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<meta name="keywords" content="C0034067, disease or syndrome, emphysema, emphysema of lung, emphysema, pulmonary, emphysemas, pulmonary, pulmonary emphysema, pulmonary emphysemas, 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="A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=18764
|
||
ConceptID=C0034067
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Emphysema</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18764</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:">C0034067</span></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>Pulmonary emphysema</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pulmonary emphysema (87433001); Emphysema of lung (87433001)</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:0002097">HP:0002097</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004849" target="_blank">MONDO:0004849</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">A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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=C0024117[DISCUI]&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&from_uid=9818" ref="ncbi_uid=9818">V</a></span></span><span class="TLline"><a href="/medgen/9818" ref="tree=GTR&ncbi_uid=9818&link_uid=9818" title="View MedGen record for 'Chronic pulmonary obstruction'">Chronic pulmonary obstruction</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=C0006267[DISCUI]&test_type=Clinical&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&from_uid=14234" ref="ncbi_uid=14234">V</a></span></span><span class="TLline"><a href="/medgen/14234" ref="tree=GTR&ncbi_uid=14234&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&ncbi_uid=573462&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]&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&from_uid=440868" ref="ncbi_uid=440868">V</a></span></span><span class="TLline"><a href="/medgen/440868" ref="tree=GTR&ncbi_uid=440868&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]&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&from_uid=414437" ref="ncbi_uid=414437">V</a></span></span><span class="TLline"><a href="/medgen/414437" ref="tree=GTR&ncbi_uid=414437&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]&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&from_uid=414351" ref="ncbi_uid=414351">V</a></span></span><span class="TLline"><a href="/medgen/414351" ref="tree=GTR&ncbi_uid=414351&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]&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&ncbi_uid=3084&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]&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&from_uid=376022" ref="ncbi_uid=376022">V</a></span></span><span class="TLline"><a href="/medgen/376022" ref="tree=GTR&ncbi_uid=376022&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&ncbi_uid=163897&link_uid=163897" title="View MedGen record for 'Diffuse panbronchiolitis'">Diffuse panbronchiolitis</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0034067[DISCUI]&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&from_uid=18764" ref="ncbi_uid=18764">V</a></span></span><span class="TLline">Emphysema</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&ncbi_uid=510136&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&ncbi_uid=120557&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&ncbi_uid=338765&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&ncbi_uid=101178&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&ncbi_uid=234586&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/868593" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system morphology">Abnormal respiratory system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892303" ref="tree=MeSH" title="MedGen record for Abnormality of the lung">Abnormality of the lung</a></span><ul><li><span class="matched_ds">Emphysema</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>
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<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="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_44287"><div><strong>Marfan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44287</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.">C0024796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44287">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_101814"><div><strong>T-lymphocyte deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101814</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.">C0152094</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/101814">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82790"><div><strong>Ehlers-Danlos syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82790</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.">C0268338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82790">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96594"><div><strong>Cutis laxa - Marfanoid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96594</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.">C0432335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96594">Condition Record</a></div></div>
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<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) Click for more information.">C1851718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338765">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383722"><div><strong>Keutel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383722</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.">C1855607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383722">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_346868"><div><strong>MHC class I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346868</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.">C1858266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/346868">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347170"><div><strong>Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347170</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.">C1859519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347170">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_436694"><div><strong>Sarcoidosis, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436694</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.">C2676468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/436694">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</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.">C2697310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_442566"><div><strong>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442566</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.">C2750804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/442566">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462470"><div><strong>Meier-Gorlin syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462470</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.">C3151120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462470">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_478169"><div><strong>Cutis laxa, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478169</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.">C3276539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/478169">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482428"><div><strong>Cutis laxa, autosomal recessive, type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482428</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.">C3280798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482428">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766676"><div><strong>Loeys-Dietz syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766676</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.">C3553762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766676">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_905079"><div><strong>Meier-Gorlin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905079</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.">C4225188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/905079">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1641240"><div><strong>Meier-Gorlin syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641240</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.">C4552001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648396"><div><strong>Epidermodysplasia verruciformis, susceptibility to, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648396</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.">C4749042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Immunodeficiency-129 (IMD129) is an autosomal recessive immunologic disorder characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life. Some affected individuals have increased susceptibility to certain human papillomaviruses (HPV), resulting in warts and skin lesions that do not respond to treatment, as well as opportunistic infections. Immunologic studies usually show decreased CD4+ T cells, increased effector memory T cells, and decreased naive T cells, suggesting a defect in T-cell development. Some individuals may also have decreased NK cells and B cells, as well as hypogammaglobulinemia. The phenotype is variable (Crequer et al., 2012; Zhou et al., 2024).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648396">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711127"><div><strong>Fanconi renotubular syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711127</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.">C5394473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</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.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794165"><div><strong>VISS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794165</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.">C5561955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794165">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841121"><div><strong>Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841121</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.">C5830485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841121">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1846304"><div><strong>Cutis laxa, autosomal recessive, type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846304</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.">C5848058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846304">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa - Marfanoid syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_478169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal dominant 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal recessive, type 1A</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa, autosomal recessive, type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, type 4</a></div>
|
||
<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_1648396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermodysplasia verruciformis, susceptibility to, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keutel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loeys-Dietz syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marfan syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MHC class I deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_101814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T-lymphocyte deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794165" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VISS syndrome</a></div></span></div></div>
|
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</div>
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||
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||
<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/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,
|
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Papi A,
|
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Contoli M,
|
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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 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/30955513">Chronic Obstructive Pulmonary Disease: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duffy SP,
|
||
Criner GJ</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2019 May;103(3):453-461.
|
||
Epub 2019 Mar 14
|
||
doi: 10.1016/j.mcna.2018.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30955513" target="_blank">30955513</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22emphysema%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 (647)</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/32671774">Chronic Obstructive Pulmonary Disease and Autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lv X,
|
||
Li K,
|
||
Hu Z</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2020;1207:559-567.
|
||
doi: 10.1007/978-981-15-4272-5_39.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32671774" target="_blank">32671774</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31118601">Congenital lobar emphysema: diagnosis and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demir OF,
|
||
Hangul M,
|
||
Kose M</span><br />
|
||
<span class="medgenPMjournal">Int J Chron Obstruct Pulmon Dis</span>
|
||
2019;14:921-928.
|
||
Epub 2019 May 1
|
||
doi: 10.2147/COPD.S170581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31118601" target="_blank">31118601</a><a href="/pmc/articles/PMC6507121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30761929">Emphysema: looking beyond alpha-1 antitrypsin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janssen R,
|
||
Piscaer I,
|
||
Franssen FME,
|
||
Wouters EFM</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2019 Apr;13(4):381-397.
|
||
Epub 2019 Feb 22
|
||
doi: 10.1080/17476348.2019.1580575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30761929" target="_blank">30761929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26879696">Clinical review: Endobronchial valve treatment for emphysema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jarad N</span><br />
|
||
<span class="medgenPMjournal">Chron Respir Dis</span>
|
||
2016 May;13(2):173-88.
|
||
Epub 2016 Feb 15
|
||
doi: 10.1177/1479972316631139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26879696" target="_blank">26879696</a><a href="/pmc/articles/PMC5734593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16500460">Bilateral pneumoparotid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grainger J,
|
||
Saravanappa N,
|
||
Courteney-Harris RG</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2006 Mar;134(3):531-2.
|
||
doi: 10.1016/j.otohns.2005.03.079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16500460" target="_blank">16500460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (7637)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39332856">Pneumomediastinum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grewal J,
|
||
Gillaspie EA</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2024 Nov;34(4):309-319.
|
||
Epub 2024 Jul 26
|
||
doi: 10.1016/j.thorsurg.2024.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39332856" target="_blank">39332856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38412909">Orbital Emphysema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto E,
|
||
Nagasaki K</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2024 Jun;137(6):e105-e106.
|
||
Epub 2024 Feb 25
|
||
doi: 10.1016/j.amjmed.2024.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38412909" target="_blank">38412909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36912555">Orbital Emphysema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee NJ,
|
||
Chiu PW</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Mar 16;388(11):e35.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1056/NEJMicm2209451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36912555" target="_blank">36912555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22183290">Pneumoparotitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zuchi DF,
|
||
Silveira PC,
|
||
Cardoso Cde O,
|
||
Almeida WM,
|
||
Feldman CJ</span><br />
|
||
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
|
||
2011 Nov-Dec;77(6):806.
|
||
doi: 10.1590/S1808-86942011000600020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22183290" target="_blank">22183290</a><a href="/pmc/articles/PMC9443886" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14090644">BRONCHITIS AND EMPHYSEMA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">FLETCHER CM</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
1963 Dec;35:1963:1-48.
|
||
doi: 10.1016/s0011-5029(63)80002-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14090644" target="_blank">14090644</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (8035)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36796833">Lung volume reduction surgery versus endobronchial valves: a randomised controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buttery SC,
|
||
Banya W,
|
||
Bilancia R,
|
||
Boyd E,
|
||
Buckley J,
|
||
Greening NJ,
|
||
Housley K,
|
||
Jordan S,
|
||
Kemp SV,
|
||
Kirk AJB,
|
||
Latimer L,
|
||
Lau K,
|
||
Lawson R,
|
||
Lewis A,
|
||
Moxham J,
|
||
Rathinam S,
|
||
Steiner MC,
|
||
Tenconi S,
|
||
Waller D,
|
||
Shah PL,
|
||
Hopkinson NS;
|
||
CELEB investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2023 Apr;61(4)
|
||
Epub 2023 Apr 27
|
||
doi: 10.1183/13993003.02063-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36796833" target="_blank">36796833</a><a href="/pmc/articles/PMC10133584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33180550">Mucus Plugs and Emphysema in the Pathophysiology of Airflow Obstruction and Hypoxemia in Smokers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunican EM,
|
||
Elicker BM,
|
||
Henry T,
|
||
Gierada DS,
|
||
Schiebler ML,
|
||
Anderson W,
|
||
Barjaktarevic I,
|
||
Barr RG,
|
||
Bleecker ER,
|
||
Boucher RC,
|
||
Bowler R,
|
||
Christenson SA,
|
||
Comellas A,
|
||
Cooper CB,
|
||
Couper D,
|
||
Criner GJ,
|
||
Dransfield M,
|
||
Doerschuk CM,
|
||
Drummond MB,
|
||
Hansel NN,
|
||
Han MK,
|
||
Hastie AT,
|
||
Hoffman EA,
|
||
Krishnan JA,
|
||
Lazarus SC,
|
||
Martinez FJ,
|
||
McCulloch CE,
|
||
O'Neal WK,
|
||
Ortega VE,
|
||
Paine R 3rd,
|
||
Peters S,
|
||
Schroeder JD,
|
||
Woodruff PG,
|
||
Fahy JV</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2021 Apr 15;203(8):957-968.
|
||
doi: 10.1164/rccm.202006-2248OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33180550" target="_blank">33180550</a><a href="/pmc/articles/PMC8048745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29191952">European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α(1)-antitrypsin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miravitlles M,
|
||
Dirksen A,
|
||
Ferrarotti I,
|
||
Koblizek V,
|
||
Lange P,
|
||
Mahadeva R,
|
||
McElvaney NG,
|
||
Parr D,
|
||
Piitulainen E,
|
||
Roche N,
|
||
Stolk J,
|
||
Thabut G,
|
||
Turner A,
|
||
Vogelmeier C,
|
||
Stockley RA</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2017 Nov;50(5)
|
||
Epub 2017 Nov 30
|
||
doi: 10.1183/13993003.00610-2017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29191952" target="_blank">29191952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27693408">Lung volume reduction for emphysema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah PL,
|
||
Herth FJ,
|
||
van Geffen WH,
|
||
Deslee G,
|
||
Slebos DJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2017 Feb;5(2):147-156.
|
||
Epub 2016 Sep 29
|
||
doi: 10.1016/S2213-2600(16)30221-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27693408" target="_blank">27693408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24532124">Umeclidinium/Vilanterol: first global approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott LJ,
|
||
Hair P</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2014 Mar;74(3):389-95.
|
||
doi: 10.1007/s40265-014-0186-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24532124" target="_blank">24532124</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (7059)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670046">Emphysematous Hepatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bofill A,
|
||
Marco F</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Oct 21;385(17):e58.
|
||
doi: 10.1056/NEJMicm2108779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670046" target="_blank">34670046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24957346">Clinical management of the neonatal pneumomediastinum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corsini I,
|
||
Dani C</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2014 Jun 20;85(1):39-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24957346" target="_blank">24957346</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23307755">Emphysematous pancreatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okamoto H,
|
||
Kuriyama A</span><br />
|
||
<span class="medgenPMjournal">Emerg Med J</span>
|
||
2013 May;30(5):396.
|
||
Epub 2013 Jan 10
|
||
doi: 10.1136/emermed-2012-202214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23307755" target="_blank">23307755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19576294">Grievous disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wehbe E,
|
||
Abou Antoun S</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2010 Jan;8(1):e3-4.
|
||
Epub 2009 Jul 1
|
||
doi: 10.1016/j.cgh.2009.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19576294" target="_blank">19576294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8633522">Emphysematous gastritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sud A,
|
||
Lehl SS,
|
||
Bhasin DK,
|
||
Deodhar SD</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1996 Mar;91(3):604-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8633522" target="_blank">8633522</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (4971)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33180550">Mucus Plugs and Emphysema in the Pathophysiology of Airflow Obstruction and Hypoxemia in Smokers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunican EM,
|
||
Elicker BM,
|
||
Henry T,
|
||
Gierada DS,
|
||
Schiebler ML,
|
||
Anderson W,
|
||
Barjaktarevic I,
|
||
Barr RG,
|
||
Bleecker ER,
|
||
Boucher RC,
|
||
Bowler R,
|
||
Christenson SA,
|
||
Comellas A,
|
||
Cooper CB,
|
||
Couper D,
|
||
Criner GJ,
|
||
Dransfield M,
|
||
Doerschuk CM,
|
||
Drummond MB,
|
||
Hansel NN,
|
||
Han MK,
|
||
Hastie AT,
|
||
Hoffman EA,
|
||
Krishnan JA,
|
||
Lazarus SC,
|
||
Martinez FJ,
|
||
McCulloch CE,
|
||
O'Neal WK,
|
||
Ortega VE,
|
||
Paine R 3rd,
|
||
Peters S,
|
||
Schroeder JD,
|
||
Woodruff PG,
|
||
Fahy JV</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2021 Apr 15;203(8):957-968.
|
||
doi: 10.1164/rccm.202006-2248OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33180550" target="_blank">33180550</a><a href="/pmc/articles/PMC8048745" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/31118601">Congenital lobar emphysema: diagnosis and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demir OF,
|
||
Hangul M,
|
||
Kose M</span><br />
|
||
<span class="medgenPMjournal">Int J Chron Obstruct Pulmon Dis</span>
|
||
2019;14:921-928.
|
||
Epub 2019 May 1
|
||
doi: 10.2147/COPD.S170581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31118601" target="_blank">31118601</a><a href="/pmc/articles/PMC6507121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24310110">Lessons from ECLIPSE: a review of COPD biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faner R,
|
||
Tal-Singer R,
|
||
Riley JH,
|
||
Celli B,
|
||
Vestbo J,
|
||
MacNee W,
|
||
Bakke P,
|
||
Calverley PM,
|
||
Coxson H,
|
||
Crim C,
|
||
Edwards LD,
|
||
Locantore N,
|
||
Lomas DA,
|
||
Miller BE,
|
||
Rennard SI,
|
||
Wouters EF,
|
||
Yates JC,
|
||
Silverman EK,
|
||
Agusti A;
|
||
ECLIPSE Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2014 Jul;69(7):666-72.
|
||
Epub 2013 Dec 5
|
||
doi: 10.1136/thoraxjnl-2013-204778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24310110" target="_blank">24310110</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22553261">What to do when a smoker's CT scan is "normal"?: Implications for lung cancer screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zurawska JH,
|
||
Jen R,
|
||
Lam S,
|
||
Coxson HO,
|
||
Leipsic J,
|
||
Sin DD</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2012 May;141(5):1147-1152.
|
||
doi: 10.1378/chest.11-1863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22553261" target="_blank">22553261</a><a href="/pmc/articles/PMC3415147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (4962)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36801105">Telemedicine in the management of chronic obstructive pulmonary disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vila M,
|
||
Rosa Oliveira V,
|
||
Agustí A</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2023 Apr 21;160(8):355-363.
|
||
Epub 2023 Feb 16
|
||
doi: 10.1016/j.medcli.2023.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36801105" target="_blank">36801105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35103928">A systematic review and meta-analysis of risk factors and treatment choices in emphysematous pyelonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desai R,
|
||
Batura D</span><br />
|
||
<span class="medgenPMjournal">Int Urol Nephrol</span>
|
||
2022 Apr;54(4):717-736.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1007/s11255-022-03131-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35103928" target="_blank">35103928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33448349">Prophylactic antibiotics for adults with chronic obstructive pulmonary disease: a network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janjua S,
|
||
Mathioudakis AG,
|
||
Fortescue R,
|
||
Walker RA,
|
||
Sharif S,
|
||
Threapleton CJ,
|
||
Dias S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Jan 15;1(1):CD013198.
|
||
doi: 10.1002/14651858.CD013198.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33448349" target="_blank">33448349</a><a href="/pmc/articles/PMC8092479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32721652">Risk-Based lung cancer screening: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Toumazis I,
|
||
Bastani M,
|
||
Han SS,
|
||
Plevritis SK</span><br />
|
||
<span class="medgenPMjournal">Lung Cancer</span>
|
||
2020 Sep;147:154-186.
|
||
Epub 2020 Jul 12
|
||
doi: 10.1016/j.lungcan.2020.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32721652" target="_blank">32721652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32128795">Probiotics for induction of remission in ulcerative colitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaur L,
|
||
Gordon M,
|
||
Baines PA,
|
||
Iheozor-Ejiofor Z,
|
||
Sinopoulou V,
|
||
Akobeng AK</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Mar 4;3(3):CD005573.
|
||
doi: 10.1002/14651858.CD005573.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32128795" target="_blank">32128795</a><a href="/pmc/articles/PMC7059959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Emphysema%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 (180)</a></div></div>
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0034067%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0034067%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0034067%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Emphysema" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22emphysema%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(%22Emphysema%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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<a href="/pubmed/clinical?term=Emphysema" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Emphysema%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0034067[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0034067[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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