MH
MCID: MLG056
MIFTS: 66

Malignant Hyperthermia (MH) malady

Genetic diseases, Rare diseases categories
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Summaries for Malignant Hyperthermia

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NIH Rare Diseases:42 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 based summary: Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to malignant hyperthermia susceptibility and central core myopathy. An important gene associated with Malignant Hyperthermia is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are Netrin Signaling and Ca, cAMP and Lipid 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...

Descriptions from OMIM:46 601887,145600

Aliases & Classifications for Malignant Hyperthermia

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Malignant Hyperthermia, Aliases & Descriptions:

Name: Malignant Hyperthermia 8 42 22 21 10
Anesthesia Related Hyperthermia 8 42 21
Malignant Hyperpyrexia 42 21 62
Malignant Hyperpyrexia Due to Anesthesia 8 62
Pharmacogenic Myopathy 42 62
Mhs - Malignant Hyperthermia 21
 
Hyperpyrexia, Fulminating 62
Fulminating Hyperpyrexia 42
Hyperpyrexia, Malignant 21
Hyperthermia, Malignant 21
Hyperpyrexia Malignant 42
Mh 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:8545
NCIt39 C84869
ICD9CM27 995.86
MeSH34 D008305
ICD1025 T88.3

Related Diseases for Malignant Hyperthermia

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility32.1RYR1, CACNA1S
2central core myopathy30.7CACNA1S, RYR1
3myopathy30.6SCN4A, CPT2, CACNA1S, RYR1
4hypokalemic periodic paralysis30.4SCN4A, CACNA1S, RYR1
5neuromuscular disease30.4SCN4A, RYR1
6malignant hyperthermia susceptibility type 110.6
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
14malignant hyperthermia susceptibility type 610.3
15native american myopathy10.3
16myotonia10.3
17becker muscular dystrophy10.3
18larsen syndrome10.3
19wolf-hirschhorn syndrome10.3
20king denborough syndrome10.3
21diabetes mellitus10.2
22smith-lemli-opitz syndrome10.2
23compartment syndrome10.2
24congenital contractures10.2
25moebius syndrome10.2
26ryr1-related malignant hyperthermia susceptibility10.2
27mhs2-related malignant hyperthermia susceptibility10.2
28mhs3-related malignant hyperthermia susceptibility10.2
29mhs4-related malignant hyperthermia susceptibility10.2
30cacna1s-related malignant hyperthermia susceptibility10.2
31mhs6-related malignant hyperthermia susceptibility10.2
32malignant histiocytosis10.2
33histiocytosis10.2
34hypokalemia10.1CACNA1S, SCN4A
35noonan syndrome10.1RYR1, CPT2
36brain disease10.0RYR1, CPT2
37leukemia10.0
38motor neuron disease10.0
39schizophrenia10.0
40campomelic dysplasia10.0
41centronuclear myopathy10.0
42hyperkalemic periodic paralysis10.0
43cleft palate10.0
44obstructive sleep apnea10.0
45yellow fever10.0
46egg allergy10.0
47thyroid crisis10.0
48distal arthrogryposis10.0
49graves' disease10.0
50osteogenesis imperfecta10.0

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



Diseases related to malignant hyperthermia

Symptoms for Malignant Hyperthermia

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Clinical features from OMIM:

601887,145600

Drugs & Therapeutics for Malignant Hyperthermia

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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-RT40:

Genetic Tests for Malignant Hyperthermia

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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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MalaCards organs/tissues related to Malignant Hyperthermia:

32
Skeletal muscle, Testes, Heart, Liver, Cerebellum, Kidney, Thyroid, Placenta, B cells

Animal Models for Malignant Hyperthermia or affiliated genes

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MGI Mouse Phenotypes related to Malignant Hyperthermia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2RYR1, CACNA1S, ASPH
2MP:00053697.9RYR1, CALR, CACNA1S, ASPH, SCN4A
3MP:00053787.6SCN4A, CACNA1S, CALR, NME1, RYR1
4MP:00053767.4ASPH, CACNA1S, CALR, NME1, RYR1
5MP:00107687.2SCN4A, ASPH, CACNA1S, CALR, NME1, RYR1

Publications for Malignant Hyperthermia

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Articles related to Malignant Hyperthermia:

(show top 50)    (show all 680)
idTitleAuthorsYear
1
Contractile elements in muscular fascial tissue - implications for in-vitro contracture testing for malignant hyperthermia. (24909539)
2014
2
Manufacturer's response to Bilmen and Gillies' manuscript entitled "Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients". (25342416)
2014
3
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations. (23239586)
2013
4
Malignant Hyperthermia-Like Manifestations in a Two-Month-Old Child with Holt-Oram Syndrome Undergoing Cardiac Surgery. (24011877)
2013
5
Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia. (23798496)
2013
6
Case report: clearance to dive for a naval candidate with family history of malignant hyperthermia. (23957207)
2013
7
Sudden death due to malignant hyperthermia during general anesthesia. (23879013)
2013
8
Malignant hyperthermia in endosulfan poisoning. (22736908)
2012
9
Nonanesthetic malignant hyperthermia. (21878807)
2011
10
Malignant hyperthermia in the oral and maxillofacial surgery patient: an update. (21827956)
2011
11
Excess comorbidities associated with malignant hyperthermia diagnosis in pediatric hospital discharge records. (21722230)
2011
12
Prevalence of malignant hyperthermia and relationship with anesthetics in Japan: data from the diagnosis procedure combination database. (21169796)
2011
13
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
14
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
15
Intramuscular injection of malignant hyperthermia trigger agents induces hypermetabolism in susceptible and nonsusceptible individuals. (19809329)
2010
16
Characterization and temporal development of cores in a mouse model of malignant hyperthermia. (19966218)
2009
17
Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)
2009
18
Novel ryanodine receptor mutation that may cause malignant hyperthermia. (18719443)
2008
19
Malignant hyperthermia developing during esophageal resection in an 82-year-old man. (19011791)
2008
20
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
21
An assessment of a point-of-care information system for the anesthesia provider in simulated malignant hyperthermia crisis. (16428555)
2006
22
Gene symbol: RYR1. Disease: malignant hyperthermia. (16521286)
2005
23
Cumulative and bolus in vitro contracture testing with 4-chloro-3-ethylphenol in malignant hyperthermia positive and negative human skeletal muscles. (16115979)
2005
24
Desflurane, malignant hyperthermia, and release of compartment syndrome. (15845684)
2005
25
Sewing hot and cold: successful replant of a hand in a patient who developed malignant hyperthermia intraoperatively. (15629174)
2005
26
Central hyperthermia suspected of malignant hyperthermia in a patient undergoing radical neck clipping for cerebral aneurysm]. (15717469)
2005
27
Malignant hyperthermia with excellent response to small dose of dantrolene. (15679136)
2004
28
Malignant hyperthermia. (14764260)
2004
29
Sevoflurane-induced malignant hyperthermia during cardiopulmonary bypass and moderate hypothermia. (15315628)
2004
30
Malignant hyperthermia and the otolaryngologist. (12861868)
2003
31
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. (12883402)
2003
32
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. (11928716)
2002
33
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)
2002
34
Malignant hyperthermia: how to spot it early. (12136527)
2002
35
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
36
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)
2002
37
Fatal malignant hyperthermia--delayed onset and atypical course. (12372688)
2002
38
Heat production during anesthetic-induced malignant hyperthermia. (11725865)
2001
39
Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1). (11575546)
2001
40
Malignant hyperthermia. (11268159)
2001
41
Differential diagnosis of thyroid crisis and malignant hyperthermia in an anesthetized porcine model. (10098596)
1999
42
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
43
Sodium channel in human malignant hyperthermia. (9158350)
1997
44
Malignant hyperthermia suggestive hypermetabolic syndrome at emergence from anesthesia. (8714856)
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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Clinvar genetic disease variations for Malignant Hyperthermia:

6
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenicrs118192161GRCh37Chr 19, 38934851: 38934851
2RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenicrs118192175GRCh37Chr 19, 38985204: 38985204
3RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenicrs118192163GRCh37Chr 19, 38985205: 38985205
4RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenicrs118192170GRCh37Chr 19, 39075629: 39075629
5RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenicrs118192167GRCh37Chr 19, 39070644: 39070644
6RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenicrs118192162GRCh37Chr 19, 38945999: 38945999

Expression for genes affiliated with Malignant Hyperthermia

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Expression patterns in normal tissues for genes affiliated with Malignant Hyperthermia

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Pathways for genes affiliated with Malignant Hyperthermia

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Pathways related to Malignant Hyperthermia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CACNA1S, RYR1
29.3RYR1, CALR
3
Show member pathways
9.2CALR, CACNA1S
4
Show member pathways
9.2RYR1, CACNA1S, SCN4A
58.9RYR1, CALR, CACNA1S
6
Show member pathways
Calcium Regulation in the Cardiac Cell37
8.9RYR1, CALR, CACNA1S

Compounds for genes affiliated with Malignant Hyperthermia

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Compounds related to Malignant Hyperthermia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1nifedipine44 28 50 1112.6RYR1, CACNA1S
2succinylcholine44 50 28 1112.5SCN4A, CACNA1S, RYR1
3halothane44 50 28 1112.5CALR, RYR1
4creatinine449.2CPT2, NME1, RYR1
5hydrogen44 2410.1RYR1, CALR, CPT2
6chloride449.0SCN4A, CALR, RYR1
7urea44 24 1111.0CALR, NME1
8glyceraldehyde 3-phosphate449.0CALR, NME1, RYR1
9glutamine448.9RYR1, NME1, CALR
10sodium44 249.9CALR, CACNA1S, SCN4A
11pyruvate448.9NME1, CALR, CPT2
12glutamate448.8RYR1, CALR, CPT2
13fatty acid448.8CPT2, CALR, NME1
14lactate448.8NME1, CALR, CPT2
15magnesium44 24 1110.7RYR1, NME1, CALR
16ryanodine44 28 6110.7ASPH, CACNA1S, CALR, RYR1
17arginine448.7SCN4A, CACNA1S, CALR, RYR1
18histidine448.4NME1, CALR, CACNA1S, SCN4A
19nitric oxide44 24 1110.4RYR1, NME1, CALR
20serine448.3RYR1, NME1, CALR, CPT2
21dihydropyridine448.2RYR1, CALR, CACNA1S, ASPH, SCN4A
22atp44 289.0SCN4A, CPT2, CALR, NME1, RYR1
23calcium44 50 24 1110.5SCN4A, ASPH, CACNA1S, CALR, NME1, RYR1

GO Terms for genes affiliated with Malignant Hyperthermia

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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:0330179.5ASPH, 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:0055098.8RYR1, CALR, ASPH

Products for genes affiliated with Malignant Hyperthermia

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Sources for Malignant Hyperthermia

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