MCID: MLG056
MIFTS: 59

Malignant Hyperthermia

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Malignant Hyperthermia

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:



External Ids:

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

Summaries for Malignant Hyperthermia

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 native american myopathy, 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 Cardiac conduction. 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 genetic 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...

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

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 34.6 CACNA1S RYR1
2 native american myopathy 33.9 CACNA1S QDPR RYR1 STAC3
3 central core disease of muscle 33.4 CACNA1S RYR1 RYR2
4 malignant hyperthermia susceptibility 31.1 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
5 neuroleptic malignant syndrome 31.0 MB PIK3C2A RYR1
6 periodic paralyses 30.7 CACNA1S SCN4A
7 hypokalemic periodic paralysis, type 1 30.5 CACNA1S QDPR RYR1 SCN4A
8 hyperkalemic periodic paralysis 30.4 CACNA1S SCN4A
9 central core myopathy 30.2 CACNA1S QDPR RYR1 RYR2
10 myoglobinuria 30.0 CPT2 MB PIK3C2A
11 catecholaminergic polymorphic ventricular tachycardia 30.0 ASPH RYR1 RYR2
12 brody myopathy 29.7 DMD RYR1
13 neuromuscular disease 29.5 DMD LAMA2 RYR1 SCN4A
14 myopathy 28.1 CASQ1 CPT2 DMD LAMA2 MB PIK3C2A
15 malignant hyperthermia 1 12.6
16 malignant hyperthermia 5 12.4
17 malignant hyperthermia 2 12.4
18 malignant hyperthermia 3 12.4
19 malignant hyperthermia 4 12.4
20 malignant hyperthermia 6 12.4
21 malignant hyperthermia arthrogryposis torticollis 12.3
22 exercise-induced malignant hyperthermia 12.2
23 contractures, congenital, torticollis, and malignant hyperthermia 12.1
24 arthrogryposis, distal, type 2a 11.0
25 myoglobinuria, acute recurrent, autosomal recessive 11.0
26 arrhythmogenic right ventricular dysplasia, familial, 2 10.8 RYR1 RYR2
27 hypokalemic periodic paralysis, type 2 10.7 QDPR SCN4A
28 virus associated hemophagocytic syndrome 10.7 MB PIK3C2A
29 interstitial myocarditis 10.6 MB PIK3C2A
30 myopathy, tubular aggregate, 1 10.6 CASQ1 QDPR RYR1
31 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.6 MB PIK3C2A RYR1
32 muscle disorders 10.6 PIK3C2A RYR1 RYR2
33 posterior myocardial infarction 10.4 MB PIK3C2A
34 familial periodic paralysis 10.4 CACNA1S QDPR RYR1 SCN4A
35 pseudohyperkalemia, familial, 2, due to red cell leak 10.4 MB PIK3C2A SCN4A
36 graves disease 1 10.4 CACNA1S SCN4A
37 chromosome xp21 deletion syndrome 10.4 DMD PIK3C2A
38 myoglobinuria, recurrent 10.3 CPT2 DMD
39 gas gangrene 10.3 DMD MB PIK3C2A
40 isolated hyperckemia 10.3 DMD LAMA2
41 cardiomyopathy, dilated, 1b 10.2 DMD LAMA2
42 muscular dystrophy, congenital, 1b 10.2 DMD LAMA2
43 arrhythmogenic right ventricular cardiomyopathy 10.2 CACNA1S DMD RYR1 RYR2
44 myositis 10.2 DMD MB PIK3C2A
45 rigid spine muscular dystrophy 1 10.1 DMD LAMA2 RYR1
46 cardiac arrest 10.1
47 muscular dystrophy 10.0
48 muscular dystrophy, congenital merosin-deficient, 1a 10.0 DMD LAMA2
49 myotonia 10.0
50 myositis fibrosa 10.0 MB PIK3C2A

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, 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 DMD CACNA1S LAMA2 MB PIK3C2A
2 behavior/neurological MP:0005386 10.16 DMD CACNA1S LAMA2 CACNA2D1 CACNB1 PIK3C2A
3 growth/size/body region MP:0005378 10.14 ASPH DMD CACNA1S LAMA2 MB CASQ1
4 cardiovascular system MP:0005385 10.13 ASPH DMD CACNA1S CACNA2D1 MB PIK3C2A
5 mortality/aging MP:0010768 10.07 CPT2 ASPH DMD CACNA1S LAMA2 CACNB1
6 muscle MP:0005369 9.97 ASPH DMD CACNA1S LAMA2 CACNA2D1 CACNB1
7 limbs/digits/tail MP:0005371 9.8 ASPH DMD CACNA1S CACNB1 STAC3 RYR1
8 respiratory system MP:0005388 9.5 CPT2 DMD CACNA1S MB STAC3 RYR1
9 skeleton MP:0005390 9.23 CPT2 DMD CACNA1S LAMA2 CACNB1 QDPR

Drugs & Therapeutics for Malignant Hyperthermia

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

(show all 17)
# 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 Neuromuscular Agents Phase 2
5 Peripheral Nervous System Agents Phase 2
6 Central Nervous System Depressants Phase 2,Not Applicable
7 Anesthetics, General Phase 2,Not Applicable
8 Anesthetics, Inhalation Phase 2,Not Applicable
9 Platelet Aggregation Inhibitors Phase 2
10
Halothane Approved, Vet_approved 151-67-7 3562
11
Menthol Approved 2216-51-5 16666
12
Adenosine Approved, Investigational 58-61-7 60961
13
Caffeine Approved, Nutraceutical 58-08-2 2519
14 Analgesics
15 Neurotransmitter Agents
16 Anti-Arrhythmia Agents
17 Vasodilator Agents

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) Not yet 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

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, Liver, Thyroid, B Cells

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 960)
# Title Authors Year
1
Management of a Patient With a History of Nonanesthesia-Related Malignant Hyperthermia Undergoing Laparoscopic Cholecystectomy: A Case Report. ( 29608462 )
2018
2
Cost-benefit Analysis of Maintaining a Fully Stocked Malignant Hyperthermia Cart versus an Initial Dantrolene Treatment Dose for Maternity Units. ( 29672336 )
2018
3
Dantrolene and Malignant Hyperthermia Carts: Do We Need Them on Maternity Units? ( 29847427 )
2018
4
Voltage modulates halothane-triggered Ca<sup>2+</sup>release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
5
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. ( 29344738 )
2018
6
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
7
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
8
Malignant hyperthermia and Dantrolene sodium. ( 29921086 )
2018
9
Myotoxicity of local anesthetics is equivalent in individuals with and without predisposition to malignant hyperthermia. ( 29938387 )
2018
10
TRPV1 variants impair intracellular Ca<sup>2+</sup> signaling and may confer susceptibility to malignant hyperthermia. ( 29930394 )
2018
11
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
12
Malignant Hyperthermia: Review of Diagnosis and Treatment during Cardiac Surgery with Cardiopulmonary Bypass. ( 29730239 )
2018
13
A comprehensive review of malignant hyperthermia: Preventing further fatalities in orthopedic surgery. ( 29881197 )
2018
14
Dantrolene : From Malignant Hyperthermia to Alzheimer's Disease. ( 29921212 )
2018
15
Updated guide for the management of malignant hyperthermia. ( 29600483 )
2018
16
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
17
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH): Erratum. ( 29517572 )
2018
18
Using eye tracking technology to compare the effectiveness of malignant hyperthermia cognitive aid design. ( 29760370 )
2018
19
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH). ( 29461317 )
2018
20
The use of a checklist improves anaesthesiologists' technical and non-technical performance for simulated malignant hyperthermia management. ( 28939466 )
2017
21
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
22
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
23
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. ( 28259615 )
2017
24
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
25
Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy. ( 28303866 )
2017
26
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
27
Schwartz-Jampel syndrome is not related to malignant hyperthermia. ( 29457076 )
2017
28
Prevalence of malignant hyperthermia diagnosis in hospital discharge records in California, Florida, New York, and Wisconsin. ( 28494877 )
2017
29
Incidence of malignant hyperthermia in patients undergoing general anesthesia: Protocol for a systematic review and meta-analysis. ( 29245345 )
2017
30
Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. ( 28465322 )
2017
31
Malignant Hyperthermia Versus Thyroid Storm in a Patient With Symptomatic Graves Disease: A Case Report. ( 29028638 )
2017
32
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
33
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings. ( 28430550 )
2017
34
Confusing Terminology-Neuroleptic Malignant Syndrome vs Malignant Hyperthermia. ( 28558090 )
2017
35
Delayed Development of Malignant Hyperthermia Following Cardiopulmonary Bypass. ( 28922985 )
2017
36
Keeping Cool When Things Heat Up During a Malignant Hyperthermia Crisis. ( 28987207 )
2017
37
Dantrolene requires Mg(2+) to arrest malignant hyperthermia. ( 28373535 )
2017
38
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. ( 28403410 )
2017
39
The use of activated charcoal filters in anaesthetic circuits in suspected malignant hyperthermia. ( 29047129 )
2017
40
Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. ( 29101530 )
2017
41
Suspected Malignant Hyperthermia in the Setting of Hypothermic Circulatory Arrest for Type A Aortic Dissection Repair: A Case Report. ( 28079659 )
2017
42
Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore. ( 29355282 )
2017
43
Simulation-Based Training: Malignant Hyperthermia. ( 28755668 )
2017
44
Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. ( 28687594 )
2017
45
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis. ( 29137581 )
2017
46
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
47
Mind the magnesium, in dantrolene suppression of malignant hyperthermia. ( 28442565 )
2017
48
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
49
Successful early application of extracorporeal membrane oxygenation to support cardiopulmonary resuscitation for a patient suffering from severe malignant hyperthermia and cardiac arrest: a case report. ( 28580087 )
2017
50
Administration of anaesthetic triggering agents to patients tested malignant hyperthermia normal and their relatives in New Zealand: an update. ( 28911291 )
2017

Variations for Malignant Hyperthermia

ClinVar genetic disease variations for Malignant Hyperthermia:

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

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 CACNA1S CACNA2D1 CACNB1 CACNG1 QDPR RYR1
2
Show member pathways
12.64 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 DMD
3
Show member pathways
12.59 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
4
Show member pathways
12.41 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR1
5
Show member pathways
12.4 CACNA1S CACNB1 CASQ1 RYR1 RYR2
6
Show member pathways
12.27 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD LAMA2
7
Show member pathways
12.16 CACNA1S CACNA2D1 CACNB1 CACNG1
8 12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
9
Show member pathways
11.94 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD LAMA2
10
Show member pathways
11.91 CACNA1S CACNA2D1 CACNB1 CACNG1
11 11.75 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
12
Show member pathways
11.71 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
13 11.46 CACNA1S CACNA2D1 CACNB1
14 11.12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
15 10.85 DMD LAMA2
16 10.67 RYR1 RYR2
17 10.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1

GO Terms for Malignant Hyperthermia

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 9.73 CASQ1 DMD RYR1 RYR2
2 T-tubule GO:0030315 9.62 CACNA1S CACNA2D1 CASQ1 RYR1
3 smooth endoplasmic reticulum GO:0005790 9.58 CASQ1 RYR1 RYR2
4 sarcoplasmic reticulum membrane GO:0033017 9.56 ASPH CASQ1 RYR1 RYR2
5 sarcoplasmic reticulum GO:0016529 9.55 ASPH CACNA2D1 CASQ1 RYR1 RYR2
6 I band GO:0031674 9.54 CACNA1S CASQ1 RYR1
7 calcium channel complex GO:0034704 9.51 RYR1 RYR2
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.49 RYR1 RYR2
9 L-type voltage-gated calcium channel complex GO:1990454 9.48 CACNA1S CACNA2D1
10 terminal cisterna GO:0014802 9.46 CASQ1 RYR1
11 voltage-gated calcium channel complex GO:0005891 9.35 CACNA1S CACNA2D1 CACNB1 CACNG1 STAC3
12 sarcolemma GO:0042383 9.23 CACNA1S CACNB1 CASQ1 DMD LAMA2 RYR1

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 9.98 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
2 ion transmembrane transport GO:0034220 9.85 ASPH CASQ1 RYR1 RYR2 SCN4A
3 regulation of ion transmembrane transport GO:0034765 9.8 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
4 regulation of cardiac conduction GO:1903779 9.67 ASPH CASQ1 RYR1 RYR2
5 cardiac conduction GO:0061337 9.62 CACNA1S CACNA2D1 CACNB1 CACNG1
6 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.59 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 9.58 DMD RYR2
9 calcium ion transport into cytosol GO:0060402 9.57 CACNA2D1 RYR2
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.56 CASQ1 DMD
11 response to caffeine GO:0031000 9.55 RYR1 RYR2
12 muscle contraction GO:0006936 9.55 ASPH CACNA1S CACNG1 RYR1 SCN4A
13 regulation of voltage-gated calcium channel activity GO:1901385 9.54 CACNB1 DMD
14 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.52 CACNA2D1 CACNB1
15 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.51 RYR1 RYR2
16 sarcoplasmic reticulum calcium ion transport GO:0070296 9.49 CACNG1 RYR2
17 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.48 CASQ1 DMD
18 cellular response to caffeine GO:0071313 9.43 CACNA1S RYR1 RYR2
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 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR1 RYR2
5 calcium-induced calcium release activity GO:0048763 9.16 RYR1 RYR2
6 calcium channel activity GO:0005262 9.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2

Sources for Malignant Hyperthermia

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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