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Entry
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- #613329 - PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
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- OMIM
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<p>
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<span class="h4">#613329</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/613329"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=8691&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://www.ncbi.nlm.nih.gov/books/NBK447152/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5796" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/complete-plasminogen-activator-inhibitor-1-deficiency" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=613329[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=465" 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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<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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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>ORPHA:</strong> 465<br />
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">ICD+</a>
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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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613329
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</span>
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</span>
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</div>
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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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PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
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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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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
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</span>
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</h4>
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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="phenotypeMap" class="mim-anchor"></a>
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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 table-hover 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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/7/527?start=-3&limit=10&highlight=527">
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7q22.1
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</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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Plasminogen activator inhibitor-1 deficiency
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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/613329"> 613329 </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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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="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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PAI1
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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/173360"> 173360 </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>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613329" 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/613329" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613329" 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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<p />
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</div>
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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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
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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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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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- Increased bleeding after trauma, surgery, or injury <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278771</a>]</span><br /> -
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Hematomas after trauma or injury <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278772</a>]</span><br /> -
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Bleeding defect due to decreased plasminogen activator inhibitor-1 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278773</a>]</span><br /> -
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Decreased euglobin lysis time <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278774</a>]</span><br /> -
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Increased fibrinolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89470004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89470004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2314905&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2314905</a>, <a href="https://bioportal.bioontology.org/search?q=C0151648&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151648</a>]</span><br /> -
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Menorrhagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386692008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386692008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N92.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N92.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span><br />
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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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- Congenital onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
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Spontaneous bleeding is rare<br /> -
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Favorable management with the fibrinolysis inhibitors (e.g., epsilon-aminocaproic acid and tranexamic acid)<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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, <a href="/entry/173360#0001">173360.0001</a>)<br />
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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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<br />
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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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because plasminogen activator inhibitor-1 (PAI1) deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene (<a href="/entry/173360">173360</a>) on chromosome 7q22.</p>
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<br />
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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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</h4>
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<span class="mim-text-font">
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<p>Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of PAI1, which inhibits tissue (PLAT; <a href="/entry/173370">173370</a>) and urinary (PLAU; <a href="/entry/191840">191840</a>) activators of plasminogen (PLG; <a href="/entry/173350">173350</a>) (review by <a href="#3" class="mim-tip-reference" title="Mehta, R., Shapiro, A. D. <strong>Plasminogen activator inhibitor type 1 deficiency.</strong> Haemophilia 14: 1255-1260, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19141166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19141166</a>] [<a href="https://doi.org/10.1111/j.1365-2516.2008.01834.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19141166">Mehta and Shapiro, 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19141166" 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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<br />
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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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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#5" class="mim-tip-reference" title="Schleef, R. R., Higgins, D. L., Pillemer, E., Levitt, L. J. <strong>Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.</strong> J. Clin. Invest. 83: 1747-1752, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2496147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2496147</a>] [<a href="https://doi.org/10.1172/JCI114076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2496147">Schleef et al. (1989)</a> reported an elderly man with a history of lifelong severe bleeding after surgery or trauma and with evidence of persistent increased fibrinolysis. Laboratory studies showed decreased binding of plasminogen activator inhibitor to radiolabeled tissue plasminogen activator (t-PA). Low patient PAI1 activity was confirmed in serum and in platelet lysates, although PAI1 antigen levels were in the normal range. <a href="#5" class="mim-tip-reference" title="Schleef, R. R., Higgins, D. L., Pillemer, E., Levitt, L. J. <strong>Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.</strong> J. Clin. Invest. 83: 1747-1752, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2496147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2496147</a>] [<a href="https://doi.org/10.1172/JCI114076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2496147">Schleef et al. (1989)</a> concluded that the patient's bleeding diathesis was due to defective PAI1 and hyperfibrinolysis, supporting a role for PAI1 in control of vivo fibrinolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2496147" 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="#2" class="mim-tip-reference" title="Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D. <strong>Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation.</strong> New Eng. J. Med. 327: 1729-1733, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435917</a>] [<a href="https://doi.org/10.1056/NEJM199212103272406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1435917">Fay et al. (1992)</a> reported an Amish girl with PAI1 deficiency and bleeding tendency. <a href="#1" class="mim-tip-reference" title="Fay, W. P., Parker, A. C., Condrey, L. R., Shapiro, A. D. <strong>Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.</strong> Blood 90: 204-208, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207454</a>]" pmid="9207454">Fay et al. (1997)</a> identified 7 additional affected Amish individuals in the family of the proband reported by <a href="#2" class="mim-tip-reference" title="Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D. <strong>Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation.</strong> New Eng. J. Med. 327: 1729-1733, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435917</a>] [<a href="https://doi.org/10.1056/NEJM199212103272406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1435917">Fay et al. (1992)</a>. Clinical manifestations of complete PAI1 deficiency were restricted to abnormal bleeding only after trauma or surgery. Bleeding patterns included intracranial and joint bleeding after mild trauma, delayed surgical bleeding, severe menstrual bleeding, and frequent bruising. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, were effective in treating and preventing bleeding episodes. Other than abnormal bleeding, no significant developmental or other abnormalities were observed in homozygous PAI1-deficient individuals. Nineteen heterozygous individuals were also identified, and none had abnormal bleeding, even after trauma or surgery. These observations defined the clinical spectrum of PAI1 deficiency and suggested that the primary function of PAI1 is to regulate vascular fibrinolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1435917+9207454" 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="#4" class="mim-tip-reference" title="Minowa, H., Takahashi, Y., Tanaka, T., Naganuma, K., Ida, S., Maki, I., Yoshioka, A. <strong>Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.</strong> Haemostasis 29: 286-291, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10754381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10754381</a>] [<a href="https://doi.org/10.1159/000022514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10754381">Minowa et al. (1999)</a> reported 4 probands with PAI1 deficiency characterized by recurrent episodes of subcutaneous bleeding beginning in early childhood. Other bleeding episodes later occurred after trauma, tooth extraction, surgical procedures, or during menses. All had decreased PAI1 activity, and 3 had decreased PAI1 antigen as well. Euglobin lysis time was shorter than controls, indicating increased fibrinolysis. Treatment with tranexamic acid improved the hemorrhagic symptoms. Two probands had a family history consistent with autosomal dominant inheritance, including a Japanese family that was previously reported by <a href="#6" class="mim-tip-reference" title="Takahashi, Y., Tanaka, T., Minowa, H., Ookubo, Y., Sugimoto, M., Nakajima, M., Miyauchi, Y., Yoshioka, A. <strong>Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency.</strong> Int. J. Hemat. 64: 61-68, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757969</a>] [<a href="https://doi.org/10.1016/0925-5710(96)00460-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8757969">Takahashi et al. (1996)</a> with 'partial' PAI1 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10754381+8757969" 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="Zhang, Z. Y., Wang, Z. Y., Dong, N. Z., Bai, X., Zhang, W., Ruan, C. G. <strong>A case of deficiency of plasma plasminogen activator inhibitor-1 related to ala15thr mutation in its signal peptide.</strong> Blood Coagul. Fibrinolysis. 16: 79-84, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15650551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15650551</a>] [<a href="https://doi.org/10.1097/00001721-200501000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15650551">Zhang et al. (2005)</a> reported a Chinese man with a lifelong history of bleeding in response to trauma and surgery, including multiple hematomas. There was no history of spontaneous hemorrhage. Laboratory studies showed decreased activity and antigen levels of PAI1 to about 10% of normal controls. Genetic analysis identified a heterozygous mutation in the SERPINE1 gene (A15T; <a href="/entry/173360#0003">173360.0003</a>) inherited from his father. Although a second mutation was not identified in the maternal allele, the authors concluded that the patient likely had a heterozygous mutation in the noncoding region on this allele, since both clinically unaffected parents had moderately decreased PAI1 activity and antigen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15650551" 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 an Amish family with PAI1 deficiency, Fay et al. (<a href="#2" class="mim-tip-reference" title="Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D. <strong>Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation.</strong> New Eng. J. Med. 327: 1729-1733, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435917</a>] [<a href="https://doi.org/10.1056/NEJM199212103272406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1435917">1992</a>, <a href="#1" class="mim-tip-reference" title="Fay, W. P., Parker, A. C., Condrey, L. R., Shapiro, A. D. <strong>Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.</strong> Blood 90: 204-208, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207454</a>]" pmid="9207454">1997</a>) identified a homozygous frameshift mutation in the SERPINE1 gene (<a href="/entry/173360#0001">173360.0001</a>) resulting in complete absence of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1435917+9207454" 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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Fay, W. P., Parker, A. C., Condrey, L. R., Shapiro, A. D.
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<strong>Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.</strong>
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Blood 90: 204-208, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9207454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9207454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9207454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D.
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<strong>Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation.</strong>
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New Eng. J. Med. 327: 1729-1733, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1435917" 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/10.1056/NEJM199212103272406" target="_blank">Full Text</a>]
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<a id="Mehta2008" class="mim-anchor"></a>
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Mehta, R., Shapiro, A. D.
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<strong>Plasminogen activator inhibitor type 1 deficiency.</strong>
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Haemophilia 14: 1255-1260, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19141166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19141166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19141166" 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.1365-2516.2008.01834.x" target="_blank">Full Text</a>]
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<a id="Minowa1999" class="mim-anchor"></a>
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Minowa, H., Takahashi, Y., Tanaka, T., Naganuma, K., Ida, S., Maki, I., Yoshioka, A.
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<strong>Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.</strong>
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Haemostasis 29: 286-291, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10754381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10754381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10754381" 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/10.1159/000022514" target="_blank">Full Text</a>]
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Schleef, R. R., Higgins, D. L., Pillemer, E., Levitt, L. J.
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<strong>Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.</strong>
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J. Clin. Invest. 83: 1747-1752, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2496147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2496147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2496147" 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/10.1172/JCI114076" target="_blank">Full Text</a>]
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Takahashi, Y., Tanaka, T., Minowa, H., Ookubo, Y., Sugimoto, M., Nakajima, M., Miyauchi, Y., Yoshioka, A.
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<strong>Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency.</strong>
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Int. J. Hemat. 64: 61-68, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8757969" 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/10.1016/0925-5710(96)00460-4" target="_blank">Full Text</a>]
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Zhang, Z. Y., Wang, Z. Y., Dong, N. Z., Bai, X., Zhang, W., Ruan, C. G.
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<strong>A case of deficiency of plasma plasminogen activator inhibitor-1 related to ala15thr mutation in its signal peptide.</strong>
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Blood Coagul. Fibrinolysis. 16: 79-84, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15650551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15650551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15650551" 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/10.1097/00001721-200501000-00013" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 3/30/2010
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carol : 10/21/2016
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carol : 04/01/2010<br>ckniffin : 3/30/2010
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<strong>#</strong> 613329
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PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
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HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY
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<strong>ORPHA:</strong> 465;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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7q22.1
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Plasminogen activator inhibitor-1 deficiency
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613329
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Autosomal dominant; Autosomal recessive
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3
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PAI1
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173360
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<p>A number sign (#) is used with this entry because plasminogen activator inhibitor-1 (PAI1) deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene (173360) on chromosome 7q22.</p>
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<strong>Description</strong>
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<p>Plasminogen inhibitor-1 deficiency is a rare autosomal recessive hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of PAI1, which inhibits tissue (PLAT; 173370) and urinary (PLAU; 191840) activators of plasminogen (PLG; 173350) (review by Mehta and Shapiro, 2008). </p>
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<strong>Clinical Features</strong>
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<p>Schleef et al. (1989) reported an elderly man with a history of lifelong severe bleeding after surgery or trauma and with evidence of persistent increased fibrinolysis. Laboratory studies showed decreased binding of plasminogen activator inhibitor to radiolabeled tissue plasminogen activator (t-PA). Low patient PAI1 activity was confirmed in serum and in platelet lysates, although PAI1 antigen levels were in the normal range. Schleef et al. (1989) concluded that the patient's bleeding diathesis was due to defective PAI1 and hyperfibrinolysis, supporting a role for PAI1 in control of vivo fibrinolysis. </p><p>Fay et al. (1992) reported an Amish girl with PAI1 deficiency and bleeding tendency. Fay et al. (1997) identified 7 additional affected Amish individuals in the family of the proband reported by Fay et al. (1992). Clinical manifestations of complete PAI1 deficiency were restricted to abnormal bleeding only after trauma or surgery. Bleeding patterns included intracranial and joint bleeding after mild trauma, delayed surgical bleeding, severe menstrual bleeding, and frequent bruising. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, were effective in treating and preventing bleeding episodes. Other than abnormal bleeding, no significant developmental or other abnormalities were observed in homozygous PAI1-deficient individuals. Nineteen heterozygous individuals were also identified, and none had abnormal bleeding, even after trauma or surgery. These observations defined the clinical spectrum of PAI1 deficiency and suggested that the primary function of PAI1 is to regulate vascular fibrinolysis. </p><p>Minowa et al. (1999) reported 4 probands with PAI1 deficiency characterized by recurrent episodes of subcutaneous bleeding beginning in early childhood. Other bleeding episodes later occurred after trauma, tooth extraction, surgical procedures, or during menses. All had decreased PAI1 activity, and 3 had decreased PAI1 antigen as well. Euglobin lysis time was shorter than controls, indicating increased fibrinolysis. Treatment with tranexamic acid improved the hemorrhagic symptoms. Two probands had a family history consistent with autosomal dominant inheritance, including a Japanese family that was previously reported by Takahashi et al. (1996) with 'partial' PAI1 deficiency. </p><p>Zhang et al. (2005) reported a Chinese man with a lifelong history of bleeding in response to trauma and surgery, including multiple hematomas. There was no history of spontaneous hemorrhage. Laboratory studies showed decreased activity and antigen levels of PAI1 to about 10% of normal controls. Genetic analysis identified a heterozygous mutation in the SERPINE1 gene (A15T; 173360.0003) inherited from his father. Although a second mutation was not identified in the maternal allele, the authors concluded that the patient likely had a heterozygous mutation in the noncoding region on this allele, since both clinically unaffected parents had moderately decreased PAI1 activity and antigen. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of an Amish family with PAI1 deficiency, Fay et al. (1992, 1997) identified a homozygous frameshift mutation in the SERPINE1 gene (173360.0001) resulting in complete absence of the protein. </p>
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<strong>REFERENCES</strong>
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Fay, W. P., Parker, A. C., Condrey, L. R., Shapiro, A. D.
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<strong>Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.</strong>
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Blood 90: 204-208, 1997.
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[PubMed: 9207454]
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Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D.
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<strong>Complete deficiency of plasminogen-activator inhibitor type I due to a frameshift mutation.</strong>
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New Eng. J. Med. 327: 1729-1733, 1992.
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[PubMed: 1435917]
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[Full Text: https://doi.org/10.1056/NEJM199212103272406]
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Mehta, R., Shapiro, A. D.
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<strong>Plasminogen activator inhibitor type 1 deficiency.</strong>
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Haemophilia 14: 1255-1260, 2008.
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[PubMed: 19141166]
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[Full Text: https://doi.org/10.1111/j.1365-2516.2008.01834.x]
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Minowa, H., Takahashi, Y., Tanaka, T., Naganuma, K., Ida, S., Maki, I., Yoshioka, A.
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<strong>Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.</strong>
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Haemostasis 29: 286-291, 1999.
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[PubMed: 10754381]
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[Full Text: https://doi.org/10.1159/000022514]
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<p class="mim-text-font">
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Schleef, R. R., Higgins, D. L., Pillemer, E., Levitt, L. J.
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<strong>Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.</strong>
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J. Clin. Invest. 83: 1747-1752, 1989.
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[PubMed: 2496147]
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[Full Text: https://doi.org/10.1172/JCI114076]
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Takahashi, Y., Tanaka, T., Minowa, H., Ookubo, Y., Sugimoto, M., Nakajima, M., Miyauchi, Y., Yoshioka, A.
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<strong>Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency.</strong>
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Int. J. Hemat. 64: 61-68, 1996.
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[PubMed: 8757969]
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[Full Text: https://doi.org/10.1016/0925-5710(96)00460-4]
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Zhang, Z. Y., Wang, Z. Y., Dong, N. Z., Bai, X., Zhang, W., Ruan, C. G.
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<strong>A case of deficiency of plasma plasminogen activator inhibitor-1 related to ala15thr mutation in its signal peptide.</strong>
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Blood Coagul. Fibrinolysis. 16: 79-84, 2005.
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[PubMed: 15650551]
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[Full Text: https://doi.org/10.1097/00001721-200501000-00013]
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Creation Date:
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<span class="mim-text-font">
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Cassandra L. Kniffin : 3/30/2010
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carol : 10/21/2016<br>carol : 04/01/2010<br>ckniffin : 3/30/2010
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