MCID: MLG086
MIFTS: 41

Malignant Hyperthermia Susceptibility malady

Summaries for Malignant Hyperthermia Susceptibility

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19GeneReviews, 33MalaCards
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MalaCards: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia and central core 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 Celecoxib Pathway, Pharmacodynamics. The drugs dantrolene and dantrolene sodium and the compounds nisoldipine and fluspirilene have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and t cells, and related mouse phenotypes are digestive/alimentary and adipose tissue.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

Sources:
19GeneReviews, 20GeneTests, 22GTR, 61UMLS
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Aliases & Descriptions:

malignant hyperthermia susceptibility 19 20 22
malignant hyperpyrexia due to anesthesia 61
malignant hyperpyrexia 19


Related Diseases for Malignant Hyperthermia Susceptibility

Sources:
17GeneCards, 18GeneDecks
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Diseases in the 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia31.9RYR1, CACNA1S, CACNG1, SCN4A, PIK3C2A
2central core myopathy30.6CACNA1S, RYR1
3neuroleptic malignant syndrome30.4PIK3C2A
4malignant hyperthermia susceptibility type 110.5
5malignant hyperthermia susceptibility type 210.5
6malignant hyperthermia susceptibility type 310.5
7malignant hyperthermia susceptibility type 410.5
8malignant hyperthermia susceptibility type 510.5
9malignant hyperthermia susceptibility type 610.5
10n syndrome10.3
11ryr1-related malignant hyperthermia susceptibility10.3
12mhs2-related malignant hyperthermia susceptibility10.3
13mhs3-related malignant hyperthermia susceptibility10.3
14mhs4-related malignant hyperthermia susceptibility10.3
15cacna1s-related malignant hyperthermia susceptibility10.3
16mhs6-related malignant hyperthermia susceptibility10.3
17duchenne muscular dystrophy10.2
18osteogenesis imperfecta10.2
19multiminicore disease10.2
20myopathy congenital10.2
21carnitine palmitoyltransferase i deficiency , muscle10.2
22rippling muscle disease10.2
23sleep apnea10.2
24sle susceptibility10.2
25king denborough syndrome10.1
26neuroblastoma10.0NME1
27myasthenia gravis10.0RYR1
28hyperkalemic periodic paralysis10.0SCN4A
29hyperuricemia10.0PIK3C2A
30coronary stenosis10.0HTR2A
31myotonic dystrophy10.0RYR1, PIK3C2A
32hypokalemic periodic paralysis10.0RYR1, SCN4A, CACNA1S
33myositis10.0RYR1, PIK3C2A
34hypokalemia10.0CACNA1S, SCN4A, PIK3C2A
35cystic fibrosis10.0CAV1, HTR2A, ANXA6
36dilated cardiomyopathy10.0CPT2, RYR1, PIK3C2A, CALR
37myopathy10.0CACNA1S, SCN4A, PIK3C2A, RYR1, CPT2
38respiratory failure10.0RYR1, IL6, PIK3C2A
39muscular dystrophy10.0SRL, PIK3C2A, CAV1
40insulin resistance10.0CPT2, IL6, HTR2A
41congenital heart defect10.0HTR2A, PIK3C2A, RYR1
42diabetes mellitus10.0IL6, PIK3C2A, CALR
43alzheimer's disease10.0CAV1, CALR, HTR2A, ANXA6, IL6, RYR1

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



Diseases related to malignant hyperthermia susceptibility

Clinical Features for Malignant Hyperthermia Susceptibility

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Malignant Hyperthermia Susceptibility

Sources:
20GeneTests, 22GTR
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Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility20 22 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

Sources:
33MalaCards
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MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

33
Skeletal muscle, T cells

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2ASPH, RYR1, IL6, HTR2A, CAV1, CACNA1S
2MP:00053758.7CACNA1S, CAV1, PIK3C2A, IL6, RYR1
3MP:00053858.0CACNA2D1, CAV1, CALR, ANXA6, IL6, RYR1
4MP:00053696.7ASPH, CACNA1S, CACNA2D1, CACNG1, CAV1, CALR

Publications for Malignant Hyperthermia Susceptibility

Sources:
51PubMed
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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. (23460944)
2013
2
Exertional heat stroke, rhabdomyolysis and susceptibility to malignant hyperthermia. (24004393)
2013
3
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. (22030266)
2012
4
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. (22547813)
2012
5
In-vitro contracture testing for susceptibility to malignant hyperthermia: can halothane be replaced? (20827211)
2011
6
Lymphocyte-based determination of susceptibility to malignant hyperthermia: a pilot study in swine. (20823761)
2010
7
Central core disease and susceptibility to malignant hyperthermia in a single family. (19252784)
2009
8
The myotonias and susceptibility to malignant hyperthermia. (19762732)
2009
9
Molecular genetic testing to diagnose malignant hyperthermia susceptibility. (18502356)
2008
10
Genetics and susceptibility to malignant hyperthermia. (19047693)
2008
11
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
12
Epidural anesthetic management using ropivacaine in a parturient with multi-minicore disease and susceptibility to malignant hyperthermia. (17285432)
2007
13
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families. (17710899)
2007
14
Perinatal diagnosis of malignant hyperthermia susceptibility. (16732128)
2006
15
Malignant hyperthermia susceptibility and the trauma patient. (16001602)
2005
16
Malignant hyperthermia susceptibility revealed by increased serum creatine kinase concentrations during statin treatment. (15318472)
2004
17
Molecular genetic testing for malignant hyperthermia susceptibility. (15114203)
2004
18
Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia. (12694155)
2003
19
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)
2002
20
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. (12047971)
2002
21
"Noninvasive" testing for malignant hyperthermia susceptibility. (12411783)
2002
22
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. (11573677)
2001
23
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. (11389482)
2001
24
Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)
2000
25
Shortening velocity of skeletal muscle from humans with malignant hyperthermia susceptibility: effects of halothane. (10657553)
2000
26
Comparison between the European and North American protocols for diagnosis of malignant hyperthermia susceptibility in humans. (10320187)
1999
27
How carefully can we phenotype patients suspected of malignant hyperthermia susceptibility? (10078661)
1999
28
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. (8828983)
1996
29
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. (7554356)
1995
30
Malignant Hyperthermia Susceptibility (20301325)
1993
31
Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy. (8489056)
1993
32
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
33
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
34
Evaluation of spin resonance spectroscopy of red blood cell membranes to detect malignant hyperthermia susceptibility. (1334685)
1992
35
Isolated masseter muscle spasm and increased creatine kinase without malignant hyperthermia susceptibility or other myopathies. (1416181)
1992
36
Prospects for the diagnosis of malignant hyperthermia susceptibility using molecular genetic approaches. (1599089)
1992
37
Altered [3H]ryanodine binding is not associated with malignant hyperthermia susceptibility in terminal cisternae preparations from swine. (1877993)
1991
38
Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. (1774061)
1991
39
A blinded comparison of noninvasive, in vivo phosphorus nuclear magnetic resonance spectroscopy and the in vitro halothane/caffeine contracture test in the evaluation of malignant hyperthermia susceptibility. (1984374)
1991
40
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2321777)
1990
41
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. (2300206)
1990
42
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2393153)
1990
43
Porcine malignant hyperthermia susceptibility: halothane-induced increase in cytoplasmic free calcium in lymphocytes. (2919818)
1989
44
Malignant hyperthermia susceptibility in neuroleptic malignant syndrome. (3605730)
1987
45
Malignant hyperthermia susceptibility: cardiac histomorphometry of dogs and young and market-weight swine. (3567752)
1987
46
Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)
1986
47
Static v. dynamic tests in the in vitro diagnosis of malignant hyperthermia susceptibility. (3707802)
1986
48
Malignant hyperthermia susceptibility in X-linked muscle dystrophies. (3508709)
1986
49
Electrocardiographic abnormalities associated with malignant hyperthermia susceptibility. (7069330)
1982
50
Cardiac manifestations of malignant hyperthermia susceptibility. (699260)
1978

Genetic Variations for Malignant Hyperthermia Susceptibility

Expression for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia Susceptibility

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

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
54Reactome, 50PharmGKB, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CACNA2D1, CACNB1
29.6CACNB1, CACNA2D1, CACNA1S
3
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
4
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
5
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
6
Hide members
9.3CACNA1S, CACNA2D1, CACNG1, CACNB1
79.3CACNB1, CACNG1, CACNA2D1, CACNA1S
8
Hide members
9.3CACNB1, CACNG1, CACNA2D1, CACNA1S
99.3CACNB1, CACNG1, CACNA2D1, CACNA1S
109.1RYR1, CACNB1, CACNG1, CACNA2D1, CACNA1S
11
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1
12
Development Ligand-independent activation of ESR1 and ESR2
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9.0CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
13
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9.0CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
14
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
15
Hide members
9.0IL6, CACNB1, CACNG1, CACNA2D1, CACNA1S
16
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
17
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CACNB1, IL6
188.9CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1, RYR1
19
Hide members
8.8CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1, SCN4A
20
Hide members
8.8CACNA1S, CALR, CACNB1, ANXA6, IL6, RYR1
21
Hide members
8.6CACNA1S, CACNA2D1, CACNG1, CACNB1, SCN4A, IL6
22
Hide members
8.6CACNA1S, CACNA2D1, CACNG1, CACNB1, HTR2A, IL6

Compounds for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience
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Compounds related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1nisoldipine45 29 1112.2CACNA1S, CACNA2D1
2fluspirilene29 45 1112.1CACNG1, HTR2A
3nilvadipine45 1111.0CACNA2D1, CACNA1S
4Magnesium Sulfate1110.0CACNG1, CACNA2D1, CACNA1S
5ibutilide45 1111.0CACNG1, CACNA2D1
6nitrendipine45 50 29 1113.0CACNA1S, CACNA2D1, CACNG1
7chloride459.9CAV1, CALR, SCN4A, RYR1
8succinylcholine45 29 1111.8RYR1, PIK3C2A, SCN4A
9histidine459.8NME1, SCN4A, CALR, CACNA1S
10halothane45 29 1111.8CALR, PIK3C2A, RYR1
11glyceraldehyde 3-phosphate459.7CALR, ANXA6, RYR1, NME1
12isradipine45 29 1111.7CACNA2D1, CACNA1S
13dantrolene45 29 1111.7PIK3C2A, RYR1
14verapamil45 50 29 11 2413.6CACNA1S, CACNG1, CAV1, CACNB1
15amlodipine45 50 11 2412.6CACNA1S, CACNA2D1, CACNG1, CACNB1
16pyruvate459.6CPT2, NME1, PIK3C2A, CALR
17fatty acid459.4CAV1, CALR, PIK3C2A, NME1, CPT2
18lactate459.3CPT2, NME1, IL6, PIK3C2A, CALR
19sodium45 2410.3CACNA1S, CAV1, CALR, SCN4A, PIK3C2A
20creatinine459.3CPT2, NME1, RYR1, IL6, PIK3C2A
21arginine459.2RYR1, PIK3C2A, SCN4A, CALR, CAV1, CACNA1S
22gtp45 2910.1NME1, ANXA6, PIK3C2A, CALR, CAV1
23ryanodine45 29 6011.1CACNA1S, CALR, ANXA6, RYR1, SRL, ASPH
24norepinephrine45 11 2411.1RYR1, IL6, PIK3C2A, HTR2A
25dihydropyridine458.9ASPH, CACNA1S, CALR, SCN4A, ANXA6, RYR1
26glucose458.9CPT2, RYR1, IL6, PIK3C2A, CALR, CAV1
27glutamate458.9CAV1, CALR, PIK3C2A, ANXA6, RYR1, CPT2
28lipid458.6CAV1, CALR, PIK3C2A, ANXA6, IL6, RYR1
29atp45 299.1CAV1, CALR, SCN4A, PIK3C2A, ANXA6, RYR1
30calcium45 50 11 249.6CACNB1, CALR, CAV1, CACNG1, CACNA2D1, CACNA1S

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

Sources:
16Gene Ontology
See all sources

Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1junctional sarcoplasmic reticulum membraneGO:01470110.1ASPH, RYR1
2T-tubuleGO:0303159.5CACNA1S, CACNA2D1, CACNB1, RYR1
3sarcoplasmic reticulumGO:0165299.4CACNA1S, CACNA2D1, CACNB1, RYR1
4voltage-gated calcium channel complexGO:0058919.3CACNB1, CACNA1S, CACNA2D1, CACNG1
5sarcoplasmic reticulum lumenGO:0330189.2ASPH, SRL, CALR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to testosterone stimulusGO:03357410.1NME1, CALR
2response to caffeineGO:03100010.0RYR1, IL6
3positive regulation of calcium ion transport into cytosolGO:0105249.9ASPH, CAV1
4cellular calcium ion homeostasisGO:0068749.9CAV1, CALR, HTR2A
5cytosolic calcium ion homeostasisGO:0514809.8RYR1, CAV1
6muscle contractionGO:0069369.4CACNA1S, CACNG1, SCN4A, RYR1, ASPH
7calcium ion transportGO:0068169.3RYR1, ANXA6, CAV1, CACNA2D1, CACNA1S

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

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:0083319.9CACNB1, CACNA1S
2voltage-gated calcium channel activityGO:0052458.8RYR1, CACNB1, CACNG1, CACNA2D1, CACNA1S

Products for genes affiliated with Malignant Hyperthermia Susceptibility

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Sources for Malignant Hyperthermia Susceptibility

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet