MCID: MLG086
MIFTS: 44

Malignant Hyperthermia Susceptibility

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Malignant Hyperthermia Susceptibility

MalaCards integrated aliases 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:



Summaries for Malignant Hyperthermia Susceptibility

MalaCards based summary : Malignant Hyperthermia Susceptibility, also known as malignant hyperpyrexia, is related to malignant hyperthermia susceptibility 1 and malignant hyperthermia susceptibility 5, 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 Adenosine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and liver, and related phenotype is muscle.

GeneReviews: NBK1146

Related Diseases for Malignant Hyperthermia Susceptibility

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 43)
id Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 1 12.3
2 malignant hyperthermia susceptibility 5 12.1
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 undifferentiated embryonal sarcoma of the liver 10.5 CACNA1S RYR1
15 melanoma, cutaneous malignant, 3 10.4 CACNA1S RYR1
16 postinfectious encephalomyelitis 10.2 CACNA1S SCN4A
17 stormorken syndrome 10.2 CASQ1 RYR1
18 myopathy 10.2
19 paramyotonia congenita 10.1 CACNA1S SCN4A
20 amelogenesis imperfecta, hypomaturation type, iia6 10.1 CACNA1S SCN4A
21 central nervous system angiosarcoma 10.1 RYR1 SCN4A
22 monocular esotropia 10.0 CACNA1S RYR1 SCN4A
23 minicore myopathy with external ophthalmoplegia 10.0 CACNA1S RYR1
24 hypokalemic periodic paralysis, type 1 9.9 CACNA1S RYR1 SCN4A
25 central core disease 9.9
26 narcolepsy 9.9 CACNA1S SCN4A
27 neuroleptic malignant syndrome 9.9
28 brody myopathy 9.7
29 rippling muscle disease 9.7
30 motor neuron disease 9.7
31 sleep apnea 9.7
32 obstructive sleep apnea 9.7
33 scoliosis 9.7
34 ptosis 9.7
35 thrombosis 9.7
36 congenital myopathy 9.7
37 placenta praevia 9.7
38 osteogenesis imperfecta 9.7
39 neuronitis 9.7
40 muscular dystrophy 9.7
41 mitochondrial disorders 9.7
42 oropharynx cancer 8.8 CACNA1S CACNG1 CASQ1 RYR1 SCN4A
43 mitochondrial dna deletion syndromes 5.8 CACNA1S CACNB1 CACNG1 CASQ1 CAV1 MHS2

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:


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

Drugs & Therapeutics for Malignant Hyperthermia Susceptibility

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational 58-61-7 60961
2
Menthol Approved 2216-51-5 16666
3 Analgesics
4 Anti-Arrhythmia Agents
5 Neurotransmitter Agents
6 Peripheral Nervous System Agents
7 Vasodilator Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
2 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
3 Exercise Capacity and Physical Activity Levels in Newly Diagnosed Hematologic Malignant Patients Recruiting NCT03212560
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 :


Genetic Tests for Malignant Hyperthermia Susceptibility

Genetic tests related to Malignant Hyperthermia Susceptibility:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia Susceptibility 29 24 RYR1

Anatomical Context for Malignant Hyperthermia Susceptibility

MalaCards organs/tissues related to Malignant Hyperthermia Susceptibility:

39
Testes, Skeletal Muscle, Liver, Placenta

Publications for Malignant Hyperthermia Susceptibility

Articles related to Malignant Hyperthermia Susceptibility:

(show top 50) (show all 223)
id Title Authors Year
1
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
2
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
3
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
4
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
5
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
6
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
7
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
8
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
9
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
10
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. ( 27555149 )
2016
11
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. ( 27854207 )
2016
12
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. ( 26188342 )
2015
13
Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. ( 26691049 )
2015
14
Effect of caffeine on intrinsic mechanical properties of normal and malignant hyperthermia-susceptible muscle. ( 25619865 )
2015
15
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. ( 25958340 )
2015
16
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. ( 26218487 )
2015
17
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014
18
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. ( 23842196 )
2014
19
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
20
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. ( 25086907 )
2014
21
Activated charcoal adsorption of volatile anesthetic agents for anesthesia machine preparation of malignant hyperthermia susceptible patients. ( 23923663 )
2013
22
Myopathic changes in malignant hyperthermia-susceptible patients. ( 23897489 )
2013
23
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. ( 23558838 )
2013
24
Analysis of histomorphology in malignant hyperthermia-susceptible patients. ( 23888335 )
2013
25
CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. ( 23460944 )
2013
26
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. ( 23957432 )
2013
27
Core myopathies and malignant hyperthermia susceptibility: a review. ( 23617272 )
2013
28
Using exome data to identify malignant hyperthermia susceptibility mutations. ( 24195946 )
2013
29
A minimal-invasive metabolic test detects malignant hyperthermia susceptibility in a patient after sevoflurane-induced metabolic crisis. ( 24455316 )
2013
30
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. ( 22976939 )
2013
31
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. ( 23476141 )
2013
32
Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice. ( 22431093 )
2012
33
Ondansetron-induced muscular contractures in malignant hyperthermia-susceptible individuals. ( 22696611 )
2012
34
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients. ( 22577915 )
2012
35
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
36
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
37
A medical student with malignant hyperthermia susceptibility. ( 22417041 )
2012
38
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. ( 22547813 )
2012
39
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
40
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle. ( 22139840 )
2012
41
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: when are they really clean? ( 21791992 )
2011
42
Sevoflurane as a potential replacement for halothane in diagnostic testing for malignant hyperthermia susceptibility: results of a preliminary study. ( 21730923 )
2011
43
Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. ( 21156754 )
2011
44
New device simplifies workstation preparation for malignant hyperthermia-susceptible patients. ( 21791993 )
2011
45
Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. ( 20978128 )
2011
46
Preparation of modern anesthesia workstations for malignant hyperthermia-susceptible patients: a review of past and present practice. ( 21169802 )
2011
47
Effects of theophylline on anesthetized malignant hyperthermia-susceptible pigs. ( 22131820 )
2011
48
Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases. ( 21376345 )
2011
49
Renal transplantation from an unrelated living donor to a malignant hyperthermia-susceptible patient: a case report. ( 23256268 )
2011
50
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. ( 20544946 )
2010

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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 CACNA1S CACNB1 CACNG1 RYR1
2
Show member pathways
12.56 CACNA1S CACNB1 CACNG1 CAV1 SCN4A
3
Show member pathways
12.49 CACNA1S CACNB1 CACNG1 RYR1 SCN4A
4
Show member pathways
12.25 CACNA1S CACNB1 CASQ1 RYR1
5
Show member pathways
12.12 CACNA1S CACNB1 CACNG1
6 12.06 CACNA1S CACNB1 CACNG1
7
Show member pathways
11.95 CACNA1S CACNB1 CACNG1 CAV1
8
Show member pathways
11.77 CACNA1S CACNB1 CACNG1
9 11.71 CACNA1S CACNB1 CACNG1 RYR1
10 11.5 CACNA1S CACNB1 CACNG1
11
Show member pathways
11.33 CACNA1S CACNB1 CACNG1 SCN4A
12 11.08 CACNA1S CACNB1
13 10.95 CACNA1S CACNB1 CACNG1 RYR1
14 10 CACNA1S CACNB1 CACNG1 RYR1

GO Terms for Malignant Hyperthermia Susceptibility

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 9.43 CASQ1 RYR1
2 sarcoplasmic reticulum membrane GO:0033017 9.4 CASQ1 RYR1
3 smooth endoplasmic reticulum GO:0005790 9.37 CASQ1 RYR1
4 T-tubule GO:0030315 9.33 CACNA1S CASQ1 RYR1
5 sarcolemma GO:0042383 9.32 CACNB1 CASQ1
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)
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 9.69 CASQ1 RYR1 SCN4A
3 regulation of ion transmembrane transport GO:0034765 9.56 CACNA1S CACNB1 CACNG1 SCN4A
4 skeletal muscle tissue development GO:0007519 9.52 CASQ1 CAV1
5 cardiac conduction GO:0061337 9.5 CACNA1S CACNB1 CACNG1
6 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CAV1 RYR1
7 calcium ion transmembrane transport GO:0070588 9.46 CACNA1S CACNB1 CACNG1 RYR1
8 membrane depolarization during action potential GO:0086010 9.43 CACNA1S SCN4A
9 cellular response to caffeine GO:0071313 9.37 CACNA1S RYR1
10 muscle contraction GO:0006936 9.26 CACNA1S CACNG1 RYR1 SCN4A
11 lactation GO:0007595 9.19 CAV1
12 mammary gland development GO:0030879 9.16 CAV1
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:

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

Sources for Malignant Hyperthermia Susceptibility

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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