2911 lines
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Entry
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- #147480 - CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
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- OMIM
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<p>
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<span class="h4">#147480</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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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/147480"><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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#populationGenetics">Population 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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=(CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY) OR (ATP8B1)" 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=10933&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.diseaseinfosearch.org/x/1348" 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/intrahepatic-cholestasis-of-pregnancy" 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=147480[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=69665" 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 class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070228" 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/147480" 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://wormbase.org/resources/disease/DOID:0070228" 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>ORPHA:</strong> 69665<br />
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<strong>DO:</strong> 0070228<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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147480
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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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CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
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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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<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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CHOLESTASIS, PREGNANCY-RELATED, 1
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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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<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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</th>
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</thead>
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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/18/208?start=-3&limit=10&highlight=208">
|
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18q21.31
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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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Cholestasis, intrahepatic, of pregnancy, 1
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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/147480"> 147480 </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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<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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ATP8B1
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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/602397"> 602397 </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/147480" 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>
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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/147480" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/147480" 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>
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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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</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> ABDOMEN </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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<div>
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<span class="h5 mim-font">
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<em> Liver </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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- Intrahepatic cholestasis during pregnancy, resolves postpartum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750653</a>]</span><br /> -
|
|
Abnormal liver function tests during pregnancy, resolves postpartum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200148</a>]</span><br /> -
|
|
Hepatic fibrosis seen on biopsy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549847</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br /> -
|
|
Ductal proliferation seen on biopsy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549848</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">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pruritus during pregnancy, resolves postpartum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750656</a>]</span><br /> -
|
|
Jaundice (in some patients), resolved postpartum<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>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Movement </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fetal distress <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015930&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015930</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025116" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025116</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025116" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025116</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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<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Premature delivery <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282020008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282020008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161765003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161765003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/644.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">644.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151526</a>, <a href="https://bioportal.bioontology.org/search?q=C0438076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span><br /> -
|
|
Intrauterine fetal death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276507005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276507005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237364002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237364002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P95</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015927</a>, <a href="https://bioportal.bioontology.org/search?q=C0595939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595939</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003826" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003826</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034241</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">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Abnormal liver function tests during pregnancy, resolves postpartum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200148</a>]</span><br /> -
|
|
Increased serum bile acid concentration during pregnancy, resolves postpartum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750655</a>]</span><br />
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|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Occurs during pregnancy, most often in the third trimester<br /> -
|
|
No chronic or permanent liver damage<br /> -
|
|
Oral contraceptives may also cause symptoms<br />
|
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|
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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">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, <a href="/entry/602397#0010">602397.0010</a>)<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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|
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<div class="text-right">
|
|
<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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<div>
|
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<br />
|
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</div>
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<div>
|
|
<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.">
|
|
<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 intrahepatic cholestasis of pregnancy-1 (ICP1) can be caused by heterozygous mutation in the ATP8B1 gene (<a href="/entry/602397">602397</a>) on chromosome 18q21.</p><p>Mutation in the ATP8B1 gene can also cause progressive familial intrahepatic cholestasis-1 (PFIC1; <a href="/entry/211600">211600</a>) and benign recurrent intrahepatic cholestasis-1 (BRIC1; <a href="/entry/243300">243300</a>).</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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<p>Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by <a href="#10" class="mim-tip-reference" title="Pasmant, E., Goussard, P., Baranes, L., Laurendeau, I., Quentin, S., Ponsot, P., Consigny, Y., Farges, O., Condat, B., Vidaud, D., Vidaud, M., Chen, J.-M., Parfait, B. <strong>First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.</strong> Europ. J. Hum. Genet. 20: 277-282, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21989363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21989363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21989363[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/10.1038/ejhg.2011.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21989363">Pasmant et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21989363" 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><strong><em>Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy</em></strong></p><p>
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See also ICP3 (<a href="/entry/614972">614972</a>), caused by mutation in the ABCB4 gene (<a href="/entry/171060">171060</a>).</p>
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<p>Intrahepatic cholestasis of pregnancy was reported in sisters by <a href="#16" class="mim-tip-reference" title="Svanborg, A., Ohlsson, S. <strong>Recurrent jaundice of pregnancy: a clinical study of twenty-two cases.</strong> Am. J. Med. 27: 40-49, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13661186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13661186</a>] [<a href="https://doi.org/10.1016/0002-9343(59)90059-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13661186">Svanborg and Ohlsson (1959)</a>, <a href="#1" class="mim-tip-reference" title="Cahill, K. M. <strong>Hepatitis in pregnancy.</strong> Surg. Gynec. Obstet. 114: 545-552, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13875565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13875565</a>]" pmid="13875565">Cahill (1962)</a>, and <a href="#3" class="mim-tip-reference" title="Fast, B. B., Roulston, T. M. <strong>Idiopathic jaundice of pregnancy.</strong> Am. J. Obstet. Gynec. 88: 314-321, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14123402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14123402</a>] [<a href="https://doi.org/10.1016/0002-9378(64)90425-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14123402">Fast and Roulston (1964)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13875565+13661186+14123402" 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="Holzbach, R. T., Sanders, J. H. <strong>Recurrent intrahepatic cholestasis of pregnancy: observations on pathogenesis.</strong> JAMA 193: 542-544, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14326722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14326722</a>] [<a href="https://doi.org/10.1001/jama.1965.03090060132017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14326722">Holzbach and Sanders (1965)</a> reported a mother and 2 daughters with recurrent ICP characterized by generalized itching, with or without jaundice, during pregnancy. The disorder began primarily in the third trimester and disappeared shortly postpartum. There was no biliary colic, no jaundice or pruritus between pregnancies, and no chronic liver disease. <a href="#6" class="mim-tip-reference" title="Holzbach, R. T., Sivak, D. A., Braun, W. E. <strong>Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait.</strong> Gastroenterology 85: 175-179, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6852450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6852450</a>]" pmid="6852450">Holzbach et al. (1983)</a> updated the pedigree. In all, there were 5 affected women in 4 sibships spanning 3 generations. The authors favored female-limited autosomal dominant inheritance. A male transmitted the disorder from his mother to his daughter. During periods between pregnancies, the trait could be demonstrated by an oral steroid hormone challenge test or by use of oral contraceptives. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14326722+6852450" 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="#15" class="mim-tip-reference" title="Somayaji, B. N., Paton, A., Price, J. H., Harris, A. W., Flewett, T. H. <strong>Norethisterone jaundice in two sisters.</strong> Brit. Med. J. 2: 281-283, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4296504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4296504</a>] [<a href="https://doi.org/10.1136/bmj.2.5600.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4296504">Somayaji et al. (1968)</a> reported sisters who developed cholestatic jaundice following the taking of an oral contraceptive agent. One of them had had pruritus during the latter part of each of 3 pregnancies. <a href="#7" class="mim-tip-reference" title="McKusick, V. A., Clayton, R. J. <strong>Cholestasis of pregnancy. (Letter)</strong> New Eng. J. Med. 278: 566 only, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5637248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5637248</a>]" pmid="5637248">McKusick and Clayton (1968)</a> observed that mothers of patients with PFIC1 had severe pruritus in late pregnancy, raising the possibility that cholestasis of pregnancy may be a manifestation of the heterozygous state of the gene which in the homozygote produces a fatal form of cholestasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5637248+4296504" 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="#12" class="mim-tip-reference" title="Reyes, H., Gonzalez, M. C., Ribalta, J., Aburto, H., Matus, C., Schramm, G., Katz, R., Medina, E. <strong>Prevalence of intrahepatic cholestasis of pregnancy in Chile.</strong> Ann. Intern. Med. 88: 487-493, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/637428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">637428</a>] [<a href="https://doi.org/10.7326/0003-4819-88-4-487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="637428">Reyes et al. (1978)</a> and <a href="#11" class="mim-tip-reference" title="Reyes, H. <strong>The enigma of intrahepatic cholestasis of pregnancy: lessons from Chile.</strong> Hepatology 2: 87-96, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7054071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7054071</a>] [<a href="https://doi.org/10.1002/hep.1840020114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7054071">Reyes (1982)</a> reported that ICP is frequent in the Araucanian Indians of Chile. <a href="#13" class="mim-tip-reference" title="Reyes, H., Ribalta, J., Gonzalez-Ceron, M. <strong>Idiopathic cholestasis of pregnancy in a large kindred.</strong> Gut 17: 709-713, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/976812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">976812</a>] [<a href="https://doi.org/10.1136/gut.17.9.709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="976812">Reyes et al. (1976)</a> reported a large kindred from Chile in which 10 of 32 multiparous women in the last 2 generations had ICP. There were 2 probable instances of males who transmitted the disorder to a daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=976812+637428+7054071" 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><a href="#4" class="mim-tip-reference" title="Hirvioja, M.-L., Kivinen, S. <strong>Inheritance of intrahepatic cholestasis of pregnancy in one kindred.</strong> Clin. Genet. 43: 315-317, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8370153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8370153</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03826.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8370153">Hirvioja and Kivinen (1993)</a> reported 3 sisters with ICP, which was observed in 5 successive generations of their family. Most of the patients also had cholelithiasis. Uniform expression, complete penetrance, and direct parent-to-child transmission supported dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8370153" 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 4 of 182 unrelated patients with ICP1, <a href="#8" class="mim-tip-reference" title="Mullenbach, R., Bennett, A., Tetlow, N., Patel, N., Hamilton, G., Cheng, F., Chambers, J., Howard, R., Taylor-Robinson, S. D., Williamson, C. <strong>ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.</strong> Gut 54: 829-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15888793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15888793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15888793[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/gut.2004.058115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15888793">Mullenbach et al. (2005)</a> identified heterozygous mutations in the ATP8B1 gene (<a href="/entry/602397#0010">602397.0010</a>; <a href="/entry/602397#0011">602397.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15888793" 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="#14" class="mim-tip-reference" title="Savander, M., Ropponen, A., Avela, K., Weerasekera, N., Cormand, B., Hirvioja, M.-L., Riikonen, S., Ylikorkala, O., Lehesjoki, A.-E., Williamson, C., Aittomaki, K. <strong>Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.</strong> Gut 52: 1025-1029, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12801961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12801961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12801961[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/gut.52.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12801961">Savander et al. (2003)</a> prospectively interviewed 69 Finnish patients with ICP for a family history of the disorder; 11 of the patients were found to have familial ICP and 58 had sporadic ICP. The pedigree structures in 16% (11 of 69) patients suggested dominant inheritance. Patients with familial ICP had higher serum amino transferase levels and a higher recurrence risk (92% vs 40%). Haplotype and multipoint linkage analysis excluded the ABCB11 (<a href="/entry/603201">603201</a>), ATP8B1, and the ABCB4 genes in 2 pedigrees. <a href="#14" class="mim-tip-reference" title="Savander, M., Ropponen, A., Avela, K., Weerasekera, N., Cormand, B., Hirvioja, M.-L., Riikonen, S., Ylikorkala, O., Lehesjoki, A.-E., Williamson, C., Aittomaki, K. <strong>Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy.</strong> Gut 52: 1025-1029, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12801961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12801961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12801961[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/gut.52.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12801961">Savander et al. (2003)</a> concluded that ICP is genetically heterogeneous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12801961" 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 a large screening of the ATP8B1 gene in 176 familial and sporadic patients with ICP, <a href="#9" class="mim-tip-reference" title="Painter, J. N., Savander, M., Ropponen, A., Nupponen, N., Riikonen, S., Ylikorkala, O., Lehesjoki, A.-E., Aittomaki, K. <strong>Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.</strong> Europ. J. Hum. Genet. 13: 435-439, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657619</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657619">Painter et al. (2005)</a> concluded that ATP8B1 is probably not a major gene contributing to the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15657619" 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>ICP affects approximately 0.5 to 0.7% of all pregnancies in the UK (<a href="#8" class="mim-tip-reference" title="Mullenbach, R., Bennett, A., Tetlow, N., Patel, N., Hamilton, G., Cheng, F., Chambers, J., Howard, R., Taylor-Robinson, S. D., Williamson, C. <strong>ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.</strong> Gut 54: 829-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15888793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15888793</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15888793[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/gut.2004.058115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15888793">Mullenbach et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15888793" 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="#dePagter1976" class="mim-tip-reference" title="dePagter, A. G. F., vanBerge Henegouwen, G. P., ten Bokkel Huinink, J. A., Brandt, K.-H. <strong>Familial benign recurrent intrahepatic cholestasis: interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives?</strong> Gastroenterology 71: 202-207, 1976.">dePagter et al. (1976)</a>
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dePagter, A. G. F., vanBerge Henegouwen, G. P., ten Bokkel Huinink, J. A., Brandt, K.-H.
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<strong>Familial benign recurrent intrahepatic cholestasis: interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives?</strong>
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[<a href="https://doi.org/10.1016/0002-9378(64)90425-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03826.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/jama.1965.03090060132017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/gut.2004.058115" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201355" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/hep.1840020114" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-88-4-487" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/gut.17.9.709" target="_blank">Full Text</a>]
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Savander, M., Ropponen, A., Avela, K., Weerasekera, N., Cormand, B., Hirvioja, M.-L., Riikonen, S., Ylikorkala, O., Lehesjoki, A.-E., Williamson, C., Aittomaki, K.
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[<a href="https://doi.org/10.1136/gut.52.7.1025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.2.5600.281" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(59)90059-2" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 12/6/2012
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Cassandra L. Kniffin - updated : 1/25/2010<br>Cassandra L. Kniffin - reorganized : 6/15/2006<br>Cassandra L. Kniffin - updated : 2/27/2006<br>Victor A. McKusick - updated : 1/20/2004<br>Victor A. McKusick - updated : 10/22/2003<br>George E. Tiller - updated : 6/8/2000<br>Victor A. McKusick - updated : 2/19/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 03/15/2013
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terry : 12/17/2012<br>carol : 12/7/2012<br>ckniffin : 12/6/2012<br>joanna : 2/3/2010<br>wwang : 2/1/2010<br>ckniffin : 1/25/2010<br>terry : 6/3/2009<br>carol : 12/2/2008<br>carol : 6/15/2006<br>ckniffin : 6/6/2006<br>ckniffin : 2/27/2006<br>cwells : 1/22/2004<br>terry : 1/20/2004<br>tkritzer : 10/27/2003<br>terry : 10/22/2003<br>alopez : 6/8/2000<br>carol : 11/8/1999<br>carol : 2/22/1999<br>terry : 2/19/1999<br>mimadm : 11/5/1994<br>davew : 7/13/1994<br>carol : 11/10/1993<br>carol : 11/9/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 147480
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<h3>
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CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
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</h3>
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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CHOLESTASIS, PREGNANCY-RELATED, 1
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<strong>ORPHA:</strong> 69665;
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<strong>DO:</strong> 0070228;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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18q21.31
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<span class="mim-font">
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Cholestasis, intrahepatic, of pregnancy, 1
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<span class="mim-font">
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147480
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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ATP8B1
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<span class="mim-font">
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602397
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<strong>TEXT</strong>
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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 intrahepatic cholestasis of pregnancy-1 (ICP1) can be caused by heterozygous mutation in the ATP8B1 gene (602397) on chromosome 18q21.</p><p>Mutation in the ATP8B1 gene can also cause progressive familial intrahepatic cholestasis-1 (PFIC1; 211600) and benign recurrent intrahepatic cholestasis-1 (BRIC1; 243300).</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). </p><p><strong><em>Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy</em></strong></p><p>
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See also ICP3 (614972), caused by mutation in the ABCB4 gene (171060).</p>
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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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<span class="mim-text-font">
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<p>Intrahepatic cholestasis of pregnancy was reported in sisters by Svanborg and Ohlsson (1959), Cahill (1962), and Fast and Roulston (1964). </p><p>Holzbach and Sanders (1965) reported a mother and 2 daughters with recurrent ICP characterized by generalized itching, with or without jaundice, during pregnancy. The disorder began primarily in the third trimester and disappeared shortly postpartum. There was no biliary colic, no jaundice or pruritus between pregnancies, and no chronic liver disease. Holzbach et al. (1983) updated the pedigree. In all, there were 5 affected women in 4 sibships spanning 3 generations. The authors favored female-limited autosomal dominant inheritance. A male transmitted the disorder from his mother to his daughter. During periods between pregnancies, the trait could be demonstrated by an oral steroid hormone challenge test or by use of oral contraceptives. </p><p>Somayaji et al. (1968) reported sisters who developed cholestatic jaundice following the taking of an oral contraceptive agent. One of them had had pruritus during the latter part of each of 3 pregnancies. McKusick and Clayton (1968) observed that mothers of patients with PFIC1 had severe pruritus in late pregnancy, raising the possibility that cholestasis of pregnancy may be a manifestation of the heterozygous state of the gene which in the homozygote produces a fatal form of cholestasis. </p><p>Reyes et al. (1978) and Reyes (1982) reported that ICP is frequent in the Araucanian Indians of Chile. Reyes et al. (1976) reported a large kindred from Chile in which 10 of 32 multiparous women in the last 2 generations had ICP. There were 2 probable instances of males who transmitted the disorder to a daughter. </p>
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</span>
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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>Hirvioja and Kivinen (1993) reported 3 sisters with ICP, which was observed in 5 successive generations of their family. Most of the patients also had cholelithiasis. Uniform expression, complete penetrance, and direct parent-to-child transmission supported 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>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 4 of 182 unrelated patients with ICP1, Mullenbach et al. (2005) identified heterozygous mutations in the ATP8B1 gene (602397.0010; 602397.0011). </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>Heterogeneity</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><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Savander et al. (2003) prospectively interviewed 69 Finnish patients with ICP for a family history of the disorder; 11 of the patients were found to have familial ICP and 58 had sporadic ICP. The pedigree structures in 16% (11 of 69) patients suggested dominant inheritance. Patients with familial ICP had higher serum amino transferase levels and a higher recurrence risk (92% vs 40%). Haplotype and multipoint linkage analysis excluded the ABCB11 (603201), ATP8B1, and the ABCB4 genes in 2 pedigrees. Savander et al. (2003) concluded that ICP is genetically heterogeneous. </p><p>In a large screening of the ATP8B1 gene in 176 familial and sporadic patients with ICP, Painter et al. (2005) concluded that ATP8B1 is probably not a major gene contributing to the disorder. </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>Population 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>ICP affects approximately 0.5 to 0.7% of all pregnancies in the UK (Mullenbach et al., 2005). </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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dePagter et al. (1976)
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cahill, K. M.
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<strong>Hepatitis in pregnancy.</strong>
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Surg. Gynec. Obstet. 114: 545-552, 1962.
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[PubMed: 13875565]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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dePagter, A. G. F., vanBerge Henegouwen, G. P., ten Bokkel Huinink, J. A., Brandt, K.-H.
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<strong>Familial benign recurrent intrahepatic cholestasis: interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives?</strong>
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Gastroenterology 71: 202-207, 1976.
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[PubMed: 939378]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fast, B. B., Roulston, T. M.
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<strong>Idiopathic jaundice of pregnancy.</strong>
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Am. J. Obstet. Gynec. 88: 314-321, 1964.
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[PubMed: 14123402]
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[Full Text: https://doi.org/10.1016/0002-9378(64)90425-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hirvioja, M.-L., Kivinen, S.
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<strong>Inheritance of intrahepatic cholestasis of pregnancy in one kindred.</strong>
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Clin. Genet. 43: 315-317, 1993.
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[PubMed: 8370153]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03826.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Holzbach, R. T., Sanders, J. H.
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<strong>Recurrent intrahepatic cholestasis of pregnancy: observations on pathogenesis.</strong>
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JAMA 193: 542-544, 1965.
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[PubMed: 14326722]
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[Full Text: https://doi.org/10.1001/jama.1965.03090060132017]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Holzbach, R. T., Sivak, D. A., Braun, W. E.
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<strong>Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait.</strong>
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Gastroenterology 85: 175-179, 1983.
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[PubMed: 6852450]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McKusick, V. A., Clayton, R. J.
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<strong>Cholestasis of pregnancy. (Letter)</strong>
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New Eng. J. Med. 278: 566 only, 1968.
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[PubMed: 5637248]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mullenbach, R., Bennett, A., Tetlow, N., Patel, N., Hamilton, G., Cheng, F., Chambers, J., Howard, R., Taylor-Robinson, S. D., Williamson, C.
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<strong>ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.</strong>
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Gut 54: 829-834, 2005.
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[PubMed: 15888793]
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[Full Text: https://doi.org/10.1136/gut.2004.058115]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pasmant, E., Goussard, P., Baranes, L., Laurendeau, I., Quentin, S., Ponsot, P., Consigny, Y., Farges, O., Condat, B., Vidaud, D., Vidaud, M., Chen, J.-M., Parfait, B.
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<strong>First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.</strong>
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Reyes, H.
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<strong>The enigma of intrahepatic cholestasis of pregnancy: lessons from Chile.</strong>
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Hepatology 2: 87-96, 1982.
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Reyes, H., Gonzalez, M. C., Ribalta, J., Aburto, H., Matus, C., Schramm, G., Katz, R., Medina, E.
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<strong>Prevalence of intrahepatic cholestasis of pregnancy in Chile.</strong>
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Reyes, H., Ribalta, J., Gonzalez-Ceron, M.
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<strong>Idiopathic cholestasis of pregnancy in a large kindred.</strong>
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Gut 17: 709-713, 1976.
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Savander, M., Ropponen, A., Avela, K., Weerasekera, N., Cormand, B., Hirvioja, M.-L., Riikonen, S., Ylikorkala, O., Lehesjoki, A.-E., Williamson, C., Aittomaki, K.
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Somayaji, B. N., Paton, A., Price, J. H., Harris, A. W., Flewett, T. H.
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<strong>Norethisterone jaundice in two sisters.</strong>
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Svanborg, A., Ohlsson, S.
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<strong>Recurrent jaundice of pregnancy: a clinical study of twenty-two cases.</strong>
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