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<meta name="keywords" content="C0032227, effusion, pleural, effusions, pleural, fluid around lungs, pathologic function, pleural effusion, pleural effusions, plural effusion, 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="The presence of an excessive amount of fluid in the pleural cavity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=10805
ConceptID=C0032227
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pleural effusion</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10805</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.">C0032227</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Effusion, Pleural; Effusions, Pleural; Pleural Effusion; Pleural Effusions</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Pleural effusion (60046008)</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:0002202">HP:0002202</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">The presence of an excessive amount of fluid in the pleural cavity. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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=C0032227[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=10805">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=10805" ref="ncbi_uid=10805">V</a></span></span><span class="TLline">Pleural effusion</span></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="TLline"><a href="/medgen/871243" ref="tree=MeSH" title="MedGen record for Abnormal pleura morphology">Abnormal pleura morphology</a></span><ul><li><span class="matched_ds">Pleural effusion</span><ul><li><span class="TLline"><a href="/medgen/40305" ref="tree=MeSH" title="MedGen record for Chylothorax">Chylothorax</a></span><ul><li><span class="TLline"><a href="/medgen/476087" ref="tree=MeSH" title="MedGen record for Acquired chylothorax">Acquired chylothorax</a></span><ul><li><span class="TLline"><a href="/medgen/573483" ref="tree=MeSH" title="MedGen record for Traumatic chylothorax">Traumatic chylothorax</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87398" ref="tree=MeSH" title="MedGen record for Congenital chylothorax">Congenital chylothorax</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/854354" ref="tree=MeSH" title="MedGen record for Exudative pleural effusion">Exudative pleural effusion</a></span></li><li><span class="TLline"><a href="/medgen/1708432" ref="tree=MeSH" title="MedGen record for Large Pleural Effusion">Large Pleural Effusion</a></span><ul><li><span class="TLline"><a href="/medgen/1716496" ref="tree=MeSH" title="MedGen record for Recurrent Large Pleural Effusion">Recurrent Large Pleural Effusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86982" ref="tree=MeSH" title="MedGen record for Pleural effusion due to neoplastic disease">Pleural effusion due to neoplastic disease</a></span></li><li><span class="TLline"><a href="/medgen/4928" ref="tree=MeSH" title="MedGen record for Pleural empyema">Pleural empyema</a></span><ul><li><span class="TLline"><a href="/medgen/4929" ref="tree=MeSH" title="MedGen record for Tuberculous empyema">Tuberculous empyema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42535" ref="tree=MeSH" title="MedGen record for Transudative pleural effusion">Transudative pleural effusion</a></span></li></ul></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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_5340"><div><strong>Glycogen storage disease, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5340</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.">C0017921</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5340">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_45811"><div><strong>Familial Mediterranean fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45811</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.">C0031069</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to kidney failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45811">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_113138"><div><strong>Malignant atrophic papulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113138</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.">C0221011</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113138">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_116056"><div><strong>Hereditary pancreatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116056</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.">C0238339</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PRSS1-related hereditary pancreatitis (HP) is characterized by episodes of acute pancreatitis (AP) and recurrent acute pancreatitis (RAP: &gt;1 episode of AP), with frequent progression to chronic pancreatitis (CP). Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116056">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_155629"><div><strong>Action myoclonus-renal failure syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155629</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.">C0751779</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">SCARB2-related action myoclonus renal failure syndrome (SCARB2-AMRF) comprises a continuum of two major (and ultimately fatal) manifestations: progressive myoclonic epilepsy (PME) and renal involvement that is apparently due to steroid-resistant nephrotic syndrome (SRNS). The neurologic and renal manifestations progress independently. In some instances, renal involvement is not observed; thus, PME without renal manifestations caused by biallelic SCARB2 pathogenic variants is considered to be one end of the spectrum of SCARB2-AMRF. All individuals reported to date developed neurologic findings; in some instances renal manifestations predated neurologic involvement by decades. The disease progresses relentlessly, with neurologic deterioration (especially increasing severity of myoclonus) and/or end-stage kidney disease (ESKD) leading to death within seven to 15 years after onset.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155629">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336165"><div><strong>Granulomatous disease, chronic, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336165</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.">C1844376</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336165">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340355"><div><strong>Congenital pulmonary lymphangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340355</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.">C1849554</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340355">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337919"><div><strong>Lethal congenital glycogen storage disease of heart</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337919</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.">C1849813</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337919">Condition Record</a></div></div>
<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)&#10;Click for more information.">C2676468</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436694">Condition Record</a></div></div>
<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)&#10;Click for more information.">C2697310</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_755478"><div><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>755478</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.">C2960310</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/755478">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_765548"><div><strong>Lymphoproliferative syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765548</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.">C3552634</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).&#13; For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/765548">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_813897"><div><strong>Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813897</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.">C3807567</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/813897">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815563"><div><strong>Noonan syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815563</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.">C3809233</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815563">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_860487"><div><strong>Hennekam lymphangiectasia-lymphedema syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860487</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.">C4012050</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).&#13; Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome&#13; See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/860487">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_900688"><div><strong>Complex lethal osteochondrodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900688</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.">C4225162</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/900688">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_908120"><div><strong>Lymphatic malformation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908120</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.">C4225184</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).&#13; For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/908120">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_902892"><div><strong>Noonan syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902892</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.">C4225280</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/902892">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_899946"><div><strong>Singleton-Merten syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899946</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.">C4225427</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015).&#13; Genetic Heterogeneity of Singleton-Merten Syndrome&#13; An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/899946">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934596"><div><strong>Lymphatic malformation 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934596</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.">C4310629</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).&#13; For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934596">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934714"><div><strong>Cholestasis, progressive familial intrahepatic, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934714</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.">C4310747</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934714">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1373355"><div><strong>Pseudo-TORCH syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373355</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.">C4479376</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pseudo-TORCH syndrome-2 (PTORCH2) is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).&#13; For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1373355">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1636833"><div><strong>Focal segmental glomerulosclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636833</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.">C4551527</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).&#13; D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.&#13; Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.&#13; Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome&#13; Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); FSGS9 (616220), caused by mutation in the CRB2 gene (609720); and FSGS10 (256020), caused by mutation in the LMX1B gene (602575).&#13; See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); and NPHS21 (618594) caused by mutation in the AVIL gene (613397).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1636833">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1634304"><div><strong>Alkuraya-Kucinskas syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634304</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.">C4693347</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1634304">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648311"><div><strong>Diarrhea 10, protein-losing enteropathy type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648311</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.">C4748579</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018).&#13; For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648311">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1664257"><div><strong>Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1664257</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.">C4749921</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-10 (COXPD10) is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by Ghezzi et al., 2012).&#13; For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1664257">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684708"><div><strong>Pontocerebellar hypoplasia, type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684708</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.">C5231425</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684708">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684767"><div><strong>Lymphatic malformation 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684767</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.">C5231496</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018).&#13; For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684767">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1710326"><div><strong>Granulomatous disease, chronic, autosomal recessive, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710326</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.">C5394542</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1710326">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794280"><div><strong>Immunodeficiency 87 and autoimmunity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794280</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.">C5562070</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794280">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794283"><div><strong>Immunodeficiency 91 and hyperinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794283</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.">C5562073</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794283">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824079"><div><strong>Respiratory infections, recurrent, and failure to thrive with or without diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824079</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.">C5774306</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824079">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841137"><div><strong>Congenital myopathy 22B, severe fetal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841137</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.">C5830501</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Severe fetal congenital myopathy-22B (CMYO22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016).&#13; For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841137">Condition Record</a></div></div>
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</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/35576996">Malignant Pleural Effusion: Presentation, Diagnosis, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gayen S</span><br />
<span class="medgenPMjournal">Am J Med</span>
2022 Oct;135(10):1188-1192.
Epub 2022 May 14
doi: 10.1016/j.amjmed.2022.04.017.
<span class="bold">PMID: </span><a href="/pubmed/35576996" target="_blank">35576996</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31315808">Pleural Effusion in Adults-Etiology, Diagnosis, and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jany B,
Welte T</span><br />
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
2019 May 24;116(21):377-386.
doi: 10.3238/arztebl.2019.0377.
<span class="bold">PMID: </span><a href="/pubmed/31315808" target="_blank">31315808</a><a href="/pmc/articles/PMC6647819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31012139">POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dispenzieri A</span><br />
<span class="medgenPMjournal">Am J Hematol</span>
2019 Jul;94(7):812-827.
Epub 2019 May 23
doi: 10.1002/ajh.25495.
<span class="bold">PMID: </span><a href="/pubmed/31012139" target="_blank">31012139</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pleural%20effusion%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 (896)</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/34896966">Optimizing the management of complicated pleural effusion: From intrapleural agents to surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sorino C,
Mondoni M,
Lococo F,
Marchetti G,
Feller-Kopman D</span><br />
<span class="medgenPMjournal">Respir Med</span>
2022 Jan;191:106706.
Epub 2021 Nov 26
doi: 10.1016/j.rmed.2021.106706.
<span class="bold">PMID: </span><a href="/pubmed/34896966" target="_blank">34896966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25820035">Management of Parapneumonic Pleural Effusion in Adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreiro L,
San José ME,
Valdés L</span><br />
<span class="medgenPMjournal">Arch Bronconeumol</span>
2015 Dec;51(12):637-46.
Epub 2015 Mar 26
doi: 10.1016/j.arbres.2015.01.009.
<span class="bold">PMID: </span><a href="/pubmed/25820035" target="_blank">25820035</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20696692">Investigation of a unilateral pleural effusion in adults: British Thoracic Society Pleural Disease Guideline 2010.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hooper C,
Lee YC,
Maskell N;
BTS Pleural Guideline Group</span><br />
<span class="medgenPMjournal">Thorax</span>
2010 Aug;65 Suppl 2:ii4-17.
doi: 10.1136/thx.2010.136978.
<span class="bold">PMID: </span><a href="/pubmed/20696692" target="_blank">20696692</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20696691">Management of a malignant pleural effusion: British Thoracic Society Pleural Disease Guideline 2010.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts ME,
Neville E,
Berrisford RG,
Antunes G,
Ali NJ;
BTS Pleural Disease Guideline Group</span><br />
<span class="medgenPMjournal">Thorax</span>
2010 Aug;65 Suppl 2:ii32-40.
doi: 10.1136/thx.2010.136994.
<span class="bold">PMID: </span><a href="/pubmed/20696691" target="_blank">20696691</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7972981">Peripartum pleural effusion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">el-Naggar T,
Abd-el-Maeboud KH,
Abdallah MY,
el-Ghetany S,
Tohamy SM</span><br />
<span class="medgenPMjournal">Respir Med</span>
1994 Aug;88(7):541-2.
doi: 10.1016/s0954-6111(05)80339-7.
<span class="bold">PMID: </span><a href="/pubmed/7972981" target="_blank">7972981</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (7917)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38243259">Malignant pleural effusion: current understanding and therapeutic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gonnelli F,
Hassan W,
Bonifazi M,
Pinelli V,
Bedawi EO,
Porcel JM,
Rahman NM,
Mei F</span><br />
<span class="medgenPMjournal">Respir Res</span>
2024 Jan 19;25(1):47.
doi: 10.1186/s12931-024-02684-7.
<span class="bold">PMID: </span><a href="/pubmed/38243259" target="_blank">38243259</a><a href="/pmc/articles/PMC10797757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35576996">Malignant Pleural Effusion: Presentation, Diagnosis, and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gayen S</span><br />
<span class="medgenPMjournal">Am J Med</span>
2022 Oct;135(10):1188-1192.
Epub 2022 May 14
doi: 10.1016/j.amjmed.2022.04.017.
<span class="bold">PMID: </span><a href="/pubmed/35576996" target="_blank">35576996</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31315808">Pleural Effusion in Adults-Etiology, Diagnosis, and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jany B,
Welte T</span><br />
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
2019 May 24;116(21):377-386.
doi: 10.3238/arztebl.2019.0377.
<span class="bold">PMID: </span><a href="/pubmed/31315808" target="_blank">31315808</a><a href="/pmc/articles/PMC6647819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29530870">Evaluation of the patient with pleural effusion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Beaudoin S,
Gonzalez AV</span><br />
<span class="medgenPMjournal">CMAJ</span>
2018 Mar 12;190(10):E291-E295.
doi: 10.1503/cmaj.170420.
<span class="bold">PMID: </span><a href="/pubmed/29530870" target="_blank">29530870</a><a href="/pmc/articles/PMC5849448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22210933">Pleural effusion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Muzumdar H</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2012 Jan;33(1):45-7.
doi: 10.1542/pir.33-1-45.
<span class="bold">PMID: </span><a href="/pubmed/22210933" target="_blank">22210933</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (12569)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37820359">Early Video-assisted Thoracoscopic Surgery or Intrapleural Enzyme Therapy in Pleural Infection: A Feasibility Randomized Controlled Trial. The Third Multicenter Intrapleural Sepsis Trial-MIST-3.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bedawi EO,
Stavroulias D,
Hedley E,
Blyth KG,
Kirk A,
De Fonseka D,
Edwards JG,
Internullo E,
Corcoran JP,
Marchbank A,
Panchal R,
Caruana E,
Kadwani O,
Okiror L,
Saba T,
Purohit M,
Mercer RM,
Taberham R,
Kanellakis N,
Condliffe AM,
Lewis LG,
Addala DN,
Asciak R,
Banka R,
George V,
Hassan M,
McCracken D,
Sundaralingam A,
Wrightson JM,
Dobson M,
West A,
Barnes G,
Harvey J,
Slade M,
Chester-Jones M,
Dutton S,
Miller RF,
Maskell NA,
Belcher E,
Rahman NM</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2023 Dec 15;208(12):1305-1315.
doi: 10.1164/rccm.202305-0854OC.
<span class="bold">PMID: </span><a href="/pubmed/37820359" target="_blank">37820359</a><a href="/pmc/articles/PMC10765402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31684683">Intra-pleural fibrinolytic therapy versus placebo, or a different fibrinolytic agent, in the treatment of adult parapneumonic effusions and empyema.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Altmann ES,
Crossingham I,
Wilson S,
Davies HR</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2019 Oct 30;2019(10)
doi: 10.1002/14651858.CD002312.pub4.
<span class="bold">PMID: </span><a href="/pubmed/31684683" target="_blank">31684683</a><a href="/pmc/articles/PMC6819355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30272503">Management of Malignant Pleural Effusions. An Official ATS/STS/STR Clinical Practice Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Feller-Kopman DJ,
Reddy CB,
DeCamp MM,
Diekemper RL,
Gould MK,
Henry T,
Iyer NP,
Lee YCG,
Lewis SZ,
Maskell NA,
Rahman NM,
Sterman DH,
Wahidi MM,
Balekian AA</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2018 Oct 1;198(7):839-849.
doi: 10.1164/rccm.201807-1415ST.
<span class="bold">PMID: </span><a href="/pubmed/30272503" target="_blank">30272503</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21830966">Intrapleural use of tissue plasminogen activator and DNase in pleural infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman NM,
Maskell NA,
West A,
Teoh R,
Arnold A,
Mackinlay C,
Peckham D,
Davies CW,
Ali N,
Kinnear W,
Bentley A,
Kahan BC,
Wrightson JM,
Davies HE,
Hooper CE,
Lee YC,
Hedley EL,
Crosthwaite N,
Choo L,
Helm EJ,
Gleeson FV,
Nunn AJ,
Davies RJ</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2011 Aug 11;365(6):518-26.
doi: 10.1056/NEJMoa1012740.
<span class="bold">PMID: </span><a href="/pubmed/21830966" target="_blank">21830966</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21362716">Diagnosis of pleural effusion: a systematic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGrath EE,
Anderson PB</span><br />
<span class="medgenPMjournal">Am J Crit Care</span>
2011 Mar;20(2):119-27; quiz 128.
doi: 10.4037/ajcc2011685.
<span class="bold">PMID: </span><a href="/pubmed/21362716" target="_blank">21362716</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (7400)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33662285">High-dose versus standard-dose twice-daily thoracic radiotherapy for patients with limited stage small-cell lung cancer: an open-label, randomised, phase 2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grønberg BH,
Killingberg KT,
Fløtten Ø,
Brustugun OT,
Hornslien K,
Madebo T,
Langer SW,
Schytte T,
Nyman J,
Risum S,
Tsakonas G,
Engleson J,
Halvorsen TO</span><br />
<span class="medgenPMjournal">Lancet Oncol</span>
2021 Mar;22(3):321-331.
doi: 10.1016/S1470-2045(20)30742-7.
<span class="bold">PMID: </span><a href="/pubmed/33662285" target="_blank">33662285</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22925586">Pleural effusion and pseudocyst.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gulati D,
Khanna G,
Mullen KD</span><br />
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
2013 May;11(5):A24.
Epub 2012 Aug 24
doi: 10.1016/j.cgh.2012.08.024.
<span class="bold">PMID: </span><a href="/pubmed/22925586" target="_blank">22925586</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21925052">Atypical tuberculous pleural effusions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jolobe OM</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2011 Oct;22(5):456-9.
Epub 2011 Apr 17
doi: 10.1016/j.ejim.2011.03.011.
<span class="bold">PMID: </span><a href="/pubmed/21925052" target="_blank">21925052</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10501310">Pneumococcal pneumonia: epidemiology and clinical features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marrie TJ</span><br />
<span class="medgenPMjournal">Semin Respir Infect</span>
1999 Sep;14(3):227-36.
<span class="bold">PMID: </span><a href="/pubmed/10501310" target="_blank">10501310</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10201053">Tuberculous empyema.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bai KJ,
Wu IH,
Yu MC,
Chiang IH,
Chiang CY,
Lin TP,
Lee YC,
Luh KT</span><br />
<span class="medgenPMjournal">Respirology</span>
1998 Dec;3(4):261-6.
doi: 10.1111/j.1440-1843.1998.tb00132.x.
<span class="bold">PMID: </span><a href="/pubmed/10201053" target="_blank">10201053</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (6175)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/30409330">Lung Ultrasound for the Cardiologist.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Picano E,
Scali MC,
Ciampi Q,
Lichtenstein D</span><br />
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
2018 Nov;11(11):1692-1705.
doi: 10.1016/j.jcmg.2018.06.023.
<span class="bold">PMID: </span><a href="/pubmed/30409330" target="_blank">30409330</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29311408">Hepatic Hydrothorax.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lv Y,
Han G,
Fan D</span><br />
<span class="medgenPMjournal">Ann Hepatol</span>
2018 January-February;17(1):33-46.
doi: 10.5604/01.3001.0010.7533.
<span class="bold">PMID: </span><a href="/pubmed/29311408" target="_blank">29311408</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27997741">Advances in pleuroscopy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anevlavis S,
Froudarakis ME</span><br />
<span class="medgenPMjournal">Clin Respir J</span>
2018 Mar;12(3):839-847.
Epub 2017 Jan 11
doi: 10.1111/crj.12597.
<span class="bold">PMID: </span><a href="/pubmed/27997741" target="_blank">27997741</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27993323">Lymphangiography for Thoracic Duct Interventions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stecker MS,
Fan CM</span><br />
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
2016 Dec;19(4):277-285.
Epub 2016 Oct 8
doi: 10.1053/j.tvir.2016.10.010.
<span class="bold">PMID: </span><a href="/pubmed/27993323" target="_blank">27993323</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17224319">Pleural tuberculosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lazarus AA,
McKay S,
Gilbert R</span><br />
<span class="medgenPMjournal">Dis Mon</span>
2007 Jan;53(1):16-21.
doi: 10.1016/j.disamonth.2006.10.002.
<span class="bold">PMID: </span><a href="/pubmed/17224319" target="_blank">17224319</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (5061)</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/34515211">Congenital Chylothorax of the Newborn: A Systematic Analysis of Published Cases between 1990 and 2018.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Resch B,
Sever Yildiz G,
Reiterer F</span><br />
<span class="medgenPMjournal">Respiration</span>
2022;101(1):84-96.
Epub 2021 Sep 1
doi: 10.1159/000518217.
<span class="bold">PMID: </span><a href="/pubmed/34515211" target="_blank">34515211</a><a href="/pmc/articles/PMC8820433" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34627388">Clinical predictors of severe dengue: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsheten T,
Clements ACA,
Gray DJ,
Adhikary RK,
Furuya-Kanamori L,
Wangdi K</span><br />
<span class="medgenPMjournal">Infect Dis Poverty</span>
2021 Oct 9;10(1):123.
doi: 10.1186/s40249-021-00908-2.
<span class="bold">PMID: </span><a href="/pubmed/34627388" target="_blank">34627388</a><a href="/pmc/articles/PMC8501593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31779502">Pulmonary complications of acute pancreatitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Iyer H,
Elhence A,
Mittal S,
Madan K,
Garg PK</span><br />
<span class="medgenPMjournal">Expert Rev Respir Med</span>
2020 Feb;14(2):209-217.
Epub 2019 Dec 3
doi: 10.1080/17476348.2020.1698951.
<span class="bold">PMID: </span><a href="/pubmed/31779502" target="_blank">31779502</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30272503">Management of Malignant Pleural Effusions. An Official ATS/STS/STR Clinical Practice Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Feller-Kopman DJ,
Reddy CB,
DeCamp MM,
Diekemper RL,
Gould MK,
Henry T,
Iyer NP,
Lee YCG,
Lewis SZ,
Maskell NA,
Rahman NM,
Sterman DH,
Wahidi MM,
Balekian AA</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2018 Oct 1;198(7):839-849.
doi: 10.1164/rccm.201807-1415ST.
<span class="bold">PMID: </span><a href="/pubmed/30272503" target="_blank">30272503</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21362716">Diagnosis of pleural effusion: a systematic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGrath EE,
Anderson PB</span><br />
<span class="medgenPMjournal">Am J Crit Care</span>
2011 Mar;20(2):119-27; quiz 128.
doi: 10.4037/ajcc2011685.
<span class="bold">PMID: </span><a href="/pubmed/21362716" target="_blank">21362716</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pleural%20effusion%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 (237)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0032227%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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