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MH
MCID: MLG056
MIFTS: 62

Malignant Hyperthermia (MH)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Malignant Hyperthermia

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MalaCards integrated aliases for Malignant Hyperthermia:

Name: Malignant Hyperthermia 12 76 53 25 29 6 44 15
Anesthesia Related Hyperthermia 12 53 25
Malignant Hyperpyrexia Due to Anesthesia 12 73
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 73
Mh 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases Blood diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:8545
ICD10 33 T88.3
ICD9CM 35 995.86
MeSH 44 D008305
NCIt 50 C84869
Sources

Summaries for Malignant Hyperthermia

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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.

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, muscle rigidity and pain, postoperative. An important gene associated with Malignant Hyperthermia is MHS6 (Malignant Hyperthermia Susceptibility 6), and among its related pathways/superpathways are CREB Pathway and Aldosterone synthesis and secretion. The drugs Dantrolene and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are homeostasis/metabolism and behavior/neurological

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.

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.

Wikipedia : 76 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

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Related Diseases for Malignant Hyperthermia

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Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 33.9 CACNA1S RYR1
2 myopathy, congenital, bailey-bloch 33.6 CACNA1S QDPR RYR1 STAC3
3 malignant hyperthermia susceptibility 33.0 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
4 central core disease of muscle 32.9 CACNA1S RYR1 RYR2
5 neuroleptic malignant syndrome 30.8 MB PIK3C2A RYR1
6 hypokalemic periodic paralysis, type 1 30.2 CACNA1S QDPR RYR1 SCN4A
7 myoglobinuria 30.2 CPT2 MB PIK3C2A
8 neuromuscular disease 30.1 DMD LAMA2 RYR1 SCN4A
9 muscular dystrophy, becker type 30.0 DMD LAMA2 PIK3C2A
10 periodic paralyses 30.0 CACNA1S SCN4A
11 isolated hyperckemia 30.0 DMD LAMA2
12 muscular dystrophy 30.0 CASQ1 DMD LAMA2 PIK3C2A RYR1
13 muscle disorders 29.9 PIK3C2A RYR1 RYR2
14 hyperkalemic periodic paralysis 29.9 CACNA1S SCN4A
15 central core myopathy 29.9 CACNA1S QDPR RYR1 RYR2
16 catecholaminergic polymorphic ventricular tachycardia 29.8 ASPH RYR1 RYR2
17 brody myopathy 29.7 DMD RYR1
18 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 29.6 CPT2 MB PIK3C2A RYR1 SCN4A
19 malignant hyperthermia 1 12.7
20 malignant hyperthermia 5 12.6
21 malignant hyperthermia 2 12.5
22 malignant hyperthermia 3 12.5
23 malignant hyperthermia 4 12.5
24 malignant hyperthermia 6 12.5
25 malignant hyperthermia arthrogryposis torticollis 12.4
26 exercise-induced malignant hyperthermia 12.4
27 contractures, congenital, torticollis, and malignant hyperthermia 12.2
28 myotonia congenita 11.4
29 arthrogryposis, distal, type 2a 11.1
30 myotonia congenita, autosomal recessive 11.1
31 myoglobinuria, acute recurrent, autosomal recessive 11.1
32 myopathy 10.4
33 hypokalemic periodic paralysis, type 2 10.2 QDPR SCN4A
34 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 RYR1 RYR2
35 virus associated hemophagocytic syndrome 10.2 MB PIK3C2A
36 interstitial myocarditis 10.2 MB PIK3C2A
37 myopathy, tubular aggregate, 1 10.2 CASQ1 QDPR RYR1
38 andersen cardiodysrhythmic periodic paralysis 10.2 CACNA1S RYR2 SCN4A
39 compartment syndrome 10.2
40 myoglobinuria, recurrent 10.2 CPT2 DMD
41 familial periodic paralysis 10.1 CACNA1S QDPR RYR1 SCN4A
42 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 MB PIK3C2A SCN4A
43 gas gangrene 10.1 DMD MB PIK3C2A
44 posterior myocardial infarction 10.1 MB PIK3C2A
45 chromosome xp21 deletion syndrome 10.1 DMD PIK3C2A
46 myopathy, congenital 10.1
47 cardiomyopathy, dilated, 1b 10.1 DMD LAMA2
48 arrhythmogenic right ventricular cardiomyopathy 10.1 CACNA1S DMD RYR1 RYR2
49 muscular dystrophy, congenital, 1b 10.1 DMD LAMA2
50 myositis 10.1 DMD MB PIK3C2A

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



Diseases related to Malignant Hyperthermia
Sources

Symptoms & Phenotypes for Malignant Hyperthermia

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UMLS symptoms related to Malignant Hyperthermia:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 ASPH CACNA1S CASQ1 CPT2 DMD LAMA2
2 behavior/neurological MP:0005386 10.16 CACNA1S CACNA2D1 CACNB1 DMD LAMA2 PIK3C2A
3 growth/size/body region MP:0005378 10.14 ASPH CACNA1S CASQ1 DMD LAMA2 MB
4 cardiovascular system MP:0005385 10.13 ASPH CACNA1S CACNA2D1 CPT2 DMD MB
5 mortality/aging MP:0010768 10.07 ASPH CACNA1S CACNB1 CPT2 DMD LAMA2
6 muscle MP:0005369 9.97 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 CASQ1
7 limbs/digits/tail MP:0005371 9.8 ASPH CACNA1S CACNB1 DMD RYR1 STAC3
8 respiratory system MP:0005388 9.5 CACNA1S CPT2 DMD MB RYR1 SCN4A
9 skeleton MP:0005390 9.23 CACNA1S CACNB1 CPT2 DMD LAMA2 QDPR
Sources

Drugs & Therapeutics for Malignant Hyperthermia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dantrolene Approved, Investigational Phase 2 7261-97-4 2952 6914273
2
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
3 Anesthetics Phase 2,Not Applicable
4 Peripheral Nervous System Agents Phase 2
5 Neuromuscular Agents Phase 2
6 Anesthetics, Inhalation Phase 2,Not Applicable
7 Platelet Aggregation Inhibitors Phase 2
8 Central Nervous System Depressants Phase 2,Not Applicable
9 Anesthetics, General Phase 2,Not Applicable
10
Halothane Approved, Vet_approved 151-67-7 3562
11
Caffeine Approved 58-08-2 2519
12
Adenosine Approved, Investigational 58-61-7 60961
13 Vasodilator Agents
14 Anti-Arrhythmia Agents
15 Neurotransmitter Agents
16 Analgesics

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Ryanodex as Adjuvant Treatment in Subjects With Psychostimulant Drug-Induced Toxicity (PDIT) Active, not recruiting NCT03189433 Phase 2 Ryanodex (dantrolene sodium) for injectable suspension
2 Sevoflurane Sedation on Intra Cranial Pressure in Traumatic Brain Injury Patients Terminated NCT01374633 Phase 2 1: Sevoflurane
3 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770 Not Applicable
4 Use of a Hand-held Digital Cognitive Aid in the Early Management of Simulated War Wounds. Completed NCT03483727 Not Applicable
5 Effect of an Electronic Cognitive Aid Versus Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607 Not Applicable
6 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
7 Malignant Hyperthermia Registry and Genetic Testing Recruiting NCT02964481
8 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Not yet recruiting NCT01306994
11 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558 Not Applicable

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: malignant hyperthermia

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Genetic Tests for Malignant Hyperthermia

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Genetic tests related to Malignant Hyperthermia:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia 29
Sources

Anatomical Context for Malignant Hyperthermia

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MalaCards organs/tissues related to Malignant Hyperthermia:

41
Skeletal Muscle, Testes, Heart, Bone, Brain, Thyroid, Placenta
Sources

Publications for Malignant Hyperthermia

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Articles related to Malignant Hyperthermia:

(show top 50) (show all 1211)
# Title Authors Year
1
The use of charcoal filters in malignant hyperthermia: have they found their place? ( 30088269 )
2019
2
Succinylcholine Use and Dantrolene Availability for Malignant Hyperthermia Treatment: Database Analyses and Systematic Review. ( 30550426 )
2019
3
Management of a Patient With a History of Nonanesthesia-Related Malignant Hyperthermia Undergoing Laparoscopic Cholecystectomy: A Case Report. ( 29608462 )
2018
4
Cost-benefit Analysis of Maintaining a Fully Stocked Malignant Hyperthermia Cart versus an Initial Dantrolene Treatment Dose for Maternity Units. ( 29672336 )
2018
5
Dantrolene and Malignant Hyperthermia Carts: Do We Need Them on Maternity Units? ( 29847427 )
2018
6
Voltage modulates halothane-triggered Ca<sup>2+</sup>release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
7
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. ( 29344738 )
2018
8
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
9
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
10
Malignant hyperthermia and Dantrolene sodium. ( 29921086 )
2018
11
Myotoxicity of local anesthetics is equivalent in individuals with and without predisposition to malignant hyperthermia. ( 29938387 )
2018
12
TRPV1 variants impair intracellular Ca<sup>2+</sup> signaling and may confer susceptibility to malignant hyperthermia. ( 29930394 )
2018
13
Efficacy of Malignant Hyperthermia Association of the United States-Recommended Methods of Preparation for Malignant Hyperthermia-Susceptible Patients Using DrAoger Zeus Anesthesia Workstations and Associated Costs. ( 29847377 )
2018
14
Malignant Hyperthermia: Review of Diagnosis and Treatment during Cardiac Surgery with Cardiopulmonary Bypass. ( 29730239 )
2018
15
A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery. ( 29881197 )
2018
16
Dantrolene : From Malignant Hyperthermia to Alzheimer's Disease. ( 29921212 )
2018
17
Updated guide for the management of malignant hyperthermia. ( 29600483 )
2018
18
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
19
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH): Erratum. ( 29517572 )
2018
20
Using eye tracking technology to compare the effectiveness of malignant hyperthermia cognitive aid design. ( 29760370 )
2018
21
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH). ( 29461317 )
2018
22
Malignant hyperthermia: still an issue for neuromuscular diseases? ( 30015672 )
2018
23
Junctional membrane Ca2+ dynamics in human muscle fibers are altered by malignant hyperthermia causative RyR mutation. ( 30038012 )
2018
24
A 20-Year-Old-Trauma Patient With Suspected Malignant Hyperthermia Following Induction With Succinylcholine: A Case Study. ( 30059371 )
2018
25
Malignant Hyperthermia: From the OR to the Sidelines. ( 30095544 )
2018
26
Malignant Hyperthermia: A Case Report in a Trauma Patient. ( 30098954 )
2018
27
Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population? ( 30100861 )
2018
28
Use of Optiflow™ nasal high-flow oxygen in a patient with malignant hyperthermia. ( 30115272 )
2018
29
A genetic mystery in malignant hyperthermia 'solved'? ( 30115273 )
2018
30
Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility. ( 30142382 )
2018
31
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ( 30168660 )
2018
32
Ultrasound Elastography for Rapid, Real-time Detection of Localized Muscular Reaction in Malignant Hyperthermia-susceptible Pigs. ( 30204593 )
2018
33
Genetic epidemiology of malignant hyperthermia in the UK. ( 30236257 )
2018
34
Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1. ( 30236258 )
2018
35
Has malignant hyperthermia really disappeared with halothane? Comment on Br J Anaesth 2017; 119: i44-52. ( 30236268 )
2018
36
Malignant Hyperthermia: A Review. ( 30236564 )
2018
37
Presumed Malignant Hyperthermia Treated During Cardiopulmonary Bypass in a Pediatric Patient Undergoing Aortic Valve Replacement: A Case Report. ( 30299295 )
2018
38
Comparison of chlorantraniliprole and flubendiamide activity towards wild type and malignant hyperthermia-susceptible ryanodine receptors and heat stress intolerance. ( 30329129 )
2018
39
Association between known or strongly suspected malignant hyperthermia susceptibility and postoperative outcomes: an observational population-based study. ( 30421146 )
2018
40
Malignant hyperthermia. ( 30459030 )
2018
41
Thermoregulation and markers of muscle breakdown in malignant hyperthermia susceptible volunteers during an acute heat tolerance test. ( 30503327 )
2018
42
In vitro effects of levosimendan on muscle of malignant hyperthermia susceptible and non-susceptible swine. ( 30509180 )
2018
43
A Case Report of Suspected Malignant Hyperthermia: How Will the Diagnosis Affect a Patient's Insurability? ( 30510808 )
2018
44
The use of a checklist improves anaesthesiologists' technical and non-technical performance for simulated malignant hyperthermia management. ( 28939466 )
2017
45
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
46
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
47
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. ( 28259615 )
2017
48
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
49
Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy. ( 28303866 )
2017
50
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
Sources

Variations for Malignant Hyperthermia

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ClinVar genetic disease variations for Malignant Hyperthermia:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh37 Chromosome 19, 39055853: 39055853
2 RYR1 NM_000540.2(RYR1): c.12879G> C (p.Ala4293=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922854 GRCh38 Chromosome 19, 38565213: 38565213
3 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh37 Chromosome 19, 39057626: 39057626
4 RYR1 NM_000540.2(RYR1): c.13513G> C (p.Asp4505His) single nucleotide variant Conflicting interpretations of pathogenicity rs150396398 GRCh38 Chromosome 19, 38566986: 38566986
5 RYR1 NM_000540.2(RYR1): c.1453A> G (p.Met485Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147723844 GRCh38 Chromosome 19, 38455247: 38455247
6 RYR1 NM_000540.2(RYR1): c.1453A> G (p.Met485Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147723844 GRCh37 Chromosome 19, 38945887: 38945887
7 RYR1 NM_000540.2(RYR1): c.5036G> A (p.Arg1679His) single nucleotide variant Conflicting interpretations of pathogenicity rs146504767 GRCh37 Chromosome 19, 38976331: 38976331
8 RYR1 NM_000540.2(RYR1): c.5036G> A (p.Arg1679His) single nucleotide variant Conflicting interpretations of pathogenicity rs146504767 GRCh38 Chromosome 19, 38485691: 38485691
9 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh37 Chromosome 1, 201043650: 201043650
10 CACNA1S NM_000069.2(CACNA1S): c.2047C> T (p.Arg683Cys) single nucleotide variant Benign/Likely benign rs35708442 GRCh38 Chromosome 1, 201074522: 201074522
11 RYR1 NM_000540.2(RYR1): c.14928C> G (p.Phe4976Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368874586 GRCh37 Chromosome 19, 39076790: 39076790
12 RYR1 NM_000540.2(RYR1): c.14928C> G (p.Phe4976Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368874586 GRCh38 Chromosome 19, 38586150: 38586150
13 RYR1 NM_000540.2(RYR1): c.4424T> C (p.Met1475Thr) single nucleotide variant Uncertain significance rs779963151 GRCh38 Chromosome 19, 38477840: 38477840
14 RYR1 NM_000540.2(RYR1): c.4424T> C (p.Met1475Thr) single nucleotide variant Uncertain significance rs779963151 GRCh37 Chromosome 19, 38968480: 38968480
15 CACNA1S NM_000069.2(CACNA1S): c.1193T> A (p.Leu398Gln) single nucleotide variant Uncertain significance rs879255337 GRCh37 Chromosome 1, 201054117: 201054117
16 CACNA1S NM_000069.2(CACNA1S): c.1193T> A (p.Leu398Gln) single nucleotide variant Uncertain significance rs879255337 GRCh38 Chromosome 1, 201084989: 201084989
17 CACNA1S NM_000069.2(CACNA1S): c.5570G> A (p.Ser1857Asn) single nucleotide variant Likely benign rs72749169 GRCh37 Chromosome 1, 201009011: 201009011
18 CACNA1S NM_000069.2(CACNA1S): c.5570G> A (p.Ser1857Asn) single nucleotide variant Likely benign rs72749169 GRCh38 Chromosome 1, 201039883: 201039883
19 RYR1 NM_000540.2(RYR1): c.15088C> T (p.Arg5030Cys) single nucleotide variant Uncertain significance rs374070555 GRCh38 Chromosome 19, 38587391: 38587391
20 RYR1 NM_000540.2(RYR1): c.15088C> T (p.Arg5030Cys) single nucleotide variant Uncertain significance rs374070555 GRCh37 Chromosome 19, 39078031: 39078031
21 RYR1 NM_000540.2(RYR1): c.1597C> A (p.Arg533Ser) single nucleotide variant Likely pathogenic rs193922768 GRCh37 Chromosome 19, 38946111: 38946111
22 RYR1 NM_000540.2(RYR1): c.1597C> A (p.Arg533Ser) single nucleotide variant Likely pathogenic rs193922768 GRCh38 Chromosome 19, 38455471: 38455471
23 CACNA1S NM_000069.2(CACNA1S): c.598G> A (p.Ala200Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527702358 GRCh37 Chromosome 1, 201060864: 201060864
24 CACNA1S NM_000069.2(CACNA1S): c.598G> A (p.Ala200Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs527702358 GRCh38 Chromosome 1, 201091736: 201091736
25 RYR1 NM_000540.2(RYR1): c.12532G> A (p.Gly4178Ser) single nucleotide variant Likely pathogenic rs1057518885 GRCh37 Chromosome 19, 39052002: 39052002
26 RYR1 NM_000540.2(RYR1): c.12532G> A (p.Gly4178Ser) single nucleotide variant Likely pathogenic rs1057518885 GRCh38 Chromosome 19, 38561362: 38561362
27 CACNA1S NM_000069.2(CACNA1S): c.5489C> G (p.Thr1830Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 201009092: 201009092
28 CACNA1S NM_000069.2(CACNA1S): c.5489C> G (p.Thr1830Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 201039964: 201039964
29 CACNA1S NM_000069.2(CACNA1S): c.5417T> C (p.Phe1806Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 201009164: 201009164
30 CACNA1S NM_000069.2(CACNA1S): c.5417T> C (p.Phe1806Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 201040036: 201040036
31 CACNA1S NM_000069.2(CACNA1S): c.3686G> C (p.Arg1229Pro) single nucleotide variant Uncertain significance rs774416016 GRCh37 Chromosome 1, 201022696: 201022696
32 CACNA1S NM_000069.2(CACNA1S): c.3686G> C (p.Arg1229Pro) single nucleotide variant Uncertain significance rs774416016 GRCh38 Chromosome 1, 201053568: 201053568
33 RYR1 NM_000540.2(RYR1): c.2320G> A (p.Gly774Arg) single nucleotide variant Uncertain significance rs147918857 GRCh37 Chromosome 19, 38949938: 38949938
34 RYR1 NM_000540.2(RYR1): c.2320G> A (p.Gly774Arg) single nucleotide variant Uncertain significance rs147918857 GRCh38 Chromosome 19, 38459298: 38459298
35 RYR1 NM_000540.2(RYR1): c.4006C> A (p.Arg1336Ser) single nucleotide variant Uncertain significance rs755911690 GRCh37 Chromosome 19, 38964257: 38964257
36 RYR1 NM_000540.2(RYR1): c.4006C> A (p.Arg1336Ser) single nucleotide variant Uncertain significance rs755911690 GRCh38 Chromosome 19, 38473617: 38473617
37 RYR1 NM_000540.2(RYR1): c.4088C> G (p.Ala1363Gly) single nucleotide variant Uncertain significance rs774603798 GRCh37 Chromosome 19, 38964339: 38964339
38 RYR1 NM_000540.2(RYR1): c.4088C> G (p.Ala1363Gly) single nucleotide variant Uncertain significance rs774603798 GRCh38 Chromosome 19, 38473699: 38473699
Sources

Expression for Malignant Hyperthermia

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Search GEO for disease gene expression data for Malignant Hyperthermia.
Sources

Pathways for Malignant Hyperthermia

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
CREB Pathway 64
Show member pathways
 13.19 CACNA1S CACNA2D1 CACNB1 CACNG1 QDPR RYR1
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.64 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
3
Cardiac conduction 66
Show member pathways
 12.64 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 DMD
4
Vascular smooth muscle contraction 37
Show member pathways
 12.59 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
5
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.41 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR1
6
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.4 CACNA1S CACNB1 CASQ1 RYR1 RYR2
7
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.27 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD LAMA2
8
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.17 CACNA1S CACNA2D1 CACNB1 CACNG1
9
Presenilin-Mediated Signaling 64
12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
10
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.94 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD LAMA2
11
Fc-GammaR Pathway 64
Show member pathways
 11.91 CACNA1S CACNA2D1 CACNB1 CACNG1
12
Cardiac muscle contraction 37
11.75 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
13
Phase 0 - rapid depolarisation 66
Show member pathways
 11.71 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
14
G-protein signaling_RhoA regulation pathway 22
11.58 CACNA1S CACNA2D1 CACNB1 CACNG1
15
Celecoxib Pathway, Pharmacodynamics 61
11.48 CACNA1S CACNA2D1 CACNB1
16
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
11.43 CACNA1S CACNA2D1 CACNB1 CACNG1
17
G-protein signaling_Cross-talk between Ras-family GTPases 22
11.26 CACNA1S CACNA2D1 CACNB1 CACNG1
18
Netrin Signaling 64
11.12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
19
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 64
10.88 DMD LAMA2
20
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.7 RYR1 RYR2
21
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 61
10.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1
Sources

GO Terms for Malignant Hyperthermia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.76 CASQ1 DMD RYR1 RYR2
2 sarcoplasmic reticulum GO:0016529 9.65 ASPH CACNA2D1 CASQ1 RYR1 RYR2
3 sarcoplasmic reticulum membrane GO:0033017 9.62 ASPH CASQ1 RYR1 RYR2
4 smooth endoplasmic reticulum GO:0005790 9.61 CASQ1 RYR1 RYR2
5 I band GO:0031674 9.58 CACNA1S CASQ1 RYR1
6 T-tubule GO:0030315 9.55 CACNA1S CACNA2D1 CACNG1 CASQ1 RYR1
7 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNA1S CACNA2D1 CACNG1
8 calcium channel complex GO:0034704 9.51 RYR1 RYR2
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.49 RYR1 RYR2
10 terminal cisterna GO:0014802 9.48 CASQ1 RYR1
11 voltage-gated calcium channel complex GO:0005891 9.35 CACNA1S CACNA2D1 CACNB1 CACNG1 STAC3
12 sarcolemma GO:0042383 9.28 CACNA1S CACNB1 CACNG1 CASQ1 DMD LAMA2

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 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
2 ion transmembrane transport GO:0034220 9.86 ASPH CASQ1 RYR1 RYR2
3 regulation of ion transmembrane transport GO:0034765 9.77 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
4 muscle contraction GO:0006936 9.73 ASPH CACNA1S RYR1 SCN4A
5 skeletal muscle fiber development GO:0048741 9.59 RYR1 STAC3
6 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.58 DMD RYR2
7 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 CASQ1 DMD
8 response to muscle stretch GO:0035994 9.57 DMD RYR2
9 calcium ion transport into cytosol GO:0060402 9.55 CACNA2D1 RYR2
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 CASQ1 DMD
11 response to caffeine GO:0031000 9.52 RYR1 RYR2
12 regulation of voltage-gated calcium channel activity GO:1901385 9.51 CACNB1 DMD
13 cellular response to caffeine GO:0071313 9.5 CACNA1S RYR1 RYR2
14 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.49 RYR1 RYR2
15 sarcoplasmic reticulum calcium ion transport GO:0070296 9.48 CACNG1 RYR2
16 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.46 CASQ1 DMD
17 regulation of cardiac conduction GO:1903779 9.46 ASPH CASQ1 RYR1 RYR2
18 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.43 CACNA2D1 CACNB1 CACNG1
19 calcium ion transport GO:0006816 9.43 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
20 calcium ion transmembrane transport GO:0070588 9.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2

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 RYR1 RYR2
2 voltage-gated calcium channel activity GO:0005245 9.35 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1
3 high voltage-gated calcium channel activity GO:0008331 9.32 CACNA1S CACNB1
4 calcium-induced calcium release activity GO:0048763 9.26 RYR1 RYR2
5 ryanodine-sensitive calcium-release channel activity GO:0005219 9.16 RYR1 RYR2
6 calcium channel activity GO:0005262 9.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
Sources

Sources for Malignant Hyperthermia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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