MH
MCID: MLG056
MIFTS: 60

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 75 53 25 29 6 44 15
Anesthesia Related Hyperthermia 12 53 25
Malignant Hyperpyrexia Due to Anesthesia 12 72
Malignant Hyperpyrexia 53 25
Mhs - Malignant Hyperthermia 25
Fulminating Hyperpyrexia 53
Hyperpyrexia, Malignant 25
Hyperthermia, Malignant 25
Hyperpyrexia Malignant 53
Pharmacogenic Myopathy 53
Malignant Fever 72
Mh 53

Classifications:



External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 35 995.86
MeSH 44 D008305
NCIt 50 C84869
ICD10 33 T88.3
UMLS 72 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 malignant hyperthermia of anesthesia and myopathy, congenital, bailey-bloch, 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 Aldosterone synthesis and secretion. 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 cardiovascular system and homeostasis/metabolism

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 : 53 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 : 75 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... 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 340)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 34.9 RYR1 CACNA1S
2 myopathy, congenital, bailey-bloch 34.3 STAC3 RYR1 QDPR CACNA1S
3 central core disease of muscle 33.9 RYR2 RYR1 CACNA1S
4 malignant hyperthermia susceptibility 32.4 SCN4A RYR1 MHS6 MHS4 MHS3 MHS2
5 neuroleptic malignant syndrome 31.5 RYR1 PIK3C2A MB
6 myoglobinuria 31.2 PIK3C2A MB CPT2
7 neuromuscular disease 31.0 SCN4A RYR1 DMD
8 hypokalemic periodic paralysis, type 1 30.9 SCN4A RYR1 QDPR CACNA1S
9 hyperkalemic periodic paralysis 30.8 SCN4A CACNA1S
10 central core myopathy 30.8 RYR2 RYR1 QDPR CACNA1S
11 periodic paralyses 30.6 SCN4A CACNA1S
12 catecholaminergic polymorphic ventricular tachycardia 30.3 RYR2 RYR1 ASPH
13 creatine phosphokinase, elevated serum 30.1 PIK3C2A MB DMD
14 myoglobinuria, recurrent 30.0 DMD CPT2
15 brody myopathy 29.9 RYR1 DMD
16 myositis 29.7 PIK3C2A MB DMD
17 anuria 29.6 PIK3C2A MB
18 muscular disease 28.3 SCN4A RYR2 RYR1 QDPR PIK3C2A MB
19 malignant hyperthermia 1 12.9
20 malignant hyperthermia 5 12.8
21 malignant hyperthermia 2 12.8
22 malignant hyperthermia 4 12.8
23 malignant hyperthermia 3 12.8
24 malignant hyperthermia 6 12.8
25 malignant hyperthermia arthrogryposis torticollis 12.6
26 exercise-induced malignant hyperthermia 12.5
27 contractures, congenital, torticollis, and malignant hyperthermia 12.5
28 rare disease with malignant hyperthermia 12.3
29 arthrogryposis, distal, type 2a 11.9
30 multiminicore disease 11.9
31 myotonia congenita 11.6
32 myotonia congenita, autosomal recessive 11.6
33 myoglobinuria, acute recurrent, autosomal recessive 11.3
34 congenital disorder of glycosylation, type it 11.3
35 myopathy 10.8
36 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.8
37 metabolic acidosis 10.6
38 arrhythmogenic right ventricular dysplasia, familial, 2 10.5 RYR2 RYR1
39 hypokalemic periodic paralysis, type 2 10.5 SCN4A QDPR
40 muscular dystrophy 10.5
41 virus associated hemophagocytic syndrome 10.5 PIK3C2A MB
42 cardiac arrest 10.5
43 interstitial myocarditis 10.5 PIK3C2A MB
44 andersen cardiodysrhythmic periodic paralysis 10.4 SCN4A RYR2 CACNA1S
45 disease of mental health 10.4
46 familial periodic paralysis 10.4 SCN4A RYR1 QDPR CACNA1S
47 myopathy, congenital 10.3
48 muscular dystrophy, duchenne type 10.3
49 pseudohyperkalemia, familial, 2, due to red cell leak 10.3 SCN4A PIK3C2A MB
50 posterior myocardial infarction 10.3 PIK3C2A MB

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



Diseases related to Malignant Hyperthermia

Symptoms & Phenotypes for Malignant Hyperthermia

UMLS symptoms related to Malignant Hyperthermia:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ASPH CACNA1S CACNA2D1 CPT2 DMD MB
2 homeostasis/metabolism MP:0005376 10.1 ASPH CACNA1S CASQ1 CPT2 DMD MB
3 mortality/aging MP:0010768 9.93 ASPH CACNA1S CACNB1 CPT2 DMD MB
4 muscle MP:0005369 9.77 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 CASQ1
5 limbs/digits/tail MP:0005371 9.73 ASPH CACNA1S CACNB1 DMD RYR1 STAC3
6 respiratory system MP:0005388 9.17 CACNA1S CPT2 DMD MB RYR1 SCN4A

Drugs & Therapeutics for Malignant Hyperthermia

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

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
5
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
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 Peripheral Nervous System Agents Phase 4
16 Anesthetics, Intravenous Phase 4
17 Neuromuscular Nondepolarizing Agents Phase 4
18 Hormones Phase 4
19 Tocolytic Agents Phase 4
20 Anticonvulsants Phase 4
21 calcium channel blockers Phase 4
22 Calcium, Dietary Phase 4
23 Neuromuscular Depolarizing Agents Phase 4
24 Tranquilizing Agents Phase 4
25 Anti-Anxiety Agents Phase 4
26 Adjuvants, Anesthesia Phase 4
27 GABA Agents Phase 4
28 GABA Modulators Phase 4
29 Excitatory Amino Acid Antagonists Phase 4
30 Psychotropic Drugs Phase 4
31 Anesthetics, Dissociative Phase 4
32 Excitatory Amino Acids Phase 4
33 Pharmaceutical Solutions Phase 4
34 Hypnotics and Sedatives Phase 4
35 Analgesics Phase 4
36 Anti-Arrhythmia Agents Phase 4
37 Neurotransmitter Agents Phase 4
38 Anesthetics, Local Phase 4
39 Adrenergic Agonists Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Sodium Channel Blockers Phase 4
42 Adrenergic alpha-2 Receptor Agonists Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Adrenergic Agents Phase 4
46
Remifentanil Approved Phase 3 132875-61-7 60815
47
Dantrolene Approved, Investigational Phase 2, Phase 3 7261-97-4 2952 6914273
48 Narcotics Phase 3
49 Analgesics, Opioid Phase 3
50
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035

Interventional clinical trials:

(show all 35)
# 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 Not yet 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 Inhaled Sevoflurane Compared to Intravenous Sedation Post Coronary Artery Bypass Grafting Completed NCT00484575 Phase 1, Phase 2 Sevoflurane;propofol
11 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
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 The Effect of an Electronic Dynamic Cognitive Aid Versus a Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
15 Use of a Hand-held Digital Cognitive Aid in the Early Management of Simulated War Completed NCT03483727
16 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770
17 Use of a Wearable Digital Cognitive Aid in Simulated Anesthesia and Intensive Care Crises. Completed NCT02678819
18 The Effect of Maternal Warming During Cesarean Delivery on Neonatal Temperature Completed NCT00616174
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 Pre-warming With Thermal Gown Prevents Maternal Hypothermia in Elective Cesarean Section Completed NCT02091466
23 Rhabdomyolysis in Basic Training Completed NCT00601029
24 Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry Recruiting NCT02964481
25 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
26 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
27 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Recruiting NCT01403402
28 Evaluation of Esophageal Damage During Conventional Pulmonary Vein Ablation Procedures and Potential Strategies to Protect the Esophagus. Pilot Study. Recruiting NCT03832959
29 Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration Active, not recruiting NCT03964870
30 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
31 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
32 Pelvic Health and Physical Therapy to Improve Lives of Prostate Cancer Patients Not yet recruiting NCT04027270
33 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
34 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558
35 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 72 / NDF-RT 51 :


Dantrolene
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:

41
Skeletal Muscle, Testes, Heart, Brain, Skin, Liver, Thyroid

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 3568)
# Title Authors PMID Year
1
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data. 38
31301762 2019
2
The importance of a prepared and ready malignant hyperthermia response team. 38
30743151 2019
3
Dantrolene Requires Mg2+ and ATP To Inhibit the Ryanodine Receptor. 38
31337666 2019
4
Overactivation of the sodium-calcium exchanger and transient receptor potential in anesthesia-induced malignant hyperthermia. 38
31381266 2019
5
Malignant Hyperthermia-Susceptible Adult Patient and Ambulatory Surgery Center: Society for Ambulatory Anesthesia and Ambulatory Surgical Care Committee of the American Society of Anesthesiologists Position Statement. 38
31166228 2019
6
Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation. 38
31029817 2019
7
Malignant hyperthermia with RYR1 novel missense mutation. 38
31304636 2019
8
Malignant Hyperthermia During Translabyrinthine Acoustic Neuroma Surgery After Previous Uneventful Surgery. 38
31157728 2019
9
Efficacy of Malignant Hyperthermia Association of the United States-Recommended Methods of Preparation for Malignant Hyperthermia-Susceptible Patients Using Dräger Zeus Anesthesia Workstations and Associated Costs. 38
29847377 2019
10
Regarding "Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility". 38
30790707 2019
11
Mission Impossible or Mission Futile?: Estimating Penetrance for Malignant Hyperthermia. 38
31335544 2019
12
Ryanodine Receptor to Mitochondrial Reactive Oxygen Species Pathway Plays an Important Role in Chronic Human Immunodeficiency Virus gp120MN-Induced Neuropathic Pain in Rats. 38
30507840 2019
13
Pharmacogenomic considerations for medications in the perioperative setting. 38
31411557 2019
14
Role of dantrolene in dinitrophenol (DNP) overdose: A continuing question? 38
30948257 2019
15
Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta. 38
31236376 2019
16
A suspected case of anesthesia-induced rhabdomyolysis in a child undergoing strabismus surgery. 38
30735783 2019
17
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. 38
30499100 2019
18
STAC3 Disorder 38
31219695 2019
19
Per-anaesthesia malignant hyperthermia: Not so rare, not so usual. 38
31226334 2019
20
Veno-venous extracorporeal membrane oxygenation in the management of malignant hyperthermia. 38
30975382 2019
21
Structural development of a type-1 ryanodine receptor (RyR1) Ca2+-release channel inhibitor guided by endoplasmic reticulum Ca2+ assay. 38
31299492 2019
22
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations. 38
31206373 2019
23
Single-staged Bilateral Revision Knee Prosthesis Results. 38
31355061 2019
24
Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series. 38
30805902 2019
25
Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals. 38
30916033 2019
26
MALIGNANT HYPERTHERMIA CRISIS: PREPARING YOUR ENDOSCOPY STAFF. 38
31145262 2019
27
Thermoregulation and markers of muscle breakdown in malignant hyperthermia susceptible volunteers during an acute heat tolerance test. 38
30503327 2019
28
Increase in carbon dioxide removal for early diagnosis of malignant hyperthermia: A retrospective study from a large medical center in North America. 38
31108278 2019
29
Anomalous Kv 7 channel activity in human malignant hyperthermia syndrome unmasks a key role for H2 S and persulfidation in skeletal muscle. 38
31051045 2019
30
Malignant hyperthermia in a 4-year-old girl during anesthesia induction with sevoflurane and succinylcholine for congenital ptosis surgery. 38
31384166 2019
31
Presumed Malignant Hyperthermia Treated During Cardiopulmonary Bypass in a Pediatric Patient Undergoing Aortic Valve Replacement: A Case Report. 38
30299295 2019
32
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. 38
30788618 2019
33
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. 38
30842289 2019
34
Consensus Statement of the Malignant Hyperthermia Association of the United States on Unresolved Clinical Questions Concerning the Management of Patients With Malignant Hyperthermia. 38
30768455 2019
35
Comment on "Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?" 38
31007664 2019
36
[Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia]. 38
31053363 2019
37
Malignant Hyperthermia During Sleeve Lobectomy for Resection of a Proximal Endobronchial Tumor. 38
31076299 2019
38
Malignant Hyperthermia. 38
31040503 2019
39
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. 38
30715496 2019
40
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. 38
30652412 2019
41
Magnesium sulfate - An effective agent could delay the progression of fulminant malignant hyperthermia. 38
30798905 2019
42
Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management. 38
30509783 2019
43
Almost-certain malignant hyperthermia during cardiopulmonary bypass: a case report and literature review. 38
30843472 2019
44
New October 2018 Malignant Hyperthermia Guidelines: Is Your Emergency Department Prepared? 38
30846143 2019
45
Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility. 38
30142382 2019
46
[Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil]. 38
30935497 2019
47
Emergent Treatment of Neuroleptic Malignant Syndrome Induced by Antipsychotic Monotherapy Using Dantrolene. 38
30775657 2019
48
Acute Manifestations of Neuromuscular Disease. 38
30743297 2019
49
Malignant hyperthermia and dantrolene sodium. 38
29921086 2019
50
Management of malignant hyperthermia in France: Current organisation. 38
30807880 2019

Variations for Malignant Hyperthermia

ClinVar genetic disease variations for Malignant Hyperthermia:

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1): c.1597C> A (p.Arg533Ser) single nucleotide variant drug response rs193922768 19:38946111-38946111 19:38455471-38455471
2 RYR1 NM_000540.2(RYR1): c.12532G> A (p.Gly4178Ser) single nucleotide variant Likely pathogenic rs1057518885 19:39052002-39052002 19:38561362-38561362
3 CACNA1S NM_000069.3(CACNA1S): c.598G> A (p.Ala200Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527702358 1:201060864-201060864 1:201091736-201091736
4 RYR1 NM_000540.2(RYR1): c.14928C> G (p.Phe4976Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368874586 19:39076790-39076790 19:38586150-38586150
5 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 19:39055853-39055853 19:38565213-38565213
6 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 19:39057626-39057626 19:38566986-38566986
7 RYR1 NM_000540.2(RYR1): c.1453A> G (p.Met485Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147723844 19:38945887-38945887 19:38455247-38455247
8 RYR1 NM_000540.2(RYR1): c.5036G> A (p.Arg1679His) single nucleotide variant Conflicting interpretations of pathogenicity rs146504767 19:38976331-38976331 19:38485691-38485691
9 RYR1 NM_000540.2(RYR1): c.4424T> C (p.Met1475Thr) single nucleotide variant Uncertain significance rs779963151 19:38968480-38968480 19:38477840-38477840
10 CACNA1S NM_000069.3(CACNA1S): c.1193T> A (p.Leu398Gln) single nucleotide variant Uncertain significance rs879255337 1:201054117-201054117 1:201084989-201084989
11 CACNA1S NM_000069.3(CACNA1S): c.5489C> G (p.Thr1830Arg) single nucleotide variant Uncertain significance rs1553247295 1:201009092-201009092 1:201039964-201039964
12 CACNA1S NM_000069.3(CACNA1S): c.5417T> C (p.Phe1806Ser) single nucleotide variant Uncertain significance rs1553247334 1:201009164-201009164 1:201040036-201040036
13 CACNA1S NM_000069.3(CACNA1S): c.3686G> C (p.Arg1229Pro) single nucleotide variant Uncertain significance rs774416016 1:201022696-201022696 1:201053568-201053568
14 RYR1 NM_000540.2(RYR1): c.2320G> A (p.Gly774Arg) single nucleotide variant Uncertain significance rs147918857 19:38949938-38949938 19:38459298-38459298
15 RYR1 NM_000540.2(RYR1): c.4006C> A (p.Arg1336Ser) single nucleotide variant Uncertain significance rs755911690 19:38964257-38964257 19:38473617-38473617
16 RYR1 NM_000540.2(RYR1): c.4088C> G (p.Ala1363Gly) single nucleotide variant Uncertain significance rs774603798 19:38964339-38964339 19:38473699-38473699
17 RYR1 NM_000540.2(RYR1): c.15088C> T (p.Arg5030Cys) single nucleotide variant Uncertain significance rs374070555 19:39078031-39078031 19:38587391-38587391
18 CACNA1S NM_000069.3(CACNA1S): c.5570G> A (p.Ser1857Asn) single nucleotide variant Likely benign rs72749169 1:201009011-201009011 1:201039883-201039883
19 CACNA1S NM_000069.3(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 1:201043650-201043650 1:201074522-201074522

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 RYR2 RYR1 QDPR CACNG1 CACNB1 CACNA2D1
2
Show member pathways
12.73 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
3
Show member pathways
12.54 SCN4A RYR2 RYR1 DMD CACNG1 CACNB1
4
Show member pathways
12.46 RYR2 RYR1 DMD CACNG1 CACNB1 CACNA2D1
5
Show member pathways
12.38 RYR2 RYR1 CASQ1 CACNB1 CACNA1S
6
Show member pathways
12.16 CACNG1 CACNB1 CACNA2D1 CACNA1S
7
Show member pathways
12.15 RYR2 DMD CACNG1 CACNB1 CACNA2D1 CACNA1S
8
Show member pathways
12.12 RYR2 DMD CACNG1 CACNB1 CACNA2D1 CACNA1S
9
Show member pathways
11.89 CACNG1 CACNB1 CACNA2D1 CACNA1S
10 11.89 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
11 11.77 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
12
Show member pathways
11.64 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
13 11.58 CACNG1 CACNB1 CACNA2D1 CACNA1S
14 11.46 CACNB1 CACNA2D1 CACNA1S
15 11.41 CACNG1 CACNB1 CACNA2D1 CACNA1S
16 11.25 CACNG1 CACNB1 CACNA2D1 CACNA1S
17 11.12 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18 10.69 RYR2 RYR1
19 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 13)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.76 RYR2 RYR1 DMD CASQ1
2 T-tubule GO:0030315 9.65 RYR1 CASQ1 CACNG1 CACNA2D1 CACNA1S
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 calcium channel complex GO:0034704 9.52 RYR2 RYR1
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.51 RYR2 RYR1
10 sarcoplasmic reticulum lumen GO:0033018 9.49 SRL CASQ1
11 terminal cisterna GO:0014802 9.48 RYR1 CASQ1
12 sarcoplasmic reticulum GO:0016529 9.43 SRL RYR2 RYR1 CASQ1 CACNA2D1 ASPH
13 sarcolemma GO:0042383 9.17 STAC3 RYR2 RYR1 DMD CASQ1 CACNG1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 SCN4A RYR2 RYR1 CACNG1 CACNB1 CACNA2D1
2 ion transmembrane transport GO:0034220 9.86 RYR2 RYR1 CASQ1 ASPH
3 regulation of ion transmembrane transport GO:0034765 9.77 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
4 muscle contraction GO:0006936 9.73 SCN4A RYR1 CACNA1S ASPH
5 skeletal muscle fiber development GO:0048741 9.59 STAC3 RYR1
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 DMD CASQ1
7 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.58 RYR2 DMD
8 response to muscle stretch GO:0035994 9.57 RYR2 DMD
9 calcium ion transport into cytosol GO:0060402 9.55 RYR2 CACNA2D1
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 DMD CASQ1
11 response to caffeine GO:0031000 9.52 RYR2 RYR1
12 regulation of voltage-gated calcium channel activity GO:1901385 9.51 DMD CACNB1
13 cellular response to caffeine GO:0071313 9.5 RYR2 RYR1 CACNA1S
14 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.49 RYR2 RYR1
15 sarcoplasmic reticulum calcium ion transport GO:0070296 9.48 RYR2 CACNG1
16 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.46 DMD CASQ1
17 regulation of cardiac conduction GO:1903779 9.46 RYR2 RYR1 CASQ1 ASPH
18 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.43 CACNG1 CACNB1 CACNA2D1
19 calcium ion transport GO:0006816 9.43 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
20 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 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR2 RYR1
5 calcium-induced calcium release activity GO:0048763 9.16 RYR2 RYR1
6 calcium channel activity GO:0005262 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S

Sources for Malignant Hyperthermia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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46 MGI
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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