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<!--
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||
UID=1788738
|
||
ConceptID=C5441745
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal pulmonary interstitial morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788738</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.">C5441745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Interstitial lung disease; Interstitial pulmonary abnormality</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:0006530">HP:0006530</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015925" target="_blank">MONDO:0015925</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=182095">ORPHA182095</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>
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||
<div class="portlet_content ln">Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</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>
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<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=C5441745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1788738">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=1788738" ref="ncbi_uid=1788738">V</a></span></span><span class="TLline">Abnormal pulmonary interstitial morphology</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="matched_ds">Abnormal pulmonary interstitial morphology</span><ul><li><span class="TLline"><a href="/medgen/8107" ref="tree=MeSH" title="MedGen record for Anthracosis">Anthracosis</a></span><ul><li><span class="TLline"><a href="/medgen/1958" ref="tree=MeSH" title="MedGen record for Anthracosilicosis">Anthracosilicosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116663" ref="tree=MeSH" title="MedGen record for Bronchiolitis obliterans organizing pneumonia">Bronchiolitis obliterans organizing pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/665" ref="tree=MeSH" title="MedGen record for Bronchiolitis obliterans with obstructive pulmonary disease">Bronchiolitis obliterans with obstructive pulmonary disease</a></span></li><li><span class="TLline"><a href="/medgen/65962" ref="tree=MeSH" title="MedGen record for Desquamative interstitial pneumonia">Desquamative interstitial pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/282904" ref="tree=MeSH" title="MedGen record for Eosinophilic pneumonia">Eosinophilic pneumonia</a></span><ul><li><span class="TLline"><a href="/medgen/3085" ref="tree=MeSH" title="MedGen record for Chronic eosinophilic pneumonia">Chronic eosinophilic pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/66083" ref="tree=MeSH" title="MedGen record for Simple pulmonary eosinophilia">Simple pulmonary eosinophilia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1786863" ref="tree=MeSH" title="MedGen record for Glycogen accumulation in pulmonary interstitial cells">Glycogen accumulation in pulmonary interstitial cells</a></span></li><li><span class="TLline"><a href="/medgen/910019" ref="tree=MeSH" title="MedGen record for Honeycomb lung">Honeycomb lung</a></span></li><li><span class="TLline"><a href="/medgen/1446" ref="tree=MeSH" title="MedGen record for Hypersensitivity pneumonitis">Hypersensitivity pneumonitis</a></span><ul><li><span class="TLline"><a href="/medgen/2539" ref="tree=MeSH" title="MedGen record for Bagassosis">Bagassosis</a></span></li><li><span class="TLline"><a href="/medgen/586" ref="tree=MeSH" title="MedGen record for Bird-fanciers lung">Bird-fanciers lung</a></span></li><li><span class="TLline"><a href="/medgen/8785" ref="tree=MeSH" title="MedGen record for Farmers lung">Farmers lung</a></span></li><li><span class="TLline"><a href="/medgen/1387737" ref="tree=MeSH" title="MedGen record for House allergic alveolitis">House allergic alveolitis</a></span></li><li><span class="TLline"><a href="/medgen/11428" ref="tree=MeSH" title="MedGen record for Silo filler disease">Silo filler disease</a></span></li><li><span class="TLline"><a href="/medgen/452453" ref="tree=MeSH" title="MedGen record for Trichosporonosis">Trichosporonosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61507" ref="tree=MeSH" title="MedGen record for Interstitial pneumonitis">Interstitial pneumonitis</a></span><ul><li><span class="TLline"><a href="/medgen/389939" ref="tree=MeSH" title="MedGen record for Idiopathic interstitial pneumonia">Idiopathic interstitial pneumonia</a></span><ul><li><span class="TLline"><a href="/medgen/39340" ref="tree=MeSH" title="MedGen record for Acute interstitial pneumonia">Acute interstitial pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/838971" ref="tree=MeSH" title="MedGen record for Combined pulmonary fibrosis-emphysema syndrome">Combined pulmonary fibrosis-emphysema syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1798890" ref="tree=MeSH" title="MedGen record for Idiopathic pleuroparenchymal fibroelastosis">Idiopathic pleuroparenchymal fibroelastosis</a></span></li><li><span class="TLline"><a href="/medgen/321462" ref="tree=MeSH" title="MedGen record for Idiopathic Pulmonary Fibrosis">Idiopathic Pulmonary Fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1794136" ref="tree=MeSH" title="MedGen record for Interstitial lung disease 2">Interstitial lung disease 2</a></span></li><li><span class="TLline"><a href="/medgen/82682" ref="tree=MeSH" title="MedGen record for Lymphoid interstitial pneumonia">Lymphoid interstitial pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/220936" ref="tree=MeSH" title="MedGen record for Non-specific interstitial pneumonia">Non-specific interstitial pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/1672485" ref="tree=MeSH" title="MedGen record for Respiratory bronchiolitis-interstitial lung disease syndrome">Respiratory bronchiolitis-interstitial lung disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1662563" ref="tree=MeSH" title="MedGen record for Usual interstitial pneumonia">Usual interstitial pneumonia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1368837" ref="tree=MeSH" title="MedGen record for Intralobular interstitial thickening">Intralobular interstitial thickening</a></span></li><li><span class="TLline"><a href="/medgen/19362" ref="tree=MeSH" title="MedGen record for Lipid pneumonia">Lipid pneumonia</a></span><ul><li><span class="TLline"><a href="/medgen/538619" ref="tree=MeSH" title="MedGen record for Endogenous lipoid pneumonia">Endogenous lipoid pneumonia</a></span></li><li><span class="TLline"><a href="/medgen/1778104" ref="tree=MeSH" title="MedGen record for Exogenous lipoid pneumonia">Exogenous lipoid pneumonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1778890" ref="tree=MeSH" title="MedGen record for Multiple pulmonary interstitial hyalinized nodules">Multiple pulmonary interstitial hyalinized nodules</a></span></li><li><span class="TLline"><a href="/medgen/1369014" ref="tree=MeSH" title="MedGen record for Peribronchovascular interstitial thickening">Peribronchovascular interstitial thickening</a></span></li><li><span class="TLline"><a href="/medgen/1785780" ref="tree=MeSH" title="MedGen record for Pleural cobblestoning">Pleural cobblestoning</a></span></li><li><span class="TLline"><a href="/medgen/11028" ref="tree=MeSH" title="MedGen record for Pulmonary fibrosis">Pulmonary fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/1778266" ref="tree=MeSH" title="MedGen record for Bilateral apical pulmonary fibrosis">Bilateral apical pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/573414" ref="tree=MeSH" title="MedGen record for Bilateral basilar pulmonary fibrosis">Bilateral basilar pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/167847" ref="tree=MeSH" title="MedGen record for Diffuse pulmonary fibrosis">Diffuse pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/137936" ref="tree=MeSH" title="MedGen record for Localized pulmonary fibrosis">Localized pulmonary fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/830594" ref="tree=MeSH" title="MedGen record for Pulmonary granulomatosis">Pulmonary granulomatosis</a></span><ul><li><span class="TLline"><a href="/medgen/536754" ref="tree=MeSH" title="MedGen record for Bronchocentric granulomatosis">Bronchocentric granulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1785597" ref="tree=MeSH" title="MedGen record for Necrotizing pulmonary granulomatosis">Necrotizing pulmonary granulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1788783" ref="tree=MeSH" title="MedGen record for Non-necrotizing pulmonary granulomatosis">Non-necrotizing pulmonary granulomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1785260" ref="tree=MeSH" title="MedGen record for Pulmonary interstitial lymphocyte infiltration">Pulmonary interstitial lymphocyte infiltration</a></span><ul><li><span class="TLline"><a href="/medgen/1841705" ref="tree=MeSH" title="MedGen record for Diffuse pulmonary lymphoid hyperplasia">Diffuse pulmonary lymphoid hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/696309" ref="tree=MeSH" title="MedGen record for Follicular bronchiolitis">Follicular bronchiolitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/264101" ref="tree=MeSH" title="MedGen record for Pulmonary Langerhans cell histiocytosis">Pulmonary Langerhans cell histiocytosis</a></span></li><li><span class="TLline"><a href="/medgen/538624" ref="tree=MeSH" title="MedGen record for Pulmonary necrosis">Pulmonary necrosis</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_78651"><div><strong>Niemann-Pick disease, type B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78651</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.">C0268243</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 phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). Enzyme replacement therapy (ERT) is currently FDA approved for the non-central nervous system manifestations of ASMD, regardless of type. As more affected individuals are treated with ERT for longer periods of time, the natural history of ASMD is likely to change. The most common presenting symptom in untreated NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Growth failure typically becomes evident by the second year of life. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. This feature may not be amenable to ERT. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children, although it is unclear if ERT will have an impact on this. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most untreated children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized in untreated individuals by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some central nervous system manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B, even when untreated.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78651">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_409531"><div><strong>Gaucher disease type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409531</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.">C1961835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/409531">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_416514"><div><strong>Familial hemophagocytic lymphohistiocytosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416514</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.">C2751293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, 251850). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by Meeths et al., 2010; Pagel et al., 2012; Stepensky et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see 267700.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/416514">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</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.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_895551"><div><strong>Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895551</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.">C4225400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/895551">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934713"><div><strong>Hermansky-Pudlak syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934713</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.">C4310746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934713">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1388385"><div><strong>Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1388385</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.">C4518785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1388385">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1800821"><div><strong>Autoimmune interstitial lung disease-arthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800821</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.">C5243948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Systemic autoinflammation and autoimmunity with immune dysregulation (AIAISD) is an autosomal dominant systemic autoinflammatory disorder with autoimmunity and immune dysregulation. Affected individuals present in the first decade of life with variable features that may include interstitial lung disease, alveolar hemorrhage, inflammatory arthritis, neuromyelitis optica, livedo reticularis, dysautonomia, recurrent infections, and renal disease. Laboratory studies usually show high-titer autoantibodies and features of inflammation, including a type I interferon (e.g., 147660) signature and elevation of inflammatory cytokines. The disorder shows significant incomplete penetrance; most carrier parents are unaffected (summary by Watkin et al., 2015; Delafontaine et al., 2024).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1800821">Condition Record</a></div></div>
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<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>
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<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>
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<div class="divPopper rprt" id="rdis_1770895"><div><strong>Rajab interstitial lung disease with brain calcifications 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770895</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.">C5436603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1770895">Condition Record</a></div></div>
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<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) Click for more information.">C5562073</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794283">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1812153"><div><strong>Knobloch syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812153</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.">C5676897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Knobloch syndrome-2 (KNO2) is characterized by severe vitreoretinal degeneration associated with occipital skull defects, ranging from mild encephalocele to abnormally pigmented hair. Developmental delay may be mild or severe (Antonarakis et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Knobloch syndrome, see KNO1 (267750).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1812153">Condition Record</a></div></div>
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<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) Click for more information.">C5774306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824079">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800821" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune interstitial lung disease-arthritis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1388385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease type I</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 91 and hyperinflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knobloch syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Niemann-Pick disease, type B</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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770895" 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 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory infections, recurrent, and failure to thrive with or without diarrhea</a></div>
|
||
<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_895551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36829083">Calcific aortic valve disease: mechanisms, prevention and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moncla LM,
|
||
Briend M,
|
||
Bossé Y,
|
||
Mathieu P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Aug;20(8):546-559.
|
||
Epub 2023 Feb 24
|
||
doi: 10.1038/s41569-023-00845-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36829083" target="_blank">36829083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36220705">Idiopathic pulmonary fibrosis: Diagnosis, biomarkers and newer treatment protocols.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel H,
|
||
Shah JR,
|
||
Patel DR,
|
||
Avanthika C,
|
||
Jhaveri S,
|
||
Gor K</span><br />
|
||
<span class="medgenPMjournal">Dis Mon</span>
|
||
2023 Jul;69(7):101484.
|
||
Epub 2022 Oct 9
|
||
doi: 10.1016/j.disamonth.2022.101484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36220705" target="_blank">36220705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940489">Tropical pulmonary eosinophilia: pathogenesis, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vijayan VK</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
|
||
2007 Sep;13(5):428-33.
|
||
doi: 10.1097/MCP.0b013e3281eb8ec9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940489" target="_blank">17940489</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20pulmonary%20interstitial%20morphology)%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 (29)</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/37055089">Smoking-Related Interstitial Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alarcon-Calderon A,
|
||
Vassallo R,
|
||
Yi ES,
|
||
Ryu JH</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2023 May;43(2):273-287.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1016/j.iac.2023.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055089" target="_blank">37055089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36829083">Calcific aortic valve disease: mechanisms, prevention and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moncla LM,
|
||
Briend M,
|
||
Bossé Y,
|
||
Mathieu P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Aug;20(8):546-559.
|
||
Epub 2023 Feb 24
|
||
doi: 10.1038/s41569-023-00845-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36829083" target="_blank">36829083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32649920">Interstitial lung abnormalities detected incidentally on CT: a Position Paper from the Fleischner Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatabu H,
|
||
Hunninghake GM,
|
||
Richeldi L,
|
||
Brown KK,
|
||
Wells AU,
|
||
Remy-Jardin M,
|
||
Verschakelen J,
|
||
Nicholson AG,
|
||
Beasley MB,
|
||
Christiani DC,
|
||
San José Estépar R,
|
||
Seo JB,
|
||
Johkoh T,
|
||
Sverzellati N,
|
||
Ryerson CJ,
|
||
Graham Barr R,
|
||
Goo JM,
|
||
Austin JHM,
|
||
Powell CA,
|
||
Lee KS,
|
||
Inoue Y,
|
||
Lynch DA</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2020 Jul;8(7):726-737.
|
||
doi: 10.1016/S2213-2600(20)30168-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32649920" target="_blank">32649920</a><a href="/pmc/articles/PMC7970441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31273209">Sarcoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grunewald J,
|
||
Grutters JC,
|
||
Arkema EV,
|
||
Saketkoo LA,
|
||
Moller DR,
|
||
Müller-Quernheim J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2019 Jul 4;5(1):45.
|
||
doi: 10.1038/s41572-019-0096-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31273209" target="_blank">31273209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188578">Calcific aortic stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindman BR,
|
||
Clavel MA,
|
||
Mathieu P,
|
||
Iung B,
|
||
Lancellotti P,
|
||
Otto CM,
|
||
Pibarot P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Mar 3;2:16006.
|
||
doi: 10.1038/nrdp.2016.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188578" target="_blank">27188578</a><a href="/pmc/articles/PMC5127286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pulmonary%20interstitial%20morphology%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 (503)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38692806">Interstitial Lung Abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beasley MB</span><br />
|
||
<span class="medgenPMjournal">Surg Pathol Clin</span>
|
||
2024 Jun;17(2):215-225.
|
||
Epub 2023 Dec 20
|
||
doi: 10.1016/j.path.2023.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38692806" target="_blank">38692806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055089">Smoking-Related Interstitial Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alarcon-Calderon A,
|
||
Vassallo R,
|
||
Yi ES,
|
||
Ryu JH</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2023 May;43(2):273-287.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1016/j.iac.2023.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055089" target="_blank">37055089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31273209">Sarcoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grunewald J,
|
||
Grutters JC,
|
||
Arkema EV,
|
||
Saketkoo LA,
|
||
Moller DR,
|
||
Müller-Quernheim J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2019 Jul 4;5(1):45.
|
||
doi: 10.1038/s41572-019-0096-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31273209" target="_blank">31273209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29625772">Pulmonary sarcoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spagnolo P,
|
||
Rossi G,
|
||
Trisolini R,
|
||
Sverzellati N,
|
||
Baughman RP,
|
||
Wells AU</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2018 May;6(5):389-402.
|
||
Epub 2018 Apr 3
|
||
doi: 10.1016/S2213-2600(18)30064-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29625772" target="_blank">29625772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27180915">Cystic Lung Diseases: Algorithmic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raoof S,
|
||
Bondalapati P,
|
||
Vydyula R,
|
||
Ryu JH,
|
||
Gupta N,
|
||
Raoof S,
|
||
Galvin J,
|
||
Rosen MJ,
|
||
Lynch D,
|
||
Travis W,
|
||
Mehta S,
|
||
Lazzaro R,
|
||
Naidich D</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2016 Oct;150(4):945-965.
|
||
Epub 2016 May 13
|
||
doi: 10.1016/j.chest.2016.04.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27180915" target="_blank">27180915</a><a href="/pmc/articles/PMC7534033" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pulmonary%20interstitial%20morphology%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 (635)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055089">Smoking-Related Interstitial Lung Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alarcon-Calderon A,
|
||
Vassallo R,
|
||
Yi ES,
|
||
Ryu JH</span><br />
|
||
<span class="medgenPMjournal">Immunol Allergy Clin North Am</span>
|
||
2023 May;43(2):273-287.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1016/j.iac.2023.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055089" target="_blank">37055089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33201251">Emerging cellular and molecular determinants of idiopathic pulmonary fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phan THG,
|
||
Paliogiannis P,
|
||
Nasrallah GK,
|
||
Giordo R,
|
||
Eid AH,
|
||
Fois AG,
|
||
Zinellu A,
|
||
Mangoni AA,
|
||
Pintus G</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2021 Mar;78(5):2031-2057.
|
||
Epub 2020 Nov 17
|
||
doi: 10.1007/s00018-020-03693-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33201251" target="_blank">33201251</a><a href="/pmc/articles/PMC7669490" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31425665">Pleuroparenchymal Fibroelastosis. A Review of Clinical, Radiological, and Pathological Characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chua F,
|
||
Desai SR,
|
||
Nicholson AG,
|
||
Devaraj A,
|
||
Renzoni E,
|
||
Rice A,
|
||
Wells AU</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2019 Nov;16(11):1351-1359.
|
||
doi: 10.1513/AnnalsATS.201902-181CME.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/31273209">Sarcoidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grunewald J,
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Grutters JC,
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Arkema EV,
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Saketkoo LA,
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<div class="nl"><a target="_blank" href="/pubmed/29625772">Pulmonary sarcoidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Spagnolo P,
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Rossi G,
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Trisolini R,
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<div class="portlet_content ln"><span class="medgenPMauthor">Volpi S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pulmonary%20interstitial%20morphology%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 (413)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38818750">Single cell analysis in systemic sclerosis - A systematic review.</a></div>
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Yoshizaki-Ogawa A,
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Enomoto A,
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Yamashita T,
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Miyagawa K,
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<span class="bold">PMID: </span><a href="/pubmed/38818750" target="_blank">38818750</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37491177">Radiological Findings as Predictors of COVID-19 Lung Sequelae: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alilou S,
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Zangiabadian M,
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Pouramini A,
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<div class="nl"><a target="_blank" href="/pubmed/37364827">Nonspecific interstitial pneumonia pattern is a frequent finding in patients with post-acute COVID-19 syndrome treated with bilateral orthotopic lung transplantation: current best evidence.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mortazavi S,
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de Peralta-Venturina M,
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/34479523">Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang P,
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Xu Z</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/34479523" target="_blank">34479523</a><a href="/pmc/articles/PMC8418029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14748759">Gemcitabine-induced severe pulmonary toxicity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Barlési F,
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Villani P,
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Doddoli C,
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Gimenez C,
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Kleisbauer JP</span><br />
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<span class="medgenPMjournal">Fundam Clin Pharmacol</span>
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2004 Feb;18(1):85-91.
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<span class="bold">PMID: </span><a href="/pubmed/14748759" target="_blank">14748759</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20pulmonary%20interstitial%20morphology%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 (9)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5441745%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C5441745%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5441745%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20pulmonary%20interstitial%20morphology)%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(%22Abnormal%20pulmonary%20interstitial%20morphology%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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