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MCID: MLG056
MIFTS: 60

Malignant Hyperthermia

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 77 54 26 30 6 45 15
Anesthesia Related Hyperthermia 12 54 26
Malignant Hyperpyrexia Due to Anesthesia 12 74
Malignant Hyperpyrexia 54 26
Mhs - Malignant Hyperthermia 26
Fulminating Hyperpyrexia 54
Hyperpyrexia, Malignant 26
Hyperthermia, Malignant 26
Hyperpyrexia Malignant 54
Pharmacogenic Myopathy 54
Malignant Fever 74
Mh 54

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: 34


External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 36 995.86
MeSH 45 D008305
NCIt 51 C84869
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Summaries for Malignant Hyperthermia

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NIH Rare Diseases : 54 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, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia is MHS2 (Malignant Hyperthermia Susceptibility 2), 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 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.

Genetics Home Reference : 26 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 : 77 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 195)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 34.2 CACNA1S RYR1
2 myopathy, congenital, bailey-bloch 33.8 CACNA1S QDPR RYR1 STAC3
3 central core disease of muscle 33.2 CACNA1S RYR1 RYR2
4 malignant hyperthermia susceptibility 32.8 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
5 neuroleptic malignant syndrome 31.1 MB PIK3C2A RYR1
6 muscle disorders 30.8 PIK3C2A RYR1 RYR2
7 hypokalemic periodic paralysis, type 1 30.3 CACNA1S QDPR RYR1 SCN4A
8 neuromuscular disease 30.3 DMD RYR1 SCN4A
9 myoglobinuria 30.3 CPT2 MB PIK3C2A
10 central core myopathy 30.2 CACNA1S QDPR RYR1 RYR2
11 periodic paralyses 30.2 CACNA1S SCN4A
12 hyperkalemic periodic paralysis 30.0 CACNA1S SCN4A
13 catecholaminergic polymorphic ventricular tachycardia 29.9 ASPH RYR1 RYR2
14 brody myopathy 29.8 DMD RYR1
15 malignant hyperthermia 1 12.8
16 malignant hyperthermia 5 12.7
17 malignant hyperthermia 2 12.6
18 malignant hyperthermia 3 12.6
19 malignant hyperthermia 4 12.6
20 malignant hyperthermia 6 12.6
21 malignant hyperthermia arthrogryposis torticollis 12.5
22 exercise-induced malignant hyperthermia 12.4
23 contractures, congenital, torticollis, and malignant hyperthermia 12.3
24 myotonia congenita 11.5
25 arthrogryposis, distal, type 2a 11.2
26 myotonia congenita, autosomal recessive 11.2
27 myoglobinuria, acute recurrent, autosomal recessive 11.2
28 myopathy 10.5
29 arrhythmogenic right ventricular dysplasia, familial, 2 10.3 RYR1 RYR2
30 hypokalemic periodic paralysis, type 2 10.3 QDPR SCN4A
31 virus associated hemophagocytic syndrome 10.3 MB PIK3C2A
32 disease of mental health 10.3
33 muscular dystrophy 10.3
34 andersen cardiodysrhythmic periodic paralysis 10.3 CACNA1S RYR2 SCN4A
35 interstitial myocarditis 10.3 MB PIK3C2A
36 familial periodic paralysis 10.2 CACNA1S QDPR RYR1 SCN4A
37 pseudohyperkalemia, familial, 2, due to red cell leak 10.2 MB PIK3C2A SCN4A
38 posterior myocardial infarction 10.2 MB PIK3C2A
39 myoglobinuria, recurrent 10.2 CPT2 DMD
40 compartment syndrome 10.2
41 rigidity and multifocal seizure syndrome, lethal neonatal 10.1
42 creatine phosphokinase, elevated serum 10.1 DMD MB PIK3C2A
43 chromosome xp21 deletion syndrome 10.1 DMD PIK3C2A
44 gas gangrene 10.1 DMD MB PIK3C2A
45 myopathy, congenital 10.1
46 muscular dystrophy, duchenne type 10.1
47 papillomatosis, confluent and reticulated 10.1
48 myositis fibrosa 10.1 MB PIK3C2A
49 arrhythmogenic right ventricular cardiomyopathy 10.1 CACNA1S DMD RYR1 RYR2
50 myopathy, tubular aggregate, 1 10.1 CASQ1 QDPR RYR1 SRL

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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

47
# 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
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 6914273 2952
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 Central Nervous System Depressants Phase 2,Not Applicable
8 Platelet Aggregation Inhibitors Phase 2
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 Analgesics
14 Neurotransmitter Agents
15 Anti-Arrhythmia Agents
16 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) 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 74 / NDF-RT 52 :


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 30
Sources

Anatomical Context for Malignant Hyperthermia

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MalaCards organs/tissues related to Malignant Hyperthermia:

42
Skeletal Muscle, Testes, Heart, Brain, Bone, Liver, Skin
Sources

Publications for Malignant Hyperthermia

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Articles related to Malignant Hyperthermia:

(show top 50) (show all 2130)
# Title Authors Year
1
Difficult airway management and suspected malignant hyperthermia in a Child with Cri Du Chat Syndrome. ( 30692897 )
2019
2
Malignant hyperthermia and dantrolene sodium. ( 29921086 )
2019
3
The use of charcoal filters in malignant hyperthermia: have they found their place? ( 30088269 )
2019
4
Malignant Hyperthermia: A Case Report in a Trauma Patient. ( 30098954 )
2019
5
Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility. ( 30142382 )
2019
6
Presumed Malignant Hyperthermia Treated During Cardiopulmonary Bypass in a Pediatric Patient Undergoing Aortic Valve Replacement: A Case Report. ( 30299295 )
2019
7
Comparison of Chlorantraniliprole and Flubendiamide Activity Toward Wild-Type and Malignant Hyperthermia-Susceptible Ryanodine Receptors and Heat Stress Intolerance. ( 30329129 )
2019
8
Association between known or strongly suspected malignant hyperthermia susceptibility and postoperative outcomes: an observational population-based study. ( 30421146 )
2019
9
Thermoregulation and markers of muscle breakdown in malignant hyperthermia susceptible volunteers during an acute heat tolerance test. ( 30503327 )
2019
10
Succinylcholine Use and Dantrolene Availability for Malignant Hyperthermia Treatment: Database Analyses and Systematic Review. ( 30550426 )
2019
11
Understanding malignant hyperthermia: each move forward opens our eyes to the distance left to travel. ( 30579410 )
2019
12
Is malignant hyperthermia associated with hyperglycaemia? ( 30579418 )
2019
13
The importance of a prepared and ready malignant hyperthermia response team. ( 30743151 )
2019
14
Consensus Statement of the Malignant Hyperthermia Association of the United States on Unresolved Clinical Questions Concerning the Management of Patients With Malignant Hyperthermia. ( 30768455 )
2019
15
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. ( 30788618 )
2019
16
Regarding Successful Laparoscopic Surgery without Neuromuscular Blockade in a Patient with Malignant Hyperthermia Susceptibility: non-depolarizing neuromuscular blocking agents, is it a trigger agent of malignant hyperthermia? ( 30790707 )
2019
17
Magnesium sulfate - An effective agent could delay the progression of fulminant malignant hyperthermia. ( 30798905 )
2019
18
Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series. ( 30805902 )
2019
19
Management of Malignant Hyperthermia in France: current organisation. ( 30807880 )
2019
20
Almost-certain malignant hyperthermia during cardiopulmonary bypass: a case report and literature review. ( 30843472 )
2019
21
New October 2018 Malignant Hyperthermia Guidelines: Is Your Emergency Department Prepared? ( 30846143 )
2019
22
Masseter muscle rigidity and the role of DNA analysis to confirm malignant hyperthermia susceptibility. ( 30864471 )
2019
23
Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals. ( 30916033 )
2019
24
Veno-venous extracorporeal membrane oxygenation in the management of malignant hyperthermia. ( 30975382 )
2019
25
Comment on "Schwartz-Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?" ( 31007664 )
2019
26
Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia. ( 31016048 )
2019
27
Malignant hyperthermia and cerebral venous sinus thrombosis following ventriculoperitoneal shunt in an infant with schizencephaly and COL4A1 mutation. ( 31029817 )
2019
28
Malignant Hyperthermia. ( 31040503 )
2019
29
Anomalous Kv 7 potassium channel activity in human Malignant Hyperthermia syndrome unmasks a key role for H2 S and persulfidation in skeletal muscle. ( 31051045 )
2019
30
Life-threatening Episodes of Malignant Hyperthermia Following Halothane Anesthesia in Three Children: A Case Series and Review of Literature. ( 31065209 )
2019
31
Malignant Hyperthermia During Sleeve Lobectomy for Resection of a Proximal Endobronchial Tumor. ( 31076299 )
2019
32
Increase in carbon dioxide removal for early diagnosis of malignant hyperthermia: A retrospective study from a large medical center in North America. ( 31108278 )
2019
33
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH): Erratum. ( 29517572 )
2018
34
Perioperative Cardiac Arrest: Focus on Malignant Hyperthermia (MH). ( 29461317 )
2018
35
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2018
36
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. ( 28902675 )
2018
37
Delayed Development of Malignant Hyperthermia Following Cardiopulmonary Bypass. ( 28922985 )
2018
38
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2018
39
The use of a checklist improves anaesthesiologists' technical and non-technical performance for simulated malignant hyperthermia management. ( 28939466 )
2018
40
Malignant Hyperthermia Versus Thyroid Storm in a Patient With Symptomatic Graves Disease: A Case Report. ( 29028638 )
2018
41
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
42
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
43
Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1). ( 29212769 )
2018
44
Voltage modulates halothane-triggered Ca2+ release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
45
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. ( 29344738 )
2018
46
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
47
Updated guide for the management of malignant hyperthermia. ( 29600483 )
2018
48
Management of a Patient With a History of Nonanesthesia-Related Malignant Hyperthermia Undergoing Laparoscopic Cholecystectomy: A Case Report. ( 29608462 )
2018
49
Cost-benefit Analysis of Maintaining a Fully Stocked Malignant Hyperthermia Cart versus an Initial Dantrolene Treatment Dose for Maternity Units. ( 29672336 )
2018
50
Malignant Hyperthermia: Review of Diagnosis and Treatment during Cardiac Surgery with Cardiopulmonary Bypass. ( 29730239 )
2018
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 rs1553247295 GRCh37 Chromosome 1, 201009092: 201009092
28 CACNA1S NM_000069.2(CACNA1S): c.5489C> G (p.Thr1830Arg) single nucleotide variant Uncertain significance rs1553247295 GRCh38 Chromosome 1, 201039964: 201039964
29 CACNA1S NM_000069.2(CACNA1S): c.5417T> C (p.Phe1806Ser) single nucleotide variant Uncertain significance rs1553247334 GRCh37 Chromosome 1, 201009164: 201009164
30 CACNA1S NM_000069.2(CACNA1S): c.5417T> C (p.Phe1806Ser) single nucleotide variant Uncertain significance rs1553247334 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 20)
# Super pathways Score Top Affiliating Genes
1
CREB Pathway 65
Show member pathways
 13.19 CACNA1S CACNA2D1 CACNB1 CACNG1 QDPR RYR1
2
Aldosterone synthesis and secretion 38
Show member pathways
 12.83 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
3
Vascular smooth muscle contraction 38
Show member pathways
 12.61 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
4
Cardiac conduction 67
Show member pathways
 12.54 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 DMD
5
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.4 CACNA1S CACNB1 CASQ1 RYR1 RYR2
6
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 38
Show member pathways
 12.34 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR2
7
DREAM Repression and Dynorphin Expression 65
Show member pathways
 12.33 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR1
8
Development Ligand-independent activation of ESR1 and ESR2 23
Show member pathways
 12.17 CACNA1S CACNA2D1 CACNB1 CACNG1
9
Dilated cardiomyopathy (DCM) 38
Show member pathways
 12.13 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR2
10
Fc-GammaR Pathway 65
Show member pathways
 11.91 CACNA1S CACNA2D1 CACNB1 CACNG1
11
Presenilin-Mediated Signaling 65
11.89 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
12
Cardiac muscle contraction 38
11.72 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
13
Phase 0 - rapid depolarisation 67
Show member pathways
 11.64 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
14
G-protein signaling_RhoA regulation pathway 23
11.58 CACNA1S CACNA2D1 CACNB1 CACNG1
15
Celecoxib Pathway, Pharmacodynamics 62
11.48 CACNA1S CACNA2D1 CACNB1
16
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.43 CACNA1S CACNA2D1 CACNB1 CACNG1
17
G-protein signaling_Cross-talk between Ras-family GTPases 23
11.26 CACNA1S CACNA2D1 CACNB1 CACNG1
18
Netrin Signaling 65
11.12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
19
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.7 RYR1 RYR2
20
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 62
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 13)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.76 CASQ1 DMD RYR1 RYR2
2 T-tubule GO:0030315 9.65 CACNA1S CACNA2D1 CACNG1 CASQ1 RYR1
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 voltage-gated calcium channel complex GO:0005891 9.55 CACNA1S CACNA2D1 CACNB1 CACNG1 STAC3
7 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNA1S CACNA2D1 CACNG1
8 calcium channel complex GO:0034704 9.52 RYR1 RYR2
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.51 RYR1 RYR2
10 sarcoplasmic reticulum lumen GO:0033018 9.49 CASQ1 SRL
11 terminal cisterna GO:0014802 9.48 CASQ1 RYR1
12 sarcoplasmic reticulum GO:0016529 9.43 ASPH CACNA2D1 CASQ1 RYR1 RYR2 SRL
13 sarcolemma GO:0042383 9.17 CACNB1 CACNG1 CASQ1 DMD RYR1 RYR2

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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