MCID: MLG086
MIFTS: 43

Malignant Hyperthermia Susceptibility malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Malignant Hyperthermia Susceptibility

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MalaCards based summary: Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to malignant hyperthermia and central core disease. 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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Malignant Hyperthermia Susceptibility, Aliases & Descriptions:

Name: Malignant Hyperthermia Susceptibility 19 20 22
Malignant Hyperpyrexia Due to Anesthesia 60
 
Malignant Hyperpyrexia 19


Classifications:

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


Related Diseases for Malignant Hyperthermia Susceptibility

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Diseases in the Malignant Hyperthermia Susceptibility family:

Malignant Hyperthermia Susceptibility 5 Malignant Hyperthermia Susceptibility 1
Malignant Hyperthermia Susceptibility Type 2 Malignant Hyperthermia Susceptibility Type 3
Malignant Hyperthermia Susceptibility Type 4 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 Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia31.5RYR1, CACNA1S, CASQ1, CACNG1, SCN4A
2central core disease31.0CACNA1S, RYR1
3myopathy30.6RYR1, CACNA1S, CASQ1, SCN4A
4malignant hyperthermia susceptibility 510.6
5malignant hyperthermia susceptibility 110.6
6malignant hyperthermia susceptibility type 210.5
7malignant hyperthermia susceptibility type 310.5
8malignant hyperthermia susceptibility type 410.5
9malignant hyperthermia susceptibility type 610.5
10ryr1-related malignant hyperthermia susceptibility10.4
11mhs2-related malignant hyperthermia susceptibility10.4
12mhs3-related malignant hyperthermia susceptibility10.4
13mhs4-related malignant hyperthermia susceptibility10.4
14cacna1s-related malignant hyperthermia susceptibility10.4
15mhs6-related malignant hyperthermia susceptibility10.4
16neuroleptic malignant syndrome10.3
17rippling muscle disease10.2
18brody myopathy10.2
19motor neuron disease10.2
20obstructive sleep apnea10.2
21neuronitis10.2
22central core myopathy10.2
23osteogenesis imperfecta10.2
24muscular dystrophy10.2
25placenta praevia10.2
26sleep apnea10.2
27mitochondrial disorders10.2
28blindness10.2
29neuromuscular disease10.1RYR1, SCN4A
30hypokalemia10.0CACNA1S, SCN4A
31hypokalemic periodic paralysis, type 110.0SCN4A, CACNA1S, RYR1
32oxyphilic adenoma9.7CAV1, 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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Drug clinical trials:

Search ClinicalTrials for Malignant Hyperthermia Susceptibility

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Malignant Hyperthermia Susceptibility

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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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MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

31
Testes, Skeletal muscle, Liver, Placenta

Animal Models for Malignant Hyperthermia Susceptibility or affiliated genes

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MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

35
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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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50)    (show all 205)
idTitleAuthorsYear
1
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
2
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. (25086907)
2014
3
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. (22976939)
2013
4
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. (24455316)
2013
5
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. (23957432)
2013
6
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
7
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. (22431093)
2012
8
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. (22139840)
2012
9
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. (21791993)
2011
10
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. (21156754)
2011
11
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. (23484448)
2010
12
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. (20566647)
2010
13
Preparation of the DrAoger Fabius GS workstation for malignant hyperthermia-susceptible patients. (19399571)
2009
14
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. (19762757)
2009
15
Molecular genetic testing to diagnose malignant hyperthermia susceptibility. (18502356)
2008
16
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation. (18306019)
2008
17
Recurrent postoperative deep vein thrombosis in a patient with obstructive sleep apnea and malignant hyperthermia susceptibility. (18056220)
2007
18
The dose-response relationship and regional distribution of lactate after intramuscular injection of halothane and caffeine in malignant hyperthermia-susceptible pigs. (16428544)
2006
19
Orthotopic liver transplantation in a malignant hyperthermia susceptible patient. (16297758)
2005
20
4-chloro-m-cresol cannot detect malignant hyperthermia equivocal cells in an alternative minimally invasive diagnostic test of malignant hyperthermia susceptibility. (15281512)
2004
21
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)
2004
22
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
23
Diagnosis of malignant hyperthermia susceptibility during CABG surgery. (12631056)
2003
24
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing? (12700608)
2003
25
Positive malignant hyperthermia susceptibility in vitro test in a patient with mitochondrial myopathy and myoadenylate deaminase deficiency. (12459698)
2002
26
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
27
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. (12411788)
2002
28
Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum. (11377377)
2001
29
Between-center variability of results of the in vitro contracture test for malignant hyperthermia susceptibility. (10910867)
2000
30
Shortening velocity of skeletal muscle from humans with malignant hyperthermia susceptibility: effects of halothane. (10657553)
2000
31
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
32
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
33
Spin resonance spectroscopy to detect malignant hyperthermia susceptibility. (8391293)
1993
34
Malignant Hyperthermia Susceptibility (20301325)
1993
35
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
36
Does postoperative pyrexia indicate malignant hyperthermia susceptibility? (1540466)
1992
37
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. (1427885)
1992
38
Should all children with suspected or confirmed malignant hyperthermia susceptibility be admitted after surgery? A 10-year review. (1510254)
1992
39
Unexplained increases in serum creatine kinase levels: its relation to malignant hyperthermia susceptibility. (2018229)
1991
40
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-q13.2. (2379741)
1990
41
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
42
Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility. (2321777)
1990
43
Canine stress syndrome/malignant hyperthermia susceptibility: calcium-homeostasis defect in muscle and lymphocytes. (2300706)
1990
44
Neuroleptic malignant syndrome and malignant hyperthermia susceptibility. (2244451)
1990
45
Identify malignant hyperthermia susceptibility to avert life-threatening episodes. (2605774)
1989
46
Porcine malignant hyperthermia susceptibility: halothane-induced increase in cytoplasmic free calcium in lymphocytes. (2919818)
1989
47
Porcine malignant hyperthermia susceptibility: increased calcium-sequestering activity of skeletal muscle sarcoplasmic reticulum. (3742368)
1986
48
Myoadenylate deaminase deficiency and malignant hyperthermia susceptibility: is there a relationship? (4096721)
1985
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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Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.

Pathways for genes affiliated with Malignant Hyperthermia Susceptibility

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Pathways related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(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 cardiomyopathy36
9.0CACNB1, CACNA1S, CACNG1
10
Show member pathways
MAPK signaling pathway36
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 ESR258
8.7CACNG1, CACNA1S, CACNB1, CAV1
22
Show member pathways
Calcium Regulation in the Cardiac Cell36
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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Compounds related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1succinylcholine43 49 28 1212.9RYR1, CACNA1S, SCN4A
2dihydropyridine439.8RYR1, CACNA1S, SCN4A
3nitrendipine43 49 28 1212.7CACNA1S, CACNG1
4chloride439.7SCN4A, CAV1, RYR1
5diltiazem43 28 49 1212.6CACNA1S, CACNG1
6ouabain43 1210.6CAV1, RYR1
7histidine439.5NME1, CACNA1S, SCN4A
8ryanodine43 28 5911.3CASQ1, CACNA1S, RYR1
9arginine439.3SCN4A, CACNA1S, CAV1, RYR1
10amlodipine43 49 24 1212.2CACNB1, CACNA1S, CACNG1
11atp43 2810.2RYR1, NME1, CAV1, SCN4A
12verapamil43 28 49 24 1212.9CACNG1, CACNA1S, CACNB1, CAV1
13calcium43 49 24 1210.2SCN4A, CACNG1, CASQ1, CACNA1S, CACNB1, CAV1

GO Terms for genes affiliated with Malignant Hyperthermia Susceptibility

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Cellular components related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:00330179.4RYR1, CASQ1
2sarcoplasmic reticulumGO:00165299.3RYR1, CACNB1, CACNA1S
3I bandGO:00316749.2RYR1, CACNA1S, CASQ1
4smooth endoplasmic reticulumGO:00057909.1RYR1, CASQ1
5voltage-gated calcium channel complexGO:00058919.0CACNG1, CACNA1S, CACNB1
6T-tubuleGO:00303158.7RYR1, CACNB1, CACNA1S, CASQ1

Biological processes related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:004874110.0CACNA1S, RYR1
2cytosolic calcium ion homeostasisGO:00514809.8RYR1, CAV1
3calcium ion transportGO:00068169.7RYR1, CAV1, CACNA1S
4lactationGO:00075959.5NME1, CAV1
5endoplasmic reticulum organizationGO:00070299.4CACNA1S, CASQ1
6skeletal muscle tissue developmentGO:00075199.3CAV1, CASQ1
7muscle contractionGO:00069369.2RYR1, CACNA1S, CACNG1, SCN4A

Molecular functions related to Malignant Hyperthermia Susceptibility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1high voltage-gated calcium channel activityGO:00083319.7CACNB1, CACNA1S
2voltage-gated calcium channel activityGO:00052458.5RYR1, CACNB1, CACNA1S, CACNG1

Products for genes affiliated with Malignant Hyperthermia Susceptibility

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Sources for Malignant Hyperthermia Susceptibility

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet