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MH
MCID: MLG056
MIFTS: 66

Malignant Hyperthermia (MH)

Categories: Bone diseases, Cancer 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 74 20 43 29 6 44 15
Anesthesia Related Hyperthermia 12 20 43 6
Malignant Hyperpyrexia Due to Anesthesia 12 71
Malignant Hyperthermia of Anesthesia 20 58
Hyperthermia of Anesthesia 20 58
Malignant Hyperpyrexia 20 43
Fulminating Hyperpyrexia 20
Hyperpyrexia, Malignant 43
Hyperthermia, Malignant 43
Hyperpyrexia Malignant 20
Pharmacogenic Myopathy 20
Malignant Fever 71
Mhs 43
Mh 20

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 34 995.86
MeSH 44 D008305
NCIt 50 C84869
SNOMED-CT 67 111738008
ICD10 32 T88.3
MESH via Orphanet 45 D008305
ICD10 via Orphanet 33 T88.3
UMLS via Orphanet 72 C0024591
Orphanet 58 ORPHA423
UMLS 71 C0024591 C2930828
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Summaries for Malignant Hyperthermia

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MedlinePlus Genetics : 43 Malignant hyperthermia is a severe reaction to particular anesthetic 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, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate and body temperature (hyperthermia), abnormally fast breathing, muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). Without prompt treatment and cessation of the drugs, the body's reaction can cause multiple organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be life-threatening. (In medicine, the term malignant refers to conditions that are dangerous to one's health.)People at increased risk of this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they have a severe reaction to anesthesia during a surgical procedure or they undergo testing (for instance, if susceptibility is suspected because a family member had a severe reaction). Malignant hyperthermia may not occur every time anesthesia is used. Many individuals who develop a severe reaction have previously been exposed to a triggering drug and not had a reaction.Affected individuals may be at increased risk for "awake" malignant hyperthermia, in which the severe reaction occurs in response to physical activity, often while sick, rather than in reaction to exposure to a triggering drug.While malignant hyperthermia often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with malignant hyperthermia susceptibility.

MalaCards based summary : Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to malignant hyperthermia 1 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 Cardiac conduction. The drugs Halothane and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and kidney, and related phenotypes are fever and malignant hyperthermia

Disease Ontology : 12 A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.

GARD : 20 Malignant hyperthermia (MH) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). Without prompt treatment, MH can be life-threatening. People who are at increased risk for this reaction are said to have MH susceptibility. Susceptibility to MH may be caused by mutations in any of several genes and is inherited in an autosomal dominant manner. People with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have MH susceptibility.

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

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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
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 314)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 1 33.5 SLC6A8 RYR1
2 myopathy, congenital, bailey-bloch 33.3 STAC3 RYR1 CACNA1S
3 central core disease of muscle 33.1 RYR2 RYR1 CACNA1S
4 malignant hyperthermia susceptibility 32.7 STAC3 SLC6A8 SCN4A RYR1 MHS6 MHS4
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 32.0 RYR1 CPT2 CACNA1S
6 myopathy 31.8 STAC3 SCN4A RYR2 RYR1 PIK3C2A MB
7 neuroleptic malignant syndrome 31.7 RYR1 PIK3C2A MB
8 myoglobinuria 31.5 PIK3C2A MB CPT2
9 muscular dystrophy 31.4 SRL SCN4A RYR2 RYR1 PIK3C2A MB
10 neuromuscular disease 31.4 STAC3 SCN4A RYR2 RYR1 MB CACNA1S
11 cardiac arrest 31.3 RYR2 PIK3C2A CACNA2D1
12 acute kidney failure 31.2 PIK3C2A MB CPT2
13 central core myopathy 31.1 STAC3 RYR2 RYR1 QDPR CASQ1 CACNA1S
14 hypokalemic periodic paralysis, type 1 31.1 STAC3 SCN4A RYR1 QDPR CACNG1 CACNA1S
15 hyperkalemic periodic paralysis 31.0 SCN4A RYR1 CACNA1S
16 compartment syndrome 30.9 PIK3C2A MB
17 paramyotonia congenita of von eulenburg 30.6 SCN4A RYR1 CACNA1S
18 isolated elevated serum creatine phosphokinase levels 30.6 SCN4A RYR2 RYR1 PIK3C2A MB CPT2
19 catecholaminergic polymorphic ventricular tachycardia 30.6 RYR2 RYR1 CASQ1 CACNA2D1 ASPH
20 skeletal muscle disease 30.5 RYR1 CASQ1
21 periodic paralyses 30.5 SCN4A CACNA1S
22 muscular disease 30.5 RYR1 PIK3C2A MB
23 brody myopathy 30.4 STAC3 SRL RYR1 CASQ1
24 congenital fiber-type disproportion 30.4 STAC3 RYR1 CACNA1S
25 multiple pterygium syndrome, escobar variant 30.4 STAC3 RYR1 CACNB1
26 myositis 30.4 RYR1 PIK3C2A MB
27 graves disease 1 30.4 SCN4A CACNA1S
28 brugada syndrome 30.2 SCN4A RYR2 CACNA2D1 CACNA1S
29 hypertrophic cardiomyopathy 30.1 RYR2 PIK3C2A MB CACNB1 CACNA2D1
30 anuria 29.9 PIK3C2A MB
31 malignant hyperthermia 5 11.8
32 stac3 disorder 11.7
33 malignant hyperthermia 2 11.6
34 malignant hyperthermia 4 11.6
35 malignant hyperthermia 3 11.6
36 malignant hyperthermia 6 11.6
37 malignant hyperthermia arthrogryposis torticollis 11.5
38 multiminicore disease 11.4
39 arthrogryposis, distal, type 2a 11.3
40 contractures, congenital, torticollis, and malignant hyperthermia 11.3
41 exercise-induced malignant hyperthermia 11.2
42 myotonia congenita 11.1
43 rare disease with malignant hyperthermia 11.1
44 myotonia congenita, autosomal recessive 11.1
45 myoglobinuria, acute recurrent, autosomal recessive 11.0
46 congenital disorder of glycosylation, type it 11.0
47 metabolic acidosis 10.6
48 capillary malformations, congenital 10.5 RYR2 RYR1 CACNA1S
49 congenital structural myopathy 10.5 RYR2 RYR1 CACNA1S
50 glycogen storage disease v 10.5 RYR1 MB CPT2

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



Diseases related to Malignant Hyperthermia
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Symptoms & Phenotypes for Malignant Hyperthermia

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Human phenotypes related to Malignant Hyperthermia:

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

UMLS symptoms related to Malignant Hyperthermia:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ASPH CACNA1S CACNA2D1 CPT2 MB PIK3C2A
2 homeostasis/metabolism MP:0005376 9.77 ASPH CACNA1S CACNA2D1 CASQ1 CPT2 MB
3 muscle MP:0005369 9.44 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 CASQ1
Sources

Drugs & Therapeutics for Malignant Hyperthermia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Halothane Approved, Vet_approved 151-67-7 3562
2
Caffeine Approved 58-08-2 2519
3 Immunoglobulins
4 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
2 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
3 Population at Risk of Malignant Hyperthermia: Ambispective Cohort. Recruiting NCT04287556
4 Study of the Neuromuscular and Multisystem Features of Patients With Malignant Hyperthermia or Rhabdomyolysis Related to RYR1 Variants Recruiting NCT04610619
5 Study on Gene Mutation Spectrum of Malignant Hyperthermia in China Based on the Establishment of Bioinformatics Database Recruiting NCT04474860
6 Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration Active, not recruiting NCT03964870
7 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Not yet recruiting NCT02561598
8 Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry Terminated NCT02964481
9 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Dantrolene
Dantrolene Sodium

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
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Anatomical Context for Malignant Hyperthermia

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MalaCards organs/tissues related to Malignant Hyperthermia:

40
Skeletal Muscle, Heart, Kidney, Brain, Thyroid, Pituitary, Skin
Sources

Publications for Malignant Hyperthermia

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Articles related to Malignant Hyperthermia:

(show top 50) (show all 3676)
# Title Authors PMID Year
1
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 6 61
14732627 2004
2
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. 6 61
12220451 2002
3
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 6 61
11741831 2001
4
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 6 61
11389482 2001
5
Malignant hyperthermia and apparent heat stroke. 61 6
11448278 2001
6
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. 61 6
11260227 2001
7
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 61 6
11063719 2000
8
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. 6 61
10888602 2000
9
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. 61 6
9831351 1998
10
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6 61
9497245 1998
11
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 61 6
9543323 1998
12
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 61 6
9450902 1998
13
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. 61 6
9520251 1997
14
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. 61 6
9199552 1997
15
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. 6 61
9106529 1997
16
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 61 6
9030597 1997
17
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 6 61
8661021 1996
18
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 61 6
8828983 1996
19
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6 61
8592342 1995
20
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 61 6
7586638 1995
21
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. 61 6
7762556 1995
22
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 6 61
7554356 1995
23
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 6 61
7889656 1994
24
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 61 6
7849712 1994
25
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 6 61
7829078 1994
26
The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. 61 6
7511586 1994
27
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 6 61
8012359 1994
28
No C1840 to T mutation in RYR1 in malignant hyperthermia. 6 61
8401544 1993
29
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 61 6
1354642 1992
30
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. 6 61
1639409 1992
31
DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. 61 6
1329581 1992
32
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 6 61
1774073 1991
33
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 6 61
1774074 1991
34
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 61 6
1862346 1991
35
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
36
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 6
10097181 1999
37
Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM. 61
33547325 2021
38
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia. 61
32919876 2021
39
[The European Malignant Hyperthermia Group consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients]. 61
33269407 2021
40
Unravelling the unseen metabolic changes in patients with malignant hyperthermia. 61
33532996 2021
41
Molecular Modification of Transient Receptor Potential Canonical 6 Channels Modulates Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia. 61
33301562 2021
42
Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report. 61
33577170 2021
43
Beneficial effects of dantrolene in the treatment of rhabdomyolysis as a potential late complication associated with COVID-19: a case report. 61
33557936 2021
44
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. 61
33564012 2021
45
Louis Ombrédanne, a founding member of SICOT. 61
33559691 2021
46
Effects of Remimazolam and Propofol on Ca2+ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation. 61
33490280 2021
47
Postoperative Hyperthermia and Hemodynamic Instability in a Suspected Malignant Hyperthermia-Susceptible Patient: A Case Report. 61
33512902 2021
48
Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the European Malignant Hyperthermia Group. 61
33131754 2021
49
Untargeted metabolomics profiling of skeletal muscle samples from malignant hyperthermia susceptible patients. 61
33403543 2021
50
Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists. 61
33399225 2021
Sources

Variations for Malignant Hyperthermia

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ClinVar genetic disease variations for Malignant Hyperthermia:

6 (show top 50) (show all 1068)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) SNV Pathogenic 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
2 RYR1 NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) SNV Pathogenic 133182 rs193922802 19:38990295-38990295 19:38499655-38499655
3 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
4 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) SNV Pathogenic 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
5 RYR1 NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) SNV Pathogenic 133026 rs193922842 19:39034461-39034461 19:38543821-38543821
6 CACNA1S NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) SNV Pathogenic 473964 rs762294904 1:201047123-201047123 1:201077995-201077995
7 CACNA1S NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) SNV Pathogenic 17623 rs28930068 1:201022666-201022666 1:201053538-201053538
8 CACNA1S NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) SNV Pathogenic 17625 rs80338777 1:201047043-201047043 1:201077915-201077915
9 CACNA1S NM_000069.3(CACNA1S):c.564del (p.Ile189fs) Deletion Pathogenic 541039 rs1553252746 1:201060898-201060898 1:201091770-201091770
10 CACNA1S NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) Deletion Pathogenic 567517 rs1558071742 1:201046079-201046079 1:201076951-201076951
11 CACNA1S NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) SNV Pathogenic 504167 rs201998231 1:201061139-201061139 1:201092011-201092011
12 CACNA1S NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) SNV Pathogenic 17624 rs28930069 1:201022667-201022667 1:201053539-201053539
13 RYR1 NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) SNV Pathogenic 133183 rs193922803 19:38990310-38990310 19:38499670-38499670
14 RYR1 NM_000540.2(RYR1):c.10347+1G>A SNV Pathogenic 224998 rs111436401 19:39013756-39013756 19:38523116-38523116
15 RYR1 NM_000540.2(RYR1):c.10348-6C>G SNV Pathogenic 132994 rs193922837 19:39013851-39013851 19:38523211-38523211
16 RYR1 NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) SNV Pathogenic 161361 rs377178986 19:39034060-39034060 19:38543420-38543420
17 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
18 RYR1 NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) SNV Pathogenic 65980 rs118192122 19:38991283-38991283 19:38500643-38500643
19 RYR1 NM_000540.3(RYR1):c.5995del (p.Arg1999fs) Deletion Pathogenic 637046 rs1600787461 19:38980895-38980895 19:38490255-38490255
20 CACNA1S NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) SNV Pathogenic 641633 rs563795648 1:201020200-201020200 1:201051072-201051072
21 CACNA1S NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) SNV Pathogenic 643605 rs1572035834 1:201031155-201031155 1:201062027-201062027
22 CACNA1S NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) SNV Pathogenic 649853 rs1572059904 1:201058389-201058389 1:201089261-201089261
23 CACNA1S NM_000069.3(CACNA1S):c.732del (p.Cys245fs) Deletion Pathogenic 646905 rs1558079311 1:201058554-201058554 1:201089426-201089426
24 CACNA1S NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) Deletion Pathogenic 656431 rs1572038993 1:201035007-201035007 1:201065879-201065879
25 CACNA1S NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) SNV Pathogenic 402469 rs550371466 1:201010662-201010662 1:201041534-201041534
26 CACNA1S NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) SNV Pathogenic 665684 rs1572048220 1:201044724-201044724 1:201075596-201075596
27 CACNA1S NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) Deletion Pathogenic 665842 rs1572019465 1:201012583-201012586 1:201043455-201043458
28 RYR1 NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) SNV Pathogenic 12982 rs63749869 19:39071080-39071080 19:38580440-38580440
29 CACNA1S NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) SNV Pathogenic 17630 rs80338779 1:201035411-201035411 1:201066283-201066283
30 RYR1 NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) SNV Pathogenic 12984 rs118192168 19:39071043-39071043 19:38580403-38580403
31 CACNA1S NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) Deletion Pathogenic 848766 1:201012510-201012510 1:201043382-201043382
32 CACNA1S NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) SNV Pathogenic 856306 1:201022609-201022609 1:201053481-201053481
33 CACNA1S NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) Deletion Pathogenic 862482 1:201031099-201031100 1:201061971-201061972
34 CACNA1S NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) SNV Pathogenic 854887 1:201081449-201081449 1:201112321-201112321
35 SLC6A8 NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) SNV Pathogenic 975971 X:152960203-152960203 X:153694748-153694748
36 RYR1 NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) SNV Pathogenic 983140 19:38942483-38942483 19:38451843-38451843
37 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
38 CACNA1S NM_000069.3(CACNA1S):c.3414+3A>T SNV Pathogenic 381082 rs892742196 1:201029783-201029783 1:201060655-201060655
39 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) SNV Pathogenic 133202 rs193922816 19:38991282-38991282 19:38500642-38500642
40 RYR1 NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) SNV Pathogenic/Likely pathogenic 133144 rs193922781 19:38976478-38976478 19:38485838-38485838
41 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic/Likely pathogenic 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
42 RYR1 NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) SNV risk factor 12974 rs118192163 19:38985205-38985205 19:38494565-38494565
43 RYR1 NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) SNV risk factor 12973 rs118192175 19:38985204-38985204 19:38494564-38494564
44 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) SNV Likely pathogenic 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
45 RYR1 NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) SNV risk factor 12976 rs118192176 19:38985219-38985219 19:38494579-38494579
46 RYR1 NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) SNV risk factor 12993 rs118192162 19:38945999-38945999 19:38455359-38455359
47 RYR1 NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) SNV risk factor 12985 rs193922826 19:38994959-38994959 19:38504319-38504319
48 RYR1 NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) Microsatellite risk factor 133180 rs121918596 19:38990285-38990287 19:38499645-38499647
49 RYR1 NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) SNV risk factor 12979 rs118192167 19:39070644-39070644 19:38580004-38580004
50 RYR1 NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) SNV risk factor 12978 rs121918595 19:39070734-39070734 19:38580094-38580094
Sources

Expression for Malignant Hyperthermia

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

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
CREB Pathway 63
Show member pathways
 13.19 RYR2 RYR1 QDPR CACNG1 CACNB1 CACNA2D1
2
Cardiac conduction 65
Show member pathways
 12.7 SCN4A RYR2 RYR1 CACNG1 CACNB1 CACNA2D1
3
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.55 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.44 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
5
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.41 RYR2 RYR1 CASQ1 CACNB1 CACNA1S
6
Oxytocin signaling pathway 36
Show member pathways
 12.34 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
7
Calcium signaling pathway 36
12.27 RYR2 RYR1 CASQ1 CACNA1S ASPH
8
Development Ligand-independent activation of ESR1 and ESR2 23
Show member pathways
 12.18 CACNG1 CACNB1 CACNA2D1 CACNA1S
9
Dilated cardiomyopathy 36
Show member pathways
 12.12 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
10
Arrhythmogenic right ventricular cardiomyopathy 36 1
12.02 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
11
Fc-GammaR Pathway 63
Show member pathways
 11.93 CACNG1 CACNB1 CACNA2D1 CACNA1S
12
Presenilin-Mediated Signaling 63
11.89 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
13
Phase 0 - rapid depolarisation 65
Show member pathways
 11.59 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
14
G-protein signaling_RhoA regulation pathway 23
11.58 CACNG1 CACNB1 CACNA2D1 CACNA1S
15
Cardiac muscle contraction 36
11.57 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S ASPH
16
Celecoxib Pathway, Pharmacodynamics 60
11.49 CACNB1 CACNA2D1 CACNA1S
17
Netrin Signaling 63
11.12 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.69 RYR2 RYR1
19
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.1 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
Sources

GO Terms for Malignant Hyperthermia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.3 STAC3 SRL SLC6A8 SCN4A RYR2 RYR1
2 sarcolemma GO:0042383 9.73 STAC3 RYR2 RYR1 CASQ1 CACNG1 CACNB1
3 T-tubule GO:0030315 9.72 STAC3 CASQ1 CACNG1 CACNA2D1 CACNA1S
4 Z disc GO:0030018 9.71 RYR2 RYR1 CASQ1
5 calcium channel complex GO:0034704 9.67 RYR2 RYR1 ASPH
6 smooth endoplasmic reticulum GO:0005790 9.65 RYR2 RYR1 CASQ1
7 I band GO:0031674 9.63 RYR1 CASQ1 CACNA1S
8 L-type voltage-gated calcium channel complex GO:1990454 9.61 CACNG1 CACNA2D1 CACNA1S
9 sarcoplasmic reticulum lumen GO:0033018 9.58 SRL CASQ1 ASPH
10 sarcoplasmic reticulum membrane GO:0033017 9.55 SRL RYR2 RYR1 CASQ1 ASPH
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.54 RYR2 RYR1 ASPH
12 terminal cisterna GO:0014802 9.51 RYR1 CASQ1
13 voltage-gated calcium channel complex GO:0005891 9.35 STAC3 CACNG1 CACNB1 CACNA2D1 CACNA1S
14 sarcoplasmic reticulum GO:0016529 9.1 SRL RYR2 RYR1 CASQ1 CACNA2D1 ASPH

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 SLC6A8 SCN4A RYR2 RYR1 CACNA1S
2 ion transport GO:0006811 9.86 SLC6A8 SCN4A RYR2 RYR1 CACNG1 CACNB1
3 ion transmembrane transport GO:0034220 9.85 RYR2 RYR1 CASQ1 ASPH
4 regulation of ion transmembrane transport GO:0034765 9.85 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
5 regulation of cardiac conduction GO:1903779 9.73 RYR2 RYR1 CASQ1 ASPH
6 cardiac conduction GO:0061337 9.67 CACNG1 CACNB1 CACNA2D1 CACNA1S
7 skeletal muscle fiber development GO:0048741 9.58 STAC3 RYR1
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.58 RYR2 ASPH
9 cellular response to caffeine GO:0071313 9.58 RYR2 RYR1 CACNA1S
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.57 CASQ1 ASPH
11 muscle contraction GO:0006936 9.55 SLC6A8 SCN4A RYR1 CACNA1S ASPH
12 calcium ion transport into cytosol GO:0060402 9.54 RYR2 CACNA2D1
13 detection of calcium ion GO:0005513 9.52 RYR2 ASPH
14 response to caffeine GO:0031000 9.51 RYR2 RYR1
15 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.5 CACNG1 CACNB1 CACNA2D1
16 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.49 RYR2 RYR1
17 sarcoplasmic reticulum calcium ion transport GO:0070296 9.48 RYR2 CACNG1
18 calcium ion transport GO:0006816 9.43 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
19 calcium ion transmembrane transport GO:0070588 9.17 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 ion channel activity GO:0005216 9.67 SCN4A RYR2 RYR1 CACNA1S
2 voltage-gated ion channel activity GO:0005244 9.55 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
3 calcium-release channel activity GO:0015278 9.43 RYR2 RYR1
4 high voltage-gated calcium channel activity GO:0008331 9.4 CACNB1 CACNA1S
5 voltage-gated calcium channel activity GO:0005245 9.35 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
6 calcium-induced calcium release activity GO:0048763 9.32 RYR2 RYR1
7 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR2 RYR1
8 calcium channel activity GO:0005262 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
Sources

Sources for Malignant Hyperthermia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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