MH
MCID: MLG056
MIFTS: 66

Malignant Hyperthermia (MH) malady

Summaries for Malignant Hyperthermia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 neuroleptic malignant syndrome. 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 liver, brain and kidney, 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:64 Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is... more...

Description from OMIM:47 145600,601887

Aliases & Classifications for Malignant Hyperthermia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
See all sources

Classifications:



Aliases & Descriptions:

malignant hyperthermia 8 43 22 21 10
anesthesia related hyperthermia 8 43 21
malignant hyperpyrexia due to anesthesia 8 61
malignant hyperpyrexia 43 21
mhs - malignant hyperthermia 21
fulminating hyperpyrexia 43
hyperpyrexia, malignant 21
hyperthermia, malignant 21
hyperpyrexia malignant 43
mh 43


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Disease Ontology8 DOID:8545
NCIt40 C84869
MeSH35 D008305
ICD9CM27 995.86
ICD1025 T88.3

Related Diseases for Malignant Hyperthermia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility31.7CACNA1S, RYR1
2neuroleptic malignant syndrome30.5PIK3C2A
3central core myopathy30.5RYR2, RYR1, CACNA1S
4hypokalemic periodic paralysis30.3SCN4A, CACNA1S, RYR1
5hyperkalemic periodic paralysis30.0SCN4A
6catecholaminergic polymorphic ventricular tachycardia30.0RYR2, RYR1
7serotonin syndrome30.0HTR2A
8noonan syndrome30.0RYR2, CAV1, CPT2, RYR1
9malignant hyperthermia susceptibility type 110.5
10n syndrome10.4
11malignant hyperthermia arthrogryposis torticollis10.4
12malignant hyperthermia susceptibility type 210.4
13malignant hyperthermia susceptibility type 310.4
14malignant hyperthermia susceptibility type 410.4
15malignant hyperthermia susceptibility type 510.4
16myotonia10.4
17myopathy congenital10.3
18native american myopathy10.3
19malignant hyperthermia susceptibility type 610.3
20larsen syndrome10.3
21wolf-hirschhorn syndrome10.3
22becker muscular dystrophy10.3
23wolf–hirschhorn syndrome10.3
24king denborough syndrome10.3
25smith-lemli-opitz syndrome10.2
26duchenne muscular dystrophy10.2
27multiminicore disease10.2
28congenital contractures10.2
29ryr1-related malignant hyperthermia susceptibility10.2
30mhs2-related malignant hyperthermia susceptibility10.2
31mhs3-related malignant hyperthermia susceptibility10.2
32mhs4-related malignant hyperthermia susceptibility10.2
33cacna1s-related malignant hyperthermia susceptibility10.2
34mhs6-related malignant hyperthermia susceptibility10.2
35malignant histiocytosis10.1
36coronary artery disease,10.0
37thyroid crisis10.0
38campomelic dysplasia10.0
39thomsen disease10.0
40cleft palate10.0
41yellow fever10.0
42osteogenesis imperfecta10.0
43graves' disease10.0
44riley-day syndrome10.0
45acute leukemia10.0
46aortic valve stenosis10.0
47williams syndrome10.0
48holt-oram syndrome10.0
49moebius syndrome10.0
50freeman sheldon syndrome10.0

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



Diseases related to malignant hyperthermia

Clinical Features for Malignant Hyperthermia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

145600,601887

Drugs & Therapeutics for Malignant Hyperthermia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Malignant Hyperthermia

Sources:
22GTR
See all sources

Genetic tests related to Malignant Hyperthermia:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia22

Anatomical Context for Malignant Hyperthermia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Malignant Hyperthermia:

33
Liver, Brain, Kidney, Whole blood, Cerebellum, Heart, Skeletal muscle, Thyroid, Placenta, T cells, B cells, Fetal brain, Fetal liver, Fetal thyroid

Animal Models for Malignant Hyperthermia or affiliated genes

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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.4CACNB1, ASPH, NME1, RYR1, RYR2, PIK3C2A
2MP:00053859.3ASPH, SRL, RYR1, RYR2, ANXA6, CALR
3MP:00053698.9CACNA1S, ASPH, SRL, RYR1, RYR2, ANXA6

Publications for Malignant Hyperthermia

Sources:
51PubMed
See all sources

Articles related to Malignant Hyperthermia:

(show top 50)    (show all 675)
idTitleAuthorsYear
1
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
2
Analysis of histomorphology in malignant hyperthermia-susceptible patients. (23888335)
2013
3
A suspected case of malignant hyperthermia that was successfully treated with dantrolene administration via nasogastric tube. (23115697)
2012
4
Nonanesthetic malignant hyperthermia. (21878807)
2011
5
Prevalence of malignant hyperthermia and relationship with anesthetics in Japan: data from the diagnosis procedure combination database. (21169796)
2011
6
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. (21156754)
2011
7
Succinylcholine in malignant hyperthermia: evaluation of a novel in vivo model. (21607984)
2011
8
Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model. (20944434)
2010
9
Characterization and temporal development of cores in a mouse model of malignant hyperthermia. (19966218)
2009
10
Preparation of the DrAoger Fabius anesthesia machine for the malignant-hyperthermia susceptible patient. (19020141)
2008
11
No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals. (18430572)
2008
12
Unravelling the mystery of malignant hyperthermia. (17595900)
2007
13
Delayed onset of sevoflurane-induced juvenile malignant hyperthermia after second exposure. (17972624)
2007
14
The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs. (16428544)
2006
15
Negative arterial to end-tidal carbon dioxide gradient: an additional sign of malignant hyperthermia during desflurane anesthesia. (16492834)
2006
16
Malignant hyperthermia following systemic rewarming after hypothermic cardiopulmonary bypass. (16428525)
2006
17
Malignant hyperthermia and day stay surgery. (16494148)
2006
18
The genetics of malignant hyperthermia. (16310654)
2005
19
Gene symbol: RYR1. Disease: malignant hyperthermia. (16521287)
2005
20
Gene symbol: RYR1. Disease: malignant hyperthermia. (16521284)
2005
21
A case report of malignant hyperthermia in a dental clinic operating room. (15859446)
2005
22
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. (14732627)
2004
23
Effect 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)
2004
24
Mg2+ dependence of halothane-induced Ca2+ release from the sarcoplasmic reticulum in skeletal muscle from humans susceptible to malignant hyperthermia. (15564941)
2004
25
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. (14708096)
2004
26
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. (15210166)
2004
27
Delayed onset of malignant hyperthermia in desflurane anesthesia. (12505945)
2003
28
Nitroglycerin for fetal surgery: fetoscopy and ex utero intrapartum treatment procedure with malignant hyperthermia precautions. (12598248)
2003
29
Malignant hyperthermia. (14501352)
2003
30
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
31
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. (12123492)
2002
32
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. (12066726)
2002
33
Malignant hyperthermia. (11553240)
2001
34
Prolonging viability of swine muscle biopsy specimens in malignant hyperthermia testing. (11524356)
2001
35
Malignant hyperthermia: an OR emergency! (12025057)
2000
36
Predicting malignant hyperthermia susceptibility. (9743426)
1998
37
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. (9199552)
1997
38
Malignant hyperthermia susceptibility: anaesthetic implications and risk stratification. (9093584)
1997
39
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. (8012359)
1994
40
Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. (8053891)
1994
41
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
42
Unexplained increases in serum creatine kinase levels: its relation to malignant hyperthermia susceptibility. (2018229)
1991
43
Sensitivity and specificity of tests of malignant hyperthermia susceptibility. (1854040)
1991
44
Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. (1774061)
1991
45
Muscle biopsy for diagnosis of malignant hyperthermia susceptibility in two patients with severe exercise-induced myolysis. (1997050)
1991
46
Calcium uptake in frozen muscle biopsy sections compared with other predictors of malignant hyperthermia susceptibility. (3578882)
1987
47
Masseter muscle rigidity and malignant hyperthermia susceptibility. (3942303)
1986
48
Electrophoresis of muscle proteins is not a method for diagnosis of malignant hyperthermia susceptibility. (3963453)
1986
49
Dantrolene--in vitro studies in malignant hyperthermia susceptible (MHS) and normal skeletal muscle. (6704779)
1984
50
Cardiac manifestations of malignant hyperthermia susceptibility. (699260)
1978

Genetic Variations for Malignant Hyperthermia

Expression for genes affiliated with Malignant Hyperthermia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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
Hide members
10.1RYR1, RYR2, HTR2A, CACNA1S
5
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
610.0CACNB1, CACNG1, CACNA2D1, CACNA1S
7
Hide members
10.0CACNB1, CACNG1, CACNA2D1, CACNA1S
8
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
9
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
10
Hide members
10.0CACNB1, CACNG1, CACNA2D1, CACNA1S
11
Hide members
10.0CACNA1S, CACNA2D1, CACNG1, CACNB1
12
Hide members
9.9CACNA1S, CACNA2D1, CACNG1, CALR, CACNB1
13
Hide members
9.9CACNA1S, CACNA2D1, CACNG1, CAV1, CACNB1
14
Development Ligand-independent activation of ESR1 and ESR2
Hide members
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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol4510.6RYR1, RYR2
2cyclic adp-ribose4510.6RYR1, RYR2
3Magnesium Sulfate1110.6CACNA1S, CACNA2D1, CACNG1
4succinylcholine45 29 1112.5SCN4A, PIK3C2A, RYR1
5fluspirilene29 45 1112.5CACNG1, HTR2A
6nisoldipine45 29 1112.5CACNA2D1, CACNA1S
7nitrendipine45 50 29 1113.5CACNG1, CACNA2D1, CACNA1S
8dantrolene45 29 1112.5RYR1, RYR2, PIK3C2A
9ibutilide45 1111.5CACNG1, CACNA2D1
10procaine45 29 1112.5RYR2, RYR1
11ruthenium red2910.5RYR2, RYR1
12halothane45 29 1112.5RYR1, PIK3C2A, CALR
13inositol 1,4,5 trisphosphate4510.4CAV1, CALR, RYR2, RYR1
14thapsigargin45 6011.4RYR1, RYR2, CALR, CAV1
15isradipine45 29 1112.4CACNA2D1, CACNA1S
16amlodipine45 50 11 2413.4CACNA1S, CACNA2D1, CACNG1, CACNB1
17nilvadipine45 1111.4CACNA2D1, CACNA1S
18glyceraldehyde 3-phosphate4510.4CALR, ANXA6, RYR1, NME1
19chloride4510.4RYR1, RYR2, SCN4A, CALR, CAV1
20histidine4510.4CACNA1S, CALR, SCN4A, NME1
21phosphatidylserine45 29 1112.4RYR2, ANXA6, CALR, CAV1
22pyruvate4510.4CALR, PIK3C2A, NME1, CPT2
23mg2+2910.3RYR1, RYR2
24verapamil45 50 29 11 2414.3CACNA1S, CACNG1, CAV1, CACNB1, RYR2
25fatty acid4510.3CAV1, CALR, PIK3C2A, NME1, CPT2
26ruthenium4510.3RYR2, RYR1
27gtp45 2911.2CAV1, CALR, PIK3C2A, ANXA6, NME1
28sodium45 2411.2CACNA1S, CAV1, CALR, SCN4A, PIK3C2A, RYR2
29phospholipid4510.2CAV1, ANXA6, RYR2, RYR1
30arginine4510.2CACNA1S, CAV1, CALR, SCN4A, PIK3C2A, RYR1
31dihydropyridine4510.1ASPH, CACNA1S, CALR, SCN4A, ANXA6, RYR1
32h2o4510.1RYR1, PIK3C2A
33magnesium45 11 2412.1CALR, PIK3C2A, RYR2, RYR1, NME1
34urea45 11 2412.1NME1, PIK3C2A, CALR
35ryanodine45 29 6012.1CACNA1S, CALR, ANXA6, RYR2, RYR1, SRL
36glutamate4510.1CAV1, CALR, PIK3C2A, ANXA6, RYR2, RYR1
37lipid4510.0CAV1, CALR, PIK3C2A, ANXA6, RYR2, RYR1
38atp45 2910.8CAV1, CALR, SCN4A, PIK3C2A, ANXA6, RYR2
39potassium45 11 2411.7SCN4A, PIK3C2A, RYR2, RYR1
40calcium45 50 11 2412.2CACNB1, CALR, CAV1, CACNG1, CACNA2D1, CACNA1S

GO Terms for genes affiliated with Malignant Hyperthermia

Sources:
16Gene Ontology
See all sources

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

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