MH
MCID: MLG056
MIFTS: 58

Malignant Hyperthermia (MH) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Malignant Hyperthermia

Aliases & Descriptions for Malignant Hyperthermia:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:8545
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 5 and myopathy, 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, testes and heart, and related phenotypes are growth/size/body region 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 : 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.

Wikipedia : 71 Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is... 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 110)
id Related Disease Score Top Affiliating Genes
1 malignant hyperthermia susceptibility 5 33.4 CACNA1S QDPR RYR1 SCN4A
2 myopathy 30.5 RYR1 RYR2
3 multiminicore disease 29.2 CACNA1S CACNG1 CASQ1 RYR1 SCN4A
4 malignant hyperthermia susceptibility 1 12.3
5 malignant hyperthermia susceptibility 12.1
6 exercise-induced malignant hyperthermia 12.1
7 malignant hyperthermia of anesthesia 12.0
8 native american myopathy 12.0
9 malignant hyperthermia susceptibility type 2 12.0
10 malignant hyperthermia susceptibility type 3 12.0
11 malignant hyperthermia susceptibility type 4 12.0
12 malignant hyperthermia susceptibility type 6 12.0
13 contractures, congenital, torticollis, and malignant hyperthermia 11.9
14 malignant hyperthermia arthrogryposis torticollis 11.9
15 cacna1s-related malignant hyperthermia susceptibility 11.8
16 mhs2-related malignant hyperthermia susceptibility 11.8
17 mhs3-related malignant hyperthermia susceptibility 11.8
18 mhs4-related malignant hyperthermia susceptibility 11.8
19 mhs6-related malignant hyperthermia susceptibility 11.8
20 ryr1-related malignant hyperthermia susceptibility 11.8
21 central core disease 11.4
22 myoglobinuria, acute recurrent, autosomal recessive 10.9
23 primary pulmonary lymphoma 10.3 CACNA1S RYR1
24 repetitive motion disorders 10.2 CACNA1S SCN4A
25 oligodontia-colorectal cancer syndrome 10.2 QDPR SCN4A
26 premature ovarian failure 5 10.2 RYR1 SCN4A
27 myotonia congenita, atypical, acetazolamide-responsive 10.2 CACNA1S SCN4A
28 short stature, developmental delay, and congenital heart defects 10.2 MB RYR1
29 leukodystrophy, hypomyelinating, 2 10.2 RYR1 RYR2
30 b cell deficiency 10.2 RYR1 SCN4A
31 glaucoma 1, open angle, p 10.2 CACNA1S QDPR RYR1
32 hypothyroidism, congenital, nongoitrous, 1 10.2 CACNA1S SCN4A
33 pediatric angiosarcoma 10.1 RYR1 SCN4A
34 paresthesia 10.1 DMD SCN4A
35 prosthetic joint infection 10.1 DMD MB
36 myxozoa 10.1 CPT2 DMD
37 microcephaly and chorioretinopathy 1 10.1 DMD RYR1 SCN4A
38 phototoxic dermatitis 10.0 DMD RYR1 SCN4A
39 raynaud disease 10.0 CACNA1S QDPR RYR1 SCN4A
40 myelofibrosis 10.0 RYR1 RYR2
41 cerebral angioma 10.0 DMD MB RYR1
42 glomerulonephritis 10.0 DMD MB
43 epilepsy, generalized, with febrile seizures plus, type 1 10.0 CACNA1S QDPR RYR1 RYR2
44 b-cell childhood acute lymphoblastic leukemia 10.0 CPT2 MB
45 familial partial lipodystrophy 10.0 DMD RYR1 RYR2
46 chorea gravidarum 10.0 MB RYR1
47 muscular dystrophy 10.0
48 neuroleptic malignant syndrome 9.9
49 myotonia 9.9
50 cardiac arrest 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:


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 growth/size/body region MP:0005378 9.86 ASPH CACNA1S CASQ1 DMD MB RYR1
2 homeostasis/metabolism MP:0005376 9.85 CACNA1S CASQ1 CPT2 DMD MB QDPR
3 mortality/aging MP:0010768 9.61 ASPH CACNA1S CPT2 DMD MB QDPR
4 muscle MP:0005369 9.32 ASPH CACNA1S CACNA2D1 CACNG1 CASQ1 DMD

Drugs & Therapeutics for Malignant Hyperthermia

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

(show top 50) (show all 148)
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,Phase 2
6 Peripheral Nervous System Agents Phase 4
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 Antiparasitic Agents Phase 4,Phase 3
13 Antiprotozoal Agents Phase 4,Phase 3
14 Adrenergic Agents Phase 4,Phase 2
15 Adrenergic Agonists Phase 4
16 Adrenergic alpha-2 Receptor Agonists Phase 4
17 Adrenergic alpha-Agonists Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Hypnotics and Sedatives Phase 4
20 Central Nervous System Depressants Phase 4,Phase 2
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
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
31
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
32
Menthol Approved Phase 3,Phase 1,Phase 2 2216-51-5 16666
33
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
34
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
35
Levoleucovorin Approved Phase 2, Phase 3 68538-85-2
36
Ifosfamide Approved Phase 3 3778-73-2 3690
37
Mechlorethamine Approved Phase 3 51-75-2 4033
38
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
39
Trastuzumab Approved, Investigational Phase 3,Phase 2 180288-69-1 9903
40
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
41
Epirubicin Approved Phase 3 56420-45-2 41867
42
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
43
leucovorin Approved, Nutraceutical Phase 2, Phase 3, Phase 1 58-05-9 54575, 6560146 143
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
45
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
46 pancreatic polypeptide Phase 2, Phase 3
47 Alkylating Agents Phase 3,Phase 2,Phase 1
48 Mitomycins Phase 3,Phase 2
49 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
50 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 74)
id Name Status NCT ID Phase
1 Effect of Intraoperative Dexmedetomidine on Development of Acute Kidney Injury Recruiting NCT02641938 Phase 4
2 Comparison of 2 Antifungal Treatment (Empirical Versus Pre-Empirical) Strategies in Prolonged Neutropenia Terminated NCT00190463 Phase 4
3 Clinical Trial Using Bipolar Technology for Transurethral Resection of Bladder Tumor Unknown status NCT01581723 Phase 3
4 Combination Chemotherapy and Bevacizumab in Treating Patients With Advanced Neuroendocrine Tumors Unknown status NCT00227617 Phase 2, Phase 3
5 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
6 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
7 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3
8 Efficacy and Safety of Primovist in Chinese Patients Completed NCT00526188 Phase 3
9 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3
10 Trial Evaluating Surgery With Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Treating Patients With a High Risk of Developing Colorectal Peritoneal Carcinomatosis Recruiting NCT02179489 Phase 3
11 Cytoreductive Surgery (CRS) With/Without HIPEC in Gastric Cancer With Peritoneal Carcinomatosis Recruiting NCT02158988 Phase 3
12 Optimal Application Dose of Superficial Hyperthermia Active, not recruiting NCT00766233 Phase 3
13 Hemicraniectomy for Malignant Middle Cerebral Artery Infarction (HeMMI): A Single Center Randomized Controlled Clinical Trial Terminated NCT02002234 Phase 3
14 Hyperthermia Treatment in Conjunction With Mitomycin C Versus Bacillus Calmette-Guérin Immunotherapy (BCG) for Superficial Bladder Cancer Terminated NCT00384891 Phase 3
15 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
16 Chemotherapy Treatment for Children With Intraocular Germ-Line Retinoblastoma Unknown status NCT00179920 Phase 2
17 Surgery, Chemotherapy, and Radiation Therapy in Treating Patients With Peritoneal Cancer Unknown status NCT00024271 Phase 2
18 Local mEHT + TCM Versus Intraperitoneal Chemoinfusion in Treatment of Malignant Ascites: Phase II RCT Completed NCT02638051 Phase 2
19 Melphalan and Whole-Body Hyperthermia in Treating Patients With Advanced Melanoma Completed NCT00002973 Phase 2
20 Pilot Study for Palliation of Pain in Bone Metastases by MR-HIFU Completed NCT01117246 Phase 1, Phase 2
21 Treatment of Peritoneal Cancer With Surgery, Perfused Heated Cisplatin and Chemotherapy Completed NCT00004547 Phase 2
22 Stem Cell Transplantation and T-Cell Add-Back to Treat Bone Marrow Malignances Completed NCT00353860 Phase 2
23 A Study of Radiation Therapy and Paclitaxel and Carboplatin in Patients With Uterine Papillary Serous Carcinoma Completed NCT00231868 Phase 2
24 A Pilot Study of Alemtuzumab (Campath[R]) in Patients With Myelodysplastic Syndrome Completed NCT00217594 Phase 2
25 Four Versus Six Cycles of Pemetrexed/Platinum for MPM Recruiting NCT02497053 Phase 2
26 HIPEC as Neoadjuvant Treatment for Resectable Pancreatic Adenocarcinoma Recruiting NCT02850874 Phase 2
27 Study of Propranolol in Newly Diagnosed Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy Recruiting NCT01847001 Phase 2
28 Neoadjuvant Dabrafenib + Trametinib for AJCC Stage IIIB-C BRAF V600 Mutation Positive Melanoma Active, not recruiting NCT01972347 Phase 2
29 Radical Gastrectomy and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Locally Advanced Gastric Cancer Not yet recruiting NCT02528110 Phase 2
30 Radical Gastrectomy and Hyperthermic Intraperitoneal Chemotherapy (HIPEC) in Locally Advanced Colorectal Cancer Not yet recruiting NCT02830139 Phase 2
31 Sevoflurane Sedation on Intra Cranial Pressure in Traumatic Brain Injury Patients Terminated NCT01374633 Phase 2
32 Mitomycin as a Hyperthermic Peritoneal Perfusion in Treating Patients With Malignant Ascites Terminated NCT00265863 Phase 2
33 Panitumumab and Irinotecan for Malignant Gliomas Terminated NCT01017653 Phase 2
34 Palifermin in Preventing Oral Mucositis Caused by Chemotherapy and/or Radiation Therapy in Young Patients Undergoing Stem Cell Transplant Withdrawn NCT00728585 Phase 2
35 Extrapleural Pneumonectomy /Pleurectomy Decortication, IHOC Cisplatin and Gemcitabine With Amifostine and Sodium Thiosulfate Cytoprotection for Resectable Malignant Pleural Mesothelioma Completed NCT00571298 Phase 1
36 Pleurectomy/Decortication Followed by Intrathoracic/Intraperitoneal Heated Cisplatin for Malignant Pleural Mesothelioma Completed NCT00165555 Phase 1
37 Effect of Oncothermia on Improvement of Quality of Life in Unresectable Pancreatic Cancer Patients Completed NCT02150135 Phase 1
38 Prolonged or Standard Infusion of Cefepime Hydrochloride in Treating Patients With Febrile Neutropenia Completed NCT01484015 Phase 1
39 Study of Cytoreductive Surgery and Hyperthermic Intraoperative Chemotherapy With Pemetrexed and Cisplatin for Malignant Pleural Mesotheliomas Recruiting NCT02838745 Phase 1
40 T Cells Expressing a Fully-Human Anti-CD30 Chimeric Antigen Receptor for Treating CD30-Expressing Lymphomas Recruiting NCT03049449 Phase 1
41 Apatinib and Irinotecan Combination Treatment in Esophageal Squamous Cell Carcinoma Recruiting NCT02645864 Phase 1
42 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
43 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
44 Efficacy of Chemotherapy Combined With Regional Hypothermia in Advanced Malignant Melanoma Patients With Progressive Soft Tissue Metastases Unknown status NCT00264056
45 Registry of Febrile Neutropenia and Invasive Fungal Infections Unknown status NCT01684189
46 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Unknown status NCT00933296
47 Effect of an Electronic Cognitive Aid Versus Static Cognitive Aid on the Management of a Simulated Crisis Completed NCT02440607
48 Video-assisted Hyperthermic Pleural Chemoperfusion vs Talc Pleurodesis for Refractory Malignant Pleural Effusions. Completed NCT01409551
49 A Prospective Registry for Febrile Events in Patients With Malignant Hemopathies or Subjected to Haematopoietic Stem Cell Transplant Completed NCT01069887
50 Nivestim® (Filgrastim) Tolerance in Patients Treated by Toxic Chemotherapeutic Agents Completed NCT01574235

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, Testes, Heart, Liver, Brain, B Cells, Placenta

Publications for Malignant Hyperthermia

Articles related to Malignant Hyperthermia:

(show top 50) (show all 784)
id Title Authors Year
1
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. ( 28403410 )
2017
2
Dantrolene requires Mg(2+) to arrest malignant hyperthermia. ( 28373535 )
2017
3
Malignant Hyperthermia Susceptibility and Fitness for Duty. ( 28290972 )
2017
4
Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings. ( 28430550 )
2017
5
Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. ( 28465322 )
2017
6
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. ( 28326467 )
2017
7
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency. ( 28259615 )
2017
8
JSA guideline for the management of malignant hyperthermia crisis 2016. ( 28246924 )
2017
9
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
10
Anesthesia-induced rhabdomyolysis or malignant hyperthermia: is defining the crisis important? ( 28306187 )
2017
11
Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility. ( 28063098 )
2017
12
Mind the magnesium, in dantrolene suppression of malignant hyperthermia. ( 28442565 )
2017
13
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
14
Suspected Malignant Hyperthermia in the Setting of Hypothermic Circulatory Arrest for Type A Aortic Dissection Repair: A Case Report. ( 28079659 )
2017
15
Are children with Cornelia de Lange syndrome at risk for malignant hyperthermia? ( 28101981 )
2017
16
A case report of suspected malignant hyperthermia where patient survived the episode. ( 28442967 )
2017
17
Prevalence of malignant hyperthermia diagnosis in hospital discharge records in California, Florida, New York, and Wisconsin. ( 28494877 )
2017
18
Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy. ( 28303866 )
2017
19
Leaky ryanodine receptors delay the activation of store overload-induced Ca2+ release, a mechanism underlying malignant hyperthermia-like events in dystrophic muscle. ( 26825125 )
2016
20
Malignant Hyperthermia, Exertional Heat Illness, and RYR1 Variants: The Muscle May Not Be the Brain. ( 26785433 )
2016
21
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ( 27586648 )
2016
22
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia. ( 27147545 )
2016
23
Clinical protocol for the management of malignant hyperthermia. ( 27633384 )
2016
24
An automated real-time method for the detection of patients at risk for malignant hyperthermia. ( 27346873 )
2016
25
Review of crisis resource management (CRM) principles in the setting of intraoperative malignant hyperthermia. ( 26679497 )
2016
26
Pharmacogenetics and Pathophysiology of CACNA1S Mutations in Malignant Hyperthermia. ( 28011884 )
2016
27
Suspected Malignant Hyperthermia During Biventricular Assist Device Implantation in a Patient With Left Ventricular Noncompaction Cardiomyopathy. ( 27842951 )
2016
28
Functional analysis of RYR1 variants linked to malignant hyperthermia. ( 27857962 )
2016
29
Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals. ( 27646467 )
2016
30
Malignant Hyperthermia-Associated Mutations in S2-S3 Cytoplasmic Loop of Type 1 Ryanodine Receptor Calcium Channel Impair Calcium-Dependent Inactivation. ( 27558158 )
2016
31
Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery. ( 28078069 )
2016
32
Anesthetic management of donor nephrectomy for a recipient with history of malignant hyperthermia: avoiding a transferred trigger. ( 27185722 )
2016
33
Repeated nonanesthetic malignant hyperthermia reactions in a child. ( 27562486 )
2016
34
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features. ( 27918309 )
2016
35
Rare postoperative delayed malignant hyperthermia after off-pump coronary bypass surgery and brief review of literature. ( 27052086 )
2016
36
Research shines new light on malignant hyperthermia. ( 27295843 )
2016
37
Readiness for malignant hyperthermia can be survey stumbling block. ( 27261225 )
2016
38
Clinical treatment of malignant hyperthermia in three cases. ( 27882090 )
2016
39
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
40
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
41
Pontocerebellar hypoplasia, malignant hyperthermia, and inappropriate use of secondary references. ( 27370523 )
2016
42
Management of acute epiglottitis in an infant with a family history of malignant hyperthermia. ( 26742949 )
2016
43
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. ( 26951757 )
2016
44
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. ( 27271339 )
2016
45
Using Informatics to Improve the Care of Patients Susceptible to Malignant Hyperthermia. ( 27004500 )
2016
46
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient. ( 27555149 )
2016
47
Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual. ( 27854207 )
2016
48
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. ( 27382027 )
2016
49
Malignant hyperthermia in a 6-month-old infant. ( 27375398 )
2016
50
Using a Vulnerability Theoretical Model to Assess the Malignant Hyperthermia Susceptible Population: Implications for Advanced Practice Emergency Nurses. ( 26218487 )
2015

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 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2 SCN4A
2
Show member pathways
13.05 CACNA1S CACNA2D1 CACNG1 QDPR RYR1 RYR2
3
Show member pathways
12.64 CACNA1S CACNA2D1 CACNG1 SCN4A
4
Show member pathways
12.64 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
5
Show member pathways
12.49 ASPH CACNA1S CACNA2D1 CACNG1 DMD RYR1
6
Show member pathways
12.3 CACNA1S CASQ1 RYR1 RYR2
7
Show member pathways
12.26 CACNA1S CACNA2D1 CACNG1 DMD RYR2
8
Show member pathways
12.19 CACNA1S CACNA2D1 CACNG1 DMD RYR1 RYR2
9
Show member pathways
12.07 CACNA1S CACNA2D1 CACNG1
10
Show member pathways
12 CACNA1S CACNA2D1 CACNG1 DMD RYR2
11
Show member pathways
11.99 CACNA1S RYR1 RYR2
12 11.87 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
13
Show member pathways
11.83 CACNA1S CACNA2D1 CACNG1
14 11.63 CACNA1S CACNA2D1 CACNG1 RYR2
15
Show member pathways
11.58 CACNA1S CACNA2D1 CACNG1 SCN4A
16 10.71 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
17 10.64 RYR1 RYR2
18 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 voltage-gated calcium channel complex GO:0005891 9.54 CACNA1S CACNA2D1 CACNG1
2 smooth endoplasmic reticulum GO:0005790 9.5 CASQ1 RYR1 RYR2
3 myofibril GO:0030016 9.48 CASQ1 DMD
4 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 RYR2
5 T-tubule GO:0030315 9.46 CACNA1S CACNA2D1 CASQ1 RYR1
6 L-type voltage-gated calcium channel complex GO:1990454 9.43 CACNA1S CACNA2D1
7 I band GO:0031674 9.43 CACNA1S CASQ1 RYR1
8 terminal cisterna GO:0014802 9.4 CASQ1 RYR1
9 sarcoplasmic reticulum membrane GO:0033017 9.26 ASPH CASQ1 RYR1 RYR2
10 sarcoplasmic reticulum GO:0016529 9.02 ASPH CACNA2D1 CASQ1 RYR1 RYR2

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 CACNA1S RYR1 RYR2 SCN4A
2 ion transport GO:0006811 9.91 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2 SCN4A
3 ion transmembrane transport GO:0034220 9.8 ASPH CASQ1 RYR1 RYR2 SCN4A
4 response to hypoxia GO:0001666 9.77 MB RYR1 RYR2
5 regulation of ion transmembrane transport GO:0034765 9.77 CACNA1S CACNA2D1 CACNG1 RYR1 SCN4A
6 cardiac conduction GO:0061337 9.67 CACNA1S CACNA2D1 CACNG1
7 cardiac muscle contraction GO:0060048 9.63 DMD RYR2
8 release of sequestered calcium ion into cytosol GO:0051209 9.62 RYR1 RYR2
9 regulation of cardiac conduction GO:1903779 9.62 ASPH CASQ1 RYR1 RYR2
10 regulation of cytosolic calcium ion concentration GO:0051480 9.61 RYR1 RYR2
11 regulation of heart rate GO:0002027 9.61 DMD RYR2
12 membrane depolarization during action potential GO:0086010 9.6 CACNA1S SCN4A
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 CASQ1 DMD
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.58 DMD RYR2
15 response to muscle stretch GO:0035994 9.57 DMD RYR2
16 calcium ion transport into cytosol GO:0060402 9.56 CACNA2D1 RYR2
17 response to denervation involved in regulation of muscle adaptation GO:0014894 9.55 CASQ1 DMD
18 calcium ion transport GO:0006816 9.55 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
19 response to caffeine GO:0031000 9.54 RYR1 RYR2
20 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.52 RYR1 RYR2
21 sarcoplasmic reticulum calcium ion transport GO:0070296 9.51 CACNG1 RYR2
22 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion GO:0014809 9.48 CASQ1 DMD
23 cellular response to caffeine GO:0071313 9.43 CACNA1S RYR1 RYR2
24 calcium ion transmembrane transport GO:0070588 9.35 CACNA1S CACNA2D1 CACNG1 RYR1 RYR2
25 muscle contraction GO:0006936 9.02 ASPH CACNA1S CACNG1 RYR1 SCN4A
26 transport GO:0006810 10.06 CACNA1S CACNA2D1 CACNG1 CPT2 MB RYR1

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 structural constituent of muscle GO:0008307 9.4 ASPH DMD
3 calcium-release channel activity GO:0015278 9.32 RYR1 RYR2
4 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR1 RYR2
5 voltage-gated calcium channel activity GO:0005245 9.26 CACNA1S CACNA2D1 CACNG1 RYR1
6 calcium-induced calcium release activity GO:0048763 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
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