
13 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.51 RYR2 RYR1
14 cellular response to caffeine GO:0071313 9.5 RYR2 RYR1 CACNA1S
15 sarcoplasmic reticulum calcium ion transport GO:0070296 9.49 RYR2 CACNG1
16 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.48 DMD CASQ1
17 calcium ion transport GO:0006816 9.43 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.33 CACNG1 CACNB1 CACNA2D1
19 calcium ion transmembrane transport GO:0070588 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S

Molecular functions related to Malignant Hyperthermia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-release channel activity GO:0015278 9.37 RYR2 RYR1
2 voltage-gated calcium channel activity GO:0005245 9.35 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
3 high voltage-gated calcium channel activity GO:0008331 9.32 CACNB1 CACNA1S
4 calcium-induced calcium release activity GO:0048763 9.26 RYR2 RYR1
5 ryanodine-sensitive calcium-release channel activity GO:0005219 9.16 RYR2 RYR1
6 calcium channel activity GO:0005262 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S

Sources for Malignant Hyperthermia

3 CDC
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