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<meta name="keywords" content="C1866077, cacna1s, cacna1s malignant hyperthermia of anaesthesia, cacna1s malignant hyperthermia of anesthesia, cacna1s-related malignant hyperthermia susceptibility, finding, malignant hyperpyrexia susceptibility type 5, malignant hyperthermia of anaesthesia caused by mutation in cacna1s, malignant hyperthermia of anesthesia caused by mutation in cacna1s, malignant hyperthermia susceptibility 5, malignant hyperthermia susceptibility type 5, malignant hyperthermia, susceptibility to, 5, malignant hyperthermia, susceptibility to, type 5, mhs5, susceptibility to malignant hyperthermia 5, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=356151
|
||
ConceptID=C1866077
|
||
-->
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||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1146/bin/mhs-Image002.gif" src-large="/books/NBK1146/bin/mhs-Image002.jpg" /></a><br /><a href="/books/NBK1146/figure/mhs.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1146/bin/mhs-Image001.gif" src-large="/books/NBK1146/bin/mhs-Image001.jpg" /></a><br /><a href="/books/NBK1146/figure/mhs.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Malignant hyperthermia, susceptibility to, 5<span class="h1sub">(MHS5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CACNA1S-Related Malignant Hyperthermia Susceptibility; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5; MHS5</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CACNA1S - ID: 779 - NCBI Gene" href="/gene/779" class="medgenPMinfo">CACNA1S</a> (1q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011163" target="_blank">MONDO:0011163</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601887" target="_blank">601887</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1146" target="_blank">Malignant Hyperthermia Susceptibility</a></div><div>Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1146#mhs.Summary" target="NBK1146">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Diagnosis" target="NBK1146">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Clinical_Characteristics" target="NBK1146">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Genetically_Related_Allelic_Disorder" target="NBK1146">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Differential_Diagnosis" target="NBK1146">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Management" target="NBK1146">Management</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Genetic_Counseling" target="NBK1146">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Resources" target="NBK1146">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Molecular_Genetics" target="NBK1146">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Chapter_Notes" target="NBK1146">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.References" target="NBK1146">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Henry Rosenberg | Nyamkhishig Sambuughin | Sheila Riazi<i>, et. al.</i> <a href="/books/NBK1146" target="NBK1146" title="NCBI Bookshelf: Malignant Hyperthermia Susceptibility">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Malignant hyperthermia-5 (MHS5) is a muscle disorder in which an episode is triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. A fulminant malignant hyperthermia crisis is characterized by hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis (summary by Monnier et al., 1997).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600). <a target="_blank" href="http://www.omim.org/entry/601887">http://www.omim.org/entry/601887</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />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.)<br /><br />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.<br /><br />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.<br /><br />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia">https://medlineplus.gov/genetics/condition/malignant-hyperthermia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9359"><div><strong>Hypercapnia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9359</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally elevated blood carbon dioxide (CO2) level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9359">Feature record</a> | <a href="/medgen?term=%22Hypercapnia%22%5BClinical%20Features%5D%20OR%209359%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830388"><div><strong>Malignant hyperthermia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5779784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830388">Feature record</a> | <a href="/medgen?term=%22Malignant%20hyperthermia%22%5BClinical%20Features%5D%20OR%201830388%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercapnia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1813067" ref="tree=GTR&ncbi_uid=1813067&link_uid=1813067" title="View MedGen record for 'Rare disease with malignant hyperthermia'">Rare disease with malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850625[DISCUI]&test_type=Clinical" ref="ncbi_uid=340586">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340586" target="_blank" href="/omim/255995">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK542808/" ref="ncbi_uid=340586">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340586" ref="ncbi_uid=340586">V</a></span></span><span class="TLline"><a href="/medgen/340586" ref="tree=GTR&ncbi_uid=340586&link_uid=340586" title="View MedGen record for 'Bailey-Bloch congenital myopathy'">Bailey-Bloch congenital myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840365[DISCUI]&test_type=Clinical" ref="ncbi_uid=327082">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327082" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=327082" ref="ncbi_uid=327082">V</a></span></span><span class="TLline"><a href="/medgen/327082" ref="tree=GTR&ncbi_uid=327082&link_uid=327082" title="View MedGen record for 'King Denborough syndrome'">King Denborough syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830388" target="_blank" href="/omim/145600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1830388" ref="tree=GTR&ncbi_uid=1830388&link_uid=1830388" title="View MedGen record for 'Malignant hyperthermia'">Malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1814609" ref="tree=GTR&ncbi_uid=1814609&link_uid=1814609" title="View MedGen record for 'Exercise-induced malignant hyperthermia'">Exercise-induced malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/808142" ref="tree=GTR&ncbi_uid=808142&link_uid=808142" title="View MedGen record for 'Malignant hyperthermia and exertional rhabdomyolosis'">Malignant hyperthermia and exertional rhabdomyolosis</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024591[DISCUI]&test_type=Clinical" ref="ncbi_uid=9867">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9867" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=9867">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9867" ref="ncbi_uid=9867">V</a></span></span><span class="TLline"><a href="/medgen/9867" ref="tree=GTR&ncbi_uid=9867&link_uid=9867" title="View MedGen record for 'Malignant hyperthermia of anesthesia'">Malignant hyperthermia of anesthesia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=1728755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1728755" ref="ncbi_uid=1728755">V</a></span></span><span class="TLline"><a href="/medgen/1728755" ref="tree=GTR&ncbi_uid=1728755&link_uid=1728755" title="View MedGen record for 'Malignant hyperthermia, susceptibility to'">Malignant hyperthermia, susceptibility to</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930980[DISCUI]&test_type=Clinical" ref="ncbi_uid=443948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443948" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=443948">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443948" ref="ncbi_uid=443948">V</a></span></span><span class="TLline"><a href="/medgen/443948" ref="tree=GTR&ncbi_uid=443948&link_uid=443948" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 1'">Malignant hyperthermia, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930981[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=419301">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419301" target="_blank" href="/omim/154275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=419301">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419301" ref="tree=GTR&ncbi_uid=419301&link_uid=419301" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 2'">Malignant hyperthermia, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930982[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=418956" target="_blank" href="/omim/154276">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=418956">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/418956" ref="tree=GTR&ncbi_uid=418956&link_uid=418956" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 3'">Malignant hyperthermia, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838102[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324944" target="_blank" href="/omim/600467">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=324944">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324944" ref="tree=GTR&ncbi_uid=324944&link_uid=324944" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 4'">Malignant hyperthermia, susceptibility to, 4</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866077[DISCUI]&test_type=Clinical" ref="ncbi_uid=356151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356151" target="_blank" href="/omim/114208">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356151">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356151" ref="ncbi_uid=356151">V</a></span></span><span class="TLline">Malignant hyperthermia, susceptibility to, 5</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866076[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=356150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356150" target="_blank" href="/omim/601888">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/356150" ref="tree=GTR&ncbi_uid=356150&link_uid=356150" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 6'">Malignant hyperthermia, susceptibility to, 6</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Clinical" ref="ncbi_uid=75731">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75731">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75731" ref="ncbi_uid=75731">V</a></span></span><span class="TLline"><a href="/medgen/75731" ref="tree=GTR&ncbi_uid=75731&link_uid=75731" title="View MedGen record for 'Multiminicore myopathy'">Multiminicore myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830701[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841337" target="_blank" href="/omim/117000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841337" ref="ncbi_uid=1841337">V</a></span></span><span class="TLline"><a href="/medgen/1841337" ref="tree=GTR&ncbi_uid=1841337&link_uid=1841337" title="View MedGen record for 'Central core myopathy'">Central core myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850674[DISCUI]&test_type=Clinical" ref="ncbi_uid=340597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340597" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340597" ref="ncbi_uid=340597">V</a></span></span><span class="TLline"><a href="/medgen/340597" ref="tree=GTR&ncbi_uid=340597&link_uid=340597" title="View MedGen record for 'Congenital multicore myopathy with external ophthalmoplegia'">Congenital multicore myopathy with external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347490" target="_blank" href="/omim/217150">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347490" ref="tree=GTR&ncbi_uid=347490&link_uid=347490" title="View MedGen record for 'Multiple pterygium-malignant hyperthermia syndrome'">Multiple pterygium-malignant hyperthermia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/10320" ref="tree=GTR&ncbi_uid=10320&link_uid=10320" title="View MedGen record for 'Neuroleptic malignant syndrome'">Neuroleptic malignant syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/152119" ref="tree=GTR&ncbi_uid=152119&link_uid=152119" title="View MedGen record for 'Serotonin syndrome'">Serotonin syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/330395" ref="tree=MeSH" title="MedGen record for Abnormality of temperature regulation">Abnormality of temperature regulation</a></span><ul><li><span class="TLline"><a href="/medgen/1830388" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia">Malignant hyperthermia</a></span><ul><li><span class="TLline"><a href="/medgen/1728755" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to">Malignant hyperthermia, susceptibility to</a></span><ul><li><span class="matched_ds">Malignant hyperthermia, susceptibility to, 5</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35660936">Management of patients susceptible to malignant hyperthermia: A surgeon's perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlson KJ,
|
||
Sun SA,
|
||
Swan C,
|
||
Koenig M,
|
||
Derkay CS</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2022 Aug;159:111187.
|
||
Epub 2022 May 30
|
||
doi: 10.1016/j.ijporl.2022.111187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35660936" target="_blank">35660936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30768455">Consensus Statement of the Malignant Hyperthermia Association of the United States on Unresolved Clinical Questions Concerning the Management of Patients With Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litman RS,
|
||
Smith VI,
|
||
Larach MG,
|
||
Mayes L,
|
||
Shukry M,
|
||
Theroux MC,
|
||
Watt S,
|
||
Wong CA</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2019 Apr;128(4):652-659.
|
||
doi: 10.1213/ANE.0000000000004039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768455" target="_blank">30768455</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(malignant%20hyperthermia%2C%20susceptibility%20to%2C%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (14)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Malignant-Hyperthermia.pdf" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, RYR1 and CACNA1S Pathogenic Variants (Malignant Hyperthermia), 2019</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_MalignantHyperthermia-enPro649.pdf" target="_blank">Orphanet Emergency Guidelines: Malignant hyperthermia</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28011884">Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beam TA,
|
||
Loudermilk EF,
|
||
Kisor DF</span><br />
|
||
<span class="medgenPMjournal">Physiol Genomics</span>
|
||
2017 Feb 1;49(2):81-87.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1152/physiolgenomics.00126.2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28011884" target="_blank">28011884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22488207">Malignant hyperthermia: turn down the heat.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell-Brown F</span><br />
|
||
<span class="medgenPMjournal">Nursing</span>
|
||
2012 May;42(5):38-44; quiz 44-5.
|
||
doi: 10.1097/01.NURSE.0000413609.98565.96.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22488207" target="_blank">22488207</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17456235">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Davis M,
|
||
James D,
|
||
Pollock N,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 24;2:21.
|
||
doi: 10.1186/1750-1172-2-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17456235" target="_blank">17456235</a><a href="/pmc/articles/PMC1867813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9283674">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda AD,
|
||
Donovan LA,
|
||
Schuster LL,
|
||
Gerber DR</span><br />
|
||
<span class="medgenPMjournal">Am J Crit Care</span>
|
||
1997 Sep;6(5):368-74; quiz 375-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9283674" target="_blank">9283674</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (118)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32008650">Malignant Hyperthermia Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellinas H,
|
||
Albrecht MA</span><br />
|
||
<span class="medgenPMjournal">Anesthesiol Clin</span>
|
||
2020 Mar;38(1):165-181.
|
||
doi: 10.1016/j.anclin.2019.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32008650" target="_blank">32008650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26238698">Malignant hyperthermia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Pollock N,
|
||
Schiemann A,
|
||
Bulger T,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Aug 4;10:93.
|
||
doi: 10.1186/s13023-015-0310-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26238698" target="_blank">26238698</a><a href="/pmc/articles/PMC4524368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17456235">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Davis M,
|
||
James D,
|
||
Pollock N,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 24;2:21.
|
||
doi: 10.1186/1750-1172-2-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17456235" target="_blank">17456235</a><a href="/pmc/articles/PMC1867813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14661655">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali SZ,
|
||
Taguchi A,
|
||
Rosenberg H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Anaesthesiol</span>
|
||
2003 Dec;17(4):519-33.
|
||
doi: 10.1016/j.bpa.2003.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14661655" target="_blank">14661655</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (164)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33399225">Malignant hyperthermia 2020: Guideline from the Association of Anaesthetists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopkins PM,
|
||
Girard T,
|
||
Dalay S,
|
||
Jenkins B,
|
||
Thacker A,
|
||
Patteril M,
|
||
McGrady E</span><br />
|
||
<span class="medgenPMjournal">Anaesthesia</span>
|
||
2021 May;76(5):655-664.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1111/anae.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33399225" target="_blank">33399225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17456235">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Davis M,
|
||
James D,
|
||
Pollock N,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 24;2:21.
|
||
doi: 10.1186/1750-1172-2-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17456235" target="_blank">17456235</a><a href="/pmc/articles/PMC1867813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14661655">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali SZ,
|
||
Taguchi A,
|
||
Rosenberg H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Anaesthesiol</span>
|
||
2003 Dec;17(4):519-33.
|
||
doi: 10.1016/j.bpa.2003.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14661655" target="_blank">14661655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9798607">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denborough M</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1998 Oct 3;352(9134):1131-6.
|
||
doi: 10.1016/S0140-6736(98)03078-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9798607" target="_blank">9798607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1575119">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore JL,
|
||
Rice EL</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1992 May;45(5):2245-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1575119" target="_blank">1575119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (79)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068350">Lethal multiple pterygium syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohtisham FS,
|
||
Sallam A,
|
||
Shawli A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 May 8;12(5)
|
||
doi: 10.1136/bcr-2018-229045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068350" target="_blank">31068350</a><a href="/pmc/articles/PMC6506140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28011884">Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beam TA,
|
||
Loudermilk EF,
|
||
Kisor DF</span><br />
|
||
<span class="medgenPMjournal">Physiol Genomics</span>
|
||
2017 Feb 1;49(2):81-87.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1152/physiolgenomics.00126.2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28011884" target="_blank">28011884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23842196">Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riazi S,
|
||
Larach MG,
|
||
Hu C,
|
||
Wijeysundera D,
|
||
Massey C,
|
||
Kraeva N</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2014 Feb;118(2):381-387.
|
||
doi: 10.1213/ANE.0b013e3182937d8b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23842196" target="_blank">23842196</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24195946">Using exome data to identify malignant hyperthermia susceptibility mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonsalves SG,
|
||
Ng D,
|
||
Johnston JJ,
|
||
Teer JK,
|
||
Stenson PD,
|
||
Cooper DN,
|
||
Mullikin JC,
|
||
Biesecker LG;
|
||
NISC Comparative Sequencing Program</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2013 Nov;119(5):1043-53.
|
||
doi: 10.1097/ALN.0b013e3182a8a8e7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24195946" target="_blank">24195946</a><a href="/pmc/articles/PMC4077354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6999950">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gronert GA</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
1980 Nov;53(5):395-423.
|
||
doi: 10.1097/00000542-198011000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6999950" target="_blank">6999950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34626754">Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade PMV,
|
||
Valim LÍM,
|
||
Santos JMD,
|
||
Castro I,
|
||
Amaral JLGD,
|
||
Silva HCAD</span><br />
|
||
<span class="medgenPMjournal">Braz J Anesthesiol</span>
|
||
2023 Mar-Apr;73(2):132-137.
|
||
Epub 2021 Oct 6
|
||
doi: 10.1016/j.bjane.2021.07.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34626754" target="_blank">34626754</a><a href="/pmc/articles/PMC10068523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35738978">Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riazi S,
|
||
Bersselaar LRVD,
|
||
Islander G,
|
||
Heytens L,
|
||
Snoeck MMJ,
|
||
Bjorksten A,
|
||
Gillies R,
|
||
Dranitsaris G,
|
||
Hellblom A,
|
||
Treves S,
|
||
Kunst G,
|
||
Voermans NC,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2022 Aug;32(8):628-634.
|
||
Epub 2022 Jun 11
|
||
doi: 10.1016/j.nmd.2022.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35738978" target="_blank">35738978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28952030">Idiopathic hyperCKemia and malignant hyperthermia susceptibility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos JM,
|
||
Andrade PV,
|
||
Galleni L,
|
||
Vainzof M,
|
||
Sobreira CFR,
|
||
Schmidt B,
|
||
Oliveira ASB,
|
||
Amaral JLG,
|
||
Silva HCA</span><br />
|
||
<span class="medgenPMjournal">Can J Anaesth</span>
|
||
2017 Dec;64(12):1202-1210.
|
||
Epub 2017 Sep 26
|
||
doi: 10.1007/s12630-017-0978-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28952030" target="_blank">28952030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28011884">Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beam TA,
|
||
Loudermilk EF,
|
||
Kisor DF</span><br />
|
||
<span class="medgenPMjournal">Physiol Genomics</span>
|
||
2017 Feb 1;49(2):81-87.
|
||
Epub 2016 Dec 23
|
||
doi: 10.1152/physiolgenomics.00126.2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28011884" target="_blank">28011884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6999950">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gronert GA</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
1980 Nov;53(5):395-423.
|
||
doi: 10.1097/00000542-198011000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6999950" target="_blank">6999950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (70)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33250373">HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruijt N,
|
||
van den Bersselaar LR,
|
||
Wijma J,
|
||
Verbeeck W,
|
||
Coenen MJH,
|
||
Neville J,
|
||
Snoeck M,
|
||
Kamsteeg EJ,
|
||
Jungbluth H,
|
||
Kramers C,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 Dec;30(12):949-958.
|
||
Epub 2020 Oct 31
|
||
doi: 10.1016/j.nmd.2020.10.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33250373" target="_blank">33250373</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1866077%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866077%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866077%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1866077%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1866077%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601887" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Malignant%20hyperthermia,%20susceptibility%20to,%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(malignant%20hyperthermia%2C%20susceptibility%20to%2C%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%205%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Malignant-Hyperthermia.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, RYR1 and CACNA1S Pathogenic Variants (Malignant Hyperthermia), 2019</div></li><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_MalignantHyperthermia-enPro649.pdf">Orphanet, 2013</a><div>Orphanet Emergency Guidelines: Malignant hyperthermia</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=114208" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=779[geneid]" target="_blank">View CACNA1S variations in ClinVar</a></li><li><a href="/nuccore/223972654" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=601887" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Malignant+hyperthermia+susceptibility+type+5/4430" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/malignant_hyperthermia_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Malignant%20hyperthermia,%20susceptibility%20to,%205" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3367/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301325" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Malignant%20hyperthermia,%20susceptibility%20to,%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Malignant%20hyperthermia,%20susceptibility%20to,%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=356151" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=356151" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1866077[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1866077[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=356151" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=356151" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=356151" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=356151" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=356151" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=356151" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=356151" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=356151" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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