MH
MCID: MLG056
MIFTS: 64

Malignant Hyperthermia (MH) malady

Genetic diseases, Rare diseases categories
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Summaries for Malignant Hyperthermia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Malignant hyperthermia (mh) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. signs and symptoms of mh include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). without prompt treatment, mh can be life-threatening. people who are at increased risk for this reaction are said to have mh susceptibility. susceptibility to mh may be caused by mutations in any of several genes and is inherited in an autosomal dominant manner. people with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have mh susceptibility. last updated: 6/30/2014

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 CACNA1S (calcium channel, voltage-dependent, L type, alpha 1S subunit), and among its related pathways are Netrin Signaling and Androgen Signaling. The drugs dantrolene and dantrolene sodium and the compounds nifedipine and succinylcholine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related mouse phenotypes are limbs/digits/tail and muscle.

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:65 Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is... more...

Description from OMIM:47 601887,145600

Aliases & Classifications for Malignant Hyperthermia

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 47OMIM, 58SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

malignant hyperthermia 8 43 22 21 10
anesthesia related hyperthermia 8 43 21
malignant hyperpyrexia due to anesthesia 8 62
malignant hyperpyrexia 43 21
mhs - malignant hyperthermia 21
fulminating hyperpyrexia 43
hyperpyrexia, malignant 21
hyperthermia, malignant 21
pharmacogenic myopathy 43
hyperpyrexia malignant 43
mh 43


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Disease Ontology8 DOID:8545
ICD9CM27 995.86
MeSH35 D008305
NCIt40 C84869
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 92)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility31.9RYR1, CACNA1S
2myopathy30.8SCN4A, CPT2, CACNA1S, RYR1
3central core myopathy30.4CACNA1S, RYR1
4hypokalemic periodic paralysis30.4SCN4A, CACNA1S, RYR1
5neuromuscular disease30.3SCN4A, RYR1
6malignant hyperthermia susceptibility type 110.5
7malignant hyperthermia arthrogryposis torticollis10.4
8neuroleptic malignant syndrome10.4
9muscular dystrophy10.4
10malignant hyperthermia susceptibility type 210.4
11malignant hyperthermia susceptibility type 310.4
12malignant hyperthermia susceptibility type 410.4
13malignant hyperthermia susceptibility type 510.4
14myotonia10.4
15malignant hyperthermia susceptibility type 610.3
16native american myopathy10.3
17becker muscular dystrophy10.3
18larsen syndrome10.3
19wolf-hirschhorn syndrome10.3
20king denborough syndrome10.3
21smith-lemli-opitz syndrome10.2
22compartment syndrome10.2
23diabetes mellitus10.2
24congenital contractures10.2
25ryr1-related malignant hyperthermia susceptibility10.2
26mhs2-related malignant hyperthermia susceptibility10.2
27mhs3-related malignant hyperthermia susceptibility10.2
28mhs4-related malignant hyperthermia susceptibility10.2
29cacna1s-related malignant hyperthermia susceptibility10.2
30mhs6-related malignant hyperthermia susceptibility10.2
31malignant histiocytosis10.1
32histiocytosis10.1
33hypokalemia10.0CACNA1S, SCN4A
34obstructive sleep apnea10.0
35neuronitis10.0
36cleft palate10.0
37yellow fever10.0
38riley-day syndrome10.0
39egg allergy10.0
40thyroid crisis10.0
41cerebritis10.0
42campomelic dysplasia10.0
43graves' disease10.0
44osteogenesis imperfecta10.0
45hyperkalemic periodic paralysis10.0
46esophagitis10.0
47leukemia10.0
48motor neuron disease10.0
49ophthalmoplegia10.0
50placenta praevia10.0

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



Diseases related to malignant hyperthermia

Symptoms for Malignant Hyperthermia

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47OMIM
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Clinical features from OMIM:

601887,145600

Drugs & Therapeutics for Malignant Hyperthermia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Malignant Hyperthermia

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Malignant Hyperthermia:

33
Skeletal muscle, Testes, Heart, Liver, Kidney, Thyroid, Placenta, B cells, Cerebellum

Animal Models for Malignant Hyperthermia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Malignant Hyperthermia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2RYR1, CACNA1S, ASPH
2MP:00053697.9RYR1, CALR, CACNA1S, ASPH, SCN4A
3MP:00053787.6RYR1, SCN4A, CACNA1S, NME1, CALR
4MP:00053767.4ASPH, CACNA1S, CALR, NME1, RYR1
5MP:00107687.2RYR1, ASPH, NME1, SCN4A, CALR, CACNA1S

Publications for Malignant Hyperthermia

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52PubMed
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Articles related to Malignant Hyperthermia:

(show top 50)    (show all 659)
idTitleAuthorsYear
1
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations. (23239586)
2013
2
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
3
Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia. (23798496)
2013
4
Case report: clearance to dive for a naval candidate with family history of malignant hyperthermia. (23957207)
2013
5
Sudden death due to malignant hyperthermia during general anesthesia. (23879013)
2013
6
Malignant hyperthermia in endosulfan poisoning. (22736908)
2012
7
Nonanesthetic malignant hyperthermia. (21878807)
2011
8
Malignant hyperthermia in the oral and maxillofacial surgery patient: an update. (21827956)
2011
9
Excess comorbidities associated with malignant hyperthermia diagnosis in pediatric hospital discharge records. (21722230)
2011
10
Prevalence of malignant hyperthermia and relationship with anesthetics in Japan: data from the diagnosis procedure combination database. (21169796)
2011
11
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
12
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
13
Intramuscular injection of malignant hyperthermia trigger agents induces hypermetabolism in susceptible and nonsusceptible individuals. (19809329)
2010
14
Characterization and temporal development of cores in a mouse model of malignant hyperthermia. (19966218)
2009
15
Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)
2009
16
Novel ryanodine receptor mutation that may cause malignant hyperthermia. (18719443)
2008
17
Malignant hyperthermia developing during esophageal resection in an 82-year-old man. (19011791)
2008
18
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
19
The risk of malignant hyperthermia in children undergoing muscle biopsy for suspected neuromuscular disorder. (17184427)
2007
20
An assessment of a point-of-care information system for the anesthesia provider in simulated malignant hyperthermia crisis. (16428555)
2006
21
Gene symbol: RYR1. Disease: malignant hyperthermia. (16521286)
2005
22
Cumulative and bolus in vitro contracture testing with 4-chloro-3-ethylphenol in malignant hyperthermia positive and negative human skeletal muscles. (16115979)
2005
23
Desflurane, malignant hyperthermia, and release of compartment syndrome. (15845684)
2005
24
Sewing hot and cold: successful replant of a hand in a patient who developed malignant hyperthermia intraoperatively. (15629174)
2005
25
Central hyperthermia suspected of malignant hyperthermia in a patient undergoing radical neck clipping for cerebral aneurysm]. (15717469)
2005
26
Malignant hyperthermia with excellent response to small dose of dantrolene. (15679136)
2004
27
Malignant hyperthermia. (14764260)
2004
28
Sevoflurane-induced malignant hyperthermia during cardiopulmonary bypass and moderate hypothermia. (15315628)
2004
29
Malignant hyperthermia and the otolaryngologist. (12861868)
2003
30
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. (12883402)
2003
31
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. (11928716)
2002
32
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)
2002
33
Malignant hyperthermia: how to spot it early. (12136527)
2002
34
Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. (12220451)
2002
35
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)
2002
36
Fatal malignant hyperthermia--delayed onset and atypical course. (12372688)
2002
37
Heat production during anesthetic-induced malignant hyperthermia. (11725865)
2001
38
Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). (11575546)
2001
39
Malignant hyperthermia. (11268159)
2001
40
Differential diagnosis of thyroid crisis and malignant hyperthermia in an anesthetized porcine model. (10098596)
1999
41
Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. (9502764)
1998
42
Sodium channel in human malignant hyperthermia. (9158350)
1997
43
Malignant hyperthermia suggestive hypermetabolic syndrome at emergence from anesthesia. (8714856)
1995
44
The role of the skeletal muscle ryanodine receptor (RYR1) gene in malignant hyperthermia and central core disease. (7676327)
1995
45
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. (8012359)
1994
46
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
47
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
48
Malignant Hyperthermia Susceptibility (20301325)
1993
49
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
50
Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)
1986

Variations for Malignant Hyperthermia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Malignant Hyperthermia:

1
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
2RYR1NM_000540.2(RYR1): c.7373G> A (p.Arg2458His)single nucleotide variantPathogenic, risk factorrs121918594GRCh37Chr 19, 38991295: 38991295
3RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
4RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
5RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
6RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
7RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999

Expression for genes affiliated with Malignant Hyperthermia

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2BioGPS, 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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50PathCards, 53QIAGEN, 5Cell Signaling Technology, 38NCBI BioSystems Database
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Pathways related to Malignant Hyperthermia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CACNA1S, RYR1
2
Show member pathways
9.3CALR, CACNA1S
39.2RYR1, CALR
4
Show member pathways
9.2RYR1, CACNA1S, SCN4A
58.9RYR1, CALR, CACNA1S
6
Show member pathways
Calcium Regulation in the Cardiac Cell38
8.9RYR1, CALR, CACNA1S

Compounds for genes affiliated with Malignant Hyperthermia

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45Novoseek, 29IUPHAR, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience
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Compounds related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1nifedipine45 29 51 1112.6RYR1, CACNA1S
2succinylcholine45 51 29 1112.5SCN4A, CACNA1S, RYR1
3halothane45 51 29 1112.4CALR, RYR1
4creatinine459.1CPT2, NME1, RYR1
5hydrogen45 2410.0RYR1, CALR, CPT2
6urea45 24 1111.0CALR, NME1
7chloride459.0SCN4A, CALR, RYR1
8sodium45 249.9CALR, CACNA1S, SCN4A
9glyceraldehyde 3-phosphate458.9CALR, NME1, RYR1
10glutamine458.9RYR1, NME1, CALR
11pyruvate458.9NME1, CALR, CPT2
12fatty acid458.8CPT2, CALR, NME1
13lactate458.8NME1, CALR, CPT2
14glutamate458.8RYR1, CALR, CPT2
15ryanodine45 29 6110.7ASPH, CACNA1S, CALR, RYR1
16magnesium45 24 1110.7RYR1, NME1, CALR
17arginine458.7SCN4A, CACNA1S, CALR, RYR1
18histidine458.5NME1, CALR, CACNA1S, SCN4A
19nitric oxide45 24 1110.3RYR1, NME1, CALR
20serine458.3RYR1, NME1, CALR, CPT2
21dihydropyridine458.2RYR1, CALR, CACNA1S, ASPH, SCN4A
22atp45 299.0SCN4A, CPT2, CALR, NME1, RYR1
23calcium45 51 24 1110.5SCN4A, ASPH, CACNA1S, CALR, NME1, RYR1

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
1I bandGO:0316749.7RYR1, CACNA1S
2T-tubuleGO:0303159.7RYR1, CACNA1S
3junctional sarcoplasmic reticulum membraneGO:0147019.6RYR1, ASPH
4sarcoplasmic reticulum membraneGO:0330179.4ASPH, RYR1
5sarcoplasmic reticulumGO:0165299.4CACNA1S, RYR1
6sarcoplasmic reticulum lumenGO:0330189.2CALR, ASPH

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion transportGO:0068169.7RYR1, CACNA1S
2skeletal muscle fiber developmentGO:0487419.6CACNA1S, RYR1
3response to testosteroneGO:0335748.7NME1, CALR
4muscle contractionGO:0069368.7RYR1, CACNA1S, ASPH, SCN4A

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel activityGO:0052459.4RYR1, CACNA1S
2calcium ion bindingGO:0055098.7RYR1, CALR, ASPH

Products for genes affiliated with Malignant Hyperthermia

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Sources for Malignant Hyperthermia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet