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<meta name="keywords" content="C0024117, cafl - chronic airflow limitation, cal - chronic airflow limitation, chronic airflow limitation, chronic airway disease, chronic airway obstruction, chronic irreversible airway obstruction, chronic obstructive airway disease, chronic obstructive airways disease, chronic obstructive lung disease, chronic obstructive pulmonary disease, chronic obstructive pulmonary disease (copd), chronic obstructive pulmonary disease, (copd), chronic obstructive pulmonary diseases, chronic pulmonary obstruction, coad, coad - chronic obstructive airways disease, cold, cold (chronic obstructive lung disease), cold - chronic obstructive lung disease, copd, copd - chronic obstructive pulmonary disease, copd, chronic obstructive pulmonary disease, disease (copd), chronic obstructive, disease or syndrome, hmox1, obstructive lung disease, chronic, obstructive pulmonary disease (copd), chronic, pulmonary disease (copd), chronic obstructive, pulmonary disease, chronic obstructive, 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="Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=9818
ConceptID=C0024117
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chronic obstructive pulmonary disease<span class="h1sub">(COPD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9818</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)&#10;Click for more information.">C0024117</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Chronic pulmonary obstruction</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Chronic obstructive lung disease (13645005); Chronic airway obstruction (13645005); Chronic irreversible airway obstruction (13645005); CAFL - Chronic airflow limitation (13645005); COAD - Chronic obstructive airways disease (13645005); Chronic airflow limitation (13645005); CAL - Chronic airflow limitation (13645005); COPD - Chronic obstructive pulmonary disease (13645005); Chronic obstructive airway disease (13645005); Chronic airway disease (13645005); COLD - Chronic obstructive lung disease (13645005); Chronic obstructive pulmonary disease (13645005)</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="HMOX1 - ID: 3162 - NCBI Gene" href="/gene/3162" class="medgenPMinfo">HMOX1</a> (22q12.3)</td></tr>
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/6340">SCNN1G</a>, <a target="_blank" href="/gene/6338">SCNN1B</a>, <a target="_blank" href="/gene/6337">SCNN1A</a>, <a target="_blank" href="/gene/1080">CFTR</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006510">HP:0006510</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0005002" target="_blank">MONDO:0005002</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/606963" target="_blank">606963</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_100">
<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">Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</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_9818"><div><strong>Chronic obstructive pulmonary disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9818</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)&#10;Click for more information.">C0024117</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9818">Feature record</a> | <a href="/medgen?term=%22Chronic%20obstructive%20pulmonary%20disease%22%5BClinical%20Features%5D%20OR%209818%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_9818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic obstructive pulmonary disease</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024117[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=9818">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9818" target="_blank" href="/omim/606963">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&amp;from_uid=9818" ref="ncbi_uid=9818">V</a></span></span><span class="TLline">Chronic obstructive pulmonary disease</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0006267[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=14234">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&amp;from_uid=14234" ref="ncbi_uid=14234">V</a></span></span><span class="TLline"><a href="/medgen/14234" ref="tree=GTR&amp;ncbi_uid=14234&amp;link_uid=14234" title="View MedGen record for 'Bronchiectasis'">Bronchiectasis</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/573462" ref="tree=GTR&amp;ncbi_uid=573462&amp;link_uid=573462" title="View MedGen record for 'Idiopathic bronchiectasis'">Idiopathic bronchiectasis</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=C2749757[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=440868">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440868" target="_blank" href="/omim/211400">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&amp;from_uid=440868" ref="ncbi_uid=440868">V</a></span></span><span class="TLline"><a href="/medgen/440868" ref="tree=GTR&amp;ncbi_uid=440868&amp;link_uid=440868" title="View MedGen record for 'Bronchiectasis with or without elevated sweat chloride 1'">Bronchiectasis with or without elevated sweat chloride 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=C2751666[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=414437">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414437" target="_blank" href="/omim/600228">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&amp;from_uid=414437" ref="ncbi_uid=414437">V</a></span></span><span class="TLline"><a href="/medgen/414437" ref="tree=GTR&amp;ncbi_uid=414437&amp;link_uid=414437" title="View MedGen record for 'Bronchiectasis with or without elevated sweat chloride 2'">Bronchiectasis with or without elevated sweat chloride 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=C2751324[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=414351">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414351" target="_blank" href="/omim/600761">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&amp;from_uid=414351" ref="ncbi_uid=414351">V</a></span></span><span class="TLline"><a href="/medgen/414351" ref="tree=GTR&amp;ncbi_uid=414351&amp;link_uid=414351" title="View MedGen record for 'Bronchiectasis with or without elevated sweat chloride 3'">Bronchiectasis with or without elevated sweat chloride 3</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=C0008677[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=3084">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3084" ref="tree=GTR&amp;ncbi_uid=3084&amp;link_uid=3084" title="View MedGen record for 'Chronic bronchitis'">Chronic bronchitis</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=C1847014[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=376022">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376022" target="_blank" href="/omim/606963">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&amp;from_uid=376022" ref="ncbi_uid=376022">V</a></span></span><span class="TLline"><a href="/medgen/376022" ref="tree=GTR&amp;ncbi_uid=376022&amp;link_uid=376022" title="View MedGen record for 'COPD, severe early onset'">COPD, severe early onset</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=163897" target="_blank" href="/omim/604809">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/163897" ref="tree=GTR&amp;ncbi_uid=163897&amp;link_uid=163897" title="View MedGen record for 'Diffuse panbronchiolitis'">Diffuse panbronchiolitis</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=C0034067[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=18764">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&amp;from_uid=18764" ref="ncbi_uid=18764">V</a></span></span><span class="TLline"><a href="/medgen/18764" ref="tree=GTR&amp;ncbi_uid=18764&amp;link_uid=18764" title="View MedGen record for 'Emphysema'">Emphysema</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 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/510136" ref="tree=GTR&amp;ncbi_uid=510136&amp;link_uid=510136" title="View MedGen record for 'Compensatory emphysema'">Compensatory emphysema</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=120557" target="_blank" href="/omim/130710">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/120557" ref="tree=GTR&amp;ncbi_uid=120557&amp;link_uid=120557" title="View MedGen record for 'Congenital lobar emphysema'">Congenital lobar emphysema</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=338765" target="_blank" href="/omim/130700">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/338765" ref="tree=GTR&amp;ncbi_uid=338765&amp;link_uid=338765" title="View MedGen record for 'Emphysema, hereditary pulmonary'">Emphysema, hereditary pulmonary</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/101178" ref="tree=GTR&amp;ncbi_uid=101178&amp;link_uid=101178" title="View MedGen record for 'Hyperlucent lung'">Hyperlucent lung</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/234586" ref="tree=GTR&amp;ncbi_uid=234586&amp;link_uid=234586" title="View MedGen record for 'Interstitial emphysema'">Interstitial emphysema</a></span></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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1387" ref="tree=MeSH" title="MedGen record for Airway obstruction">Airway obstruction</a></span><ul><li><span class="matched_ds">Chronic obstructive pulmonary disease</span><ul><li><span class="TLline"><a href="/medgen/871595" ref="tree=MeSH" title="MedGen record for Asthma-chronic obstructive pulmonary disease overlap syndrome">Asthma-chronic obstructive pulmonary disease overlap syndrome</a></span></li><li><span class="TLline"><a href="/medgen/14234" ref="tree=MeSH" title="MedGen record for Bronchiectasis">Bronchiectasis</a></span><ul><li><span class="TLline"><a href="/medgen/573462" ref="tree=MeSH" title="MedGen record for Idiopathic bronchiectasis">Idiopathic bronchiectasis</a></span><ul><li><span class="TLline"><a href="/medgen/440868" ref="tree=MeSH" title="MedGen record for Bronchiectasis with or without elevated sweat chloride 1">Bronchiectasis with or without elevated sweat chloride 1</a></span></li><li><span class="TLline"><a href="/medgen/414437" ref="tree=MeSH" title="MedGen record for Bronchiectasis with or without elevated sweat chloride 2">Bronchiectasis with or without elevated sweat chloride 2</a></span></li><li><span class="TLline"><a href="/medgen/414351" ref="tree=MeSH" title="MedGen record for Bronchiectasis with or without elevated sweat chloride 3">Bronchiectasis with or without elevated sweat chloride 3</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/3084" ref="tree=MeSH" title="MedGen record for Chronic bronchitis">Chronic bronchitis</a></span></li><li><span class="TLline"><a href="/medgen/57842" ref="tree=MeSH" title="MedGen record for Chronic Obstructive Asthma">Chronic Obstructive Asthma</a></span></li><li><span class="TLline"><a href="/medgen/376022" ref="tree=MeSH" title="MedGen record for COPD, severe early onset">COPD, severe early onset</a></span></li><li><span class="TLline"><a href="/medgen/163897" ref="tree=MeSH" title="MedGen record for Diffuse panbronchiolitis">Diffuse panbronchiolitis</a></span></li><li><span class="TLline"><a href="/medgen/18764" ref="tree=MeSH" title="MedGen record for Emphysema">Emphysema</a></span><ul><li><span class="TLline"><a href="/medgen/65133" ref="tree=MeSH" title="MedGen record for Centrilobular emphysema">Centrilobular emphysema</a></span></li><li><span class="TLline"><a href="/medgen/510136" ref="tree=MeSH" title="MedGen record for Compensatory emphysema">Compensatory emphysema</a></span></li><li><span class="TLline"><a href="/medgen/120557" ref="tree=MeSH" title="MedGen record for Congenital lobar emphysema">Congenital lobar emphysema</a></span></li><li><span class="TLline"><a href="/medgen/338765" ref="tree=MeSH" title="MedGen record for Emphysema, hereditary pulmonary">Emphysema, hereditary pulmonary</a></span></li><li><span class="TLline"><a href="/medgen/101178" ref="tree=MeSH" title="MedGen record for Hyperlucent lung">Hyperlucent lung</a></span></li><li><span class="TLline"><a href="/medgen/234586" ref="tree=MeSH" title="MedGen record for Interstitial emphysema">Interstitial emphysema</a></span></li><li><span class="TLline"><a href="/medgen/78106" ref="tree=MeSH" title="MedGen record for Panacinar emphysema">Panacinar emphysema</a></span></li><li><span class="TLline"><a href="/medgen/538541" ref="tree=MeSH" title="MedGen record for Paraseptal emphysema">Paraseptal emphysema</a></span></li><li><span class="TLline"><a href="/medgen/341774" ref="tree=MeSH" title="MedGen record for Pulmonary bleb">Pulmonary bleb</a></span></li><li><span class="TLline"><a href="/medgen/537120" ref="tree=MeSH" title="MedGen record for Pulmonary bulla">Pulmonary bulla</a></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_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</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)&#10;Click for more information.">C0012236</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_9818"><div><strong>Chronic obstructive pulmonary disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9818</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)&#10;Click for more information.">C0024117</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9818">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_67461"><div><strong>Alpha-1-antitrypsin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67461</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0221757</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules which may ulcerate on legs and lower abdomen) and C-ANCA-positive vasculitis (granulomatosis with polyangiitis). Phenotypic expression varies within and between families. In adults, smoking is the major factor in accelerating the development of COPD; nonsmokers may have a normal life span, but can also develop lung and/or liver disease. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as neonatal cholestasis. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67461">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338765"><div><strong>Emphysema, hereditary pulmonary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338765</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)&#10;Click for more information.">C1851718</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338765">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436379"><div><strong>Primary ciliary dyskinesia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436379</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)&#10;Click for more information.">C2675228</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436379">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815964"><div><strong>Primary ciliary dyskinesia 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815964</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)&#10;Click for more information.">C3809634</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013).&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815964">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815971"><div><strong>Primary ciliary dyskinesia 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815971</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)&#10;Click for more information.">C3809641</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815971">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_906018"><div><strong>Immunodeficiency, common variable, 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906018</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)&#10;Click for more information.">C4225277</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020).&#13; For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/906018">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_896106"><div><strong>Primary ciliary dyskinesia 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896106</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)&#10;Click for more information.">C4225311</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/896106">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648422"><div><strong>Severe combined immunodeficiency due to CARMIL2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648422</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)&#10;Click for more information.">C4748304</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648422">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684665"><div><strong>Ciliary dyskinesia, primary, 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684665</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)&#10;Click for more information.">C5231464</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684665">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1740566"><div><strong>Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1740566</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)&#10;Click for more information.">C5436549</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020).&#13; In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1740566">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1788976"><div><strong>Immunodeficiency 77</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788976</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)&#10;Click for more information.">C5543173</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; 147570) may be a therapeutic option (summary by McCormack et al., 2017 and Merselis et al., 2020).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1788976">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1802657"><div><strong>Aortic aneurysm, familial thoracic 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802657</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)&#10;Click for more information.">C5676959</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial thoracic aortic aneurysm-12 (AAT12) is characterized by dilation of the arterial wall associated with a progressive loss of its ability to withstand the wall tension generated by high intraluminal pressure, which can lead to intramural or complete acute vessel wall rupture. Some patients have dolichostenomelia (summary by Elbitar et al., 2021).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of thoracic aortic aneurysm, see AAT1 (607086).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1802657">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-1-antitrypsin deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic aneurysm, familial thoracic 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic obstructive pulmonary disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 42</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emphysema, hereditary pulmonary</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1740566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 77</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 12</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 24</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 25</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 32</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to CARMIL2 deficiency</a></div></span></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/37581410">Pulmonary Rehabilitation for Adults with Chronic Respiratory Disease: An Official American Thoracic Society Clinical Practice Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rochester CL,
Alison JA,
Carlin B,
Jenkins AR,
Cox NS,
Bauldoff G,
Bhatt SP,
Bourbeau J,
Burtin C,
Camp PG,
Cascino TM,
Dorney Koppel GA,
Garvey C,
Goldstein R,
Harris D,
Houchen-Wolloff L,
Limberg T,
Lindenauer PK,
Moy ML,
Ryerson CJ,
Singh SJ,
Steiner M,
Tappan RS,
Yohannes AM,
Holland AE</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2023 Aug 15;208(4):e7-e26.
doi: 10.1164/rccm.202306-1066ST.
<span class="bold">PMID: </span><a href="/pubmed/37581410" target="_blank">37581410</a><a href="/pmc/articles/PMC10449064" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36794439">The Diagnosis and Treatment of COPD and Its Comorbidities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kahnert K,
Jörres RA,
Behr J,
Welte T</span><br />
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
2023 Jun 23;120(25):434-444.
doi: 10.3238/arztebl.m2023.027.
<span class="bold">PMID: </span><a href="/pubmed/36794439" target="_blank">36794439</a><a href="/pmc/articles/PMC10478768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33893708">Chronic obstructive pulmonary disease exacerbation fundamentals: Diagnosis, treatment, prevention and disease impact.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">MacLeod M,
Papi A,
Contoli M,
Beghé B,
Celli BR,
Wedzicha JA,
Fabbri LM</span><br />
<span class="medgenPMjournal">Respirology</span>
2021 Jun;26(6):532-551.
Epub 2021 Apr 24
doi: 10.1111/resp.14041.
<span class="bold">PMID: </span><a href="/pubmed/33893708" target="_blank">33893708</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chronic%20obstructive%20pulmonary%20disease%22%5Btiab%3A~0%5D)%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 (3478)</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.nice.org.uk/guidance/ng202" target="_blank">UK NICE Guideline NG202, Obstructive sleep apnoea/hypopnoea syndrome and obesity hypoventilation syndrome in over 16s, 2021</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/38034468">Analyses of Factors Associated with Acute Exacerbations of Chronic Obstructive Pulmonary Disease: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qian Y,
Cai C,
Sun M,
Lv D,
Zhao Y</span><br />
<span class="medgenPMjournal">Int J Chron Obstruct Pulmon Dis</span>
2023;18:2707-2723.
Epub 2023 Nov 24
doi: 10.2147/COPD.S433183.
<span class="bold">PMID: </span><a href="/pubmed/38034468" target="_blank">38034468</a><a href="/pmc/articles/PMC10683659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37362621">Exercise Rehabilitation and Chronic Respiratory Diseases: Effects, Mechanisms, and Therapeutic Benefits.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong T,
Bai X,
Wei X,
Wang L,
Li F,
Shi H,
Shi Y</span><br />
<span class="medgenPMjournal">Int J Chron Obstruct Pulmon Dis</span>
2023;18:1251-1266.
Epub 2023 Jun 19
doi: 10.2147/COPD.S408325.
<span class="bold">PMID: </span><a href="/pubmed/37362621" target="_blank">37362621</a><a href="/pmc/articles/PMC10289097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36922031">Contemporary Concise Review 2022: Chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Calverley PMA,
Walker PP</span><br />
<span class="medgenPMjournal">Respirology</span>
2023 May;28(5):428-436.
Epub 2023 Mar 15
doi: 10.1111/resp.14489.
<span class="bold">PMID: </span><a href="/pubmed/36922031" target="_blank">36922031</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32800187">Epidemiology of Chronic Obstructive Pulmonary Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruvuna L,
Sood A</span><br />
<span class="medgenPMjournal">Clin Chest Med</span>
2020 Sep;41(3):315-327.
doi: 10.1016/j.ccm.2020.05.002.
<span class="bold">PMID: </span><a href="/pubmed/32800187" target="_blank">32800187</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26919673">Chronic Obstructive Pulmonary Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hattab Y,
Alhassan S,
Balaan M,
Lega M,
Singh AC</span><br />
<span class="medgenPMjournal">Crit Care Nurs Q</span>
2016 Apr-Jun;39(2):124-30.
doi: 10.1097/CNQ.0000000000000105.
<span class="bold">PMID: </span><a href="/pubmed/26919673" target="_blank">26919673</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (35733)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37362621">Exercise Rehabilitation and Chronic Respiratory Diseases: Effects, Mechanisms, and Therapeutic Benefits.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong T,
Bai X,
Wei X,
Wang L,
Li F,
Shi H,
Shi Y</span><br />
<span class="medgenPMjournal">Int J Chron Obstruct Pulmon Dis</span>
2023;18:1251-1266.
Epub 2023 Jun 19
doi: 10.2147/COPD.S408325.
<span class="bold">PMID: </span><a href="/pubmed/37362621" target="_blank">37362621</a><a href="/pmc/articles/PMC10289097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36922031">Contemporary Concise Review 2022: Chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Calverley PMA,
Walker PP</span><br />
<span class="medgenPMjournal">Respirology</span>
2023 May;28(5):428-436.
Epub 2023 Mar 15
doi: 10.1111/resp.14489.
<span class="bold">PMID: </span><a href="/pubmed/36922031" target="_blank">36922031</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32745458">Chronic Obstructive Pulmonary Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Labaki WW,
Rosenberg SR</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2020 Aug 4;173(3):ITC17-ITC32.
doi: 10.7326/AITC202008040.
<span class="bold">PMID: </span><a href="/pubmed/32745458" target="_blank">32745458</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30592446">Chronic Obstructive Pulmonary Disease (COPD).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lareau SC,
Fahy B,
Meek P,
Wang A</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2019 Jan 1;199(1):P1-P2.
doi: 10.1164/rccm.1991P1.
<span class="bold">PMID: </span><a href="/pubmed/30592446" target="_blank">30592446</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26919673">Chronic Obstructive Pulmonary Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hattab Y,
Alhassan S,
Balaan M,
Lega M,
Singh AC</span><br />
<span class="medgenPMjournal">Crit Care Nurs Q</span>
2016 Apr-Jun;39(2):124-30.
doi: 10.1097/CNQ.0000000000000105.
<span class="bold">PMID: </span><a href="/pubmed/26919673" target="_blank">26919673</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (22202)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34672872">Treatment Trials in Young Patients with Chronic Obstructive Pulmonary Disease and Pre-Chronic Obstructive Pulmonary Disease Patients: Time to Move Forward.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez FJ,
Agusti A,
Celli BR,
Han MK,
Allinson JP,
Bhatt SP,
Calverley P,
Chotirmall SH,
Chowdhury B,
Darken P,
Da Silva CA,
Donaldson G,
Dorinsky P,
Dransfield M,
Faner R,
Halpin DM,
Jones P,
Krishnan JA,
Locantore N,
Martinez FD,
Mullerova H,
Price D,
Rabe KF,
Reisner C,
Singh D,
Vestbo J,
Vogelmeier CF,
Wise RA,
Tal-Singer R,
Wedzicha JA</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2022 Feb 1;205(3):275-287.
doi: 10.1164/rccm.202107-1663SO.
<span class="bold">PMID: </span><a href="/pubmed/34672872" target="_blank">34672872</a><a href="/pmc/articles/PMC8886994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33560876">Sex differences in COPD management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Matera MG,
Ora J,
Calzetta L,
Rogliani P,
Cazzola M</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2021 Mar;14(3):323-332.
Epub 2021 Mar 12
doi: 10.1080/17512433.2021.1888713.
<span class="bold">PMID: </span><a href="/pubmed/33560876" target="_blank">33560876</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30371937">Antibiotics for exacerbations of chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vollenweider DJ,
Frei A,
Steurer-Stey CA,
Garcia-Aymerich J,
Puhan MA</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2018 Oct 29;10(10):CD010257.
doi: 10.1002/14651858.CD010257.pub2.
<span class="bold">PMID: </span><a href="/pubmed/30371937" target="_blank">30371937</a><a href="/pmc/articles/PMC6517133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29478908">Bronchiectasis: new therapies and new perspectives.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chalmers JD,
Chotirmall SH</span><br />
<span class="medgenPMjournal">Lancet Respir Med</span>
2018 Sep;6(9):715-726.
Epub 2018 Feb 23
doi: 10.1016/S2213-2600(18)30053-5.
<span class="bold">PMID: </span><a href="/pubmed/29478908" target="_blank">29478908</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23076942">Breathing exercises for chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holland AE,
Hill CJ,
Jones AY,
McDonald CF</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2012 Oct 17;10(10):CD008250.
doi: 10.1002/14651858.CD008250.pub2.
<span class="bold">PMID: </span><a href="/pubmed/23076942" target="_blank">23076942</a><a href="/pmc/articles/PMC11371308" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (25538)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38182279">Heightened long-term cardiovascular risks after exacerbation of chronic obstructive pulmonary disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkins NM,
Nordon C,
Rhodes K,
Talukdar M,
McMullen S,
Ekwaru P,
Pham T,
Randhawa AK,
Sin DD</span><br />
<span class="medgenPMjournal">Heart</span>
2024 Apr 25;110(10):702-709.
doi: 10.1136/heartjnl-2023-323487.
<span class="bold">PMID: </span><a href="/pubmed/38182279" target="_blank">38182279</a><a href="/pmc/articles/PMC11103306" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28862879">Chronic Obstructive Pulmonary Disease in Hispanics. A 9-Year Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Díaz AA,
Celli B,
Celedón JC</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2018 Jan 1;197(1):15-21.
doi: 10.1164/rccm.201708-1615PP.
<span class="bold">PMID: </span><a href="/pubmed/28862879" target="_blank">28862879</a><a href="/pmc/articles/PMC5765388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28822787">Global, regional, and national deaths, prevalence, disability-adjusted life years, and years lived with disability for chronic obstructive pulmonary disease and asthma, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2015 Chronic Respiratory Disease Collaborators</span><br />
<span class="medgenPMjournal">Lancet Respir Med</span>
2017 Sep;5(9):691-706.
Epub 2017 Aug 16
doi: 10.1016/S2213-2600(17)30293-X.
<span class="bold">PMID: </span><a href="/pubmed/28822787" target="_blank">28822787</a><a href="/pmc/articles/PMC5573769" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22684094">Long-term natural history of chronic obstructive pulmonary disease: severe exacerbations and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suissa S,
Dell'Aniello S,
Ernst P</span><br />
<span class="medgenPMjournal">Thorax</span>
2012 Nov;67(11):957-63.
Epub 2012 Jun 8
doi: 10.1136/thoraxjnl-2011-201518.
<span class="bold">PMID: </span><a href="/pubmed/22684094" target="_blank">22684094</a><a href="/pmc/articles/PMC3505864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15790866">Allergic rhinitis, asthma, airway biology, and chronic obstructive pulmonary disease in AJRCCM in 2004.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fabbri L,
Peters SP,
Pavord I,
Wenzel SE,
Lazarus SC,
Macnee W,
Lemaire F,
Abraham E</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2005 Apr 1;171(7):686-98.
doi: 10.1164/rccm.2412006.
<span class="bold">PMID: </span><a href="/pubmed/15790866" target="_blank">15790866</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (20371)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32664818">Early COPD: current evidence for diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fazleen A,
Wilkinson T</span><br />
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
2020 Jan-Dec;14:1753466620942128.
doi: 10.1177/1753466620942128.
<span class="bold">PMID: </span><a href="/pubmed/32664818" target="_blank">32664818</a><a href="/pmc/articles/PMC7394029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32178776">The Acute COPD Exacerbation Prediction Tool (ACCEPT): a modelling study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adibi A,
Sin DD,
Safari A,
Johnson KM,
Aaron SD,
FitzGerald JM,
Sadatsafavi M</span><br />
<span class="medgenPMjournal">Lancet Respir Med</span>
2020 Oct;8(10):1013-1021.
Epub 2020 Mar 13
doi: 10.1016/S2213-2600(19)30397-2.
<span class="bold">PMID: </span><a href="/pubmed/32178776" target="_blank">32178776</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23728873">Practical recommendations for exercise training in patients with COPD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gloeckl R,
Marinov B,
Pitta F</span><br />
<span class="medgenPMjournal">Eur Respir Rev</span>
2013 Jun 1;22(128):178-86.
doi: 10.1183/09059180.00000513.
<span class="bold">PMID: </span><a href="/pubmed/23728873" target="_blank">23728873</a><a href="/pmc/articles/PMC9487382" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19330553">Diffusing capacity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hegewald MJ</span><br />
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
2009 Dec;37(3):159-66.
Epub 2009 Mar 31
doi: 10.1007/s12016-009-8125-2.
<span class="bold">PMID: </span><a href="/pubmed/19330553" target="_blank">19330553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18216052">Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vestbo J,
Anderson W,
Coxson HO,
Crim C,
Dawber F,
Edwards L,
Hagan G,
Knobil K,
Lomas DA,
MacNee W,
Silverman EK,
Tal-Singer R;
ECLIPSE investigators</span><br />
<span class="medgenPMjournal">Eur Respir J</span>
2008 Apr;31(4):869-73.
Epub 2008 Jan 23
doi: 10.1183/09031936.00111707.
<span class="bold">PMID: </span><a href="/pubmed/18216052" target="_blank">18216052</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (24831)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38273271">Estimating the global prevalence of chronic obstructive pulmonary disease (COPD): a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al Wachami N,
Guennouni M,
Iderdar Y,
Boumendil K,
Arraji M,
Mourajid Y,
Bouchachi FZ,
Barkaoui M,
Louerdi ML,
Hilali A,
Chahboune M</span><br />
<span class="medgenPMjournal">BMC Public Health</span>
2024 Jan 25;24(1):297.
doi: 10.1186/s12889-024-17686-9.
<span class="bold">PMID: </span><a href="/pubmed/38273271" target="_blank">38273271</a><a href="/pmc/articles/PMC10811845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36528962">Readmission rate for acute exacerbation of chronic obstructive pulmonary disease: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruan H,
Zhang H,
Wang J,
Zhao H,
Han W,
Li J</span><br />
<span class="medgenPMjournal">Respir Med</span>
2023 Jan;206:107090.
Epub 2022 Dec 13
doi: 10.1016/j.rmed.2022.107090.
<span class="bold">PMID: </span><a href="/pubmed/36528962" target="_blank">36528962</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35897469">Nurse-Led Interventions in Chronic Obstructive Pulmonary Disease Patients: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aranburu-Imatz A,
López-Carrasco JC,
Moreno-Luque A,
Jiménez-Pastor JM,
Valverde-León MDR,
Rodríguez-Cortés FJ,
Arévalo-Buitrago P,
López-Soto PJ,
Morales-Cané I</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Jul 26;19(15)
doi: 10.3390/ijerph19159101.
<span class="bold">PMID: </span><a href="/pubmed/35897469" target="_blank">35897469</a><a href="/pmc/articles/PMC9368558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33253970">Managing malnutrition in COPD: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Keogh E,
Mark Williams E</span><br />
<span class="medgenPMjournal">Respir Med</span>
2021 Jan;176:106248.
Epub 2020 Nov 21
doi: 10.1016/j.rmed.2020.106248.
<span class="bold">PMID: </span><a href="/pubmed/33253970" target="_blank">33253970</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30919925">Global prevalence of chronic obstructive pulmonary disease: systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Varmaghani M,
Dehghani M,
Heidari E,
Sharifi F,
Moghaddam SS,
Farzadfar F</span><br />
<span class="medgenPMjournal">East Mediterr Health J</span>
2019 Mar 19;25(1):47-57.
doi: 10.26719/emhj.18.014.
<span class="bold">PMID: </span><a href="/pubmed/30919925" target="_blank">30919925</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chronic%20obstructive%20pulmonary%20disease%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 (2029)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0024117%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
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<li><a href="/gtr/tests?term=C0024117%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
<li><a href="/gtr/tests?term=C0024117%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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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=(%22chronic%20obstructive%20pulmonary%20disease%22%5Btiab%3A~0%5D)%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(%22Chronic%20obstructive%20pulmonary%20disease%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.nice.org.uk/guidance/ng202">NICE, 2021</a><div>UK NICE Guideline NG202, Obstructive sleep apnoea/hypopnoea syndrome and obesity hypoventilation syndrome in over 16s, 2021</div></li></ul></div>
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