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<meta name="keywords" content="C3809198, disease or syndrome, kcnk3, kcnk3 primary pulmonary hypertension, pph4, primary pulmonary hypertension caused by mutation in kcnk3, pulmonary hypertension, primary, 4, pulmonary hypertension, primary, type 4, 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="Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815528
|
||
ConceptID=C3809198
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pulmonary hypertension, primary, 4<span class="h1sub">(PPH4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815528</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."><span class="highlight" style="background-color:">C3809198</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>PPH4; PULMONARY HYPERTENSION, PRIMARY, 4</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="KCNK3 - ID: 3777 - NCBI Gene" href="/gene/3777" class="medgenPMinfo">KCNK3</a> (2p23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014136" target="_blank">MONDO:0014136</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615344" target="_blank">615344</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.<br /><br />Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension">https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension</a></div></div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_13955"><div><strong>Atrial flutter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13955</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.">C0004239</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13955">Feature record</a> | <a href="/medgen?term=%22Atrial%20flutter%22%5BClinical%20Features%5D%20OR%2013955%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43215"><div><strong>First degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43215</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.">C0085614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43215">Feature record</a> | <a href="/medgen?term=%22First%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2043215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_88445"><div><strong>Right bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88445</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.">C0085615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88445">Feature record</a> | <a href="/medgen?term=%22Right%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%2088445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356775"><div><strong>Increased pulmonary vascular resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356775</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.">C1867423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356775">Feature record</a> | <a href="/medgen?term=%22Increased%20pulmonary%20vascular%20resistance%22%5BClinical%20Features%5D%20OR%20356775%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812247"><div><strong>Elevated pulmonary artery pressure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812247</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.">C3805917</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally elevated blood pressure in the circulation of the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812247">Feature record</a> | <a href="/medgen?term=%22Elevated%20pulmonary%20artery%20pressure%22%5BClinical%20Features%5D%20OR%20812247%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1783495"><div><strong>Pulmonary arterial hypertension with lack of acute response to NO challenge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1783495</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.">C5539584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1783495">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%20with%20lack%20of%20acute%20response%20to%20NO%20challenge%22%5BClinical%20Features%5D%20OR%201783495%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21532"><div><strong>Thromboembolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21532</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.">C0040038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21532">Feature record</a> | <a href="/medgen?term=%22Thromboembolism%22%5BClinical%20Features%5D%20OR%2021532%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thromboembolism</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_13955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial flutter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated pulmonary artery pressure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">First degree atrioventricular block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased pulmonary vascular resistance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1783495" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension with lack of acute response to NO challenge</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right bundle branch block</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152171[DISCUI]&test_type=Clinical" ref="ncbi_uid=57749">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57749" ref="ncbi_uid=57749">V</a></span></span><span class="TLline"><a href="/medgen/57749" ref="tree=GTR&ncbi_uid=57749&link_uid=57749" title="View MedGen record for 'Primary pulmonary hypertension'">Primary pulmonary hypertension</a></span><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 Ocolor" title="OMIM"><a ref="ncbi_uid=468368" target="_blank" href="/omim/178600">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=468368" ref="ncbi_uid=468368">V</a></span></span><span class="TLline"><a href="/medgen/468368" ref="tree=GTR&ncbi_uid=468368&link_uid=468368" title="View MedGen record for 'Idiopathic pulmonary arterial hypertension'">Idiopathic pulmonary arterial hypertension</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=C5679820[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1825946">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1825946" ref="ncbi_uid=1825946">V</a></span></span><span class="TLline"><a href="/medgen/1825946" ref="tree=GTR&ncbi_uid=1825946&link_uid=1825946" title="View MedGen record for 'Idiopathic and/or familial pulmonary arterial hypertension'">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/90953" ref="tree=GTR&ncbi_uid=90953&link_uid=90953" title="View MedGen record for 'Heritable pulmonary arterial hypertension'">Heritable pulmonary arterial hypertension</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=C5676877[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1802382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1802382" target="_blank" href="/omim/265400">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=1802382" ref="ncbi_uid=1802382">V</a></span></span><span class="TLline"><a href="/medgen/1802382" ref="tree=GTR&ncbi_uid=1802382&link_uid=1802382" title="View MedGen record for 'Pulmonary hypertension, primary, autosomal recessive'">Pulmonary hypertension, primary, autosomal recessive</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/468368" ref="tree=MeSH" title="MedGen record for Idiopathic pulmonary arterial hypertension">Idiopathic pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/468368" ref="tree=MeSH" title="MedGen record for Idiopathic pulmonary arterial hypertension">Idiopathic pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/90953" ref="tree=MeSH" title="MedGen record for Heritable pulmonary arterial hypertension">Heritable pulmonary arterial hypertension</a></span><ul><li><span class="matched_ds">Pulmonary hypertension, primary, 4</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/37787793">Adherence to CPAP Treatment and the Risk of Recurrent Cardiovascular Events: A Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sánchez-de-la-Torre M,
|
||
Gracia-Lavedan E,
|
||
Benitez ID,
|
||
Sánchez-de-la-Torre A,
|
||
Moncusí-Moix A,
|
||
Torres G,
|
||
Loffler K,
|
||
Woodman R,
|
||
Adams R,
|
||
Labarca G,
|
||
Dreyse J,
|
||
Eulenburg C,
|
||
Thunström E,
|
||
Glantz H,
|
||
Peker Y,
|
||
Anderson C,
|
||
McEvoy D,
|
||
Barbé F</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2023 Oct 3;330(13):1255-1265.
|
||
doi: 10.1001/jama.2023.17465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37787793" target="_blank">37787793</a><a href="/pmc/articles/PMC10548300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34953525">Abiraterone acetate and prednisolone with or without enzalutamide for high-risk non-metastatic prostate cancer: a meta-analysis of primary results from two randomised controlled phase 3 trials of the STAMPEDE platform protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Attard G,
|
||
Murphy L,
|
||
Clarke NW,
|
||
Cross W,
|
||
Jones RJ,
|
||
Parker CC,
|
||
Gillessen S,
|
||
Cook A,
|
||
Brawley C,
|
||
Amos CL,
|
||
Atako N,
|
||
Pugh C,
|
||
Buckner M,
|
||
Chowdhury S,
|
||
Malik Z,
|
||
Russell JM,
|
||
Gilson C,
|
||
Rush H,
|
||
Bowen J,
|
||
Lydon A,
|
||
Pedley I,
|
||
O'Sullivan JM,
|
||
Birtle A,
|
||
Gale J,
|
||
Srihari N,
|
||
Thomas C,
|
||
Tanguay J,
|
||
Wagstaff J,
|
||
Das P,
|
||
Gray E,
|
||
Alzoueb M,
|
||
Parikh O,
|
||
Robinson A,
|
||
Syndikus I,
|
||
Wylie J,
|
||
Zarkar A,
|
||
Thalmann G,
|
||
de Bono JS,
|
||
Dearnaley DP,
|
||
Mason MD,
|
||
Gilbert D,
|
||
Langley RE,
|
||
Millman R,
|
||
Matheson D,
|
||
Sydes MR,
|
||
Brown LC,
|
||
Parmar MKB,
|
||
James ND;
|
||
Systemic Therapy in Advancing or Metastatic Prostate cancer: Evaluation of Drug Efficacy (STAMPEDE) investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Jan 29;399(10323):447-460.
|
||
Epub 2021 Dec 23
|
||
doi: 10.1016/S0140-6736(21)02437-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34953525" target="_blank">34953525</a><a href="/pmc/articles/PMC8811484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26210619">Childhood Obesity: Causes, Consequences, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurnani M,
|
||
Birken C,
|
||
Hamilton J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Aug;62(4):821-40.
|
||
Epub 2015 May 23
|
||
doi: 10.1016/j.pcl.2015.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26210619" target="_blank">26210619</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pulmonary%20hypertension%2C%20primary%2C%204)%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 (256)</a></div></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/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
|
||
Bartolome S,
|
||
Denton CP,
|
||
Gatzoulis MA,
|
||
Gu S,
|
||
Khanna D,
|
||
Badesch D,
|
||
Montani D</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Oct;64(4)
|
||
Epub 2024 Oct 31
|
||
doi: 10.1183/13993003.01324-2024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39209475" target="_blank">39209475</a><a href="/pmc/articles/PMC11533989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36333206">Risk stratification and response to therapy in patients with pulmonary arterial hypertension and comorbidities: A COMPERA analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenkranz S,
|
||
Pausch C,
|
||
Coghlan JG,
|
||
Huscher D,
|
||
Pittrow D,
|
||
Grünig E,
|
||
Staehler G,
|
||
Vizza CD,
|
||
Gall H,
|
||
Distler O,
|
||
Delcroix M,
|
||
Ghofrani HA,
|
||
Ewert R,
|
||
Kabitz HJ,
|
||
Skowasch D,
|
||
Behr J,
|
||
Milger K,
|
||
Halank M,
|
||
Wilkens H,
|
||
Seyfarth HJ,
|
||
Held M,
|
||
Scelsi L,
|
||
Neurohr C,
|
||
Vonk-Noordegraaf A,
|
||
Ulrich S,
|
||
Klose H,
|
||
Claussen M,
|
||
Eisenmann S,
|
||
Schmidt KH,
|
||
Remppis BA,
|
||
Skride A,
|
||
Jureviciene E,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33844574">Pulmonary Hypertension.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
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<div class="nl"><a target="_blank" href="/pubmed/36333206">Risk stratification and response to therapy in patients with pulmonary arterial hypertension and comorbidities: A COMPERA analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosenkranz S,
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Skride A,
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Gumbiene L,
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<span class="bold">PMID: </span><a href="/pubmed/36333206" target="_blank">36333206</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33844574">Pulmonary Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poch D,
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Mandel J</span><br />
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2021 Apr;174(4):ITC49-ITC64.
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Epub 2021 Apr 13
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doi: 10.7326/AITC202104200.
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<span class="bold">PMID: </span><a href="/pubmed/33844574" target="_blank">33844574</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24679504">Portopulmonary hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cartin-Ceba R,
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<div class="nl"><a target="_blank" href="/pubmed/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
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Bartolome S,
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Denton CP,
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Gatzoulis MA,
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Gu S,
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Khanna D,
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Badesch D,
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Montani D</span><br />
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<span class="medgenPMjournal">Eur Respir J</span>
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2024 Oct;64(4)
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Epub 2024 Oct 31
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doi: 10.1183/13993003.01324-2024.
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<span class="bold">PMID: </span><a href="/pubmed/39209475" target="_blank">39209475</a><a href="/pmc/articles/PMC11533989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38267108">Randomized Trial of Macitentan/Tadalafil Single-Tablet Combination Therapy for Pulmonary Arterial Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grünig E,
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<div class="nl"><a target="_blank" href="/pubmed/36877098">Phase 3 Trial of Sotatercept for Treatment of Pulmonary Arterial Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoeper MM,
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<div class="nl"><a target="_blank" href="/pubmed/33440084">Inhaled Treprostinil in Pulmonary Hypertension Due to Interstitial Lung Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Waxman A,
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<span class="bold">PMID: </span><a href="/pubmed/33440084" target="_blank">33440084</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23984728">Macitentan and morbidity and mortality in pulmonary arterial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pulido T,
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Adzerikho I,
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Channick RN,
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Delcroix M,
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Galiè N,
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Ghofrani HA,
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Jansa P,
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Jing ZC,
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Le Brun FO,
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Mehta S,
|
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Mittelholzer CM,
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Perchenet L,
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Sastry BK,
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Sitbon O,
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Souza R,
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Torbicki A,
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Zeng X,
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Rubin LJ,
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Simonneau G;
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SERAPHIN Investigators</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2013 Aug 29;369(9):809-18.
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doi: 10.1056/NEJMoa1213917.
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<span class="bold">PMID: </span><a href="/pubmed/23984728" target="_blank">23984728</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%204%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 (1462)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36333206">Risk stratification and response to therapy in patients with pulmonary arterial hypertension and comorbidities: A COMPERA analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosenkranz S,
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Pausch C,
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Coghlan JG,
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Huscher D,
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Pittrow D,
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Grünig E,
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Staehler G,
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Vizza CD,
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Gall H,
|
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Distler O,
|
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Delcroix M,
|
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Ghofrani HA,
|
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Ewert R,
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Kabitz HJ,
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Skowasch D,
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Behr J,
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Milger K,
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Halank M,
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Wilkens H,
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Seyfarth HJ,
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Held M,
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Scelsi L,
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Neurohr C,
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Vonk-Noordegraaf A,
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Ulrich S,
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Klose H,
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Claussen M,
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Eisenmann S,
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Schmidt KH,
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Remppis BA,
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Skride A,
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Jureviciene E,
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Gumbiene L,
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Miliauskas S,
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Löffler-Ragg J,
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Lange TJ,
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Olsson KM,
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Hoeper MM,
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Opitz C</span><br />
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<span class="medgenPMjournal">J Heart Lung Transplant</span>
|
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2023 Jan;42(1):102-114.
|
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Epub 2022 Oct 13
|
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doi: 10.1016/j.healun.2022.10.003.
|
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<span class="bold">PMID: </span><a href="/pubmed/36333206" target="_blank">36333206</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35777416">Phenotyping of idiopathic pulmonary arterial hypertension: a registry analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoeper MM,
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Dwivedi K,
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Pausch C,
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Olsson KM,
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Grünig E,
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Staehler G,
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Vizza CD,
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Gall H,
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Distler O,
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Opitz C,
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Gibbs JSR,
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Delcroix M,
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Ghofrani HA,
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Eisenmann S,
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<span class="bold">PMID: </span><a href="/pubmed/35777416" target="_blank">35777416</a><a href="/pmc/articles/PMC9514996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34655569">Novel Mechanisms Targeted by Drug Trials in Pulmonary Arterial Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Condon DF,
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<span class="bold">PMID: </span><a href="/pubmed/34655569" target="_blank">34655569</a><a href="/pmc/articles/PMC9005865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32511981">Ripretinib in patients with advanced gastrointestinal stromal tumours (INVICTUS): a double-blind, randomised, placebo-controlled, phase 3 trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Blay JY,
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Serrano C,
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Heinrich MC,
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Meade J,
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<span class="bold">PMID: </span><a href="/pubmed/32511981" target="_blank">32511981</a><a href="/pmc/articles/PMC8383051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23102885">Moderate pulmonary embolism treated with thrombolysis (from the "MOPETT" Trial).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sharifi M,
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Bay C,
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Skrocki L,
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Rahimi F,
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<span class="bold">PMID: </span><a href="/pubmed/23102885" target="_blank">23102885</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%204%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 (1439)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36333206">Risk stratification and response to therapy in patients with pulmonary arterial hypertension and comorbidities: A COMPERA analysis.</a></div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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Ziapour A,
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Murray CJL,
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Force LM</span><br />
|
||
<span class="medgenPMjournal">JAMA Oncol</span>
|
||
2022 Mar 1;8(3):420-444.
|
||
doi: 10.1001/jamaoncol.2021.6987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34967848" target="_blank">34967848</a><a href="/pmc/articles/PMC8719276" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33857326">Thrombolytic therapy for pulmonary embolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuo Z,
|
||
Yue J,
|
||
Dong BR,
|
||
Wu T,
|
||
Liu GJ,
|
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Hao Q</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Apr 15;4(4):CD004437.
|
||
doi: 10.1002/14651858.CD004437.pub6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33857326" target="_blank">33857326</a><a href="/pmc/articles/PMC8092433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30701543">Phosphodiesterase 5 inhibitors for pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barnes H,
|
||
Brown Z,
|
||
Burns A,
|
||
Williams T</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jan 31;1(1):CD012621.
|
||
doi: 10.1002/14651858.CD012621.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30701543" target="_blank">30701543</a><a href="/pmc/articles/PMC6354064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%204%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 (88)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
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||
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<div class=" bottom">
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||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809198%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809198%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809198%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809198%5bDISCUI%5d" target="_blank">See all (27)</a></total></li>
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<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>
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<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=615344" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pulmonary%20hypertension,%20primary,%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pulmonary%20hypertension%2C%20primary%2C%204)%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(%22Pulmonary%20hypertension%2C%20primary%2C%204%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></div>
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_115">
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<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>
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<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=603220" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3777[geneid]" target="_blank">View KCNK3 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615344" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_116">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/pulmonary_hypertension_primary_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pulmonary%20hypertension,%20primary,%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
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|
||
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|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
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<a href="/pubmed/20301658" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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</li>
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<li>
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<a href="/pubmed/clinical?term=Pulmonary%20hypertension,%20primary,%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
||
<a href="/pubmed?term=Pulmonary%20hypertension,%20primary,%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b1eb15b832ebc80966d">Pulmonary hypertension, primary, 4</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b1bf4a390645eb9e342">C3809192[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(64)</span></a>
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<div class="ralinkpop offscreen_noflow">C3809192[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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