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MH
MCID: MLG056
MIFTS: 67

Malignant Hyperthermia (MH)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Malignant Hyperthermia

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MalaCards integrated aliases for Malignant Hyperthermia:

Name: Malignant Hyperthermia 12 74 52 25 29 6 43 15
Anesthesia Related Hyperthermia 12 52 25
Malignant Hyperpyrexia Due to Anesthesia 12 71
Malignant Hyperthermia of Anesthesia 52 58
Hyperthermia of Anesthesia 52 58
Malignant Hyperpyrexia 52 25
Fulminating Hyperpyrexia 52
Hyperpyrexia, Malignant 25
Hyperthermia, Malignant 25
Hyperpyrexia Malignant 52
Pharmacogenic Myopathy 52
Malignant Fever 71
Mhs 25
Mh 52

Characteristics:

Orphanet epidemiological data:

58
malignant hyperthermia of anesthesia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Blood diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:8545
ICD9CM 34 995.86
MeSH 43 D008305
NCIt 49 C84869
SNOMED-CT 67 213026003
ICD10 32 T88.3
MESH via Orphanet 44 D008305
ICD10 via Orphanet 33 T88.3
UMLS via Orphanet 72 C0024591
Orphanet 58 ORPHA423
UMLS 71 C0024591 C2930828
Sources

Summaries for Malignant Hyperthermia

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Genetics Home Reference : 25 Malignant hyperthermia is a severe reaction to particular anesthetic 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, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate and body temperature (hyperthermia), abnormally fast breathing, muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). Without prompt treatment and cessation of the drugs, the body's reaction can cause multiple organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be life-threatening. (In medicine, the term malignant refers to conditions that are dangerous to one's health.) People at increased risk of this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they have a severe reaction to anesthesia during a surgical procedure or they undergo testing (for instance, if susceptibility is suspected because a family member had a severe reaction). Malignant hyperthermia may not occur every time anesthesia is used. Many individuals who develop a severe reaction have previously been exposed to a triggering drug and not had a reaction. Affected individuals may be at increased risk for "awake" malignant hyperthermia, in which the severe reaction occurs in response to physical activity, often while sick, rather than in reaction to exposure to a triggering drug. While malignant hyperthermia often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with malignant hyperthermia susceptibility.

MalaCards based summary : Malignant Hyperthermia, also known as anesthesia related hyperthermia, is related to myopathy, congenital, bailey-bloch and malignant hyperthermia susceptibility, and has symptoms including fever, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are CREB Pathway and Cardiac conduction. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are fever and malignant hyperthermia

Disease Ontology : 12 A muscle tissue 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.

NIH Rare Diseases : 52 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.

Wikipedia : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more...

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Related Diseases for Malignant Hyperthermia

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Diseases in the Malignant Hyperthermia family:

Malignant Hyperthermia 1 Malignant Hyperthermia 2
Malignant Hyperthermia 3 Malignant Hyperthermia 4
Malignant Hyperthermia 5 Malignant Hyperthermia 6
Rare Disease with Malignant Hyperthermia

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

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, bailey-bloch 34.6 STAC3 RYR1 CACNA1S
2 malignant hyperthermia susceptibility 34.4 STAC3 SCN4A RYR1 MHS6 MHS4 MHS3
3 central core disease of muscle 34.1 RYR2 RYR1 CACNA1S
4 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 32.1 SCN4A PIK3C2A MB CPT2
5 neuroleptic malignant syndrome 31.8 RYR1 PIK3C2A MB
6 myopathy 31.8 STAC3 SCN4A RYR2 RYR1 PIK3C2A MB
7 myoglobinuria 31.7 PIK3C2A MB DMD CPT2
8 myopathy, congenital 31.5 STAC3 RYR1 DMD
9 periodic paralysis 31.5 SCN4A RYR1 CACNA1S
10 muscular dystrophy 31.4 SCN4A RYR2 RYR1 PIK3C2A MB LAMA2
11 neuromuscular disease 31.4 SCN4A RYR2 RYR1 MB LAMA2 DMD
12 acute kidney failure 31.4 PIK3C2A MB CPT2
13 muscular dystrophy, duchenne type 31.3 PIK3C2A MB LAMA2 DMD
14 hypokalemic periodic paralysis, type 1 31.3 SCN4A RYR1 QDPR CACNG1 CACNA1S
15 ptosis 31.2 STAC3 SCN4A RYR1 LAMA2 DMD
16 muscular dystrophy, becker type 31.1 PIK3C2A LAMA2 DMD
17 central core myopathy 31.1 RYR2 RYR1 QDPR CASQ1 CACNA1S ASPH
18 respiratory failure 30.9 RYR1 PIK3C2A LAMA2 DMD CPT2
19 creatine phosphokinase, elevated serum 30.8 PIK3C2A MB LAMA2 DMD
20 catecholaminergic polymorphic ventricular tachycardia 30.7 RYR2 RYR1 CASQ1 CACNA2D1 ASPH
21 skeletal muscle disease 30.7 RYR1 CASQ1
22 periodic paralyses 30.6 SCN4A CACNA1S
23 brody myopathy 30.6 RYR1 DMD CASQ1
24 isolated elevated serum creatine phosphokinase levels 30.6 SCN4A RYR2 RYR1 PIK3C2A MB LAMA2
25 congenital fiber-type disproportion 30.5 RYR1 QDPR LAMA2 DMD CACNA1S
26 muscular disease 30.5 RYR1 PIK3C2A MB LAMA2 DMD
27 myositis 30.5 RYR1 PIK3C2A MB DMD
28 brugada syndrome 30.5 SCN4A RYR2 DMD CACNA2D1 CACNA1S
29 atrial standstill 1 30.3 RYR2 DMD CPT2
30 hypertrophic cardiomyopathy 30.3 RYR2 PIK3C2A MB LAMA2 DMD CACNB1
31 malignant hyperthermia 1 12.9
32 malignant hyperthermia 5 12.8
33 malignant hyperthermia 2 12.8
34 malignant hyperthermia 4 12.8
35 malignant hyperthermia 3 12.8
36 malignant hyperthermia 6 12.8
37 malignant hyperthermia arthrogryposis torticollis 12.6
38 exercise-induced malignant hyperthermia 12.6
39 contractures, congenital, torticollis, and malignant hyperthermia 12.5
40 stac3 disorder 12.4
41 rare disease with malignant hyperthermia 12.3
42 arthrogryposis, distal, type 2a 11.9
43 multiminicore disease 11.9
44 myotonia congenita 11.6
45 myotonia congenita, autosomal recessive 11.6
46 myoglobinuria, acute recurrent, autosomal recessive 11.3
47 congenital disorder of glycosylation, type it 11.3
48 familial periodic paralysis 10.7 SCN4A RYR1 CACNA1S
49 congenital structural myopathy 10.7 RYR2 RYR1 CACNA1S
50 glycogen storage disease v 10.7 RYR1 MB CPT2 CACNA1S

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



Diseases related to Malignant Hyperthermia
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Symptoms & Phenotypes for Malignant Hyperthermia

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Human phenotypes related to Malignant Hyperthermia:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
2 malignant hyperthermia 58 31 frequent (33%) Frequent (79-30%) HP:0002047
3 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
4 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
5 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
6 hyperphosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0002905
7 intermittent painful muscle spasms 58 31 frequent (33%) Frequent (79-30%) HP:0011964
8 ventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004756
9 supraventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004755
10 hypercapnia 58 31 frequent (33%) Frequent (79-30%) HP:0012416
11 cardiomyocyte mitochondrial proliferation 58 31 frequent (33%) Frequent (79-30%) HP:0031320
12 hyperkalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002153
13 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
14 acute kidney injury 58 31 occasional (7.5%) Occasional (29-5%) HP:0001919
15 ventricular extrasystoles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006682
16 acute rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008942
17 abnormality of masseter muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:3000005
18 abnormality of the coagulation cascade 58 31 occasional (7.5%) Occasional (29-5%) HP:0003256
19 myoglobinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002913
20 elevated creatine kinase after exercise 58 31 occasional (7.5%) Occasional (29-5%) HP:0008331
21 exercise-induced rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009045
22 necrotizing myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008978
23 high-output congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001722
24 abnormality of skeletal muscles 58 Frequent (79-30%)

UMLS symptoms related to Malignant Hyperthermia:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ASPH CACNA1S CACNA2D1 CASQ1 CPT2 DMD
2 cardiovascular system MP:0005385 10.07 ASPH CACNA1S CACNA2D1 CPT2 DMD MB
3 mortality/aging MP:0010768 10.07 ASPH CACNA1S CACNB1 CPT2 DMD LAMA2
4 muscle MP:0005369 9.97 ASPH CACNA1S CACNA2D1 CACNB1 CACNG1 CASQ1
5 respiratory system MP:0005388 9.56 CACNA1S CPT2 DMD LAMA2 MB RYR1
6 skeleton MP:0005390 9.28 CACNA1S CACNB1 CASQ1 CPT2 DMD LAMA2
Sources

Drugs & Therapeutics for Malignant Hyperthermia

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Succinylcholine Approved Phase 4 306-40-1 5314
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11 Anesthetics Phase 4
12 Hormones Phase 4
13 Tocolytic Agents Phase 4
14 Anticonvulsants Phase 4
15 Calcium, Dietary Phase 4
16 calcium channel blockers Phase 4
17 Anesthetics, General Phase 4
18 Anesthetics, Intravenous Phase 4
19 Neuromuscular Blocking Agents Phase 4
20 Excitatory Amino Acid Antagonists Phase 4
21 Anesthetics, Dissociative Phase 4
22 Psychotropic Drugs Phase 4
23 Anti-Anxiety Agents Phase 4
24 GABA Modulators Phase 4
25 Pharmaceutical Solutions Phase 4
26 Hypnotics and Sedatives Phase 4
27 Anti-Arrhythmia Agents Phase 4
28 Analgesics Phase 4
29 Neurotransmitter Agents Phase 4
30 Adrenergic alpha-Agonists Phase 4
31 Sodium Channel Blockers Phase 4
32 Adrenergic Agents Phase 4
33 Adrenergic Agonists Phase 4
34 Analgesics, Non-Narcotic Phase 4
35 Anesthetics, Local Phase 4
36 Diuretics, Potassium Sparing Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Remifentanil Approved Phase 3 132875-61-7 60815
39
Dantrolene Approved, Investigational Phase 2, Phase 3 7261-97-4 6914273 2952
40 Narcotics Phase 3
41 Analgesics, Opioid Phase 3
42
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
43 Anesthetics, Inhalation Phase 1, Phase 2
44 Respiratory System Agents Phase 1, Phase 2
45 Anti-Infective Agents Phase 1, Phase 2
46 Antidotes Phase 1, Phase 2
47 Antioxidants Phase 1, Phase 2
48 Antiviral Agents Phase 1, Phase 2
49 Expectorants Phase 1, Phase 2
50 N-monoacetylcystine Phase 1, Phase 2

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
2 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
3 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
4 A Randomized, Parallel-group, Safety-assessor-blinded Phase IV Study to Estimate the Influence of Mild Hypothermia on Reversal of Rocuronium-induced Neuromuscular Block With Sugammadex Completed NCT01965067 Phase 4 sugammadex
5 The Efficacy OF Oral DexmedetomidineVersus Oral Midazolam/Ketamine ON Parental Separation AND Face Mask Acceptance IN Pediatrics Undergoing Adenotonsillectomy Completed NCT03551067 Phase 4 Dexmedetomidine
6 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
7 Comparison Between Dexmedetomidine and Lidocaine as an Adjuvant to General Anesthesia in Patients Undergoing Major Abdominal Surgeries Not yet recruiting NCT03600493 Phase 4 Dexmedetomidine;Lidocaine
8 Assessment of Remifentanil for Rapid Sequence Induction and Intubation in Full Stomach Patient Compared to Muscle Relaxant. A Non-inferiority Simple Blind Randomized Controlled Trial Recruiting NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
9 Dantrolene as a Treatment for Hyperthermia in Patients After Subarachnoidal Hemorrhage Terminated NCT00796900 Phase 2, Phase 3 Dantrolene;Placebo
10 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
11 Inhaled Sevoflurane Compared to Intravenous Sedation Post Coronary Artery Bypass Grafting Completed NCT00484575 Phase 1, Phase 2 Sevoflurane;propofol
12 Phase 2, Multiple-Site, Open-Label, Randomized, 2-Group, Parallel Study to Assess the Efficacy and Safety of Ryanodex(R) (EGL-4101)as Adjuvant Treatment in Subjects With Psychostimulant Drug-Induced Toxicity (PDIT) Active, not recruiting NCT03189433 Phase 2 Ryanodex (dantrolene sodium) for injectable suspension
13 A Phase 1,Open, Dose-escalation Study to Assess the Efficacy and Safety of Fospropofol Disodium Injection in Healthy Volunteers Completed NCT01271569 Phase 1 Fospropofol disodium
14 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
15 The Effect of an Electronic Dynamic Cognitive Aid Versus a Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
16 Use of a Hand-held Digital Cognitive Aid in the Early Management of Simulated War Completed NCT03483727
17 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770
18 Evaluation of the Preparation of Runners and the Impact of an Ultra-trail Event in a Hot and Humid Environment (Ultra Trail Adaptation Environment) Completed NCT04136925
19 Use of a Wearable Digital Cognitive Aid in Simulated Anesthesia and Intensive Care Crises. Completed NCT02678819
20 Speed of General Versus Spinal Anesthesia for Emergency Cesarean Delivery: A Simulation Based Study Completed NCT00966680
21 The Effect of Maternal Warming During Cesarean Delivery on Neonatal Temperature Completed NCT00616174
22 A Randomized Controlled Trial To Assess Risk of Delirium in Older Adults Undergoing Hip Fracture Surgery With Spinal or General Anesthesia Completed NCT02190903
23 Comparison of Learning Outcomes Between the Roles of Learner (Actor-spectator and Spectator-only) During an Immersive Simulation Completed NCT02804425
24 Pre-warming With Thermal Gown Prevents Maternal Hypothermia in Elective Cesarean Section Completed NCT02091466
25 Rhabdomyolysis in Basic Training Completed NCT00601029
26 Donation of Blood for Genetic Testing With Clinical Data From the North American Malignant Hyperthermia Registry Recruiting NCT02964481
27 Population at Risk of Malignant Hyperthermia: Ambispective Cohort. Recruiting NCT04287556
28 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
29 TIVA Versus Volatile Anesthetics Admnistration on Stress and Pain Levels During Autologous Fat Transfer in Breast Reconstruction, in a Day Care Center Recruiting NCT04077827 Propofol
30 Application of Methodology of Non-invasive Stimulated Muscle Force Assessment to ICU Patients and Patients With Primary Myopathies to Characterize Their Muscle Weakness - Extension of the Study Protocol: 2008 to 2018 Recruiting NCT00735384
31 Evaluation of Ultrasound-Guided Erector Spinae Plane Block for Postoperative Analgesia in Adult Patients Undergoing Major Abdominal Surgery: A Prospective Randomized Controlled Clinical Trial Recruiting NCT04382209
32 Evaluation of Esophageal Damage During Conventional Pulmonary Vein Ablation Procedures and Potential Strategies to Protect the Esophagus. Pilot Study. Recruiting NCT03832959
33 Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration Active, not recruiting NCT03964870
34 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
35 Low-dose Rocuronium Provides Adequate Muscle Relaxation and Increases the Effectiveness of Intraoperative Neural Monitoring in Thyroid Surgery Enrolling by invitation NCT04230915
36 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
37 Pelvic Health and Physical Therapy to Improve Lives of Prostate Cancer Patients Not yet recruiting NCT04027270
38 Comparison of Electrophysiological Effects of Sevoflurane and Isoflurane-based Anesthesia in Children Undergoing RF Ablation or Cryoablation for SVT Treatment. A Randomized Double Blind Study. Terminated NCT01216501
39 Effectiveness of Carbon Filters to Reduce the Anesthetic Gas Concentration in an Anesthetized Patient Withdrawn NCT01624558
40 Quantitative Assessment of Train of Four Device for Patients Receiving Neuromuscular Blockade Withdrawn NCT02591108

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dantrolene
Dantrolene Sodium

Cochrane evidence based reviews: malignant hyperthermia

Sources

Genetic Tests for Malignant Hyperthermia

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Genetic tests related to Malignant Hyperthermia:

# Genetic test Affiliating Genes
1 Malignant Hyperthermia 29
Sources

Anatomical Context for Malignant Hyperthermia

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MalaCards organs/tissues related to Malignant Hyperthermia:

40
Skeletal Muscle, Testes, Heart, Kidney, Brain, Skin, Thyroid
Sources

Publications for Malignant Hyperthermia

About this section

Articles related to Malignant Hyperthermia:

(show top 50) (show all 3636)
# Title Authors PMID Year
1
Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 61 6
14870754 2004
2
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. 61 6
14732627 2004
3
Malignant Hyperthermia Susceptibility 61 6
20301325 2003
4
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. 6 61
12220451 2002
5
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 6 61
11741831 2001
6
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 61 6
11389482 2001
7
Malignant hyperthermia and apparent heat stroke. 61 6
11448278 2001
8
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. 61 6
11260227 2001
9
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 61 6
11063719 2000
10
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. 6 61
10888602 2000
11
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. 6 61
9831351 1998
12
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6 61
9497245 1998
13
Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 6 61
9543323 1998
14
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 6 61
9450902 1998
15
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. 6 61
9520251 1997
16
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. 61 6
9199552 1997
17
The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. 61 6
9106529 1997
18
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 6 61
9030597 1997
19
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 61 6
8661021 1996
20
RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 6 61
8828983 1996
21
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6 61
8592342 1995
22
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 61 6
7586638 1995
23
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. 61 6
7762556 1995
24
A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 61 6
7554356 1995
25
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 61 6
7889656 1994
26
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 61 6
7849712 1994
27
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 6 61
7829078 1994
28
The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. 6 61
7511586 1994
29
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 61 6
8012359 1994
30
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 61 6
8220423 1993
31
No C1840 to T mutation in RYR1 in malignant hyperthermia. 6 61
8401544 1993
32
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 6 61
1354642 1992
33
Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. 6 61
1639409 1992
34
DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. 61 6
1329581 1992
35
Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families. 61 6
1774073 1991
36
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 61 6
1774074 1991
37
Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. 6 61
1862346 1991
38
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
39
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
40
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
41
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
42
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 6
10097181 1999
43
Residual volatile anesthetics after workstation preparation and activated charcoal filtration. 61
32153012 2020
44
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia. 61
32535660 2020
45
Sex-specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia-susceptible mice. 61
32367593 2020
46
Drawing up dantrolene for the treatment of malignant hyperthermia: use of a drawing up spike to make the process easier and quicker. 61
32383516 2020
47
Deep brain stimulation as a possible treatment of hyperthermia in patients with serotonin syndrome. 61
32251940 2020
48
[Amyotrophic lateral sclerosis, myasthenia gravis, Duchenne muscular dystrophy or also a questionable disposition to malignant hyperthermia … : Systematics of anesthesiological management in neuromuscular diseases]. 61
32504160 2020
49
Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes. 61
32364497 2020
50
Trihexyphenidyl induced malignant hyperthermia in a patient with Parkinson's disease complicated with pneumonia: A case report. 61
32443324 2020
Sources

Variations for Malignant Hyperthermia

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ClinVar genetic disease variations for Malignant Hyperthermia:

6 (show top 50) (show all 241) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283
2 RYR1 NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)SNV Pathogenic/Likely pathogenic 133029 rs193922764 19:38942482-38942482 19:38451842-38451842
3 RYR1 NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)SNV drug response 12964 rs118192172 19:38948185-38948185 19:38457545-38457545
4 RYR1 NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)SNV drug response 12970 rs121918593 19:38990633-38990633 19:38499993-38499993
5 RYR1 NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)SNV drug response 12971 rs28933397 19:38991294-38991294 19:38500654-38500654
6 RYR1 NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)SNV Likely pathogenic 133098 rs146876145 19:39076780-39076780 19:38586140-38586140
7 RYR1 NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)SNV drug response 133202 rs193922816 19:38991282-38991282 19:38500642-38500642
8 RYR1 NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)SNV drug response 291315 rs193922768 19:38946111-38946111 19:38455471-38455471
9 RYR1 NM_000540.2(RYR1):c.10048C>A (p.Arg3350=)SNV Conflicting interpretations of pathogenicity 256386 rs200355885 19:39009883-39009883 19:38519243-38519243
10 CACNA1S NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)SNV Conflicting interpretations of pathogenicity 279727 rs150590855 1:201047133-201047133 1:201078005-201078005
11 RYR1 NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu)SNV Conflicting interpretations of pathogenicity 287319 rs867851900 19:39056343-39056343 19:38565703-38565703
12 CACNA1S NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)SNV Conflicting interpretations of pathogenicity 294708 rs146696748 1:201012449-201012449 1:201043321-201043321
13 CACNA1S NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)SNV Conflicting interpretations of pathogenicity 294710 rs200848930 1:201012575-201012575 1:201043447-201043447
14 CACNA1S NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)SNV Conflicting interpretations of pathogenicity 294715 rs764330337 1:201016365-201016365 1:201047237-201047237
15 CACNA1S NM_000069.3(CACNA1S):c.3796-14C>TSNV Conflicting interpretations of pathogenicity 294727 rs377210987 1:201022416-201022416 1:201053288-201053288
16 CACNA1S NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)SNV Conflicting interpretations of pathogenicity 294737 rs138328785 1:201031619-201031619 1:201062491-201062491
17 CACNA1S NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)SNV Conflicting interpretations of pathogenicity 294739 rs150708636 1:201035065-201035065 1:201065937-201065937
18 RYR1 NM_000540.2(RYR1):c.3381C>T (p.Arg1127=)SNV Conflicting interpretations of pathogenicity 256491 rs200780880 19:38958452-38958452 19:38467812-38467812
19 RYR1 NM_000540.2(RYR1):c.4294-4C>TSNV Conflicting interpretations of pathogenicity 256506 rs368108496 19:38968346-38968346 19:38477706-38477706
20 CACNA1S NM_000069.3(CACNA1S):c.3861+14G>TSNV Conflicting interpretations of pathogenicity 294726 rs200654730 1:201022323-201022323 1:201053195-201053195
21 CACNA1S NM_000069.3(CACNA1S):c.1948+13G>CSNV Conflicting interpretations of pathogenicity 294751 rs538625530 1:201044610-201044610 1:201075482-201075482
22 CACNA1S NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)SNV Conflicting interpretations of pathogenicity 294729 rs148870919 1:201023671-201023671 1:201054543-201054543
23 CACNA1S NM_000069.3(CACNA1S):c.1949-6G>ASNV Conflicting interpretations of pathogenicity 294749 rs373698107 1:201043754-201043754 1:201074626-201074626
24 CACNA1S NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)SNV Conflicting interpretations of pathogenicity 294767 rs35521793 1:201052331-201052331 1:201083203-201083203
25 CACNA1S NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)SNV Conflicting interpretations of pathogenicity 294771 rs760398733 1:201057049-201057049 1:201087921-201087921
26 CACNA1S NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)SNV Conflicting interpretations of pathogenicity 294760 rs763794604 1:201046197-201046197 1:201077069-201077069
27 CACNA1S NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)SNV Conflicting interpretations of pathogenicity 294718 rs200538716 1:201017714-201017714 1:201048586-201048586
28 CACNA1S NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)SNV Conflicting interpretations of pathogenicity 294725 rs780390034 1:201021734-201021734 1:201052606-201052606
29 CACNA1S NM_000069.3(CACNA1S):c.2361-11C>TSNV Conflicting interpretations of pathogenicity 294747 rs376279583 1:201038740-201038740 1:201069612-201069612
30 CACNA1S NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)SNV Conflicting interpretations of pathogenicity 294752 rs760246258 1:201044626-201044626 1:201075498-201075498
31 RYR1 NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser)SNV Conflicting interpretations of pathogenicity 159852 rs76537615 19:38974116-38974116 19:38483476-38483476
32 RYR1 NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)SNV Conflicting interpretations of pathogenicity 133175 rs147213895 19:38989881-38989881 19:38499241-38499241
33 CACNA1S NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)SNV Conflicting interpretations of pathogenicity 161208 rs145910245 1:201020165-201020165 1:201051037-201051037
34 RYR1 NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)SNV Conflicting interpretations of pathogenicity 161364 rs146504767 19:38976331-38976331 19:38485691-38485691
35 RYR1 NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)SNV Conflicting interpretations of pathogenicity 161365 rs200950673 19:39008026-39008026 19:38517386-38517386
36 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
37 CACNA1S NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)SNV Conflicting interpretations of pathogenicity 199686 rs141204958 1:201061111-201061111 1:201091983-201091983
38 RYR1 NM_000540.2(RYR1):c.9262G>A (p.Val3088Met)SNV Conflicting interpretations of pathogenicity 201158 rs145044872 19:39002913-39002913 19:38512273-38512273
39 RYR1 NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu)SNV Conflicting interpretations of pathogenicity 201154 rs368874586 19:39076790-39076790 19:38586150-38586150
40 RYR1 NM_000540.2(RYR1):c.12588C>T (p.Ile4196=)SNV Conflicting interpretations of pathogenicity 212092 rs61739895 19:39052058-39052058 19:38561418-38561418
41 CACNA1S NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)SNV Conflicting interpretations of pathogenicity 225282 rs116347156 1:201031133-201031133 1:201062005-201062005
42 CACNA1S NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)SNV Conflicting interpretations of pathogenicity 69079 rs150020550 1:201030461-201030461 1:201061333-201061333
43 RYR1 NM_000540.2(RYR1):c.1453A>G (p.Met485Val)SNV Conflicting interpretations of pathogenicity 133076 rs147723844 19:38945887-38945887 19:38455247-38455247
44 RYR1 NM_000540.2(RYR1):c.12879G>C (p.Ala4293=)SNV Conflicting interpretations of pathogenicity 93249 rs193922854 19:39055853-39055853 19:38565213-38565213
45 RYR1 NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)SNV Conflicting interpretations of pathogenicity 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
46 RYR1 NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg)SNV Conflicting interpretations of pathogenicity 93269 rs137933390 19:38965975-38965975 19:38475335-38475335
47 CACNA1S NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)SNV Conflicting interpretations of pathogenicity 294758 rs377459546 1:201046130-201046130 1:201077002-201077002
48 CACNA1S NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)SNV Conflicting interpretations of pathogenicity 294764 rs373712202 1:201047156-201047156 1:201078028-201078028
49 CACNA1S NM_000069.3(CACNA1S):c.*163G>ASNV Conflicting interpretations of pathogenicity 294700 rs200126670 1:201008796-201008796 1:201039668-201039668
50 CACNA1S NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)SNV Conflicting interpretations of pathogenicity 294768 rs146136274 1:201052382-201052382 1:201083254-201083254
Sources

Expression for Malignant Hyperthermia

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

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
CREB Pathway 63
Show member pathways
 13.19 RYR2 RYR1 QDPR CACNG1 CACNB1 CACNA2D1
2
Cardiac conduction 65
Show member pathways
 12.75 SCN4A RYR2 RYR1 DMD CACNG1 CACNB1
3
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.6 RYR2 RYR1 DMD CACNG1 CACNB1 CACNA2D1
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.43 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S
5
Oxytocin signaling pathway 36
Show member pathways
 12.42 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
6
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.41 RYR2 RYR1 CASQ1 CACNB1 CACNA1S
7
Calcium signaling pathway 36
Show member pathways
 12.19 RYR2 RYR1 CASQ1 CACNA1S ASPH
8
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.18 CACNG1 CACNB1 CACNA2D1 CACNA1S
9
Dilated cardiomyopathy (DCM) 36
Show member pathways
 12.14 RYR2 LAMA2 DMD CACNG1 CACNB1 CACNA2D1
10
Presenilin-Mediated Signaling 63
12.03 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
11
Fc-GammaR Pathway 63
Show member pathways
 11.93 CACNG1 CACNB1 CACNA2D1 CACNA1S
12
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 11.88 RYR2 LAMA2 DMD CACNG1 CACNB1 CACNA2D1
13
Phase 0 - rapid depolarisation 65
Show member pathways
 11.71 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
14
Cardiac muscle contraction 36
11.67 RYR2 CACNG1 CACNB1 CACNA2D1 CACNA1S ASPH
15
G-protein signaling_RhoA regulation pathway 22
11.58 CACNG1 CACNB1 CACNA2D1 CACNA1S
16
Celecoxib Pathway, Pharmacodynamics 60
11.49 CACNB1 CACNA2D1 CACNA1S
17
Netrin Signaling 63
11.12 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.87 LAMA2 DMD
19
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.69 RYR2 RYR1
20
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.1 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
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GO Terms for Malignant Hyperthermia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.76 RYR2 RYR1 DMD CASQ1
2 sarcoplasmic reticulum GO:0016529 9.65 RYR2 RYR1 CASQ1 CACNA2D1 ASPH
3 sarcoplasmic reticulum membrane GO:0033017 9.62 RYR2 RYR1 CASQ1 ASPH
4 smooth endoplasmic reticulum GO:0005790 9.61 RYR2 RYR1 CASQ1
5 I band GO:0031674 9.58 RYR1 CASQ1 CACNA1S
6 voltage-gated calcium channel complex GO:0005891 9.55 STAC3 CACNG1 CACNB1 CACNA2D1 CACNA1S
7 L-type voltage-gated calcium channel complex GO:1990454 9.54 CACNG1 CACNA2D1 CACNA1S
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.49 RYR2 RYR1
9 terminal cisterna GO:0014802 9.48 RYR1 CASQ1
10 T-tubule GO:0030315 9.43 STAC3 RYR1 CASQ1 CACNG1 CACNA2D1 CACNA1S
11 sarcolemma GO:0042383 9.23 STAC3 RYR2 RYR1 LAMA2 DMD CASQ1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.98 SCN4A RYR2 RYR1 CACNG1 CACNB1 CACNA2D1
2 ion transmembrane transport GO:0034220 9.87 RYR2 RYR1 CASQ1 ASPH
3 regulation of ion transmembrane transport GO:0034765 9.8 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
4 muscle contraction GO:0006936 9.76 SCN4A RYR1 CACNA1S ASPH
5 regulation of cardiac conduction GO:1903779 9.67 RYR2 RYR1 CASQ1 ASPH
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 DMD CASQ1
7 response to muscle stretch GO:0035994 9.58 RYR2 DMD
8 calcium ion transport into cytosol GO:0060402 9.56 RYR2 CACNA2D1
9 cardiac conduction GO:0061337 9.56 CACNG1 CACNB1 CACNA2D1 CACNA1S
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.55 DMD CASQ1
11 response to caffeine GO:0031000 9.54 RYR2 RYR1
12 regulation of voltage-gated calcium channel activity GO:1901385 9.52 DMD CACNB1
13 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.51 RYR2 RYR1
14 cellular response to caffeine GO:0071313 9.5 RYR2 RYR1 CACNA1S
15 sarcoplasmic reticulum calcium ion transport GO:0070296 9.49 RYR2 CACNG1
16 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.48 DMD CASQ1
17 calcium ion transport GO:0006816 9.43 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
18 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.33 CACNG1 CACNB1 CACNA2D1
19 calcium ion transmembrane transport GO:0070588 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S

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 9.67 SCN4A RYR2 RYR1 CACNA1S
2 voltage-gated ion channel activity GO:0005244 9.55 SCN4A CACNG1 CACNB1 CACNA2D1 CACNA1S
3 calcium-release channel activity GO:0015278 9.43 RYR2 RYR1
4 high voltage-gated calcium channel activity GO:0008331 9.4 CACNB1 CACNA1S
5 voltage-gated calcium channel activity GO:0005245 9.35 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
6 calcium-induced calcium release activity GO:0048763 9.32 RYR2 RYR1
7 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR2 RYR1
8 calcium channel activity GO:0005262 9.1 RYR2 RYR1 CACNG1 CACNB1 CACNA2D1 CACNA1S
Sources

Sources for Malignant Hyperthermia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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