Aliases & Classifications for Malignant Hyperthermia Susceptibility

MalaCards integrated aliases for Malignant Hyperthermia Susceptibility:

Name: Malignant Hyperthermia Susceptibility 23 28
Malignant Hyperpyrexia Due to Anesthesia 69
Malignant Hyperpyrexia 23

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...

Summaries for Malignant Hyperthermia Susceptibility

MalaCards based summary : Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia due to anesthesia, is related to central core disease of muscle and central core myopathy, and has symptoms including postoperative nausea and vomiting, pain, postoperative and muscle rigidity. An important gene associated with Malignant Hyperthermia Susceptibility is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Affiliated tissues include testes, skeletal muscle and liver, and related phenotype is muscle.

GeneReviews: NBK1146

Related Diseases for Malignant Hyperthermia Susceptibility

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 30.3 CACNA1S RYR1
2 central core myopathy 30.0 CACNA1S RYR1
3 malignant hyperthermia 27.9 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
4 malignant hyperthermia 1 11.9
5 malignant hyperthermia 2 11.8
6 malignant hyperthermia 3 11.5
7 malignant hyperthermia 4 11.5
8 malignant hyperthermia 5 11.5
9 malignant hyperthermia 6 11.5
10 malignant hyperthermia of anesthesia 10.3 CACNA1S RYR1
11 native american myopathy 10.3 CACNA1S RYR1
12 myopathy 10.2
13 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
14 periodic paralyses 10.1 CACNA1S SCN4A
15 hyperkalemic periodic paralysis 10.1 CACNA1S SCN4A
16 graves disease 1 10.0 CACNA1S SCN4A
17 rigidity and multifocal seizure syndrome, lethal neonatal 10.0
18 myotonic disease 10.0 RYR1 SCN4A
19 familial periodic paralysis 10.0 CACNA1S RYR1 SCN4A
20 hypokalemic periodic paralysis, type 1 9.9 CACNA1S RYR1 SCN4A
21 myopathy due to myoadenylate deaminase deficiency 9.9
22 allergic hypersensitivity disease 9.9
23 neuroleptic malignant syndrome 9.9
24 adenosine monophosphate deaminase 1 deficiency 9.9
25 metal metabolism disorder 9.9 CACNA1S SCN4A
26 myopathy, tubular aggregate, 1 9.9 CASQ1 RYR1
27 apnea, obstructive sleep 9.8
28 blood group--diego system 9.8
29 carney complex, type 1 9.8
30 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.8
31 mitochondrial myopathy 9.8
32 myopathy, congenital 9.8
33 brody myopathy 9.8
34 brittle bone disorder 9.8
35 rippling muscle disease 2 9.8
36 mungan syndrome 9.8
37 motor neuron disease 9.8
38 sleep apnea 9.8
39 scoliosis 9.8
40 ptosis 9.8
41 congenital ptosis 9.8
42 thrombosis 9.8
43 placenta praevia 9.8
44 mitochondrial metabolism disease 9.8
45 neuronitis 9.8
46 muscular dystrophy 9.8
47 mitochondrial disorders 9.8

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



Diseases related to Malignant Hyperthermia Susceptibility

Symptoms & Phenotypes for Malignant Hyperthermia Susceptibility

UMLS symptoms related to Malignant Hyperthermia Susceptibility:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia Susceptibility:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 RYR1

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

Search Clinical Trials , NIH Clinical Center for Malignant Hyperthermia Susceptibility

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Malignant Hyperthermia Susceptibility

Genetic tests related to Malignant Hyperthermia Susceptibility:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility 28

Anatomical Context for Malignant Hyperthermia Susceptibility

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

38
Testes, Skeletal Muscle, Liver, Placenta

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 227)
# Title Authors Year
1
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
2
Voltage modulates halothane-triggered Ca<sup>2+</sup>release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
3
Functional and Structural Characterization of a Novel Malignant Hyperthermia-susceptible variant of DHPR-I^<sub>1a</sub>subunit (CACNB1). ( 29212769 )
2017
4
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
5
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
6
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
7
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
8
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
9
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
10
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis. ( 29137581 )
2017
11
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
12
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
13
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
14
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. ( 27555149 )
2016
15
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. ( 27854207 )
2016
16
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. ( 26218487 )
2015
17
Effect of caffeine on intrinsic mechanical properties of normal and malignant hyperthermia-susceptible muscle. ( 25619865 )
2015
18
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. ( 26691049 )
2015
19
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. ( 25958340 )
2015
20
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. ( 26188342 )
2015
21
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
22
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. ( 25086907 )
2014
23
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014
24
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. ( 23842196 )
2014
25
Myopathic changes in malignant hyperthermia-susceptible patients. ( 23897489 )
2013
26
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. ( 23923663 )
2013
27
Analysis of histomorphology in malignant hyperthermia-susceptible patients. ( 23888335 )
2013
28
Core myopathies and malignant hyperthermia susceptibility: a review. ( 23617272 )
2013
29
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ( 23476141 )
2013
30
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. ( 23558838 )
2013
31
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. ( 23460944 )
2013
32
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. ( 24455316 )
2013
33
Using exome data to identify malignant hyperthermia susceptibility mutations. ( 24195946 )
2013
34
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. ( 23957432 )
2013
35
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
36
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. ( 22139840 )
2012
37
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. ( 22431093 )
2012
38
Ondansetron-induced muscular contractures in malignant hyperthermia-susceptible individuals. ( 22696611 )
2012
39
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. ( 22577915 )
2012
40
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
41
A medical student with malignant hyperthermia susceptibility. ( 22417041 )
2012
42
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
43
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. ( 22547813 )
2012
44
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
45
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. ( 23256268 )
2011
46
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: when are they really clean? ( 21791992 )
2011
47
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: a review of past and present practice. ( 21169802 )
2011
48
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. ( 21730923 )
2011
49
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. ( 21376345 )
2011
50
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. ( 21791993 )
2011

Variations for Malignant Hyperthermia Susceptibility

Expression for Malignant Hyperthermia Susceptibility

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

Pathways for Malignant Hyperthermia Susceptibility

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 CACNA1S CACNB1 CACNG1 CAV1 SCN4A
2
Show member pathways
12.49 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
3
Show member pathways
12.45 CACNA1S CACNB1 CACNG1 RYR1
4
Show member pathways
12.25 CACNA1S CACNB1 CASQ1 RYR1
5
Show member pathways
12.19 CACNA1S CACNB1 CACNG1 RYR1
6
Show member pathways
12.14 CACNA1S CACNB1 CACNG1
7 12.08 CACNA1S CACNB1 CACNG1
8
Show member pathways
11.95 CACNA1S CACNB1 CACNG1 CAV1
9
Show member pathways
11.94 CACNA1S CACNB1 CACNG1
10
Show member pathways
11.78 CACNA1S CACNB1 CACNG1
11 11.71 CACNA1S CACNB1 CACNG1 RYR1
12 11.47 CACNA1S CACNB1 CACNG1
13
Show member pathways
11.33 CACNA1S CACNB1 CACNG1 SCN4A
14 11.12 CACNA1S CACNB1 CACNG1
15 11.1 CACNA1S CACNB1
16 10.95 CACNA1S CACNB1 CACNG1 RYR1
17 10 CACNA1S CACNB1 CACNG1 RYR1

GO Terms for Malignant Hyperthermia Susceptibility

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.5 CACNA1S CACNB1 CASQ1
2 sarcoplasmic reticulum GO:0016529 9.43 CASQ1 RYR1
3 sarcoplasmic reticulum membrane GO:0033017 9.4 CASQ1 RYR1
4 smooth endoplasmic reticulum GO:0005790 9.37 CASQ1 RYR1
5 T-tubule GO:0030315 9.33 CACNA1S CASQ1 RYR1
6 terminal cisterna GO:0014802 9.26 CASQ1 RYR1
7 voltage-gated calcium channel complex GO:0005891 9.13 CACNA1S CACNB1 CACNG1
8 I band GO:0031674 8.8 CACNA1S CASQ1 RYR1

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

(show all 13)
# 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 9.69 CASQ1 RYR1 SCN4A
3 calcium ion transmembrane transport GO:0070588 9.56 CACNA1S CACNB1 CACNG1 RYR1
4 skeletal muscle tissue development GO:0007519 9.52 CASQ1 CAV1
5 cardiac conduction GO:0061337 9.5 CACNA1S CACNB1 CACNG1
6 lactation GO:0007595 9.49 CAV1 NME1
7 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CAV1 RYR1
8 mammary gland development GO:0030879 9.46 CAV1 NME1
9 muscle contraction GO:0006936 9.46 CACNA1S CACNG1 RYR1 SCN4A
10 membrane depolarization during action potential GO:0086010 9.43 CACNA1S SCN4A
11 cellular response to caffeine GO:0071313 9.37 CACNA1S RYR1
12 regulation of ion transmembrane transport GO:0034765 9.35 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
13 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:

# 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

Sources for Malignant Hyperthermia Susceptibility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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