MCID: MLG086
MIFTS: 47

Malignant Hyperthermia Susceptibility malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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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 myopathy. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are NCAM signaling for neurite out-growth and Celecoxib Pathway, Pharmacodynamics. The drugs dantrolene and dantrolene sodium and the compounds succinylcholine and dihydropyridine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related mouse phenotypes are other and growth/size/body.

GeneReviews summary for mhs

Aliases & Classifications for Malignant Hyperthermia Susceptibility

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62UMLS, 19GeneReviews, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

malignant hyperthermia susceptibility 19 20 22
malignant hyperpyrexia due to anesthesia 62
malignant hyperpyrexia 19


Related Diseases for Malignant Hyperthermia Susceptibility

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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
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 31)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia31.9RYR1, CACNA1S, CASQ1, CACNG1, SCN4A
2myopathy30.8RYR1, CACNA1S, CASQ1, SCN4A
3central core myopathy30.3CACNA1S, RYR1
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
10neuroleptic malignant 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
17obstructive sleep apnea10.2
18neuronitis10.2
19osteogenesis imperfecta10.2
20motor neuron disease10.2
21muscular dystrophy10.2
22placenta praevia10.2
23sleep apnea10.2
24mitochondrial disorders10.2
25rippling muscle disease10.2
26blindness10.2
27king denborough syndrome10.1
28neuromuscular disease10.0RYR1, SCN4A
29hypokalemia10.0CACNA1S, SCN4A
30hypokalemic periodic paralysis10.0SCN4A, CACNA1S, RYR1
31oxyphilic adenoma9.9CAV1, NME1

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



Diseases related to malignant hyperthermia susceptibility

Symptoms for Malignant Hyperthermia Susceptibility

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Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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

Search ClinicalTrials for Malignant Hyperthermia Susceptibility

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Malignant Hyperthermia Susceptibility

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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

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

33
Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2CAV1, NME1, RYR1
2MP:00053788.1RYR1, NME1, CAV1, CACNA1S, CASQ1, SCN4A
3MP:00053697.2RYR1, CAV1, CACNB1, CACNA1S, CASQ1, CACNG1

Publications for Malignant Hyperthermia Susceptibility

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52PubMed
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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
2
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. (23957432)
2013
3
Myopathic changes in malignant hyperthermia-susceptible patients. (23897489)
2013
4
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
5
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. (22431093)
2012
6
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. (22139840)
2012
7
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
8
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. (21156754)
2011
9
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
10
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. (20566647)
2010
11
Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)
2009
12
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. (19762757)
2009
13
Molecular genetic testing to diagnose malignant hyperthermia susceptibility. (18502356)
2008
14
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. (18306019)
2008
15
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
16
The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs. (16428544)
2006
17
Orthotopic liver transplantation in a malignant hyperthermia susceptible patient. (16297758)
2005
18
4-chloro-m-cresol cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. (15281512)
2004
19
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)
2004
20
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
21
Diagnosis of malignant hyperthermia susceptibility during CABG surgery. (12631056)
2003
22
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (12700608)
2003
23
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)
2002
24
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
25
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)
2002
26
Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum. (11377377)
2001
27
Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)
2000
28
Shortening velocity of skeletal muscle from humans with malignant hyperthermia susceptibility: effects of halothane. (10657553)
2000
29
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
30
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
31
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
32
Malignant Hyperthermia Susceptibility (20301325)
1993
33
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. (8395939)
1993
34
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
35
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. (1427885)
1992
36
Should all children with suspected or confirmed malignant hyperthermia susceptibility be admitted after surgery? A 10-year review. (1510254)
1992
37
Unexplained increases in serum creatine kinase levels: its relation to malignant hyperthermia susceptibility. (2018229)
1991
38
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-q13.2. (2379741)
1990
39
Microassay for malignant hyperthermia susceptibility: hypersensitive ligand-gating of the Ca channel in muscle sarcoplasmic reticulum causes increased amounts and rates of Ca-release. (2158620)
1990
40
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2321777)
1990
41
Canine stress syndrome/malignant hyperthermia susceptibility: calcium-homeostasis defect in muscle and lymphocytes. (2300706)
1990
42
Neuroleptic malignant syndrome and malignant hyperthermia susceptibility. (2244451)
1990
43
Malignant hyperthermia susceptibility in adult patients with masseter muscle rigidity. (2295104)
1990
44
Identify malignant hyperthermia susceptibility to avert life-threatening episodes. (2605774)
1989
45
Porcine malignant hyperthermia susceptibility: halothane-induced increase in cytoplasmic free calcium in lymphocytes. (2919818)
1989
46
Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)
1986
47
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? (4096721)
1985
48
Canine malignant hyperthermia susceptibility: erythrocytic defects--osmotic fragility, glucose-6-phosphate dehydrogenase deficiency and abnormal Ca2+ homeostasis. (6150753)
1984
49
Electrocardiographic abnormalities associated with malignant hyperthermia susceptibility. (7069330)
1982
50
Screening for malignant hyperthermia susceptibility. (6930029)
1980

Variations for Malignant Hyperthermia Susceptibility

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Expression for genes affiliated with Malignant Hyperthermia Susceptibility

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 55Reactome, 51PharmGKB, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7CACNB1, CACNA1S
29.7CACNB1, CACNA1S
3
Show member pathways
9.4CACNB1, CACNA1S, SCN4A
49.0CACNB1, CACNA1S, CACNG1
59.0CACNB1, CACNA1S, CACNG1
6
Show member pathways
9.0CACNB1, CACNA1S, CACNG1
7
Show member pathways
9.0CACNB1, CACNA1S, CACNG1
8
Show member pathways
9.0CACNB1, CACNA1S, CACNG1
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.0CACNB1, CACNA1S, CACNG1
10
Show member pathways
MAPK signaling pathway38
9.0CACNG1, CACNA1S, CACNB1
11
Show member pathways
9.0CACNG1, CACNA1S, CACNB1
129.0CACNG1, CACNA1S, CACNB1
13
Show member pathways
9.0CACNG1, CACNA1S, CACNB1
14
Show member pathways
9.0CACNG1, CACNA1S, CACNB1
15
Show member pathways
8.8CACNG1, CACNA1S, CACNB1, RYR1
168.8RYR1, CACNB1, CACNA1S, CACNG1
17
Show member pathways
8.8RYR1, CACNB1, CACNA1S, CACNG1
188.8RYR1, CACNB1, CACNA1S, CACNG1
19
Show member pathways
8.8RYR1, CACNB1, CACNA1S, CACNG1
20
Show member pathways
8.7CAV1, CACNB1, CACNA1S, CACNG1
21
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
8.7CACNG1, CACNA1S, CACNB1, CAV1
22
Show member pathways
Calcium Regulation in the Cardiac Cell38
8.6CASQ1, CACNA1S, CACNB1, RYR1
23
Show member pathways
8.5SCN4A, CACNG1, CACNA1S, CACNB1, RYR1
24
Show member pathways
8.4SCN4A, CACNG1, CACNA1S, CACNB1, CAV1

Compounds for genes affiliated with Malignant Hyperthermia Susceptibility

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1succinylcholine45 51 29 1112.9RYR1, CACNA1S, SCN4A
2dihydropyridine459.8RYR1, CACNA1S, SCN4A
3nitrendipine45 51 29 1112.7CACNA1S, CACNG1
4chloride459.7SCN4A, CAV1, RYR1
5diltiazem45 29 51 1112.6CACNA1S, CACNG1
6ouabain45 1110.6CAV1, RYR1
7histidine459.5NME1, CACNA1S, SCN4A
8ryanodine45 29 6111.3CASQ1, CACNA1S, RYR1
9arginine459.3SCN4A, CACNA1S, CAV1, RYR1
10amlodipine45 51 24 1112.2CACNB1, CACNA1S, CACNG1
11atp45 2910.2RYR1, NME1, CAV1, SCN4A
12verapamil45 29 51 24 1112.9CACNG1, CACNA1S, CACNB1, CAV1
13calcium45 51 24 1110.2SCN4A, CACNG1, CASQ1, CACNA1S, CACNB1, CAV1

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

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16Gene Ontology
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Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:0330179.4RYR1, CASQ1
2sarcoplasmic reticulumGO:0165299.3RYR1, CACNB1, CACNA1S
3I bandGO:0316749.2RYR1, CACNA1S, CASQ1
4smooth endoplasmic reticulumGO:0057909.1RYR1, CASQ1
5voltage-gated calcium channel complexGO:0058919.0CACNG1, CACNA1S, CACNB1
6T-tubuleGO:0303158.7RYR1, CACNB1, CACNA1S, CASQ1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:04874110.0CACNA1S, RYR1
2cytosolic calcium ion homeostasisGO:0514809.8RYR1, CAV1
3calcium ion transportGO:0068169.7RYR1, CAV1, CACNA1S
4lactationGO:0075959.5NME1, CAV1
5endoplasmic reticulum organizationGO:0070299.4CACNA1S, CASQ1
6skeletal muscle tissue developmentGO:0075199.3CAV1, CASQ1
7muscle contractionGO:0069369.2RYR1, CACNA1S, CACNG1, SCN4A

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

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:0083319.7CACNB1, CACNA1S
2voltage-gated calcium channel activityGO:0052458.5RYR1, CACNB1, CACNA1S, CACNG1

Products for genes affiliated with Malignant Hyperthermia Susceptibility

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Sources for Malignant Hyperthermia Susceptibility

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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