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MCID: MLG086

Malignant Hyperthermia Susceptibility malady
2 drugs, 20 genes, 2 tissues, 37 related diseases, clinical trials, genetic tests.

Summaries for Malignant Hyperthermia Susceptibility

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MalaCards: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia and myopathy. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels and Calcium signaling pathway. The drugs dantrolene sodium and dantrolene and the compounds 4-chloro-m-cresol and fluspirilene have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, skeletal muscle and b cells, and related mouse phenotypes are cardiovascular system and muscle.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

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56UMLS, 18GeneReviews, 19GeneTests
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malignant hyperthermia susceptibility 18 19
malignant hyperpyrexia due to anesthesia 56
hyperpyrexia, malignant 19
malignant hyperpyrexia 18



Related Diseases for Malignant Hyperthermia Susceptibility

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16GeneCards, 17GeneDecks
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Disease types for malignant hyperthermia susceptibility type 1 family:

malignant hyperthermia susceptibility malignant hyperthermia susceptibility type 2
malignant hyperthermia susceptibility type 3 malignant hyperthermia susceptibility type 4
malignant hyperthermia susceptibility type 5 malignant hyperthermia susceptibility type 6

Diseases related to malignant hyperthermia susceptibility via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia34.7CACNG1, RYR2, RYR1, SCN4A, PIK3C2A, CACNA1S
2myopathy28.0RYR1, SCN4A, CPT2, IL6, PIK3C2A, CACNA1S
3hyperuricemia13.5PIK3C2A
4neuroleptic malignant syndrome13.4PIK3C2A
5myasthenia gravis13.4RYR1
6coronary stenosis13.4HTR2A
7respiratory failure13.2RYR1, PIK3C2A
8sudden infant death syndrome13.1HTR2A
9myotonic dystrophy13.1RYR1, PIK3C2A
10central core myopathy13.0CACNA1S, RYR1, RYR2
11noonan syndrome12.9RYR2, RYR1, CPT2
12neuroblastoma12.9NME1
13paralysis12.8CACNA1S, SCN4A
14catecholaminergic polymorphic ventricular tachycardia12.8RYR2, RYR1
15hypokalemic periodic paralysis12.8RYR1, SCN4A, CACNA1S
16hyperkalemic periodic paralysis12.8SCN4A
17sudden cardiac death multi-gene panels12.6RYR2, HTR2A, CALR
18hypokalemia12.5SCN4A, PIK3C2A, CACNA1S
19arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels12.4ASPH, PIK3C2A, RYR1, RYR2
20congenital heart defect12.4PIK3C2A, HTR2A, RYR1, RYR2
21cystic fibrosis12.4ANXA6, IL6, HTR2A
22dmd-associated dilated cardiomyopathy12.3RYR2, RYR1, CPT2, PIK3C2A, CALR
23congestive heart failure12.1RYR2, CPT2, PIK3C2A
24malignant hyperthermia susceptibility type 18.7
25malignant hyperthermia susceptibility type 58.7
26malignant hyperthermia susceptibility type 28.3
27malignant hyperthermia susceptibility type 38.3
28malignant hyperthermia susceptibility type 48.3
29malignant hyperthermia susceptibility type 68.3
30cacna1s-related malignant hyperthermia susceptibility7.8
31mhs2-related malignant hyperthermia susceptibility7.8
32mhs3-related malignant hyperthermia susceptibility7.8
33mhs4-related malignant hyperthermia susceptibility7.8
34mhs6-related malignant hyperthermia susceptibility7.8
35ryr1-related malignant hyperthermia susceptibility7.8
36king denborough syndrome6.4
37malignant hyperthermia arthrogryposis torticollis6.4

Graphical network of the top 20 diseases related to malignant hyperthermia susceptibility:



Diseases related to malignant hyperthermia susceptibility

Symptoms for Malignant Hyperthermia Susceptibility

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Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT
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Approved drugs:

Search CenterWatch for malignant hyperthermia susceptibility

Drug clinical trials:

Search ClinicalTrials for malignant hyperthermia susceptibility

Search NIH Clinical Center for malignant hyperthermia susceptibility

Search CenterWatch for malignant hyperthermia susceptibility

Inferred drug relations via UMLS56/NDF-RT37:

Genetic Tests for Malignant Hyperthermia Susceptibility

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Anatomical Context for Malignant Hyperthermia Susceptibility

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29MalaCards
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MalaCards organs/tissues related to malignant hyperthermia susceptibility:

29
Skeletal muscle, B cells

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to malignant hyperthermia susceptibility:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
cardiovascular system phenotype
MP:00053857.6RYR1, SRL, IL6, ANXA6, CACNA2D1, CALR
2
muscle phenotype
MP:00053695.9ASPH, RYR2, RYR1, SCN4A, SRL, HTR2A

Publications for Malignant Hyperthermia Susceptibility

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47PubMed
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Articles related to malignant hyperthermia susceptibility:

(show all 26)
idTitleAuthorsYearAffiliating Genes
1Malignant hyperthermia susceptibility arising from alt ered resting coupling between the skeletal muscle L-type Ca2+ channel and the ty pe 1 ryanodine receptor. (22547813)Eltit J.M.... Allen P.D.2012CAV1
2Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. (19762757)Chen P.L.... Day Y.J.2009RYR1
3Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car af ter exposure to a high environmental temperature. (19223216)Nishio H.... Suzuki K.2009RYR1
4Epigenetic allele silencing and variable penetrance o f malignant hyperthermia susceptibility. (19454545)Robinson R.L.... Shaw M.A.2009RYR1
5No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. (18430572)Wieser T.... Kress H.G.2008CPT2
6Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. (18306019)Tanabe T.... Nishino I.2008RYR1
7Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. (16163667)Monnier N.... Lunardi J.2005CACNA1S, RYR1
8Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. (15731587)Sambuughin N.... Goldfarb L.G.2005RYR1
9Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. (15299003)Ducreux S.... Treves S.2004IL6, RYR1
10Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)Mathews K.D.... Moore S.A.2004RYR1
11Increased sensitivity of the ryanodine receptor to halothane-induced oligomerization in malignant hyperthermia-susceptible human skeletal muscle. (12959958)Glover L.... Ohlendieck K.2004CALR, RYR1, ANXA6
12Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cult ured human skeletal muscle cells. (12393358)Girard T.... Urwyler A.2002RYR1
13Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)Monnier N.... Lunardi J.2002CACNA1S, RYR1
14Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. (11389482)Sambuughin N.... Nelson T.E.2001RYR1
15B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. (11673462)Girard T.... Treves S.2001RYR1, RYR2
165-HT2 receptor antagonist-mediated inhibition of halothane-induced contractures in skeletal muscle specimens from malignant hyperthermia susceptible patients. (10551274)Wappler F.... Schulte am Esch J.1999HTR2A
17Intracellular calcium homeostasis in human primary mu scle cells from malignant hyperthermia-susceptible and normal individuals. Effe ct Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine r eceptors. (9502764)Censier K.... Treves S.1998RYR1
18Muscular enzyme level disorders and a malignant hyperthermia susceptability test: postoperative study of a patient with elevated CPK (9658790)Perugini M.... Rocchi S.1998PIK3C2A
19Malignant-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. (9199552)Monnier N.... Lunardi J.1997CACNA1S, RYR1
20Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. (9030597)Richter M.... Herrmann-Frank A.1997RYR1
21Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. (7887423)Sudbrak R.... Kozak-Ribbens G.1995MHS4
22Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. (7751854)Moroni I.... Scarlato G.1995RYR1
23Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. (7951247)Iles D.E.... Ellis F.R.1994CACNA2D1
24Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. (8395939)Sudbrak R.... Deufel T.1993CACNA1S, RYR1, NME1
25Genetic 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)Iles D.E.... Wieringa B.1993RYR1, CACNB1, CACNG1
26Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. (1427885)Levitt R.C.... Meyers D.A.1992MHS2

Variations for Malignant Hyperthermia Susceptibility

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Expression for genes affiliated with Malignant Hyperthermia Susceptibility

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia Susceptibility

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

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50Reactome, 27KEGG, 46PharmGKB, 12EMD Millipore, 48QIAGEN, 34NCBI BioSystems Database
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Pathways related to malignant hyperthermia susceptibility according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels50
9.8CACNB1, CACNA2D1
2
Calcium signaling pathway27
9.7RYR2, RYR1, HTR2A, CACNA1S
3
Celecoxib Pathway, Pharmacodynamics46
9.7CACNB1, CACNA2D1, CACNA1S
4
Transcription CREB pathway12
9.3CACNB1, CACNG1, CACNA2D1, CACNA1S
5
PKC-Theta Pathway48
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9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
6
Chemokine Signaling48
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
7
Fc-GammaR Pathway48
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
8
MAPK signaling pathway27
9.3CACNB1, CACNG1, CACNA2D1, CACNA1S
9
Androgen Signaling48
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9.1CACNA1S, CACNA2D1, CALR, CACNG1, CACNB1
10
Arrhythmogenic right ventricular cardiomyopathy (ARVC)27
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9.1RYR2, CACNA1S, CACNA2D1, CACNG1, CACNB1
11
Cardiac muscle contraction27
9.1RYR2, CACNA1S, CACNA2D1, CACNG1, CACNB1
12
NFAT and Cardiac Hypertrophy48
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9.0IL6, CACNA1S, CACNA2D1, CACNG1, CACNB1
13
G-Beta Gamma Signaling48
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9.0SCN4A, CACNA1S, CACNA2D1, CACNG1, CACNB1
14
Netrin Signaling48
8.9CACNB1, CACNG1, CACNA2D1, CACNA1S, RYR1, RYR2
15
DREAM Repression and Dynorphin Expression48
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8.9RYR2, RYR1, CACNA1S, CACNA2D1, CACNG1, CACNB1
16
Hypertrophic cardiomyopathy (HCM)27
Hide members
8.8RYR2, IL6, CACNA1S, CACNA2D1, CACNG1, CACNB1
17
Presenilin-Mediated Signaling48
8.7RYR2, RYR1, CACNA1S, CACNA2D1, CALR, CACNG1
18
Calcium Regulation in the Cardiac Cell34
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8.5RYR2, RYR1, IL6, ANXA6, CACNA1S, CALR
19
CREB Pathway48
Hide members
8.4RYR2, RYR1, HTR2A, IL6, CACNA1S, CACNA2D1
20
Activation of cAMP-Dependent PKA48
Hide members
8.4RYR2, RYR1, SCN4A, IL6, CACNA1S, CACNA2D1

Compounds for genes affiliated with Malignant Hyperthermia Susceptibility

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41Novoseek, 11DrugBank, 55Tocris Bioscience, 46PharmGKB, 22HMDB
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Compounds related to malignant hyperthermia susceptibility according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol4110.4RYR1, RYR2
2fluspirilene41 1111.2CACNG1, HTR2A
3cyclic adp-ribose4110.2RYR1, RYR2
4ibutilide41 1111.1CACNA2D1, CACNG1
5nisoldipine41 1111.1CACNA1S, CACNA2D1
6isradipine41 55 1112.1CACNA2D1, CACNA1S
7Magnesium Sulfate1110.1CACNG1, CACNA1S, CACNA2D1
8nitrendipine41 1111.0CACNA1S, CACNG1, CACNA2D1
9chloride419.9RYR1, CALR, RYR2, SCN4A
10dantrolene41 1110.8RYR2, PIK3C2A, RYR1
11nilvadipine41 1110.8CACNA1S, CACNA2D1
12halothane41 1110.8RYR1, CALR, PIK3C2A
13succinylcholine41 1110.8SCN4A, PIK3C2A, RYR1
14amlodipine41 46 11 2212.6CACNG1, CACNA2D1, CACNA1S, CACNB1
15verapamil41 46 11 2212.6CACNB1, CACNG1, RYR2, CACNA1S
16glyceraldehyde 3-phosphate419.6CALR, RYR1, NME1, ANXA6
17histidine419.5NME1, CACNA1S, SCN4A, CALR
18pyruvate419.5CALR, CPT2, NME1, PIK3C2A
19lactate419.2NME1, CPT2, PIK3C2A, CALR, IL6
20sodium41 2210.2PIK3C2A, RYR2, CALR, CACNA1S, SCN4A
21creatinine419.1CPT2, RYR1, PIK3C2A, NME1, IL6
22glutamate418.7RYR1, RYR2, PIK3C2A, CPT2, ANXA6, CALR
23lipid418.4RYR1, CPT2, IL6, PIK3C2A, ANXA6, RYR2
24ryanodine418.2RYR1, SRL, ANXA6, CALR, ASPH, CACNA1S
25dihydropyridine418.2CALR, CACNA1S, ANXA6, SRL, SCN4A, RYR1
26atp417.9SCN4A, RYR2, RYR1, SRL, CPT2, NME1
27calcium41 46 11 228.9ANXA6, CACNA2D1, CALR, CACNA1S, CACNG1, CACNB1

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

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15Gene Ontology
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Cellular components related to malignant hyperthermia susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum lumenGO:0330189.8CALR, SRL
2T-tubuleGO:0303159.4RYR1, CACNA1S, CACNA2D1, CACNB1
3sarcoplasmic reticulumGO:0165299.3CACNB1, CACNA2D1, CACNA1S, RYR1, RYR2
4voltage-gated calcium channel complexGO:0058919.3CACNA1S, CACNA2D1, CACNG1, CACNB1
5junctional sarcoplasmic reticulum membraneGO:0147018.9ASPH, RYR1, RYR2

Biological processes related to malignant hyperthermia susceptibility according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cytosolic calcium ion homeostasisGO:05148010.1RYR1, RYR2
2release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:01480810.0RYR2, RYR1
3response to caffeineGO:0310009.9RYR2, RYR1, IL6
4release of sequestered calcium ion into cytosolGO:0512099.9HTR2A, RYR1, RYR2
5cellular response to caffeineGO:0713139.8RYR1, RYR2
6calcium ion transportGO:0068169.3CACNA2D1, CACNA1S, ANXA6, RYR1, RYR2
7muscle contractionGO:0069368.8RYR1, SCN4A, CACNA1S, CACNG1, ASPH

Molecular functions related to malignant hyperthermia susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:01527810.1RYR1, RYR2
2ryanodine-sensitive calcium-release channel activityGO:00521910.0RYR2, RYR1
3high voltage-gated calcium channel activityGO:0083319.6CACNB1, CACNA1S
4voltage-gated calcium channel activityGO:0052459.1CACNB1, CACNG1, CACNA2D1, CACNA1S, RYR1

Products for genes affiliated with Malignant Hyperthermia Susceptibility

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  • Antibodies
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Sources for Malignant Hyperthermia Susceptibility

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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