MH
MCID: MLG056
MIFTS: 65

Malignant Hyperthermia (MH) malady

Summaries for Malignant Hyperthermia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Malignant hyperthermia is a severe reaction to particular drugs used during surgery and other invasive procedures. people at increased risk for this disorder are said to have malignant hyperthermia susceptibility. if given these drugs, these people may experience muscle rigidity, breakdown of muscle fibers, a high fever, increased acid levels in the blood and other tissues, and a rapid heart rate. without prompt treatment, the complications of malignant hyperthermia can be life-threatening. there are at least six forms of malignant hyperthermia susceptibility, which are associated with mutations in different genes (e.g.,  cacna1s, ryr1). the susceptibility is inherited in an autosomal dominant fashion. people with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have malignant hyperthermia susceptibility. last updated: 4/4/2011

MalaCards: Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to malignant hyperthermia susceptibility and myopathy. An important gene associated with Malignant Hyperthermia is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels and Celecoxib Pathway, Pharmacodynamics. The drugs dantrolene and dantrolene sodium and the compounds 4-chloro-m-cresol and cyclic adp-ribose have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related mouse phenotypes are mortality/aging and cardiovascular system.

Disease Ontology:8 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:21 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:63 Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is... more...

Description from OMIM:46 145600,601887

Aliases & Classifications for Malignant Hyperthermia

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:



Aliases & Descriptions:

malignant hyperthermia 8 42 22 21 10
anesthesia related hyperthermia 8 42 21
malignant hyperpyrexia due to anesthesia 8 60
malignant hyperpyrexia 42 21
mhs - malignant hyperthermia 21
fulminating hyperpyrexia 42
hyperpyrexia, malignant 21
hyperthermia, malignant 21
hyperpyrexia malignant 42
mh 42


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Disease Ontology8 DOID:8545
NCIt39 C84869
MeSH34 D008305
ICD9CM27 995.86
ICD1025 T88.3

Related Diseases for Malignant Hyperthermia

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17GeneCards, 18GeneDecks
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Diseases related to Malignant Hyperthermia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility31.8CACNA1S, RYR1
2myopathy30.8CPT2, RYR1, PIK3C2A, SCN4A, CACNA1S
3neuroleptic malignant syndrome30.5PIK3C2A
4central core myopathy30.5RYR1, RYR2, CACNA1S
5muscular dystrophy30.5SRL, PIK3C2A, CAV1
6hypokalemic periodic paralysis30.3RYR1, SCN4A, CACNA1S
7hyperkalemic periodic paralysis29.9SCN4A
8catecholaminergic polymorphic ventricular tachycardia29.9RYR1, RYR2
9noonan syndrome29.9CPT2, RYR1, RYR2, CAV1
10malignant hyperthermia susceptibility type 110.5
11malignant hyperthermia arthrogryposis torticollis10.4
12malignant hyperthermia susceptibility type 210.3
13malignant hyperthermia susceptibility type 310.3
14malignant hyperthermia susceptibility type 410.3
15malignant hyperthermia susceptibility type 510.3
16malignant hyperthermia susceptibility type 610.3
17larsen syndrome10.2
18wolf-hirschhorn syndrome10.2
19becker muscular dystrophy10.2
20native american myopathy10.2
21smith-lemli-opitz syndrome10.1
22compartment syndrome10.1
23diabetes mellitus10.1
24neuromuscular disease10.1
25multiminicore disease10.1
26king denborough syndrome10.1
27ryr1-related malignant hyperthermia susceptibility10.1
28mhs2-related malignant hyperthermia susceptibility10.1
29mhs3-related malignant hyperthermia susceptibility10.1
30mhs4-related malignant hyperthermia susceptibility10.1
31cacna1s-related malignant hyperthermia susceptibility10.1
32mhs6-related malignant hyperthermia susceptibility10.1
33malignant histiocytosis10.1
34histiocytosis10.1
35coronary artery disease10.0
36egg allergy10.0
37thyroid crisis10.0
38cerebritis10.0
39campomelic dysplasia10.0
40neuronitis10.0
41duchenne muscular dystrophy10.0
42cleft palate10.0
43yellow fever10.0
44osteogenesis imperfecta10.0
45graves' disease10.0
46riley-day syndrome10.0
47acute leukemia10.0
48aortic valve stenosis10.0
49esophagitis10.0
50leukemia10.0

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



Diseases related to malignant hyperthermia

Clinical Features for Malignant Hyperthermia

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46OMIM
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Clinical features from OMIM:

145600,601887

Drugs & Therapeutics for Malignant Hyperthermia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Malignant Hyperthermia

Drug clinical trials:

Search ClinicalTrials for Malignant Hyperthermia

Search NIH Clinical Center for Malignant Hyperthermia

Search CenterWatch for Malignant Hyperthermia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Malignant Hyperthermia

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22GTR
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Genetic tests related to Malignant Hyperthermia:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia22

Anatomical Context for Malignant Hyperthermia

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32MalaCards
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MalaCards organs/tissues related to Malignant Hyperthermia:

32
Skeletal muscle, Testes, Heart, Brain, Liver, Kidney, Cerebellum, Thyroid, B cells, Placenta

Animal Models for Malignant Hyperthermia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Malignant Hyperthermia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.4CAV1, CALR, CACNB1, SCN4A, PIK3C2A, RYR2
2MP:00053859.3CACNA2D1, CAV1, CALR, ANXA6, RYR2, RYR1
3MP:00053698.9ASPH, CACNA1S, CACNA2D1, CACNG1, CAV1, CALR

Publications for Malignant Hyperthermia

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50PubMed
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Articles related to Malignant Hyperthermia:

(show top 50)    (show all 676)
idTitleAuthorsYear
1
Case report: clearance to dive for a naval candidate with family history of malignant hyperthermia. (23957207)
2013
2
Using exome data to identify malignant hyperthermia susceptibility mutations. (24195946)
2013
3
A case of suspected malignant hyperthermia. (23983308)
2013
4
Malignant hyperthermia: turn down the heat. (22488207)
2012
5
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. (22139840)
2012
6
Malignant hyperthermia: a crisis response plan. (22720516)
2012
7
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. (22577915)
2012
8
Unusual perianesthetic malignant hyperthermia in a dog. (22309018)
2012
9
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
10
Malignant hyperthermia resolving with discontinuation of sevoflurane alone. (21804810)
2011
11
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. (23256268)
2011
12
Malignant hyperthermia in a living organ donor. (21427636)
2010
13
The role of CACNA1S in predisposition to malignant hyperthermia. (19825159)
2009
14
Scientific advances in the genetic understanding and diagnosis of malignant hyperthermia. (19185818)
2009
15
Malignant hyperthermia: a pharmacogenetic disorder. (19902883)
2009
16
Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. (19762731)
2009
17
Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia. (18505726)
2008
18
Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. (18171728)
2008
19
A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser. (19020143)
2008
20
Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: a report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United States. (18362591)
2008
21
Is there a link between malignant hyperthermia and exertional heat illness? (17261558)
2007
22
Minor increase of endtidal CO2 during sevoflurane-induced malignant hyperthermia. (17238892)
2007
23
Dysregulation of the gain of CICR through ryanodine receptor1 (RyR1): the putative mechanism underlying malignant hyperthermia. (17278373)
2007
24
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. (16732084)
2006
25
Orthotopic liver transplantation in a malignant hyperthermia susceptible patient. (16297758)
2005
26
Gene symbol: RYR1. Disease: malignant hyperthermia. (16521288)
2005
27
Spontaneous occurrence of the disposition to malignant hyperthermia. (15108991)
2004
28
Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia. (15318347)
2004
29
Malignant hyperthermia and the otolaryngologist. (12861868)
2003
30
Diagnosis of malignant hyperthermia susceptibility during CABG surgery. (12631056)
2003
31
Malignant hyperthermia: clinical features and management. (12838644)
2003
32
Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males. (12777570)
2003
33
Atypical presentation of malignant hyperthermia. (12151945)
2002
34
Severe rhabdomyolysis due to malignant hyperthermia during renal transplantation procedure can cause delayed graft function. (11919407)
2002
35
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. (12047971)
2002
36
Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). (11575546)
2001
37
Malignant hyperthermia susceptibility, an autosomal dominant disorder? (9237497)
1997
38
In vitro diagnosis of malignant hyperthermia susceptibility with ryanodine-induced contractures in human skeletal muscles. (8638796)
1996
39
Malignant hyperthermia suggestive hypermetabolic syndrome at emergence from anesthesia. (8714856)
1995
40
Creatine kinase alterations after acute malignant hyperthermia episodes and common surgical procedures. (7486044)
1995
41
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. (7829078)
1994
42
Malignant Hyperthermia Susceptibility (20301325)
1993
43
Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. (8395940)
1993
44
Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses. The North American Malignant Hyperthermia Registry. (1729931)
1992
45
Evaluation of spin resonance spectroscopy of red blood cell membranes to detect malignant hyperthermia susceptibility. (1334685)
1992
46
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. (1354642)
1992
47
Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. (1508238)
1992
48
Isolated masseter muscle spasm and increased creatine kinase without malignant hyperthermia susceptibility or other myopathies. (1416181)
1992
49
Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. (1598899)
1992
50
Microassay for malignant hyperthermia susceptibility: hypersensitive ligand-gating of the Ca channel in muscle sarcoplasmic reticulum causes increased amounts and rates of Ca-release. (2158620)
1990

Genetic Variations for Malignant Hyperthermia

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Expression for genes affiliated with Malignant Hyperthermia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia

Search GEO for disease gene expression data for Malignant Hyperthermia.

Pathways for genes affiliated with Malignant Hyperthermia

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53Reactome, 49PharmGKB, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CACNA2D1, CACNB1
210.1CACNB1, CACNA2D1, CACNA1S
310.1CACNA1S, HTR2A, RYR2, RYR1
4
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10.1RYR1, RYR2, HTR2A, CACNA1S
5
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10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
610.0CACNB1, CACNG1, CACNA2D1, CACNA1S
7
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10.0CACNB1, CACNG1, CACNA2D1, CACNA1S
8
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
9
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10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
10
Hide members
10.0CACNB1, CACNG1, CACNA2D1, CACNA1S
11
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
12
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9.9CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1
13
Hide members
9.9CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
14
Development Ligand-independent activation of ESR1 and ESR2
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9.9CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
159.9CACNA1S, CACNA2D1, CACNG1, CACNB1, RYR2
16
Hide members
9.9CACNA1S, CACNA2D1, CACNG1, CACNB1, RYR2
17
Hide members
9.8CACNA1S, CALR, CACNB1, ANXA6, RYR2, RYR1
18
Hide members
9.8CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1, SCN4A
199.8RYR1, RYR2, CACNB1, CACNG1, CACNA2D1, CACNA1S
20
Hide members
9.7CACNA1S, CACNA2D1, CACNG1, CACNB1, SCN4A, RYR2
219.7CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1, RYR2
22
Hide members
9.7CACNA1S, CACNA2D1, CACNG1, CACNB1, HTR2A, RYR2

Compounds for genes affiliated with Malignant Hyperthermia

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol4410.6RYR1, RYR2
2cyclic adp-ribose4410.6RYR1, RYR2
3Magnesium Sulfate1110.6CACNA1S, CACNA2D1, CACNG1
4succinylcholine44 28 1112.5SCN4A, PIK3C2A, RYR1
5fluspirilene28 44 1112.5CACNG1, HTR2A
6nisoldipine44 28 1112.5CACNA2D1, CACNA1S
7nitrendipine44 49 28 1113.5CACNG1, CACNA2D1, CACNA1S
8dantrolene44 28 1112.5RYR1, RYR2, PIK3C2A
9ibutilide44 1111.5CACNG1, CACNA2D1
10procaine44 28 1112.5RYR2, RYR1
11ruthenium red2810.5RYR2, RYR1
12halothane44 28 1112.5RYR1, PIK3C2A, CALR
13inositol 1,4,5 trisphosphate4410.4CAV1, CALR, RYR2, RYR1
14thapsigargin44 5911.4RYR1, RYR2, CALR, CAV1
15isradipine44 28 1112.4CACNA2D1, CACNA1S
16amlodipine44 49 11 2413.4CACNA1S, CACNA2D1, CACNG1, CACNB1
17nilvadipine44 1111.4CACNA2D1, CACNA1S
18glyceraldehyde 3-phosphate4410.4CALR, ANXA6, RYR1, NME1
19chloride4410.4RYR1, RYR2, SCN4A, CALR, CAV1
20histidine4410.4CACNA1S, CALR, SCN4A, NME1
21phosphatidylserine44 28 1112.4RYR2, ANXA6, CALR, CAV1
22pyruvate4410.4CALR, PIK3C2A, NME1, CPT2
23mg2+2810.3RYR1, RYR2
24verapamil44 49 28 11 2414.3CACNA1S, CACNG1, CAV1, CACNB1, RYR2
25fatty acid4410.3CAV1, CALR, PIK3C2A, NME1, CPT2
26ruthenium4410.3RYR2, RYR1
27gtp44 2811.2CAV1, CALR, PIK3C2A, ANXA6, NME1
28sodium44 2411.2CACNA1S, CAV1, CALR, SCN4A, PIK3C2A, RYR2
29phospholipid4410.2CAV1, ANXA6, RYR2, RYR1
30arginine4410.2CACNA1S, CAV1, CALR, SCN4A, PIK3C2A, RYR1
31dihydropyridine4410.1ASPH, CACNA1S, CALR, SCN4A, ANXA6, RYR1
32h2o4410.1RYR1, PIK3C2A
33magnesium44 11 2412.1CALR, PIK3C2A, RYR2, RYR1, NME1
34urea44 11 2412.1NME1, PIK3C2A, CALR
35ryanodine44 28 5912.1CACNA1S, CALR, ANXA6, RYR2, RYR1, SRL
36glutamate4410.1CAV1, CALR, PIK3C2A, ANXA6, RYR2, RYR1
37lipid4410.0CAV1, CALR, PIK3C2A, ANXA6, RYR2, RYR1
38atp44 2810.8CAV1, CALR, SCN4A, PIK3C2A, ANXA6, RYR2
39potassium44 11 2411.7SCN4A, PIK3C2A, RYR2, RYR1
40calcium44 49 11 2412.2CACNB1, CALR, CAV1, CACNG1, CACNA2D1, CACNA1S

GO Terms for genes affiliated with Malignant Hyperthermia

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16Gene Ontology
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Cellular components related to Malignant Hyperthermia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium channel complexGO:03470410.3ASPH, RYR2
2T-tubuleGO:03031510.2CACNA1S, CACNA2D1, CACNB1, RYR1
3sarcoplasmic reticulum lumenGO:03301810.2CALR, SRL, ASPH
4junctional sarcoplasmic reticulum membraneGO:01470110.2ASPH, RYR1, RYR2
5voltage-gated calcium channel complexGO:00589110.1CACNA1S, CACNA2D1, CACNG1, CACNB1
6sarcoplasmic reticulumGO:01652910.1RYR1, RYR2, CACNB1, CACNA2D1, CACNA1S
7sarcoplasmic reticulum membraneGO:03301710.1RYR2, RYR1, ASPH
8I bandGO:03167410.0RYR1, CACNA1S

Biological processes related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:01480810.5RYR1, RYR2
2sarcoplasmic reticulum calcium ion transportGO:07029610.4RYR2, CACNG1
3cytosolic calcium ion homeostasisGO:05148010.4RYR1, RYR2, CAV1
4cellular response to caffeineGO:07131310.4RYR2, RYR1
5release of sequestered calcium ion into cytosolGO:05120910.4HTR2A, RYR2, RYR1
6response to caffeineGO:03100010.4RYR1, RYR2
7detection of calcium ionGO:00551310.3RYR2, ASPH
8cellular calcium ion homeostasisGO:00687410.3CAV1, CALR, HTR2A, RYR2
9positive regulation of calcium ion transport into cytosolGO:01052410.3ASPH, CAV1
10positive regulation of vasoconstrictionGO:04590710.3HTR2A, CAV1
11muscle contractionGO:00693610.2CACNA1S, CACNG1, SCN4A, RYR1, ASPH
12regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:01088110.2ASPH, RYR2
13calcium ion transportGO:00681610.1RYR1, RYR2, ANXA6, CAV1, CACNA2D1, CACNA1S
14response to testosterone stimulusGO:03357410.0NME1, CALR

Molecular functions related to Malignant Hyperthermia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ryanodine-sensitive calcium-release channel activityGO:00521910.3RYR1, RYR2
2calcium-release channel activityGO:01527810.2RYR2, RYR1
3voltage-gated calcium channel activityGO:00524510.0RYR1, CACNB1, CACNG1, CACNA2D1, CACNA1S
4high voltage-gated calcium channel activityGO:0083319.9CACNB1, CACNA1S
5calcium ion bindingGO:0055099.9ASPH, RYR1, RYR2, ANXA6, CALR

Products for genes affiliated with Malignant Hyperthermia

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Sources for Malignant Hyperthermia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet