MCID: MLG056
MIFTS: 57

Malignant Hyperthermia

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Malignant Hyperthermia

MalaCards integrated aliases for Malignant Hyperthermia:

Name: Malignant Hyperthermia 12 50 25 29 42 14
Anesthesia Related Hyperthermia 12 50 25
Malignant Hyperpyrexia Due to Anesthesia 12 69
Malignant Hyperpyrexia 50 25
Mhs - Malignant Hyperthermia 25
Fulminating Hyperpyrexia 50
Hyperpyrexia, Malignant 25
Hyperthermia, Malignant 25
Hyperpyrexia Malignant 50
Pharmacogenic Myopathy 50
Malignant Fever 69
Mh 50

Classifications:



External Ids:

Disease Ontology 12 DOID:8545
ICD10 33 T88.3
ICD9CM 35 995.86
MeSH 42 D008305
NCIt 47 C84869
UMLS 69 C0024591

Summaries for Malignant Hyperthermia

NIH Rare Diseases : 50 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 susceptibility 1 and malignant hyperthermia susceptibility 5, and has symptoms including fever, muscle rigidity and pain, postoperative. An important gene associated with Malignant Hyperthermia is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

Genetics Home Reference : 25 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.

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.

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

Related Diseases for Malignant Hyperthermia

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

(show top 50) (show all 125)
id Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 1 12.3
2 malignant hyperthermia susceptibility 5 12.2
3 malignant hyperthermia susceptibility type 2 12.2
4 malignant hyperthermia susceptibility type 3 12.2
5 malignant hyperthermia susceptibility type 4 12.2
6 malignant hyperthermia susceptibility type 6 12.2
7 malignant hyperthermia susceptibility 12.1
8 malignant hyperthermia arthrogryposis torticollis 12.1
9 exercise-induced malignant hyperthermia 12.1
10 malignant hyperthermia of anesthesia 12.0
11 native american myopathy 12.0
12 contractures, congenital, torticollis, and malignant hyperthermia 11.9
13 cacna1s-related malignant hyperthermia susceptibility 11.8
14 mhs2-related malignant hyperthermia susceptibility 11.8
15 mhs3-related malignant hyperthermia susceptibility 11.8
16 mhs4-related malignant hyperthermia susceptibility 11.8
17 mhs6-related malignant hyperthermia susceptibility 11.8
18 ryr1-related malignant hyperthermia susceptibility 11.8
19 central core disease 11.5
20 myoglobinuria, acute recurrent, autosomal recessive 10.9
21 undifferentiated embryonal sarcoma of the liver 10.7 CACNA1S RYR1
22 arrhythmogenic right ventricular dysplasia 2 10.5 RYR1 RYR2
23 postinfectious encephalomyelitis 10.5 CACNA1S SCN4A
24 sessile serrated polyposis cancer syndrome 10.4 QDPR SCN4A
25 paramyotonia congenita 10.4 CACNA1S SCN4A
26 amelogenesis imperfecta, hypomaturation type, iia6 10.4 CACNA1S SCN4A
27 central nervous system angiosarcoma 10.3 RYR1 SCN4A
28 usher syndrome 10.2 CACNA1S RYR1 RYR2
29 visual snow syndrome 10.2 MB PIK3C2A
30 stormorken syndrome 10.2 CASQ1 QDPR RYR1
31 endometrial type cervical adenomyoma 10.2 MB PIK3C2A
32 myopathy 10.2
33 myopathy, distal, tateyama type 10.2 MB PIK3C2A
34 inferior myocardial infarction 10.2 MB PIK3C2A
35 pigment dispersion syndrome 10.2 CASQ1 RYR1 RYR2
36 hereditary choroidal atrophy 10.1 MB PIK3C2A
37 glomerulonephritis 10.1 MB PIK3C2A
38 narcolepsy 10.1 CACNA1S SCN4A
39 adenocarcinoma 10.1 MB PIK3C2A
40 melanoma, cutaneous malignant, 3 10.1 CACNA1S QDPR RYR1 STAC3
41 brachial plexus neuropathy 10.1 MB PIK3C2A
42 rete ovarii adenoma 10.0 MB PIK3C2A
43 velocardiofacial syndrome 10.0 MB PIK3C2A RYR1
44 minicore myopathy with external ophthalmoplegia 10.0 CACNA1S QDPR RYR1 RYR2
45 chorea gravidarum 10.0 MB PIK3C2A RYR1
46 plantar fasciitis 10.0 MB PIK3C2A
47 myelodysplastic myeloproliferative cancer 10.0 PIK3C2A RYR1 RYR2
48 neuroleptic malignant syndrome 10.0
49 eosinophilic variant of chromophobe renal cell carcinoma 10.0 MB PIK3C2A RYR1
50 ventricular tachycardia, catecholaminergic polymorphic, 1 10.0 PIK3C2A RYR1 RYR2

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:


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

MGI Mouse Phenotypes related to Malignant Hyperthermia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.96 CACNA1S CASQ1 CPT2 MB PIK3C2A QDPR
2 growth/size/body region MP:0005378 9.92 CACNA1S CASQ1 MB PIK3C2A RYR1 RYR2
3 cardiovascular system MP:0005385 9.85 CACNA2D1 MB PIK3C2A RYR1 RYR2 STAC3
4 mortality/aging MP:0010768 9.81 STAC3 CACNA1S CPT2 MB PIK3C2A QDPR
5 muscle MP:0005369 9.61 CACNA1S CACNA2D1 CACNG1 CASQ1 MB RYR1
6 respiratory system MP:0005388 8.92 MB RYR1 SCN4A STAC3

Drugs & Therapeutics for Malignant Hyperthermia

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

(show top 50) (show all 120)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4,Phase 3 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3 22916-47-8 4189
3
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
4 Analgesics Phase 4
5 Neurotransmitter Agents Phase 4
6 Peripheral Nervous System Agents Phase 4,Phase 2
7 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anesthetics Phase 4,Phase 2
10 Antifungal Agents Phase 4,Phase 3
11 Liposomal amphotericin B Phase 4,Phase 3
12 Antiprotozoal Agents Phase 4,Phase 3
13 Antiparasitic Agents Phase 4,Phase 3
14 Central Nervous System Depressants Phase 4,Phase 2
15 Adrenergic Agents Phase 4
16 Adrenergic Agonists Phase 4
17 Adrenergic alpha-2 Receptor Agonists Phase 4
18 Adrenergic alpha-Agonists Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Hypnotics and Sedatives Phase 4
21 Steroid Synthesis Inhibitors Phase 4
22 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
23 Cytochrome P-450 CYP3A Inhibitors Phase 4
24 Cytochrome P-450 Enzyme Inhibitors Phase 4
25 Hormone Antagonists Phase 4
26 Hormones Phase 4
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
28
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
29
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
30
Menthol Approved Phase 3,Phase 1,Phase 2 2216-51-5 16666
31
Ifosfamide Approved Phase 3 3778-73-2 3690
32
Mechlorethamine Approved Phase 3 51-75-2 4033
33
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
34
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
35
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
36
BCG vaccine Investigational Phase 3
37 Alkylating Agents Phase 3,Phase 2
38 Mitomycins Phase 3,Phase 2,Phase 1
39 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
40 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1
41 Etoposide phosphate Phase 3,Phase 2
42 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
43 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
44 Isophosphamide mustard Phase 3
45 Echinocandins Phase 3
46 Adjuvants, Immunologic Phase 3
47 Vaccines Phase 3
48
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
49
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
50
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904

Interventional clinical trials:

(show top 50) (show all 53)

id Name Status NCT ID Phase Drugs
1 Effect of Intraoperative Dexmedetomidine on Development of Acute Kidney Injury Recruiting NCT02641938 Phase 4 Dexmedetomidine;Normal Saline
2 Comparison of 2 Antifungal Treatment (Empirical Versus Pre-Empirical) Strategies in Prolonged Neutropenia Terminated NCT00190463 Phase 4 Amphotericin B
3 Clinical Trial Using Bipolar Technology for Transurethral Resection of Bladder Tumor Unknown status NCT01581723 Phase 3
4 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
5 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
6 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
7 Trial Evaluating Surgery With Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Treating Patients With a High Risk of Developing Colorectal Peritoneal Carcinomatosis Recruiting NCT02179489 Phase 3
8 Optimal Application Dose of Superficial Hyperthermia Active, not recruiting NCT00766233 Phase 3
9 Hemicraniectomy for Malignant Middle Cerebral Artery Infarction (HeMMI): A Single Center Randomized Controlled Clinical Trial Terminated NCT02002234 Phase 3
10 Hyperthermia Treatment in Conjunction With Mitomycin C Versus Bacillus Calmette-Guérin Immunotherapy (BCG) for Superficial Bladder Cancer Terminated NCT00384891 Phase 3 Bacillus Calmette-Guérin
11 Clinical Study in Treatment of Malignant Ascites of Ovarian Cancer With Intraperitoneal Injection Bevacizumab Combined With Intraperitoneal Hyperthermic Perfusion Chemotherapy Unknown status NCT01838538 Phase 2 Bevacizumab;TC:paclitaxel + carboplatin
12 Four Versus Six Cycles of Pemetrexed/Platinum for MPM Unknown status NCT02497053 Phase 2 pemetrexed/platinum chemotherapy;Pemetrexed/platinum chemotherapy
13 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2 Carboplatin;VP-16
14 Surgery, Chemotherapy, and Radiation Therapy in Treating Patients With Peritoneal Cancer Unknown status NCT00024271 Phase 2 cisplatin;doxorubicin hydrochloride;gemcitabine hydrochloride;mitomycin C
15 Local mEHT + TCM Versus Intraperitoneal Chemoinfusion in Treatment of Malignant Ascites: Phase II RCT Completed NCT02638051 Phase 2 IPCI (CDDP+5FU)
16 Melphalan and Whole-Body Hyperthermia in Treating Patients With Advanced Melanoma Completed NCT00002973 Phase 2 melphalan
17 Pilot Study for Palliation of Pain in Bone Metastases by MR-HIFU Completed NCT01117246 Phase 1, Phase 2
18 Treatment of Peritoneal Cancer With Surgery, Perfused Heated Cisplatin and Chemotherapy Completed NCT00004547 Phase 2 Postoperative dwell with paclitaxel and 5-FU
19 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
20 Radical Gastrectomy and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Locally Advanced Gastric Cancer Not yet recruiting NCT02528110 Phase 2
21 Radical Colorectal Resection and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Locally Advanced Colorectal Cancer Not yet recruiting NCT02830139 Phase 2 Oxaliplatin , Capecitabine;Normal saline , Cisplatin , 5-Fu
22 Sevoflurane Sedation on Intra Cranial Pressure in Traumatic Brain Injury Patients Terminated NCT01374633 Phase 2 1: Sevoflurane
23 Mitomycin as a Hyperthermic Peritoneal Perfusion in Treating Patients With Malignant Ascites Terminated NCT00265863 Phase 2 mitomycin C
24 Panitumumab and Irinotecan for Malignant Gliomas Terminated NCT01017653 Phase 2 Irinotecan;Panitumumab
25 HIPEC as Neoadjuvant Treatment for Resectable Pancreatic Adenocarcinoma Withdrawn NCT02850874 Phase 2 Gemcitabine
26 Extrapleural Pneumonectomy /Pleurectomy Decortication, IHOC Cisplatin and Gemcitabine With Amifostine and Sodium Thiosulfate Cytoprotection for Resectable Malignant Pleural Mesothelioma Completed NCT00571298 Phase 1 Cisplatin;gemcitabine;amifostine;sodium thiosulfate
27 Pleurectomy/Decortication Followed by Intrathoracic/Intraperitoneal Heated Cisplatin for Malignant Pleural Mesothelioma Completed NCT00165555 Phase 1 Cisplatin;Sodium Thiosulfate
28 Effect of Oncothermia on Improvement of Quality of Life in Unresectable Pancreatic Cancer Patients Completed NCT02150135 Phase 1
29 Study of Cytoreductive Surgery and Hyperthermic Intraoperative Chemotherapy With Pemetrexed and Cisplatin for Malignant Pleural Mesotheliomas Recruiting NCT02838745 Phase 1 Pemetrexed;Cisplatin
30 Adjuvant Hyperthermic Intraperitoneal Chemotherapy for Locally Advanced Gastric Cancer Recruiting NCT02672865 Phase 1 Hyperthermic Intraperitoneal Chemotherapy (HIPEC)
31 Study of Doxorubicin and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) and Intraoperative Brachytherapy for Unresectable or Refractory Pelvic and Abdominal Rhabdomyosarcoma and Undifferentiated Sarcomas in Children Not yet recruiting NCT03111069 Phase 1 Doxorubicin
32 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
33 Efficacy of Chemotherapy Combined With Regional Hypothermia in Advanced Malignant Melanoma Patients With Progressive Soft Tissue Metastases Unknown status NCT00264056
34 Registry of Febrile Neutropenia and Invasive Fungal Infections Unknown status NCT01684189
35 Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest. Completed NCT03253770
36 Effect of an Electronic Cognitive Aid Versus Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
37 Video-assisted Hyperthermic Pleural Chemoperfusion vs Talc Pleurodesis for Refractory Malignant Pleural Effusions. Completed NCT01409551
38 A Prospective Registry for Febrile Events in Patients With Malignant Hemopathies or Subjected to Haematopoietic Stem Cell Transplant Completed NCT01069887
39 Nivestim® (Filgrastim) Tolerance in Patients Treated by Toxic Chemotherapeutic Agents Completed NCT01574235
40 Nivestim™ in Treatment of Malignant Diseases Completed NCT01627990
41 Impact of the PET in the Diagnosis Strategy of FUO or Inflammatory Syndrome in Immunocompetent Patients FUO-TEP Completed NCT01200771
42 Quality Of Life in Patients With Malignant Biliary Obstruction Completed NCT00579865
43 A Trial Comparing the Uncovered to the Covered Wallstent in the Palliation of Malignant Bile Duct Strictures Completed NCT01047332
44 Effect of Aminobiphosphonates and Statins on Circulating Vgamma9Vdelta2-T Cells Completed NCT01179464 Aminobiphosphonate;Simvastatin
45 A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia Recruiting NCT02561598
46 Malignant Hyperthermia Registry and Genetic Testing Recruiting NCT02964481
47 Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies Recruiting NCT00735384
48 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
49 Immunostimulating Interstitial Laser Thermotherapy in Malignant Melanoma Recruiting NCT02650492
50 Exercise Capacity and Physical Activity Levels in Newly Diagnosed Hematologic Malignant Patients Recruiting NCT03212560

Search NIH Clinical Center for Malignant Hyperthermia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: malignant hyperthermia

Genetic Tests for Malignant Hyperthermia

Genetic tests related to Malignant Hyperthermia:

id Genetic test Affiliating Genes
1 Malignant Hyperthermia 29

Anatomical Context for Malignant Hyperthermia

MalaCards organs/tissues related to Malignant Hyperthermia:

39
Skeletal Muscle, Heart, Testes, Brain, Kidney, Bone, Liver

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 804)
id Title Authors Year
1
Undiagnosed Pheochromocytoma Simulating Malignant Hyperthermia. ( 28665830 )
2017
2
Dantrolene requires Mg(2+) to arrest malignant hyperthermia. ( 28373535 )
2017
3
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
4
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. ( 28952030 )
2017
5
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. ( 28259615 )
2017
6
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
7
The use of a checklist improves anaesthesiologists' technical and non-technical performance for simulated malignant hyperthermia management. ( 28939466 )
2017
8
JSA guideline for the management of malignant hyperthermia crisis 2016. ( 28246924 )
2017
9
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
10
Administration of anaesthetic triggering agents to patients tested malignant hyperthermia normal and their relatives in New Zealand: an update. ( 28911291 )
2017
11
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
12
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings. ( 28430550 )
2017
13
Postoperative Malignant Hyperthermia- A Medical Emergency: A Case Report and Review of Literature. ( 28571205 )
2017
14
Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. ( 28465322 )
2017
15
Malignant Hyperthermia Susceptibility and Related Diseases. ( 28902673 )
2017
16
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
17
Skeletal Muscle Metabolic Dysfunction in Patients With Malignant Hyperthermia Susceptibility. ( 28682948 )
2017
18
Delayed Development of Malignant Hyperthermia Following Cardiopulmonary Bypass. ( 28922985 )
2017
19
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept. ( 28902675 )
2017
20
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. ( 28403410 )
2017
21
Malignant Hyperthermia ( 28613578 )
2017
22
Confusing Terminology-Neuroleptic Malignant Syndrome vs Malignant Hyperthermia. ( 28558090 )
2017
23
A case report of suspected malignant hyperthermia where patient survived the episode. ( 28442967 )
2017
24
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
25
Prevalence of malignant hyperthermia diagnosis in hospital discharge records in California, Florida, New York, and Wisconsin. ( 28494877 )
2017
26
Suspected Malignant Hyperthermia in the Setting of Hypothermic Circulatory Arrest for Type A Aortic Dissection Repair: A Case Report. ( 28079659 )
2017
27
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
28
Simulation-Based Training: Malignant Hyperthermia. ( 28755668 )
2017
29
Mind the magnesium, in dantrolene suppression of malignant hyperthermia. ( 28442565 )
2017
30
Malignant Hyperthermia in a Morbidly Obese Patient Depletes Community Dantrolene Resources: A Case Report. ( 28697029 )
2017
31
Anesthesia-induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important? ( 28306187 )
2017
32
Confusing Terminology-Neuroleptic Malignant Syndrome vs Malignant Hyperthermia-Reply. ( 28558105 )
2017
33
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
34
Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy. ( 28303866 )
2017
35
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
36
A Primer for Diagnosing and Managing Malignant Hyperthermia Susceptibility. ( 28926348 )
2017
37
Clinical treatment of malignant hyperthermia in three cases. ( 27882090 )
2016
38
Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test. ( 26994242 )
2016
39
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. ( 26951757 )
2016
40
Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia. ( 27832566 )
2016
41
Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery. ( 28078069 )
2016
42
Rare postoperative delayed malignant hyperthermia after off-pump coronary bypass surgery and brief review of literature. ( 27052086 )
2016
43
Suspected Malignant Hyperthermia During Biventricular Assist Device Implantation in a Patient With Left Ventricular Noncompaction Cardiomyopathy. ( 27842951 )
2016
44
Review of crisis resource management (CRM) principles in the setting of intraoperative malignant hyperthermia. ( 26679497 )
2016
45
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. ( 27147545 )
2016
46
Malignant Hyperthermia-Associated Mutations in S2-S3 Cytoplasmic Loop of Type 1 Ryanodine Receptor Calcium Channel Impair Calcium-Dependent Inactivation. ( 27558158 )
2016
47
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
48
Pharmacogenetics and Pathophysiology of CACNA1S Mutations in Malignant Hyperthermia. ( 28011884 )
2016
49
Functional analysis of RYR1 variants linked to malignant hyperthermia. ( 27857962 )
2016
50
Malignant Hyperthermia, Exertional Heat Illness, and RYR1 Variants: The Muscle May Not Be the Brain. ( 26785433 )
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 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2 SCN4A
2
Show member pathways
13.02 CACNA1S CACNA2D1 CACNG1 QDPR RYR1 RYR2
3
Show member pathways
12.62 CACNA1S CACNA2D1 CACNG1 SCN4A
4
Show member pathways
12.59 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
5
Show member pathways
12.57 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2 SCN4A
6
Show member pathways
12.27 CACNA1S CASQ1 RYR1 RYR2
7
Show member pathways
12.11 CACNA1S CACNA2D1 CACNG1 RYR2
8
Show member pathways
12.05 CACNA1S CACNA2D1 CACNG1
9
Show member pathways
11.97 CACNA1S RYR1 RYR2
10
Show member pathways
11.8 CACNA1S CACNA2D1 CACNG1
11 11.71 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
12 11.51 CACNA1S CACNA2D1 CACNG1 RYR2
13
Show member pathways
11.43 CACNA1S CACNA2D1 CACNG1 SCN4A
14 10.71 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
15 10.61 RYR1 RYR2
16 10.34 CACNA1S CACNA2D1 CACNG1 RYR1

GO Terms for Malignant Hyperthermia

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

id Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 9.54 CASQ1 RYR1 RYR2
2 voltage-gated calcium channel complex GO:0005891 9.5 CACNA1S CACNA2D1 CACNG1
3 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 RYR2
4 L-type voltage-gated calcium channel complex GO:1990454 9.43 CACNA1S CACNA2D1
5 smooth endoplasmic reticulum GO:0005790 9.43 CASQ1 RYR1 RYR2
6 terminal cisterna GO:0014802 9.4 CASQ1 RYR1
7 I band GO:0031674 9.33 CACNA1S CASQ1 RYR1
8 sarcoplasmic reticulum GO:0016529 9.26 CACNA2D1 CASQ1 RYR1 RYR2
9 T-tubule GO:0030315 8.92 CACNA1S CACNA2D1 CASQ1 RYR1

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.97 CACNA1S CACNA2D1 CACNG1 CPT2 MB RYR1
2 transmembrane transport GO:0055085 9.88 CACNA1S RYR1 RYR2 SCN4A
3 ion transmembrane transport GO:0034220 9.81 CASQ1 RYR1 RYR2 SCN4A
4 ion transport GO:0006811 9.8 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2 SCN4A
5 response to hypoxia GO:0001666 9.72 MB RYR1 RYR2
6 regulation of ion transmembrane transport GO:0034765 9.71 CACNA1S CACNA2D1 CACNG1 SCN4A
7 regulation of cardiac conduction GO:1903779 9.65 CASQ1 RYR1 RYR2
8 cardiac conduction GO:0061337 9.61 CACNA1S CACNA2D1 CACNG1
9 release of sequestered calcium ion into cytosol GO:0051209 9.59 RYR1 RYR2
10 regulation of cytosolic calcium ion concentration GO:0051480 9.58 RYR1 RYR2
11 skeletal muscle fiber development GO:0048741 9.57 RYR1 STAC3
12 membrane depolarization during action potential GO:0086010 9.56 CACNA1S SCN4A
13 muscle contraction GO:0006936 9.56 CACNA1S CACNG1 RYR1 SCN4A
14 calcium ion transport into cytosol GO:0060402 9.54 CACNA2D1 RYR2
15 response to caffeine GO:0031000 9.52 RYR1 RYR2
16 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.49 RYR1 RYR2
17 sarcoplasmic reticulum calcium ion transport GO:0070296 9.46 CACNG1 RYR2
18 calcium ion transport GO:0006816 9.35 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
19 cellular response to caffeine GO:0071313 9.33 CACNA1S RYR1 RYR2
20 calcium ion transmembrane transport GO:0070588 9.02 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.54 RYR1 RYR2 SCN4A
2 calmodulin binding GO:0005516 9.4 RYR1 RYR2
3 calcium-release channel activity GO:0015278 9.32 RYR1 RYR2
4 calcium-induced calcium release activity GO:0048763 9.26 RYR1 RYR2
5 voltage-gated calcium channel activity GO:0005245 9.26 CACNA1S CACNA2D1 CACNG1 RYR1
6 ryanodine-sensitive calcium-release channel activity GO:0005219 9.16 RYR1 RYR2
7 calcium channel activity GO:0005262 9.02 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2

Sources for Malignant Hyperthermia

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
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
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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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