MCID: MLG086
MIFTS: 44

Malignant Hyperthermia Susceptibility malady

Summaries for Malignant Hyperthermia Susceptibility

About this section
Sources:
19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 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 testes, skeletal muscle and liver, and related mouse phenotypes are digestive/alimentary and adipose tissue.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

About this section
Sources:
19GeneReviews, 20GeneTests, 22GTR, 60UMLS
See all sources

Aliases & Descriptions:

malignant hyperthermia susceptibility 19 20 22
malignant hyperpyrexia due to anesthesia 60
malignant hyperpyrexia 19


Related Diseases for Malignant Hyperthermia Susceptibility

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
Ryr1-Related Malignant Hyperthermia Susceptibility Mhs2-Related Malignant Hyperthermia Susceptibility
Mhs3-Related Malignant Hyperthermia Susceptibility Mhs4-Related Malignant Hyperthermia Susceptibility
Cacna1s-Related Malignant Hyperthermia Susceptibility Mhs6-Related Malignant Hyperthermia Susceptibility

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia31.9CACNA1S, CACNG1, SCN4A, PIK3C2A, RYR1
2myopathy30.8CPT2, PIK3C2A, SCN4A, CACNA1S, RYR1
3central core myopathy30.5CACNA1S, RYR1
4neuroleptic malignant syndrome30.4PIK3C2A
5muscular dystrophy30.2SRL, PIK3C2A, CAV1
6malignant hyperthermia susceptibility type 110.5
7malignant hyperthermia susceptibility type 210.5
8malignant hyperthermia susceptibility type 310.5
9malignant hyperthermia susceptibility type 410.5
10malignant hyperthermia susceptibility type 510.5
11malignant hyperthermia susceptibility type 610.4
12ryr1-related malignant hyperthermia susceptibility10.3
13mhs2-related malignant hyperthermia susceptibility10.3
14mhs3-related malignant hyperthermia susceptibility10.3
15mhs4-related malignant hyperthermia susceptibility10.3
16cacna1s-related malignant hyperthermia susceptibility10.3
17mhs6-related malignant hyperthermia susceptibility10.3
18neuronitis10.1
19osteogenesis imperfecta10.1
20motor neuron disease10.1
21placenta praevia10.1
22mitochondrial disorders10.1
23multiminicore disease10.1
24king denborough syndrome10.1
25neuroblastoma10.0NME1
26myasthenia gravis10.0RYR1
27hyperkalemic periodic paralysis10.0SCN4A
28hyperuricemia10.0PIK3C2A
29coronary stenosis10.0HTR2A
30myotonic dystrophy10.0PIK3C2A, RYR1
31hypokalemic periodic paralysis10.0CACNA1S, SCN4A, RYR1
32myositis10.0PIK3C2A, RYR1
33hypokalemia10.0SCN4A, PIK3C2A, CACNA1S
34cystic fibrosis10.0ANXA6, CAV1, HTR2A
35dilated cardiomyopathy10.0RYR1, CPT2, CALR, PIK3C2A
36respiratory failure10.0IL6, PIK3C2A, RYR1
37insulin resistance10.0HTR2A, IL6, CPT2
38congenital heart defect10.0PIK3C2A, RYR1, HTR2A
39diabetes mellitus10.0IL6, PIK3C2A, CALR
40alzheimer's disease10.0ANXA6, RYR1, HTR2A, CALR, CAV1, IL6

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



Diseases related to malignant hyperthermia susceptibility

Clinical Features for Malignant Hyperthermia Susceptibility

About this section

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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 UMLS60/NDF-RT40:

Genetic Tests for Malignant Hyperthermia Susceptibility

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility20 22 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

32
Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. (23923663)
2013
2
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. (23476141)
2013
3
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. (22431093)
2012
4
3,4-Methylenedioxymethamphetamine (Ecstasy) increases the sensitivity of the contractile apparatus to calcium ions in both malignant hyperthermia-susceptible and normal skeletal muscle fibres. (22089516)
2012
5
Comparison of the therapeutic effectiveness of a dantrolene sodium solution and a novel nanocrystalline suspension of dantrolene sodium in malignant hyperthermia normal and susceptible pigs. (21513076)
2011
6
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. (21376345)
2011
7
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. (23256268)
2011
8
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
9
Intramuscular injection of malignant hyperthermia trigger agents induces hypermetabolism in susceptible and nonsusceptible individuals. (19809329)
2010
10
Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature. (19223216)
2009
11
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. (18306019)
2008
12
Effects of azumolene on normal and malignant hyperthermia-susceptible skeletal muscle. (18047479)
2008
13
Epidural anesthetic management using ropivacaine in a parturient with multi-minicore disease and susceptibility to malignant hyperthermia. (17285432)
2007
14
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families. (17710899)
2007
15
4-chloro-m-cresol cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. (15281512)
2004
16
Similar susceptibility to halothane, caffeine and ryanodine in vitro reflects pharmacogenetic variability of malignant hyperthermia. (14977348)
2004
17
Mg2+ dependence of halothane-induced Ca2+ release from the sarcoplasmic reticulum in skeletal muscle from humans susceptible to malignant hyperthermia. (15564941)
2004
18
Molecular genetic testing for malignant hyperthermia susceptibility. (15114203)
2004
19
Increased sensitivity of the ryanodine receptor to halothane-induced oligomerization in malignant hyperthermia-susceptible human skeletal muscle. (12959958)
2004
20
The ryanodine contracture test may help diagnose susceptibility to malignant hyperthermia. (12944436)
2003
21
Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test. (12047971)
2002
22
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. (12059893)
2002
23
Reproducibility of in vitro contracture test results in patients tested for malignant hyperthermia susceptibility. (12366511)
2002
24
Divergent effects of the malignant hyperthermia-susceptible Arg(615)-->Cys mutation on the Ca(2+) and Mg(2+) dependence of the RyR1. (11566777)
2001
25
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility. (11525882)
2001
26
Multiple interacting gene products may influence susceptibility to malignant hyperthermia. (11415515)
2000
27
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility. (10625004)
2000
28
Structural and functional characteristics of muscle fibres in pigs with different malignant hyperthermia susceptibility (MHS) and different meat quality. (22062927)
1999
29
Muscular enzyme level disorders and a malignant hyperthermia susceptability test: postoperative study of a patient with elevated CPK]. (9658790)
1998
30
Results of in vitro contracture tests for the diagnosis of malignant hyperthermia susceptibility in monozygote twins. (9241333)
1997
31
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. (9030597)
1997
32
Propofol and malignant hyperthermia susceptibility. (9352778)
1997
33
Malignant hyperthermia susceptibility: anaesthetic implications and risk stratification. (9093584)
1997
34
C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response. (7633940)
1995
35
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
36
Phenotypes associated with malignant hyperthermia susceptibility in swine genotyped as homozygous or heterozygous for the ryanodine receptor mutation. (8398525)
1993
37
Pathological findings in 165 patients explored for malignant hyperthermia susceptibility. (8186710)
1993
38
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. (1427885)
1992
39
Should all children with suspected or confirmed malignant hyperthermia susceptibility be admitted after surgery? A 10-year review. (1510254)
1992
40
Evaluation of spin resonance spectroscopy of red blood cell membranes to detect malignant hyperthermia susceptibility. (1334685)
1992
41
Sensitivity and specificity of tests of malignant hyperthermia susceptibility. (1854040)
1991
42
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-q13.2. (2379741)
1990
43
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. (2300206)
1990
44
Identify malignant hyperthermia susceptibility to avert life-threatening episodes. (2605774)
1989
45
Calcium uptake in frozen muscle biopsy sections compared with other predictors of malignant hyperthermia susceptibility. (3578882)
1987
46
Static v. dynamic tests in the in vitro diagnosis of malignant hyperthermia susceptibility. (3707802)
1986
47
Malignant hyperthermia susceptibility in X-linked muscle dystrophies. (3508709)
1986
48
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? (4096721)
1985
49
Screening for malignant hyperthermia susceptibility. (6930029)
1980
50
Malignant hyperthermia susceptibility. Management during pregnancy and labour. (426240)
1979

Genetic Variations for Malignant Hyperthermia Susceptibility

About this section

Expression for genes affiliated with Malignant Hyperthermia Susceptibility

About this section
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

About this section
Sources:
53Reactome, 49PharmGKB, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 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
Hide members
9.0CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
13
Hide members
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

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
See all sources

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

(show all 30)
idCompoundScoreTop Affiliating Genes
1nisoldipine44 28 1112.2CACNA1S, CACNA2D1
2fluspirilene28 44 1112.1CACNG1, HTR2A
3nilvadipine44 1111.0CACNA2D1, CACNA1S
4Magnesium Sulfate1110.0CACNG1, CACNA2D1, CACNA1S
5ibutilide44 1111.0CACNG1, CACNA2D1
6nitrendipine44 49 28 1113.0CACNA1S, CACNA2D1, CACNG1
7chloride449.9CAV1, CALR, SCN4A, RYR1
8succinylcholine44 28 1111.8RYR1, PIK3C2A, SCN4A
9histidine449.8NME1, SCN4A, CALR, CACNA1S
10halothane44 28 1111.8CALR, PIK3C2A, RYR1
11glyceraldehyde 3-phosphate449.7CALR, ANXA6, RYR1, NME1
12isradipine44 28 1111.7CACNA2D1, CACNA1S
13dantrolene44 28 1111.7PIK3C2A, RYR1
14verapamil44 49 28 11 2413.6CACNA1S, CACNG1, CAV1, CACNB1
15amlodipine44 49 11 2412.6CACNA1S, CACNA2D1, CACNG1, CACNB1
16pyruvate449.6CPT2, NME1, PIK3C2A, CALR
17fatty acid449.4CAV1, CALR, PIK3C2A, NME1, CPT2
18lactate449.3CPT2, NME1, IL6, PIK3C2A, CALR
19sodium44 2410.3CACNA1S, CAV1, CALR, SCN4A, PIK3C2A
20creatinine449.3CPT2, NME1, RYR1, IL6, PIK3C2A
21arginine449.2RYR1, PIK3C2A, SCN4A, CALR, CAV1, CACNA1S
22gtp44 2810.1NME1, ANXA6, PIK3C2A, CALR, CAV1
23ryanodine44 28 5911.1CACNA1S, CALR, ANXA6, RYR1, SRL, ASPH
24norepinephrine44 11 2411.1RYR1, IL6, PIK3C2A, HTR2A
25dihydropyridine448.9ASPH, CACNA1S, CALR, SCN4A, ANXA6, RYR1
26glucose448.9CPT2, RYR1, IL6, PIK3C2A, CALR, CAV1
27glutamate448.9CAV1, CALR, PIK3C2A, ANXA6, RYR1, CPT2
28lipid448.6CAV1, CALR, PIK3C2A, ANXA6, IL6, RYR1
29atp44 289.1CAV1, CALR, SCN4A, PIK3C2A, ANXA6, RYR1
30calcium44 49 11 249.6CACNB1, CALR, CAV1, CACNG1, CACNA2D1, CACNA1S

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Malignant Hyperthermia Susceptibility

About this section
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