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MCID: MLG086
MIFTS: 45

Malignant Hyperthermia Susceptibility malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Malignant Hyperthermia Susceptibility

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Aliases & Descriptions for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 23 24 29
Malignant Hyperpyrexia 23 24
Malignant Hyperpyrexia Due to Anesthesia 69

Characteristics:

GeneReviews:

23
Penetrance The penetrance of mh susceptibility is unknown. what is known is that up to 50% of individuals with mh susceptibility have undergone anesthesia uneventfully despite use of one of the agents known to trigger mh...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Malignant Hyperthermia Susceptibility

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MalaCards based summary : Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia, is related to malignant hyperthermia susceptibility 5 and malignant hyperthermia susceptibility 1, and has symptoms including fever, muscle rigidity and pain, postoperative. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Vascular smooth muscle contraction and G-Beta Gamma Signaling. The drugs Etoposide and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related phenotype is muscle.

GeneReviews: NBK1146
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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
Cacna1s-Related Malignant Hyperthermia Susceptibility Mhs2-Related Malignant Hyperthermia Susceptibility
Mhs3-Related Malignant Hyperthermia Susceptibility Mhs4-Related Malignant Hyperthermia Susceptibility
Mhs6-Related Malignant Hyperthermia Susceptibility Ryr1-Related Malignant Hyperthermia Susceptibility

Diseases related to Malignant Hyperthermia Susceptibility via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 5 33.3 CACNA1S RYR1 SCN4A
2 malignant hyperthermia susceptibility 1 12.3
3 malignant hyperthermia susceptibility type 2 12.1
4 malignant hyperthermia susceptibility type 3 12.1
5 malignant hyperthermia susceptibility type 4 12.1
6 malignant hyperthermia susceptibility type 6 12.1
7 cacna1s-related malignant hyperthermia susceptibility 12.0
8 mhs2-related malignant hyperthermia susceptibility 12.0
9 mhs3-related malignant hyperthermia susceptibility 12.0
10 mhs4-related malignant hyperthermia susceptibility 12.0
11 mhs6-related malignant hyperthermia susceptibility 12.0
12 ryr1-related malignant hyperthermia susceptibility 12.0
13 malignant hyperthermia 10.9
14 primary pulmonary lymphoma 10.2 CACNA1S RYR1
15 glaucoma 1, open angle, p 10.2 CACNA1S RYR1
16 myopathy 10.2
17 repetitive motion disorders 10.2 CACNA1S SCN4A
18 premature ovarian failure 5 10.2 RYR1 SCN4A
19 myotonia congenita, atypical, acetazolamide-responsive 10.1 CACNA1S SCN4A
20 b cell deficiency 10.1 RYR1 SCN4A
21 hypothyroidism, congenital, nongoitrous, 1 10.1 CACNA1S SCN4A
22 epilepsy, generalized, with febrile seizures plus, type 1 10.1 CACNA1S RYR1
23 pediatric angiosarcoma 10.1 RYR1 SCN4A
24 raynaud disease 10.1 CACNA1S RYR1 SCN4A
25 esophageal leukoplakia 10.1 CACNA1S SCN4A
26 ciliary dyskinesia, primary, 9, with or without situs inversus 10.0 CACNA1S SCN4A
27 central core disease 9.9
28 neuroleptic malignant syndrome 9.9
29 scoliosis 9.7
30 ptosis 9.7
31 thrombosis 9.7
32 congenital myopathy 9.7
33 placenta praevia 9.7
34 osteogenesis imperfecta 9.7
35 neuronitis 9.7
36 rippling muscle disease 9.7
37 brody myopathy 9.7
38 muscular dystrophy 9.7
39 mitochondrial disorders 9.7
40 motor neuron disease 9.7
41 sleep apnea 9.7
42 obstructive sleep apnea 9.7
43 soft palate cancer 9.7 CACNA1S CACNG1 CASQ1 RYR1 SCN4A
44 multiminicore disease 8.4 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 MHS2

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



Diseases related to Malignant Hyperthermia Susceptibility
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Symptoms & Phenotypes for Malignant Hyperthermia Susceptibility

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UMLS symptoms related to Malignant Hyperthermia Susceptibility:


fever, muscle rigidity, pain, postoperative, postoperative nausea and vomiting

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 RYR1
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Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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Drugs for Malignant Hyperthermia Susceptibility (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 2 33419-42-0 36462
2
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
3 Etoposide phosphate Phase 2
4
Adenosine Approved, Investigational 58-61-7 60961
5
Menthol Approved 2216-51-5 16666
6 Analgesics
7 Neurotransmitter Agents
8 Peripheral Nervous System Agents
9 Vasodilator Agents
10 Anti-Arrhythmia Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2
2 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
3 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
4 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558

Search NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS 69 / NDF-RT 48 :
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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 Susceptibility 29 24 RYR1
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Anatomical Context for Malignant Hyperthermia Susceptibility

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MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

39
Testes, Skeletal Muscle, Liver, Placenta
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Publications for Malignant Hyperthermia Susceptibility

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Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 218)
id Title Authors Year
1
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
2
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
3
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
4
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
5
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. ( 27555149 )
2016
6
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. ( 27854207 )
2016
7
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. ( 26218487 )
2015
8
Effect of caffeine on intrinsic mechanical properties of normal and malignant hyperthermia-susceptible muscle. ( 25619865 )
2015
9
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. ( 26691049 )
2015
10
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. ( 25958340 )
2015
11
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. ( 26188342 )
2015
12
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
13
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. ( 25086907 )
2014
14
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014
15
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. ( 23842196 )
2014
16
Core myopathies and malignant hyperthermia susceptibility: a review. ( 23617272 )
2013
17
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
18
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. ( 23923663 )
2013
19
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. ( 23460944 )
2013
20
Myopathic changes in malignant hyperthermia-susceptible patients. ( 23897489 )
2013
21
Using exome data to identify malignant hyperthermia susceptibility mutations. ( 24195946 )
2013
22
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ( 23476141 )
2013
23
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. ( 23558838 )
2013
24
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. ( 24455316 )
2013
25
Analysis of histomorphology in malignant hyperthermia-susceptible patients. ( 23888335 )
2013
26
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. ( 23957432 )
2013
27
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. ( 22139840 )
2012
28
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. ( 22577915 )
2012
29
Ondansetron-induced muscular contractures in malignant hyperthermia-susceptible individuals. ( 22696611 )
2012
30
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. ( 22431093 )
2012
31
3,4-Methylenedioxymethamphetamine (Ecstasy) increases the sensitivity of the contractile apparatus to calcium ions in both malignant hyperthermia-susceptible and normal skeletal muscle fibres. ( 22089516 )
2012
32
3,5-Di-t-butyl catechol is a potent human ryanodine receptor 1 activator, not suitable for the diagnosis of malignant hyperthermia susceptibility. ( 22480578 )
2012
33
A medical student with malignant hyperthermia susceptibility. ( 22417041 )
2012
34
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. ( 22547813 )
2012
35
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
36
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: when are they really clean? ( 21791992 )
2011
37
Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. ( 20978128 )
2011
38
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. ( 21156754 )
2011
39
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. ( 21376345 )
2011
40
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. ( 21791993 )
2011
41
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. ( 23256268 )
2011
42
Effects of theophylline on anesthetized malignant hyperthermia-susceptible pigs. ( 22131820 )
2011
43
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: a review of past and present practice. ( 21169802 )
2011
44
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. ( 21730923 )
2011
45
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and results. ( 23484448 )
2010
46
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. ( 20566647 )
2010
47
Statins alter intracellular calcium homeostasis in malignant hyperthermia susceptible individuals. ( 20955541 )
2010
48
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. ( 20544946 )
2010
49
Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. ( 19714456 )
2009
50
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. ( 19762757 )
2009
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Variations for Malignant Hyperthermia Susceptibility

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Expression for Malignant Hyperthermia Susceptibility

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Search GEO for disease gene expression data for Malignant Hyperthermia Susceptibility.
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Pathways for Malignant Hyperthermia Susceptibility

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

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Vascular smooth muscle contraction 37
Show member pathways
 12.59 CACNA1S CACNB1 CACNG1 RYR1
2
G-Beta Gamma Signaling 60
Show member pathways
 12.56 CACNA1S CACNB1 CACNG1 CAV1 SCN4A
3
Cardiac conduction 62
Show member pathways
 12.49 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
4
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.27 CACNA1S CACNB1 CASQ1 RYR1
5
DREAM Repression and Dynorphin Expression 60
Show member pathways
 12.22 CACNA1S CACNB1 CACNG1 RYR1
6
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.14 CACNA1S CACNB1 CACNG1
7
Dopamine-DARPP32 Feedback onto cAMP Pathway 60
12.08 CACNA1S CACNB1 CACNG1
8
Development Ligand-independent activation of ESR1 and ESR2 21
Show member pathways
 11.95 CACNA1S CACNB1 CACNG1 CAV1
9
Dilated cardiomyopathy 37
Show member pathways
 11.92 CACNA1S CACNB1 CACNG1
10
Fc-GammaR Pathway 60
Show member pathways
 11.78 CACNA1S CACNB1 CACNG1
11
Presenilin-Mediated Signaling 60
11.71 CACNA1S CACNB1 CACNG1 RYR1
12
Cardiac muscle contraction 37
11.5 CACNA1S CACNB1 CACNG1
13
Phase 0 - rapid depolarisation 62
Show member pathways
 11.33 CACNA1S CACNB1 CACNG1 SCN4A
14
NCAM1 interactions 62
11.1 CACNA1S CACNB1
15
Netrin Signaling 60
10.95 CACNA1S CACNB1 CACNG1 RYR1
16
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 58
10 CACNA1S CACNB1 CACNG1 RYR1
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GO Terms for Malignant Hyperthermia Susceptibility

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

id Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum GO:0016529 9.4 CASQ1 RYR1
2 sarcoplasmic reticulum membrane GO:0033017 9.37 CASQ1 RYR1
3 T-tubule GO:0030315 9.33 CACNA1S CASQ1 RYR1
4 smooth endoplasmic reticulum GO:0005790 9.32 CASQ1 RYR1
5 terminal cisterna GO:0014802 9.26 CASQ1 RYR1
6 voltage-gated calcium channel complex GO:0005891 9.13 CACNA1S CACNB1 CACNG1
7 I band GO:0031674 8.8 CACNA1S CASQ1 RYR1

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.67 CASQ1 RYR1 SCN4A
3 calcium ion transmembrane transport GO:0070588 9.56 CACNA1S CACNB1 CACNG1 RYR1
4 cardiac conduction GO:0061337 9.5 CACNA1S CACNB1 CACNG1
5 skeletal muscle tissue development GO:0007519 9.48 CASQ1 CAV1
6 regulation of cytosolic calcium ion concentration GO:0051480 9.46 CAV1 RYR1
7 muscle contraction GO:0006936 9.46 CACNA1S CACNG1 RYR1 SCN4A
8 membrane depolarization during action potential GO:0086010 9.43 CACNA1S SCN4A
9 cellular response to caffeine GO:0071313 9.37 CACNA1S RYR1
10 regulation of ion transmembrane transport GO:0034765 9.35 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
11 calcium ion transport GO:0006816 9.02 CACNA1S CACNB1 CACNG1 CAV1 RYR1

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

id Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.26 CACNA1S CACNB1 CACNG1 RYR1
2 high voltage-gated calcium channel activity GO:0008331 9.16 CACNA1S CACNB1
3 voltage-gated calcium channel activity GO:0005245 8.92 CACNA1S CACNB1 CACNG1 RYR1
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Sources for Malignant Hyperthermia Susceptibility

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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