MCID: MLG056
MIFTS: 60

Malignant Hyperthermia

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

Aliases & Classifications for Malignant Hyperthermia

MalaCards integrated aliases for Malignant Hyperthermia:

Name: Malignant Hyperthermia 12 72 49 24 28 41 14
Anesthesia Related Hyperthermia 12 49 24
Malignant Hyperpyrexia Due to Anesthesia 12 69
Malignant Hyperpyrexia 49 24
Mhs - Malignant Hyperthermia 24
Fulminating Hyperpyrexia 49
Hyperpyrexia, Malignant 24
Hyperthermia, Malignant 24
Hyperpyrexia Malignant 49
Pharmacogenic Myopathy 49
Malignant Fever 69
Mh 49

Classifications:



External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 34 995.86
MeSH 41 D008305
NCIt 46 C84869

Summaries for Malignant Hyperthermia

NIH Rare Diseases : 49 Malignant hyperthermia (MH) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (rhabdomyolysis). Without prompt treatment, MH can be life-threatening. People who are at increased risk for this reaction are said to have MH susceptibility. Susceptibility to MH may be caused by mutations in any of several genes and is inherited in an autosomal dominant manner. People with certain inherited muscle diseases (e.g., central core disease and multiminicore disease) also have MH susceptibility. Last updated: 6/30/2014

MalaCards based summary : Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to malignant hyperthermia of anesthesia and native american myopathy, and has symptoms including postoperative nausea and vomiting, pain, postoperative and muscle rigidity. An important gene associated with Malignant Hyperthermia is MHS2 (Malignant Hyperthermia Susceptibility 2), and among its related pathways/superpathways are CREB Pathway and CCR5 Pathway in Macrophages. The drugs Dantrolene and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.

Genetics Home Reference : 24 Malignant hyperthermia is a severe reaction to particular drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening.

Wikipedia : 72 Malignant hyperthermia (MH) is a type of severe reaction that occurs to particular medications used... more...

Related Diseases for Malignant Hyperthermia

Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia of anesthesia 34.1 CACNA1S RYR1
2 native american myopathy 33.6 CACNA1S QDPR RYR1 STAC3
3 central core disease of muscle 33.0 CACNA1S RYR1 RYR2
4 malignant hyperthermia susceptibility 31.7 CACNA1S CACNB1 CACNG1 CASQ1 MHS2 MHS3
5 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 30.9 MB PIK3C2A RYR1
6 neuroleptic malignant syndrome 30.5 MB PIK3C2A RYR1
7 hypokalemic periodic paralysis, type 1 30.2 CACNA1S QDPR RYR1 SCN4A
8 periodic paralyses 30.2 CACNA1S SCN4A
9 hyperkalemic periodic paralysis 30.0 CACNA1S SCN4A
10 central core myopathy 29.9 CACNA1S QDPR RYR1 RYR2
11 neuromuscular disease 29.9 DMD RYR1 SCN4A
12 myoglobinuria 29.7 CPT2 MB PIK3C2A
13 brody myopathy 29.7 DMD RYR1
14 muscular dystrophy, duchenne type 29.5 DMD MB PIK3C2A
15 myopathy 29.3 CASQ1 CPT2 DMD MB PIK3C2A RYR1
16 catecholaminergic polymorphic ventricular tachycardia 29.0 ASPH CALR CASQ1 RYR1 RYR2
17 malignant hyperthermia 1 12.6
18 malignant hyperthermia 2 12.5
19 malignant hyperthermia 5 12.4
20 malignant hyperthermia 3 12.4
21 malignant hyperthermia 4 12.4
22 malignant hyperthermia 6 12.4
23 malignant hyperthermia arthrogryposis torticollis 12.3
24 exercise-induced malignant hyperthermia 12.2
25 contractures, congenital, torticollis, and malignant hyperthermia 12.1
26 myoglobinuria, acute recurrent, autosomal recessive 11.3
27 arthrogryposis, distal, type 2a 11.0
28 hypokalemic periodic paralysis, type 2 10.4 QDPR SCN4A
29 arrhythmogenic right ventricular dysplasia, familial, 2 10.4 RYR1 RYR2
30 cardiac conduction defect 10.4 RYR1 RYR2
31 virus associated hemophagocytic syndrome 10.4 MB PIK3C2A
32 interstitial myocarditis 10.3 MB PIK3C2A
33 muscle disorders 10.3 PIK3C2A RYR1 RYR2
34 familial periodic paralysis 10.3 CACNA1S QDPR RYR1 SCN4A
35 myoglobinuria, recurrent 10.2 CPT2 DMD
36 pseudohyperkalemia, familial, 2, due to red cell leak 10.2 MB PIK3C2A SCN4A
37 graves disease 1 10.2 CACNA1S SCN4A
38 posterior myocardial infarction 10.2 MB PIK3C2A
39 creatine phosphokinase, elevated serum 10.1 DMD MB PIK3C2A
40 chromosome xp21 deletion syndrome 10.1 DMD PIK3C2A
41 arrhythmogenic right ventricular cardiomyopathy 10.1 CACNA1S DMD RYR1 RYR2
42 myositis 10.0 DMD MB PIK3C2A
43 muscular dystrophy 10.0
44 myopathy, tubular aggregate, 1 10.0 CALR CASQ1 QDPR RYR1
45 muscle tissue disease 10.0 DMD MB PIK3C2A RYR1
46 cardiac arrest 10.0
47 myotonia 10.0
48 myositis fibrosa 9.9 MB PIK3C2A
49 rigidity and multifocal seizure syndrome, lethal neonatal 9.9
50 larsen syndrome 9.9

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



Diseases related to Malignant Hyperthermia

Symptoms & Phenotypes for Malignant Hyperthermia

UMLS symptoms related to Malignant Hyperthermia:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 STAC3 RYR2 CPT2 ASPH DMD CACNA1S
2 homeostasis/metabolism MP:0005376 10.13 RYR2 SCN4A STAC3 CPT2 ASPH DMD
3 growth/size/body region MP:0005378 10.11 RYR2 SCN4A STAC3 CASQ1 RYR1 ASPH
4 mortality/aging MP:0010768 9.97 RYR2 SCN4A STAC3 CPT2 ASPH DMD
5 muscle MP:0005369 9.77 SCN4A STAC3 RYR2 ASPH DMD CACNA1S
6 limbs/digits/tail MP:0005371 9.73 STAC3 RYR1 ASPH DMD CACNA1S CACNB1
7 respiratory system MP:0005388 9.17 SCN4A STAC3 RYR1 CPT2 DMD CACNA1S

Drugs & Therapeutics for Malignant Hyperthermia

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dantrolene Approved, Investigational Phase 2 7261-97-4 6914273 2952
2
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
3 Peripheral Nervous System Agents Phase 2
4 Anesthetics Phase 2
5 Neuromuscular Agents Phase 2
6 Central Nervous System Depressants Phase 2
7 Anesthetics, General Phase 2
8 Anesthetics, Inhalation Phase 2
9 Platelet Aggregation Inhibitors Phase 2
10
Adenosine Approved, Investigational 58-61-7 60961
11
Menthol Approved 2216-51-5 16666
12
Halothane Approved, Vet_approved 151-67-7 3562
13
Caffeine Approved, Nutraceutical 58-08-2 2519
14 Analgesics
15 Neurotransmitter Agents
16 Vasodilator Agents
17 Anti-Arrhythmia Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Ryanodex as Adjuvant Treatment in Subjects With Psychostimulant Drug-Induced Toxicity (PDIT) Not yet recruiting NCT03189433 Phase 2 Ryanodex (dantrolene sodium) for injectable suspension
2 Sevoflurane Sedation on Intra Cranial Pressure in Traumatic Brain Injury Patients Terminated NCT01374633 Phase 2 1: Sevoflurane
3 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
4 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770
5 Effect of an Electronic Cognitive Aid Versus Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
6 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
7 Malignant Hyperthermia Registry and Genetic Testing Recruiting NCT02964481
8 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558

Search NIH Clinical Center for Malignant Hyperthermia

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


Cochrane evidence based reviews: malignant hyperthermia

Genetic Tests for Malignant Hyperthermia

Genetic tests related to Malignant Hyperthermia:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia 28

Anatomical Context for Malignant Hyperthermia

MalaCards organs/tissues related to Malignant Hyperthermia:

38
Skeletal Muscle, Heart, Testes, Brain, Liver, Thyroid, Placenta

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 818)
# Title Authors Year
1
Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174122 )
2018
2
CASQ1 Gene Is an Unlikely Candidate for Malignant Hyperthermia Susceptibility in the North American Population: Erratum. ( 29443706 )
2018
3
Voltage modulates halothane-triggered Ca<sup>2+</sup>release in malignant hyperthermia-susceptible muscle. ( 29247050 )
2018
4
In Response To: Myopathy and Noncompaction Detected After Malignant Hyperthermia During Cardiac Surgery. ( 29174126 )
2018
5
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. ( 29344738 )
2018
6
Functional and Structural Characterization of a Novel Malignant Hyperthermia-susceptible variant of DHPR-I^<sub>1a</sub>subunit (CACNB1). ( 29212769 )
2017
7
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings. ( 28430550 )
2017
8
Undiagnosed Pheochromocytoma Simulating Malignant Hyperthermia. ( 28665830 )
2017
9
Successful early application of extracorporeal membrane oxygenation to support cardiopulmonary resuscitation for a patient suffering from severe malignant hyperthermia and cardiac arrest: a case report. ( 28580087 )
2017
10
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
11
Mind the magnesium, in dantrolene suppression of malignant hyperthermia. ( 28442565 )
2017
12
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
13
Malignant Hyperthermia ( 28613578 )
2017
14
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. ( 28259615 )
2017
15
Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. ( 29101530 )
2017
16
Prevalence of malignant hyperthermia diagnosis in hospital discharge records in California, Florida, New York, and Wisconsin. ( 28494877 )
2017
17
Postoperative Malignant Hyperthermia- A Medical Emergency: A Case Report and Review of Literature. ( 28571205 )
2017
18
Incidence of malignant hyperthermia in patients undergoing general anesthesia: Protocol for a systematic review and meta-analysis. ( 29245345 )
2017
19
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
20
Case Report of a Patient With Idiopathic Hypersomnia and a Family History of Malignant Hyperthermia Undergoing General Anesthesia: An Overview of the Anesthetic Considerations. ( 28328583 )
2017
21
Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. ( 28465322 )
2017
22
Dantrolene requires Mg(2+) to arrest malignant hyperthermia. ( 28373535 )
2017
23
JSA guideline for the management of malignant hyperthermia crisis 2016. ( 28246924 )
2017
24
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
25
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
26
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
27
Malignant Hyperthermia in a Morbidly Obese Patient Depletes Community Dantrolene Resources: A Case Report. ( 28697029 )
2017
28
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
29
Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy. ( 28303866 )
2017
30
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis. ( 29137581 )
2017
31
Confusing Terminology-Neuroleptic Malignant Syndrome vs Malignant Hyperthermia-Reply. ( 28558105 )
2017
32
Delayed Development of Malignant Hyperthermia Following Cardiopulmonary Bypass. ( 28922985 )
2017
33
Simulation-Based Training: Malignant Hyperthermia. ( 28755668 )
2017
34
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
35
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. ( 28902675 )
2017
36
Malignant Hyperthermia Versus Thyroid Storm in a Patient With Symptomatic Graves Disease: A Case Report. ( 29028638 )
2017
37
The use of activated charcoal filters in anaesthetic circuits in suspected malignant hyperthermia. ( 29047129 )
2017
38
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
39
Anesthesia-induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important? ( 28306187 )
2017
40
Administration of anaesthetic triggering agents to patients tested malignant hyperthermia normal and their relatives in New Zealand: an update. ( 28911291 )
2017
41
Keeping Cool When Things Heat Up During a Malignant Hyperthermia Crisis. ( 28987207 )
2017
42
A case report of suspected malignant hyperthermia where patient survived the episode. ( 28442967 )
2017
43
Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore. ( 29355282 )
2017
44
Suspected Malignant Hyperthermia in the Setting of Hypothermic Circulatory Arrest for Type A Aortic Dissection Repair: A Case Report. ( 28079659 )
2017
45
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
46
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. ( 28403410 )
2017
47
Confusing Terminology-Neuroleptic Malignant Syndrome vs Malignant Hyperthermia. ( 28558090 )
2017
48
Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. ( 28687594 )
2017
49
The use of a checklist improves anaesthesiologists' technical and non-technical performance for simulated malignant hyperthermia management. ( 28939466 )
2017
50
Research shines new light on malignant hyperthermia. ( 27295843 )
2016

Variations for Malignant Hyperthermia

Expression for Malignant Hyperthermia

Search GEO for disease gene expression data for Malignant Hyperthermia.

Pathways for Malignant Hyperthermia

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 CACNA1S CACNA2D1 CACNB1 CACNG1 QDPR RYR1
2
Show member pathways
12.74 CACNA1S CACNA2D1 CACNB1 CACNG1 CALR
3
Show member pathways
12.64 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 DMD
4
Show member pathways
12.63 CACNA1S CACNA2D1 CACNB1 CACNG1
5
Show member pathways
12.62 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
6
Show member pathways
12.61 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
7
Show member pathways
12.44 CACNA1S CACNB1 CALR CASQ1 RYR1 RYR2
8
Show member pathways
12.34 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR2
9
Show member pathways
12.33 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR1
10
Show member pathways
12.16 CACNA1S CACNA2D1 CACNB1 CACNG1
11
Show member pathways
12.12 CACNA1S CACNA2D1 CACNB1 CACNG1 DMD RYR2
12
Show member pathways
11.93 CACNA1S CACNA2D1 CACNB1 CACNG1
13 11.85 CACNA1S CACNA2D1 CACNB1 CACNG1 CALR RYR1
14 11.72 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR2
15
Show member pathways
11.64 CACNA1S CACNA2D1 CACNB1 CACNG1 SCN4A
16 11.46 CACNA1S CACNA2D1 CACNB1
17 11.26 CACNA1S CACNA2D1 CACNB1 CACNG1
18 11.12 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
19 10.68 RYR1 RYR2
20 10.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1

GO Terms for Malignant Hyperthermia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.71 CACNA1S CACNB1 CASQ1 DMD
2 T-tubule GO:0030315 9.62 CACNA1S CACNA2D1 CASQ1 RYR1
3 sarcoplasmic reticulum membrane GO:0033017 9.56 ASPH CASQ1 RYR1 RYR2
4 I band GO:0031674 9.54 CACNA1S CASQ1 RYR1
5 junctional sarcoplasmic reticulum membrane GO:0014701 9.49 RYR1 RYR2
6 sarcoplasmic reticulum lumen GO:0033018 9.48 CALR CASQ1
7 L-type voltage-gated calcium channel complex GO:1990454 9.46 CACNA1S CACNA2D1
8 smooth endoplasmic reticulum GO:0005790 9.46 CALR CASQ1 RYR1 RYR2
9 terminal cisterna GO:0014802 9.43 CASQ1 RYR1
10 voltage-gated calcium channel complex GO:0005891 9.35 CACNA1S CACNA2D1 CACNB1 CACNG1 STAC3
11 sarcoplasmic reticulum GO:0016529 9.1 ASPH CACNA2D1 CALR CASQ1 RYR1 RYR2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
2 ion transmembrane transport GO:0034220 9.85 ASPH CASQ1 RYR1 RYR2 SCN4A
3 cellular calcium ion homeostasis GO:0006874 9.76 CALR RYR1 RYR2
4 regulation of cardiac conduction GO:1903779 9.71 ASPH CASQ1 RYR1 RYR2
5 cardiac conduction GO:0061337 9.67 CACNA1S CACNA2D1 CACNB1 CACNG1
6 muscle contraction GO:0006936 9.65 ASPH CACNA1S CACNG1 RYR1 SCN4A
7 regulation of ion transmembrane transport GO:0034765 9.63 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 SCN4A
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.61 CASQ1 DMD
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.6 DMD RYR2
10 response to muscle stretch GO:0035994 9.59 DMD RYR2
11 calcium ion transport into cytosol GO:0060402 9.58 CACNA2D1 RYR2
12 response to caffeine GO:0031000 9.57 RYR1 RYR2
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.56 CASQ1 DMD
14 regulation of voltage-gated calcium channel activity GO:1901385 9.55 CACNB1 DMD
15 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.54 RYR1 RYR2
16 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.52 CACNA2D1 CACNB1
17 sarcoplasmic reticulum calcium ion transport GO:0070296 9.51 CACNG1 RYR2
18 cellular response to caffeine GO:0071313 9.5 CACNA1S RYR1 RYR2
19 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.48 CASQ1 DMD
20 calcium ion transport GO:0006816 9.43 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
21 calcium ion transmembrane transport GO:0070588 9.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2
22 transport GO:0006810 10.15 CACNA1S CACNA2D1 CACNB1 CACNG1 CPT2 MB

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.58 RYR1 RYR2 SCN4A
2 calcium-release channel activity GO:0015278 9.37 RYR1 RYR2
3 voltage-gated calcium channel activity GO:0005245 9.35 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1
4 high voltage-gated calcium channel activity GO:0008331 9.32 CACNA1S CACNB1
5 calcium-induced calcium release activity GO:0048763 9.26 RYR1 RYR2
6 ryanodine-sensitive calcium-release channel activity GO:0005219 9.16 RYR1 RYR2
7 calcium channel activity GO:0005262 9.1 CACNA1S CACNA2D1 CACNB1 CACNG1 RYR1 RYR2

Sources for Malignant Hyperthermia

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
Content
Loading form....