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<title>
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Entry
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- #173600 - PNEUMOTHORAX, PRIMARY SPONTANEOUS; PSP
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- OMIM
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<span class="h4">#173600</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/173600"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(PNEUMOTHORAX, PRIMARY SPONTANEOUS) OR (FLCN)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=564&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2903" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080218" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/173600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000804/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080218" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 328561000119107<br />
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<strong>ICD10CM:</strong> J93.11<br />
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<strong>ICD9CM:</strong> 512.81<br />
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<strong>ORPHA:</strong> 2903<br />
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<strong>DO:</strong> 0080218<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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173600
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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PNEUMOTHORAX, PRIMARY SPONTANEOUS; PSP
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/264?start=-3&limit=10&highlight=264">
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17p11.2
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</a>
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<td>
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<span class="mim-font">
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Pneumothorax, primary spontaneous
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/173600"> 173600 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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FLCN
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607273"> 607273 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/173600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/173600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/173600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> RESPIRATORY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="h5 mim-font">
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<em> Lung </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Subpleural blebs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868194</a>]</span><br /> -
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Bullae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1303092009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1303092009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278976004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278976004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/339008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">339008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241982</a>, <a href="https://bioportal.bioontology.org/search?q=C0005758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032446</a>]</span><br /> -
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Pneumothorax <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36118008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36118008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J93.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J93.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032326</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002107</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Majority of cases are sporadic, often in tall, thin men<br /> -
|
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Allelic to Birt-Hogg-Dube syndrome (<a href="/entry/135150">135150</a>)<br /> -
|
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Bullae are located randomly in familial cases and apical in sporadic cases<br /> -
|
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Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the folliculin gene (FLCN, <a href="/entry/607273#0009">607273.0009</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that some cases of primary spontaneous pneumothorax (PSP) are caused by heterozygous mutation in the gene encoding folliculin (FLCN; <a href="/entry/607273">607273</a>) on chromosome 17p11.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Primary spontaneous pneumothorax (PSP) is a condition in which air enters the pleural space and causes secondary lung collapse. It is mostly sporadic but also occurs in families. It is associated with bullae in the lungs of most patients (summary by <a href="#9" class="mim-tip-reference" title="Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K. <strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong> Am. J. Hum. Genet. 76: 522-527, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15657874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/428455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657874">Painter et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Birt-Hogg-Dube syndrome (BHD; <a href="/entry/135150">135150</a>), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is also caused by mutation in the FLCN gene. <a href="#5" class="mim-tip-reference" title="Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K. <strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong> J. Med. Genet. 44: 588-593, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496196">Gunji et al. (2007)</a> suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (<a href="/entry/154700">154700</a>) and the Ehlers-Danlos syndrome (see, e.g., <a href="/entry/130000">130000</a>). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (<a href="/entry/613490">613490</a>).</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#4" class="mim-tip-reference" title="Brock, R. C. <strong>Recurrent and chronic spontaneous pneumothorax.</strong> Thorax 3: 88-111, 1948.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18867168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18867168</a>] [<a href="https://doi.org/10.1136/thx.3.2.88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18867168">Brock (1948)</a> observed recurrent and chronic spontaneous pneumothorax and suggested that hereditary lung cysts were the anatomic substrate. <a href="#2" class="mim-tip-reference" title="Berlin, R. <strong>Familial occurrence of pneumothorax simplex.</strong> Acta Med. Scand. 137: 268-275, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15418962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15418962</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1950.tb11378.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15418962">Berlin (1950)</a> and <a href="#3" class="mim-tip-reference" title="Boyd, D. H. A. <strong>Familial spontaneous pneumothorax.</strong> Scot. Med. J. 2: 220-221, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13432837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13432837</a>] [<a href="https://doi.org/10.1177/003693305700200506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13432837">Boyd (1957)</a> observed familial occurrence of spontaneous pneumothorax in patients without other stigmata of connective tissue disease. <a href="#13" class="mim-tip-reference" title="Stephenson, S. F. <strong>Spontaneous pneumothorax, the sharp rib syndrome.</strong> Thorax 31: 369-372, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/968792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">968792</a>] [<a href="https://doi.org/10.1136/thx.31.4.369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="968792">Stephenson (1976)</a> discussed an association between spontaneous pneumothorax and apical bullae, apical scars, and sharpness of the inner border of the first or second ribs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=968792+15418962+13432837+18867168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Leman, C. B., Dines, D. E. <strong>Treatment of recurrent spontaneous familial pneumothorax. (Letter)</strong> JAMA 225: 1256 only, 1973."None>Leman and Dines (1973)</a> described a family in which 4 members, a man and 3 daughters, including identical twins, had recurrent spontaneous pneumothorax. <a href="#16" class="mim-tip-reference" title="Wilson, W. G., Aylsworth, A. S. <strong>Familial spontaneous pneumothorax.</strong> Pediatrics 64: 172-175, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471607</a>]" pmid="471607">Wilson and Aylsworth (1979)</a> described unilateral pneumothorax in a newborn whose maternal grandmother and 2 maternal uncles had had pneumothorax; 1 maternal uncle died at age 2 months of bilateral pneumothorax. <a href="#10" class="mim-tip-reference" title="Rashid, A., Sendi, A., Al-Kadhimi, A., Donnelly, R. J. <strong>Concurrent spontaneous pneumothorax in identical twins.</strong> Thorax 41: 971 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3590059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3590059</a>] [<a href="https://doi.org/10.1136/thx.41.12.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3590059">Rashid et al. (1986)</a> described concurrent spontaneous pneumothorax in 71-year-old male twins. <a href="#14" class="mim-tip-reference" title="Sugiyama, Y., Maeda, H., Yotsumoto, H., Takaku, F. <strong>Familial spontaneous pneumothorax.</strong> Thorax 41: 969-970, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3590058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3590058</a>] [<a href="https://doi.org/10.1136/thx.41.12.969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3590058">Sugiyama et al. (1986)</a> described brothers, aged 18 and 20 years, with spontaneous pneumothorax. Although one of them was said to have had the Walker-Murdoch wrist sign characteristic of the Marfan syndrome (<a href="#15" class="mim-tip-reference" title="Walker, B. A., Murdoch, J. L. <strong>Wrist sign.</strong> Arch. Intern. Med. 126: 276-277, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5433066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5433066</a>] [<a href="https://doi.org/10.1001/archinte.126.2.276" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5433066">Walker and Murdoch, 1970</a>), he showed no evidence of ectopia lentis or aortic root and mitral valve abnormalities on appropriate studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3590059+3590058+471607+5433066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Morrison, P. J., Lowry, R. C., Nevin, N. C. <strong>Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.</strong> Thorax 53: 151-152, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624302</a>] [<a href="https://doi.org/10.1136/thx.53.2.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9624302">Morrison et al. (1998)</a> described a family in which the father and 3 of 6 offspring, 2 sons and 1 daughter, had episodes of spontaneous pneumothorax. The age of onset varied by up to 13 years within the family. The father had pneumothorax at the age of 32 years. The older brother, a smoker, had pneumothorax at age 30; the younger brother, a nonsmoker, had 3 episodes of pneumothorax within a period of 1 year. Their sister, a smoker, presented with pneumothorax at the age of 17 years. Examination showed no signs of Marfan syndrome, Ehlers-Danlos syndrome, or other connective tissue disorders. Alpha-1-antitrypsin assays were normal. Chest radiographs showed no bullae, and respiratory function tests, including diffusion studies, were all within normal limits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K. <strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong> J. Med. Genet. 44: 588-593, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496196">Gunji et al. (2007)</a> reported 5 unrelated patients with multiple lung cysts and recurrent spontaneous pneumothorax with mutation in the FLCN gene. The mean age at onset of first pneumothorax was 30.4 years; none of the patients had skin or renal features. All patients reported a family history of the condition. In 1 family, the proband and his affected brother inherited the disorder from their mother, who did not have pneumothorax by age 56 but did have multiple pulmonary cysts on CT scan. A sister of the mother was reportedly affected. A second family had 9 affected members, and the proband's paternal aunt had pneumothorax and renal cancer. <a href="#5" class="mim-tip-reference" title="Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K. <strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong> J. Med. Genet. 44: 588-593, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496196">Gunji et al. (2007)</a> suggested that isolated pulmonary cysts and pneumothorax may be a milder form of BHD syndrome and that patients should be monitored for renal or skin lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Primary spontaneous pneumothorax caused by mutation in the FLCN gene is inherited in an autosomal dominant pattern (<a href="#5" class="mim-tip-reference" title="Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K. <strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong> J. Med. Genet. 44: 588-593, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496196">Gunji et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abolnik, I. Z., Lossos, I. S., Zlotogora, J., Brauer, R. <strong>On the inheritance of primary spontaneous pneumothorax.</strong> Am. J. Med. Genet. 40: 155-158, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897568</a>] [<a href="https://doi.org/10.1002/ajmg.1320400207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1897568">Abolnik et al. (1991)</a> did a retrospective family survey of pneumothorax in males who had served in the Israeli Defense Forces; 286 persons with primary spontaneous pneumothorax were investigated. In 33, a family history of pneumothorax was obtained. Autosomal dominant inheritance with reduced penetrance in females was suggested by many of the pedigrees in the literature and in this study. X-linked inheritance was suggested by 11 pedigrees: in 4 families, the affected males were born to unaffected parents and were related through healthy women; in 7 families, only brothers were affected while both parents were normal. However, this pedigree pattern could also have resulted from reduced penetrance in females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The affected family reported by <a href="#8" class="mim-tip-reference" title="Morrison, P. J., Lowry, R. C., Nevin, N. C. <strong>Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.</strong> Thorax 53: 151-152, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624302</a>] [<a href="https://doi.org/10.1136/thx.53.2.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9624302">Morrison et al. (1998)</a> showed autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By a genomewide scan in a large Finnish family with a dominantly inherited tendency to primary spontaneous pneumothorax, <a href="#9" class="mim-tip-reference" title="Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K. <strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong> Am. J. Hum. Genet. 76: 522-527, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15657874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/428455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657874">Painter et al. (2005)</a> found linkage of PSP to chromosome 17p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a large Finnish family with autosomal dominant spontaneous pneumothorax, <a href="#9" class="mim-tip-reference" title="Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K. <strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong> Am. J. Hum. Genet. 76: 522-527, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15657874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/428455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657874">Painter et al. (2005)</a> identified a heterozygous 4-bp deletion in the FLCN gene (<a href="/entry/607273#0009">607273.0009</a>). All carriers of the deletion had bullous lung lesions as the only manifestation with 100% penetrance. Because of the strong association between primary spontaneous pneumothorax and the Birt-Hogg-Dube syndrome, <a href="#9" class="mim-tip-reference" title="Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K. <strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong> Am. J. Hum. Genet. 76: 522-527, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15657874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/428455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657874">Painter et al. (2005)</a> suggested that patients with familial PSP may be at greater risk of developing renal cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 of 8 patients with multiple lung cysts and recurrent spontaneous pneumothorax, <a href="#5" class="mim-tip-reference" title="Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K. <strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong> J. Med. Genet. 44: 588-593, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17496196">Gunji et al. (2007)</a> identified heterozygous mutations in the FLCN gene (see, e.g., <a href="/entry/607273#0001">607273.0001</a>; <a href="/entry/607273#0010">607273.0010</a>; <a href="/entry/607273#0011">607273.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 10 of 102 Chinese probands with spontaneous pneumothorax, <a href="#11" class="mim-tip-reference" title="Ren, H.-Z., Zhu, C.-C., Yang, C., Chen, S.-L., Xie, J., Hou, Y.-Y., Xu, Z.-F., Wang, D.-J., Mu, D.-K., Ma, D.-H., Wang, Y., Ye, M.-H., Ye, Z.-R., Chen, B.-F., Wang, C.-G., Lin, J., Qiao, D., Yi, L. <strong>Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.</strong> Clin. Genet. 74: 178-183, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505456</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01030.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18505456">Ren et al. (2008)</a> identified 4 different mutations in the FLCN gene (see, e.g., <a href="/entry/607273#0001">607273.0001</a>; <a href="/entry/607272#0012">607272.0012</a>-<a href="/entry/607272#0013">607272.0013</a>). Although only 5 of the probands reported a family history of the disorder, genetic analysis showed that 8 of the probands had family members with pneumothorax or pulmonary cysts as determined by imaging studies. Two mutation carriers from 2 different families did not have pulmonary cysts. The findings indicated reduced penetrance of both the pneumothorax phenotype and the cyst phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kunogi, M., Kurihara, M., Ikegami, T. S., Kobayashi, T., Shindo, N., Kumasaka, T., Gunji, Y., Kikkawa, M., Iwakami, S., Hino, O., Takahashi, K., Seyama, K. <strong>Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.</strong> J. Med. Genet. 47: 281-287, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20413710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20413710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20413710[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.070565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20413710">Kunogi et al. (2010)</a> screened the FLCN gene by DHPLC in 36 Japanese patients with multiple lung cysts of undetermined causes, all but 1 of whom had suffered at least 1 pneumothorax, and identified 13 different germline mutations in 23 of the patients, respectively. The remaining 13 patients were further analyzed by quantitative PCR, and large genomic deletions were found in 2 (see, e.g., <a href="/entry/607273#0017">607273.0017</a>); thus 25 (69.4%) of the 36 patients had germline FLCN mutations. Only 6 of the mutation-positive patients had skin lesions, and 2 others had renal tumors, 1 of which was an angiomyolipoma and the other a renal cancer (histopathologic information unavailable). <a href="#6" class="mim-tip-reference" title="Kunogi, M., Kurihara, M., Ikegami, T. S., Kobayashi, T., Shindo, N., Kumasaka, T., Gunji, Y., Kikkawa, M., Iwakami, S., Hino, O., Takahashi, K., Seyama, K. <strong>Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.</strong> J. Med. Genet. 47: 281-287, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20413710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20413710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20413710[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2009.070565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20413710">Kunogi et al. (2010)</a> noted that 13 (52%) of the 25 mutations were located in the 3-prime end of the FLCN gene, and that these Japanese patients with FLCN mutations had a very low incidence of skin and renal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20413710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Sharpe1980" class="mim-tip-reference" title="Sharpe, I. K., Ahmad, M., Braun, W. <strong>Familial spontaneous pneumothorax and HLA antigens.</strong> Chest 78: 264-268, 1980.">Sharpe et al. (1980)</a>
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Abolnik, I. Z., Lossos, I. S., Zlotogora, J., Brauer, R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1897568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1897568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1897568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320400207" target="_blank">Full Text</a>]
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Berlin, R.
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<strong>Familial occurrence of pneumothorax simplex.</strong>
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Acta Med. Scand. 137: 268-275, 1950.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15418962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15418962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15418962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1950.tb11378.x" target="_blank">Full Text</a>]
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Boyd, D. H. A.
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<strong>Familial spontaneous pneumothorax.</strong>
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Scot. Med. J. 2: 220-221, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13432837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13432837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13432837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/003693305700200506" target="_blank">Full Text</a>]
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Brock, R. C.
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<strong>Recurrent and chronic spontaneous pneumothorax.</strong>
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Thorax 3: 88-111, 1948.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18867168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18867168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18867168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gunji, Y., Akiyoshi, T., Sato, T., Kurihara, M., Tominaga, S., Takahashi, K., Seyama, K.
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<strong>Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (Letter)</strong>
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J. Med. Genet. 44: 588-593, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17496196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17496196</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17496196[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17496196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2007.049874" target="_blank">Full Text</a>]
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Kunogi, M., Kurihara, M., Ikegami, T. S., Kobayashi, T., Shindo, N., Kumasaka, T., Gunji, Y., Kikkawa, M., Iwakami, S., Hino, O., Takahashi, K., Seyama, K.
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<strong>Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.</strong>
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J. Med. Genet. 47: 281-287, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20413710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20413710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20413710[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20413710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2009.070565" target="_blank">Full Text</a>]
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Leman, C. B., Dines, D. E.
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<strong>Treatment of recurrent spontaneous familial pneumothorax. (Letter)</strong>
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JAMA 225: 1256 only, 1973.
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Morrison, P. J., Lowry, R. C., Nevin, N. C.
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<strong>Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.</strong>
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Thorax 53: 151-152, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/thx.53.2.151" target="_blank">Full Text</a>]
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Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K.
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<strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong>
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Am. J. Hum. Genet. 76: 522-527, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15657874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/428455" target="_blank">Full Text</a>]
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Rashid, A., Sendi, A., Al-Kadhimi, A., Donnelly, R. J.
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<strong>Concurrent spontaneous pneumothorax in identical twins.</strong>
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Thorax 41: 971 only, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3590059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3590059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3590059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/thx.41.12.971" target="_blank">Full Text</a>]
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Ren, H.-Z., Zhu, C.-C., Yang, C., Chen, S.-L., Xie, J., Hou, Y.-Y., Xu, Z.-F., Wang, D.-J., Mu, D.-K., Ma, D.-H., Wang, Y., Ye, M.-H., Ye, Z.-R., Chen, B.-F., Wang, C.-G., Lin, J., Qiao, D., Yi, L.
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<strong>Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.</strong>
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Clin. Genet. 74: 178-183, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.01030.x" target="_blank">Full Text</a>]
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Sharpe, I. K., Ahmad, M., Braun, W.
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<strong>Familial spontaneous pneumothorax and HLA antigens.</strong>
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Chest 78: 264-268, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6967392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6967392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6967392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1378/chest.78.2.264" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Stephenson1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stephenson, S. F.
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<strong>Spontaneous pneumothorax, the sharp rib syndrome.</strong>
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Thorax 31: 369-372, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/968792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">968792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=968792" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/thx.31.4.369" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Sugiyama1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sugiyama, Y., Maeda, H., Yotsumoto, H., Takaku, F.
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<strong>Familial spontaneous pneumothorax.</strong>
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Thorax 41: 969-970, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3590058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3590058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3590058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/thx.41.12.969" target="_blank">Full Text</a>]
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</p>
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<a id="15" class="mim-anchor"></a>
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<a id="Walker1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, B. A., Murdoch, J. L.
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<strong>Wrist sign.</strong>
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Arch. Intern. Med. 126: 276-277, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5433066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5433066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5433066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archinte.126.2.276" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Wilson1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, W. G., Aylsworth, A. S.
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<strong>Familial spontaneous pneumothorax.</strong>
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Pediatrics 64: 172-175, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=471607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/24/2010
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/19/2008<br>Cassandra L. Kniffin - updated : 10/31/2007<br>Victor A. McKusick - updated : 2/9/2005<br>Victor A. McKusick - updated : 1/20/1999
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/02/2023
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/24/2023<br>carol : 05/23/2023<br>carol : 08/25/2016<br>carol : 06/08/2016<br>wwang : 9/27/2010<br>terry : 9/24/2010<br>carol : 8/13/2010<br>terry : 6/3/2009<br>wwang : 8/25/2008<br>ckniffin : 8/19/2008<br>wwang : 11/13/2007<br>ckniffin : 10/31/2007<br>carol : 2/11/2005<br>terry : 2/9/2005<br>joanna : 3/18/2004<br>carol : 1/21/1999<br>terry : 1/20/1999<br>mimadm : 1/14/1995<br>carol : 10/20/1992<br>supermim : 3/16/1992<br>carol : 10/3/1991<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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</span>
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</div>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 173600
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PNEUMOTHORAX, PRIMARY SPONTANEOUS; PSP
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</span>
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</h3>
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<div>
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<br />
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 328561000119107;
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<strong>ICD10CM:</strong> J93.11;
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<strong>ICD9CM:</strong> 512.81;
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<strong>ORPHA:</strong> 2903;
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<strong>DO:</strong> 0080218;
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</span>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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17p11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Pneumothorax, primary spontaneous
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</span>
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</td>
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<td>
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<span class="mim-font">
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173600
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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FLCN
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</span>
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</td>
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<td>
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<span class="mim-font">
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607273
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that some cases of primary spontaneous pneumothorax (PSP) are caused by heterozygous mutation in the gene encoding folliculin (FLCN; 607273) on chromosome 17p11.</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Primary spontaneous pneumothorax (PSP) is a condition in which air enters the pleural space and causes secondary lung collapse. It is mostly sporadic but also occurs in families. It is associated with bullae in the lungs of most patients (summary by Painter et al., 2005). </p><p>Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is also caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. </p><p>Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490).</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Brock (1948) observed recurrent and chronic spontaneous pneumothorax and suggested that hereditary lung cysts were the anatomic substrate. Berlin (1950) and Boyd (1957) observed familial occurrence of spontaneous pneumothorax in patients without other stigmata of connective tissue disease. Stephenson (1976) discussed an association between spontaneous pneumothorax and apical bullae, apical scars, and sharpness of the inner border of the first or second ribs. </p><p>Leman and Dines (1973) described a family in which 4 members, a man and 3 daughters, including identical twins, had recurrent spontaneous pneumothorax. Wilson and Aylsworth (1979) described unilateral pneumothorax in a newborn whose maternal grandmother and 2 maternal uncles had had pneumothorax; 1 maternal uncle died at age 2 months of bilateral pneumothorax. Rashid et al. (1986) described concurrent spontaneous pneumothorax in 71-year-old male twins. Sugiyama et al. (1986) described brothers, aged 18 and 20 years, with spontaneous pneumothorax. Although one of them was said to have had the Walker-Murdoch wrist sign characteristic of the Marfan syndrome (Walker and Murdoch, 1970), he showed no evidence of ectopia lentis or aortic root and mitral valve abnormalities on appropriate studies. </p><p>Morrison et al. (1998) described a family in which the father and 3 of 6 offspring, 2 sons and 1 daughter, had episodes of spontaneous pneumothorax. The age of onset varied by up to 13 years within the family. The father had pneumothorax at the age of 32 years. The older brother, a smoker, had pneumothorax at age 30; the younger brother, a nonsmoker, had 3 episodes of pneumothorax within a period of 1 year. Their sister, a smoker, presented with pneumothorax at the age of 17 years. Examination showed no signs of Marfan syndrome, Ehlers-Danlos syndrome, or other connective tissue disorders. Alpha-1-antitrypsin assays were normal. Chest radiographs showed no bullae, and respiratory function tests, including diffusion studies, were all within normal limits. </p><p>Gunji et al. (2007) reported 5 unrelated patients with multiple lung cysts and recurrent spontaneous pneumothorax with mutation in the FLCN gene. The mean age at onset of first pneumothorax was 30.4 years; none of the patients had skin or renal features. All patients reported a family history of the condition. In 1 family, the proband and his affected brother inherited the disorder from their mother, who did not have pneumothorax by age 56 but did have multiple pulmonary cysts on CT scan. A sister of the mother was reportedly affected. A second family had 9 affected members, and the proband's paternal aunt had pneumothorax and renal cancer. Gunji et al. (2007) suggested that isolated pulmonary cysts and pneumothorax may be a milder form of BHD syndrome and that patients should be monitored for renal or skin lesions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Primary spontaneous pneumothorax caused by mutation in the FLCN gene is inherited in an autosomal dominant pattern (Gunji et al., 2007). </p><p>Abolnik et al. (1991) did a retrospective family survey of pneumothorax in males who had served in the Israeli Defense Forces; 286 persons with primary spontaneous pneumothorax were investigated. In 33, a family history of pneumothorax was obtained. Autosomal dominant inheritance with reduced penetrance in females was suggested by many of the pedigrees in the literature and in this study. X-linked inheritance was suggested by 11 pedigrees: in 4 families, the affected males were born to unaffected parents and were related through healthy women; in 7 families, only brothers were affected while both parents were normal. However, this pedigree pattern could also have resulted from reduced penetrance in females. </p><p>The affected family reported by Morrison et al. (1998) showed autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By a genomewide scan in a large Finnish family with a dominantly inherited tendency to primary spontaneous pneumothorax, Painter et al. (2005) found linkage of PSP to chromosome 17p11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a large Finnish family with autosomal dominant spontaneous pneumothorax, Painter et al. (2005) identified a heterozygous 4-bp deletion in the FLCN gene (607273.0009). All carriers of the deletion had bullous lung lesions as the only manifestation with 100% penetrance. Because of the strong association between primary spontaneous pneumothorax and the Birt-Hogg-Dube syndrome, Painter et al. (2005) suggested that patients with familial PSP may be at greater risk of developing renal cancer. </p><p>In 5 of 8 patients with multiple lung cysts and recurrent spontaneous pneumothorax, Gunji et al. (2007) identified heterozygous mutations in the FLCN gene (see, e.g., 607273.0001; 607273.0010; 607273.0011). </p><p>In 10 of 102 Chinese probands with spontaneous pneumothorax, Ren et al. (2008) identified 4 different mutations in the FLCN gene (see, e.g., 607273.0001; 607272.0012-607272.0013). Although only 5 of the probands reported a family history of the disorder, genetic analysis showed that 8 of the probands had family members with pneumothorax or pulmonary cysts as determined by imaging studies. Two mutation carriers from 2 different families did not have pulmonary cysts. The findings indicated reduced penetrance of both the pneumothorax phenotype and the cyst phenotype. </p><p>Kunogi et al. (2010) screened the FLCN gene by DHPLC in 36 Japanese patients with multiple lung cysts of undetermined causes, all but 1 of whom had suffered at least 1 pneumothorax, and identified 13 different germline mutations in 23 of the patients, respectively. The remaining 13 patients were further analyzed by quantitative PCR, and large genomic deletions were found in 2 (see, e.g., 607273.0017); thus 25 (69.4%) of the 36 patients had germline FLCN mutations. Only 6 of the mutation-positive patients had skin lesions, and 2 others had renal tumors, 1 of which was an angiomyolipoma and the other a renal cancer (histopathologic information unavailable). Kunogi et al. (2010) noted that 13 (52%) of the 25 mutations were located in the 3-prime end of the FLCN gene, and that these Japanese patients with FLCN mutations had a very low incidence of skin and renal involvement. </p>
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Sharpe et al. (1980)
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<strong>REFERENCES</strong>
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JAMA 225: 1256 only, 1973.
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Morrison, P. J., Lowry, R. C., Nevin, N. C.
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<strong>Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.</strong>
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Thorax 53: 151-152, 1998.
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[PubMed: 9624302]
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Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., Aittomaki, K.
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<strong>A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax.</strong>
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Am. J. Hum. Genet. 76: 522-527, 2005.
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[PubMed: 15657874]
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Rashid, A., Sendi, A., Al-Kadhimi, A., Donnelly, R. J.
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<strong>Concurrent spontaneous pneumothorax in identical twins.</strong>
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Thorax 41: 971 only, 1986.
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Ren, H.-Z., Zhu, C.-C., Yang, C., Chen, S.-L., Xie, J., Hou, Y.-Y., Xu, Z.-F., Wang, D.-J., Mu, D.-K., Ma, D.-H., Wang, Y., Ye, M.-H., Ye, Z.-R., Chen, B.-F., Wang, C.-G., Lin, J., Qiao, D., Yi, L.
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<strong>Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.</strong>
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Sharpe, I. K., Ahmad, M., Braun, W.
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<strong>Familial spontaneous pneumothorax and HLA antigens.</strong>
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Chest 78: 264-268, 1980.
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Stephenson, S. F.
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<strong>Spontaneous pneumothorax, the sharp rib syndrome.</strong>
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Thorax 31: 369-372, 1976.
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<strong>Familial spontaneous pneumothorax.</strong>
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Walker, B. A., Murdoch, J. L.
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<strong>Wrist sign.</strong>
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Arch. Intern. Med. 126: 276-277, 1970.
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[PubMed: 5433066]
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[Full Text: https://doi.org/10.1001/archinte.126.2.276]
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Wilson, W. G., Aylsworth, A. S.
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<strong>Familial spontaneous pneumothorax.</strong>
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Pediatrics 64: 172-175, 1979.
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[PubMed: 471607]
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