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Entry
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- #243300 - CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
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- OMIM
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<p>
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<span class="h4">#243300</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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<li role="presentation">
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<a href="/clinicalSynopsis/243300"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS243300"> <strong>Phenotypic Series</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="#otherFeatures">Other Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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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>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10872&Typ=Pat" title="Benign recurrent intrahepatic cholestasis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Benign recurrent intrahepa… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14533&Typ=Pat" title="Benign recurrent intrahepatic cholestasis type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Benign recurrent intrahepa… </a></div>
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</div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">ATP8B1 Deficiency</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK584020/" title="Pediatric Genetic Cholestatic Liver Disease Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Pediatric Genetic Cholesta…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/800" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=243300[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65682" title="Benign recurrent intrahepatic cholestasis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Benign recurrent intrahepa…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99960" title="Benign recurrent intrahepatic cholestasis type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Benign recurrent intrahepa…</a></div>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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</a>
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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:0070231" 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/243300" 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:0070231" 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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<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> 65682, 99960<br />
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<strong>DO:</strong> 0070231<br />
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">ICD+</a>
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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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243300
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
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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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<h4>
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<span class="mim-font">
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SUMMERSKILL SYNDROME
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</span>
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</h4>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</h4>
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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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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
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/208?start=-3&limit=10&highlight=208">
|
|
18q21.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cholestasis, benign recurrent intrahepatic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/243300"> 243300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATP8B1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602397"> 602397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/243300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
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|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS243300" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/243300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/243300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrahepatic cholestasis, episodic, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673472</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4637005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4637005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001406</a>]</span><br /> -
|
|
Jaundice, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676429</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br /> -
|
|
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Progression to end-stage liver disease does not occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676431</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaundice, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676429</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br /> -
|
|
Pruritus, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676434</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418290006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418290006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418363000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418363000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424492005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424492005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L29.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000989</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Normal or mildly increased serum gamma-GGT (<a href="/entry/231950">231950</a>)<br /> -
|
|
Conjugated hyperbilirubinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9326001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9326001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268307</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002908</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002908</a>]</span><br /> -
|
|
Increased serum bile acids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676433</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis<br /> -
|
|
Variable age at onset, range from infancy to adulthood<br /> -
|
|
Variable frequency and severity<br /> -
|
|
Allelic disorder to progressive familial intrahepatic cholestasis-1 (PFIC1, <a href="/entry/211600">211600</a>)<br /> -
|
|
Allelic disorder to intrahepatic cholestasis of pregnancy (ICP, <a href="/entry/147480">147480</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, <a href="/entry/602397#0006">602397.0006</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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Cholestasis, benign recurrent intrahepatic
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<a href="/entry/605479"> Cholestasis, benign recurrent intrahepatic, 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/603201"> ABCB11 </a>
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<a href="/entry/243300"> Cholestasis, benign recurrent intrahepatic </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/243300"> 243300 </a>
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<a href="/entry/602397"> ATP8B1 </a>
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<a href="/entry/602397"> 602397 </a>
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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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<p>A number sign (#) is used with this entry because benign recurrent intrahepatic cholestasis-1 (BRIC1) is caused by homozygous or compound heterozygous mutation in the ATP8B1 gene (<a href="/entry/602397">602397</a>) on chromosome 18q. Some patients may have a heterozygous mutation.</p><p>Progressive familial intrahepatic cholestasis-1 (PFIC1; <a href="/entry/211600">211600</a>) and intrahepatic cholestasis of pregnancy-1 (ICP1; <a href="/entry/147480">147480</a>) are allelic disorders.</p>
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<p>Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (<a href="#15" class="mim-tip-reference" title="Summerskill, W. H. J., Walshe, J. M. <strong>Benign recurrent intrahepatic 'obstructive' jaundice.</strong> Lancet 274: 686-690, 1959. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13835689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13835689</a>] [<a href="https://doi.org/10.1016/s0140-6736(59)92128-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13835689">Summerskill and Walshe, 1959</a>; <a href="#13" class="mim-tip-reference" title="Schapiro, R. H., Isselbacher, R. J. <strong>Benign recurrent intrahepatic cholestasis.</strong> New Eng. J. Med. 268: 708-711, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13976702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13976702</a>] [<a href="https://doi.org/10.1056/NEJM196303282681305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13976702">Schapiro and Isselbacher, 1963</a>; <a href="#3" class="mim-tip-reference" title="Brenard, R., Geubel, A. P., Benhamou, J. P. <strong>Benign recurrent intrahepatic cholestasis: a report of 26 cases.</strong> J. Clin. Gastroent. 11: 546-551, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2794432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2794432</a>] [<a href="https://doi.org/10.1097/00004836-198910000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2794432">Brenard et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13835689+2794432+13976702" 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="#18" class="mim-tip-reference" title="Tygstrup, N., Steig, B. A., Juijn, J. A., Bull, L. N., Houwen, R. H. J. <strong>Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity.</strong> Hepatology 29: 506-508, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9918928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9918928</a>] [<a href="https://doi.org/10.1002/hep.510290214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9918928">Tygstrup et al. (1999)</a> stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9918928" 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 Benign Recurrent Intrahepatic Cholestasis</em></strong></p><p>
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See also BRIC2 (<a href="/entry/605479">605479</a>), caused by mutation in the ABCB11 gene (<a href="/entry/603201">603201</a>) on chromosome 2q24.</p>
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<p><a href="#15" class="mim-tip-reference" title="Summerskill, W. H. J., Walshe, J. M. <strong>Benign recurrent intrahepatic 'obstructive' jaundice.</strong> Lancet 274: 686-690, 1959. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13835689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13835689</a>] [<a href="https://doi.org/10.1016/s0140-6736(59)92128-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13835689">Summerskill and Walshe (1959)</a> reported 2 unrelated patients with recurrent intrahepatic cholestasis. <a href="#9" class="mim-tip-reference" title="Kuhn, H. A. <strong>Intrahepatic cholestasis in two brothers.</strong> German Med. Monthly 8: 185-188, 1963."None>Kuhn (1963)</a> described 2 teenaged brothers who had repeated attacks of jaundice accompanied by itching and hepatomegaly. Progression to biliary cirrhosis was suspected in one. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13835689" 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="#16" class="mim-tip-reference" title="Tygstrup, N. <strong>Intermittent possibly familial intrahepatic cholestatic jaundice.</strong> Lancet 275: 1171-1172, 1960. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13840084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13840084</a>] [<a href="https://doi.org/10.1016/s0140-6736(60)91045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13840084">Tygstrup (1960)</a> described the condition in 2 distantly related 15-year-old boys living in a small village in the Faroe Islands. Onset in these patients was in the first 2 years of life. Cholestasis was demonstrated by liver biopsy and direct cholangiography. <a href="#17" class="mim-tip-reference" title="Tygstrup, N., Jensen, B. <strong>Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands.</strong> Acta Med. Scand. 185: 523-530, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5807632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5807632</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1969.tb07378.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5807632">Tygstrup and Jensen (1969)</a> described intermittent intrahepatic cholestasis in 5 young males from the Faroe Islands. The disorder was characterized by recurrent attacks of pruritus and jaundice. During disease-free intervals, which lasted for months or years, no clinical or biochemical indication of cholestasis was found. <a href="#18" class="mim-tip-reference" title="Tygstrup, N., Steig, B. A., Juijn, J. A., Bull, L. N., Houwen, R. H. J. <strong>Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity.</strong> Hepatology 29: 506-508, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9918928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9918928</a>] [<a href="https://doi.org/10.1002/hep.510290214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9918928">Tygstrup et al. (1999)</a> reported a follow-up 30 years later on the 5 patients in the original report and described 5 additional patients from the Faroe Islands. Progression to chronic liver disease had not occurred. The episodes of cholestasis tended to reduce in frequency with age. The youngest patient, aged 25 years, who had had 16 episodes lasting about 6 months each, had a liver transplant after which no further episodes were recorded 1 year after surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9918928+5807632+13840084" 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="#11" class="mim-tip-reference" title="Minuk, G. Y., Shaffer, E. A. <strong>Benign recurrent intrahepatic cholestasis: evidence for an intrinsic abnormality in hepatocyte secretion.</strong> Gastroenterology 93: 1187-1193, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3678736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3678736</a>]" pmid="3678736">Minuk and Shaffer (1987)</a> studied a man who developed severe pruritus followed by jaundice and thereafter had 5 episodes, each of 3 or 4 months' duration, during the next 8 years. A brother and sister also had episodes of pruritus followed by jaundice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3678736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="De Koning, T. J., Sandkuijl, L. A., De Schryver, J. E. A. R., Hennekam, E. A. M., Beemer, F. A., Houwen, R. H. J. <strong>Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.</strong> Am. J. Med. Genet. 57: 479-482, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677155</a>] [<a href="https://doi.org/10.1002/ajmg.1320570324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7677155">De Koning et al. (1995)</a> provided full pedigree and clinical information on a large kindred with BRIC reported by <a href="#8" class="mim-tip-reference" title="Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., Freimer, N. B. <strong>Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.</strong> Nature Genet. 8: 380-386, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894490</a>] [<a href="https://doi.org/10.1038/ng1294-380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894490">Houwen et al. (1994)</a>. Four patients in 3 distantly related sibships, all with consanguineous parents, were described. Affected children first developed pruritus and icterus at ages ranging from 2 to 8 months. Cholestatic jaundice disappeared clinically and biochemically after 6 to 9 months, but subsequent episodes occurred. None of the obligatory carriers of the BRIC gene experienced signs of the disease. Four patients observed were from a population estimated to number 10,000 descended from the inhabitants of a small village founded in the middle ages, indicating a high carrier frequency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7677155+7894490" 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="#12" class="mim-tip-reference" title="Nagasaka, H., Yorifuji, T., Kosugiyama, K., Egawa, H., Kawai, M., Murayama, K., Hasegawa, M., Sumazaki, R., Tsubaki, J., Kikuta, H., Matsui, A., Tanaka, K., Matsuura, N., Kobayashi, K. <strong>Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone.</strong> J. Pediat. Gastroent. Nutr. 39: 404-409, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15448432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15448432</a>] [<a href="https://doi.org/10.1097/00005176-200410000-00018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15448432">Nagasaka et al. (2004)</a> reported 2 unrelated patients with PFIC1 and BRIC1 confirmed by the finding of mutations in the ATP8B1 gene. Both patients had short stature, decreased bone mineral density, and episodic hypocalcemia as a result of resistance to parathyroid hormone (PTH; <a href="/entry/168450">168450</a>). Detailed biochemical analysis of both patients showed that calcium and phosphorus levels were decreased and increased, respectively, with increasing serum total bilirubin levels. The findings corresponded clinically to pseudohypoparathyroidism type II, in which cAMP response to PTH infusion is normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15448432" 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 3 distantly related patients with BRIC, <a href="#8" class="mim-tip-reference" title="Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., Freimer, N. B. <strong>Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.</strong> Nature Genet. 8: 380-386, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894490</a>] [<a href="https://doi.org/10.1038/ng1294-380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894490">Houwen et al. (1994)</a> used linkage disequilibrium (LD) mapping (<a href="#10" class="mim-tip-reference" title="Lander, E. S., Botstein, D. <strong>Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map.</strong> Cold Spring Harb. Symp. Quant. Biol. 51: 49-62, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884068</a>] [<a href="https://doi.org/10.1101/sqb.1986.051.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2884068">Lander and Botstein, 1986</a>) to assign the BRIC gene to chromosome 18. Identification of an extended haplotype conserved between patients confirmed the results. <a href="#8" class="mim-tip-reference" title="Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., Freimer, N. B. <strong>Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.</strong> Nature Genet. 8: 380-386, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894490</a>] [<a href="https://doi.org/10.1038/ng1294-380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7894490">Houwen et al. (1994)</a> suggested that this was the first example of the use of LD mapping for assignment of a locus that had not previously been mapped. The authors made a distinction between linkage disequilibrium and other methods, notably homozygosity mapping (HM). HM had been used to map autosomal recessive loci in selected candidate regions, but its efficiency for full genome screening was unknown. In contrast, the search for shared segments treats each chromosome separately and thus is feasible for dominant as well as recessive disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2884068+7894490" 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 14 affected families, <a href="#14" class="mim-tip-reference" title="Sinke, R. J., Carlton, V. E. H., Juijn, J. A., Delhaas, T., Bull, L., van Berge Henegouwen, G. P., van Hattum, J., Keller, K. M., Sinaasappel, M., Bijleveld, C. M. A, Knol, I. E., Ploos van Amstel, H.-K., Pearson, P. L., Berger, R., Freimer, N. B., Houwen, R. H. J. <strong>Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.</strong> Hum. Genet. 100: 382-387, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9272159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9272159</a>] [<a href="https://doi.org/10.1007/s004390050520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9272159">Sinke et al. (1997)</a> narrowed the candidate BRIC disease region to a 7-cM interval between markers D18S69 and D18S64 on chromosome 18q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9272159" 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</em></strong></p><p>
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One of the families with BRIC studied by <a href="#14" class="mim-tip-reference" title="Sinke, R. J., Carlton, V. E. H., Juijn, J. A., Delhaas, T., Bull, L., van Berge Henegouwen, G. P., van Hattum, J., Keller, K. M., Sinaasappel, M., Bijleveld, C. M. A, Knol, I. E., Ploos van Amstel, H.-K., Pearson, P. L., Berger, R., Freimer, N. B., Houwen, R. H. J. <strong>Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.</strong> Hum. Genet. 100: 382-387, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9272159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9272159</a>] [<a href="https://doi.org/10.1007/s004390050520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9272159">Sinke et al. (1997)</a> showed no linkage to the 18q21 region, consistent with previous reports of genetic heterogeneity in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9272159" 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="Floreani, A., Molaro, M., Mottes, M., Sangalli, A., Baragiotta, A., Roda, A., Naccarato, R., Clementi, M. <strong>Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.</strong> Am. J. Med. Genet. 95: 450-453, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146465</a>] [<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<450::aid-ajmg8>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11146465">Floreani et al. (2000)</a> studied an Italian family in which 7 of 19 members studied had benign recurrent intrahepatic cholestasis. Both males and females were affected in 2 successive generations and in 4 separate sibships with male-to-male transmission, suggesting autosomal dominant inheritance. Linkage studies excluded 18q and 2q24 where autosomal recessive BRIC1 and BRIC2 have been mapped, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146465" 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 patients with BRIC1, <a href="#4" class="mim-tip-reference" title="Bull, L. N., van Eijk, M. J. T., Pawlikowska, L., DeYoung, J. A., Juijn, J. A., Liao, M., Klomp, L. W. J., Lomri, N., Berger, R., Scharschmidt, B. F., Knisely, A. S., Houwen, R. H. J., Freimer, N. B. <strong>A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.</strong> Nature Genet. 18: 219-224, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500542</a>] [<a href="https://doi.org/10.1038/ng0398-219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500542">Bull et al. (1998)</a> identified mutations in the ATP8B1 gene (<a href="/entry/602397#0006">602397.0006</a>; <a href="/entry/602397#0007">602397.0007</a>). Most had homozygous or compound heterozygous mutations; some only had a heterozygous mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500542" 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 the patients with BRIC from the Faroe Islands originally reported by <a href="#16" class="mim-tip-reference" title="Tygstrup, N. <strong>Intermittent possibly familial intrahepatic cholestatic jaundice.</strong> Lancet 275: 1171-1172, 1960. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13840084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13840084</a>] [<a href="https://doi.org/10.1016/s0140-6736(60)91045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13840084">Tygstrup (1960)</a>, <a href="#18" class="mim-tip-reference" title="Tygstrup, N., Steig, B. A., Juijn, J. A., Bull, L. N., Houwen, R. H. J. <strong>Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity.</strong> Hepatology 29: 506-508, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9918928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9918928</a>] [<a href="https://doi.org/10.1002/hep.510290214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9918928">Tygstrup et al. (1999)</a> identified a founder mutation in the ATP8B1 gene (I661T; <a href="/entry/602397#0006">602397.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9918928+13840084" 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>Infusion of BRIC serum into rats and radiotracer studies led <a href="#11" class="mim-tip-reference" title="Minuk, G. Y., Shaffer, E. A. <strong>Benign recurrent intrahepatic cholestasis: evidence for an intrinsic abnormality in hepatocyte secretion.</strong> Gastroenterology 93: 1187-1193, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3678736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3678736</a>]" pmid="3678736">Minuk and Shaffer (1987)</a> to conclude that BRIC is not mediated by a circulating cholestatic agent, but rather is secondary to an intrinsic abnormality in hepatocyte bile salt secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3678736" 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="#Alagille1979" class="mim-tip-reference" title="Alagille, D., Odievre, M. <strong>Liver and Biliary Tract Disease in Children.</strong> New York: John Wiley (pub.) 1979. Pp. 68-93.">Alagille and Odievre (1979)</a>; <a href="#Beaudoin1973" class="mim-tip-reference" title="Beaudoin, M., Feldmann, G., Erlinger, S., Benhamou, J.-P. <strong>Benign recurrent cholestasis.</strong> Digestion 9: 49-65, 1973.">Beaudoin et al. (1973)</a>; <a href="#DaSilva1966" class="mim-tip-reference" title="DaSilva, L. C., De Brito, T. <strong>Benign recurrent intrahepatic cholestasis in two brothers: a clinical light and electron microscopy study.</strong> Ann. Intern. Med. 65: 330-341, 1966.">DaSilva and De
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Digestion 9: 49-65, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4777519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4777519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4777519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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J. Clin. Gastroent. 11: 546-551, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2794432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2794432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2794432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bull, L. N., van Eijk, M. J. T., Pawlikowska, L., DeYoung, J. A., Juijn, J. A., Liao, M., Klomp, L. W. J., Lomri, N., Berger, R., Scharschmidt, B. F., Knisely, A. S., Houwen, R. H. J., Freimer, N. B.
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<strong>A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.</strong>
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Nature Genet. 18: 219-224, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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DaSilva, L. C., De Brito, T.
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<strong>Benign recurrent intrahepatic cholestasis in two brothers: a clinical light and electron microscopy study.</strong>
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Ann. Intern. Med. 65: 330-341, 1966.
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De Koning, T. J., Sandkuijl, L. A., De Schryver, J. E. A. R., Hennekam, E. A. M., Beemer, F. A., Houwen, R. H. J.
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<strong>Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7677155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7677155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7677155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320570324" target="_blank">Full Text</a>]
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<a id="Floreani2000" class="mim-anchor"></a>
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Floreani, A., Molaro, M., Mottes, M., Sangalli, A., Baragiotta, A., Roda, A., Naccarato, R., Clementi, M.
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<strong>Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.</strong>
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Am. J. Med. Genet. 95: 450-453, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<450::aid-ajmg8>3.0.co;2-v" target="_blank">Full Text</a>]
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<a id="Houwen1994" class="mim-anchor"></a>
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Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., Freimer, N. B.
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<strong>Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.</strong>
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Nature Genet. 8: 380-386, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7894490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7894490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7894490" 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/10.1038/ng1294-380" target="_blank">Full Text</a>]
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<a id="Kuhn1963" class="mim-anchor"></a>
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Kuhn, H. A.
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<strong>Intrahepatic cholestasis in two brothers.</strong>
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German Med. Monthly 8: 185-188, 1963.
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<a id="Lander1986" class="mim-anchor"></a>
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Lander, E. S., Botstein, D.
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<strong>Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map.</strong>
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Cold Spring Harb. Symp. Quant. Biol. 51: 49-62, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2884068" 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/10.1101/sqb.1986.051.01.007" target="_blank">Full Text</a>]
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Minuk, G. Y., Shaffer, E. A.
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<strong>Benign recurrent intrahepatic cholestasis: evidence for an intrinsic abnormality in hepatocyte secretion.</strong>
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Gastroenterology 93: 1187-1193, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3678736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3678736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3678736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Nagasaka2004" class="mim-anchor"></a>
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Nagasaka, H., Yorifuji, T., Kosugiyama, K., Egawa, H., Kawai, M., Murayama, K., Hasegawa, M., Sumazaki, R., Tsubaki, J., Kikuta, H., Matsui, A., Tanaka, K., Matsuura, N., Kobayashi, K.
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<strong>Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone.</strong>
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J. Pediat. Gastroent. Nutr. 39: 404-409, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15448432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15448432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15448432" 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/10.1097/00005176-200410000-00018" target="_blank">Full Text</a>]
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<a id="Schapiro1963" class="mim-anchor"></a>
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Schapiro, R. H., Isselbacher, R. J.
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<strong>Benign recurrent intrahepatic cholestasis.</strong>
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New Eng. J. Med. 268: 708-711, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13976702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13976702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13976702" 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/NEJM196303282681305" target="_blank">Full Text</a>]
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<a id="Sinke1997" class="mim-anchor"></a>
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Sinke, R. J., Carlton, V. E. H., Juijn, J. A., Delhaas, T., Bull, L., van Berge Henegouwen, G. P., van Hattum, J., Keller, K. M., Sinaasappel, M., Bijleveld, C. M. A, Knol, I. E., Ploos van Amstel, H.-K., Pearson, P. L., Berger, R., Freimer, N. B., Houwen, R. H. J.
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<strong>Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.</strong>
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Hum. Genet. 100: 382-387, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9272159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9272159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9272159" 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/10.1007/s004390050520" target="_blank">Full Text</a>]
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<a id="Summerskill1959" class="mim-anchor"></a>
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<div class="">
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Summerskill, W. H. J., Walshe, J. M.
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<strong>Benign recurrent intrahepatic 'obstructive' jaundice.</strong>
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Lancet 274: 686-690, 1959. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13835689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13835689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13835689" 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/s0140-6736(59)92128-2" target="_blank">Full Text</a>]
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Tygstrup, N.
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<strong>Intermittent possibly familial intrahepatic cholestatic jaundice.</strong>
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Lancet 275: 1171-1172, 1960. Note: Originally Volume 1.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13840084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13840084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13840084" 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/s0140-6736(60)91045-x" target="_blank">Full Text</a>]
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Tygstrup, N., Jensen, B.
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<strong>Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands.</strong>
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Acta Med. Scand. 185: 523-530, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5807632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5807632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5807632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1969.tb07378.x" target="_blank">Full Text</a>]
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Tygstrup, N., Steig, B. A., Juijn, J. A., Bull, L. N., Houwen, R. H. J.
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<strong>Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity.</strong>
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Hepatology 29: 506-508, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9918928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9918928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9918928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/hep.510290214" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 6/19/2006
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Cassandra L. Kniffin - reorganized : 6/15/2006<br>Cassandra L. Kniffin - updated : 2/27/2006<br>Victor A. McKusick - updated : 12/19/2000<br>Victor A. McKusick - updated : 3/22/1999<br>Victor A. McKusick - updated : 2/24/1998<br>Clair A. Francomano - updated : 10/22/1997
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Victor A. McKusick : 6/3/1986
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alopez : 09/15/2016
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carol : 12/07/2012<br>ckniffin : 12/6/2012<br>terry : 5/4/2009<br>terry : 4/9/2009<br>carol : 12/4/2008<br>carol : 12/2/2008<br>carol : 6/21/2006<br>ckniffin : 6/19/2006<br>carol : 6/15/2006<br>ckniffin : 2/27/2006<br>carol : 12/19/2000<br>terry : 12/19/2000<br>carol : 11/8/1999<br>carol : 3/23/1999<br>carol : 3/23/1999<br>terry : 3/22/1999<br>carol : 1/22/1999<br>alopez : 2/27/1998<br>terry : 2/24/1998<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>dholmes : 10/22/1997<br>mark : 7/16/1995<br>carol : 12/13/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<h3>
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<span class="mim-font">
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CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
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</h3>
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<span class="mim-font">
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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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SUMMERSKILL SYNDROME
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</h4>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 65682, 99960;
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<strong>DO:</strong> 0070231;
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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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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18q21.31
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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, benign recurrent intrahepatic
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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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243300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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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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602397
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because benign recurrent intrahepatic cholestasis-1 (BRIC1) is caused by homozygous or compound heterozygous mutation in the ATP8B1 gene (602397) on chromosome 18q. Some patients may have a heterozygous mutation.</p><p>Progressive familial intrahepatic cholestasis-1 (PFIC1; 211600) and intrahepatic cholestasis of pregnancy-1 (ICP1; 147480) are allelic disorders.</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989). </p><p>Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' </p><p><strong><em>Genetic Heterogeneity of Benign Recurrent Intrahepatic Cholestasis</em></strong></p><p>
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See also BRIC2 (605479), caused by mutation in the ABCB11 gene (603201) on chromosome 2q24.</p>
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</span>
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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>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Summerskill and Walshe (1959) reported 2 unrelated patients with recurrent intrahepatic cholestasis. Kuhn (1963) described 2 teenaged brothers who had repeated attacks of jaundice accompanied by itching and hepatomegaly. Progression to biliary cirrhosis was suspected in one. </p><p>Tygstrup (1960) described the condition in 2 distantly related 15-year-old boys living in a small village in the Faroe Islands. Onset in these patients was in the first 2 years of life. Cholestasis was demonstrated by liver biopsy and direct cholangiography. Tygstrup and Jensen (1969) described intermittent intrahepatic cholestasis in 5 young males from the Faroe Islands. The disorder was characterized by recurrent attacks of pruritus and jaundice. During disease-free intervals, which lasted for months or years, no clinical or biochemical indication of cholestasis was found. Tygstrup et al. (1999) reported a follow-up 30 years later on the 5 patients in the original report and described 5 additional patients from the Faroe Islands. Progression to chronic liver disease had not occurred. The episodes of cholestasis tended to reduce in frequency with age. The youngest patient, aged 25 years, who had had 16 episodes lasting about 6 months each, had a liver transplant after which no further episodes were recorded 1 year after surgery. </p><p>Minuk and Shaffer (1987) studied a man who developed severe pruritus followed by jaundice and thereafter had 5 episodes, each of 3 or 4 months' duration, during the next 8 years. A brother and sister also had episodes of pruritus followed by jaundice. </p><p>De Koning et al. (1995) provided full pedigree and clinical information on a large kindred with BRIC reported by Houwen et al. (1994). Four patients in 3 distantly related sibships, all with consanguineous parents, were described. Affected children first developed pruritus and icterus at ages ranging from 2 to 8 months. Cholestatic jaundice disappeared clinically and biochemically after 6 to 9 months, but subsequent episodes occurred. None of the obligatory carriers of the BRIC gene experienced signs of the disease. Four patients observed were from a population estimated to number 10,000 descended from the inhabitants of a small village founded in the middle ages, indicating a high carrier frequency. </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>Other Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nagasaka et al. (2004) reported 2 unrelated patients with PFIC1 and BRIC1 confirmed by the finding of mutations in the ATP8B1 gene. Both patients had short stature, decreased bone mineral density, and episodic hypocalcemia as a result of resistance to parathyroid hormone (PTH; 168450). Detailed biochemical analysis of both patients showed that calcium and phosphorus levels were decreased and increased, respectively, with increasing serum total bilirubin levels. The findings corresponded clinically to pseudohypoparathyroidism type II, in which cAMP response to PTH infusion is normal. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 distantly related patients with BRIC, Houwen et al. (1994) used linkage disequilibrium (LD) mapping (Lander and Botstein, 1986) to assign the BRIC gene to chromosome 18. Identification of an extended haplotype conserved between patients confirmed the results. Houwen et al. (1994) suggested that this was the first example of the use of LD mapping for assignment of a locus that had not previously been mapped. The authors made a distinction between linkage disequilibrium and other methods, notably homozygosity mapping (HM). HM had been used to map autosomal recessive loci in selected candidate regions, but its efficiency for full genome screening was unknown. In contrast, the search for shared segments treats each chromosome separately and thus is feasible for dominant as well as recessive disorders. </p><p>In 14 affected families, Sinke et al. (1997) narrowed the candidate BRIC disease region to a 7-cM interval between markers D18S69 and D18S64 on chromosome 18q21. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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One of the families with BRIC studied by Sinke et al. (1997) showed no linkage to the 18q21 region, consistent with previous reports of genetic heterogeneity in this disorder. </p><p>Floreani et al. (2000) studied an Italian family in which 7 of 19 members studied had benign recurrent intrahepatic cholestasis. Both males and females were affected in 2 successive generations and in 4 separate sibships with male-to-male transmission, suggesting autosomal dominant inheritance. Linkage studies excluded 18q and 2q24 where autosomal recessive BRIC1 and BRIC2 have been mapped, indicating genetic heterogeneity. </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 patients with BRIC1, Bull et al. (1998) identified mutations in the ATP8B1 gene (602397.0006; 602397.0007). Most had homozygous or compound heterozygous mutations; some only had a heterozygous mutation. </p><p>In the patients with BRIC from the Faroe Islands originally reported by Tygstrup (1960), Tygstrup et al. (1999) identified a founder mutation in the ATP8B1 gene (I661T; 602397.0006). </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>Animal Model</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>Infusion of BRIC serum into rats and radiotracer studies led Minuk and Shaffer (1987) to conclude that BRIC is not mediated by a circulating cholestatic agent, but rather is secondary to an intrinsic abnormality in hepatocyte bile salt secretion. </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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<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">
|
|
Alagille and Odievre (1979); Beaudoin et al. (1973); DaSilva and De
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Brito (1966)
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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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Alagille, D., Odievre, M.
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<strong>Liver and Biliary Tract Disease in Children.</strong>
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New York: John Wiley (pub.) 1979. Pp. 68-93.
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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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Beaudoin, M., Feldmann, G., Erlinger, S., Benhamou, J.-P.
|
|
<strong>Benign recurrent cholestasis.</strong>
|
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Digestion 9: 49-65, 1973.
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[PubMed: 4777519]
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[Full Text: https://doi.org/10.1159/000197421]
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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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Brenard, R., Geubel, A. P., Benhamou, J. P.
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<strong>Benign recurrent intrahepatic cholestasis: a report of 26 cases.</strong>
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J. Clin. Gastroent. 11: 546-551, 1989.
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[PubMed: 2794432]
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[Full Text: https://doi.org/10.1097/00004836-198910000-00011]
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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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Bull, L. N., van Eijk, M. J. T., Pawlikowska, L., DeYoung, J. A., Juijn, J. A., Liao, M., Klomp, L. W. J., Lomri, N., Berger, R., Scharschmidt, B. F., Knisely, A. S., Houwen, R. H. J., Freimer, N. B.
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<strong>A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.</strong>
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Nature Genet. 18: 219-224, 1998.
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[PubMed: 9500542]
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[Full Text: https://doi.org/10.1038/ng0398-219]
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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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DaSilva, L. C., De Brito, T.
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<strong>Benign recurrent intrahepatic cholestasis in two brothers: a clinical light and electron microscopy study.</strong>
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Ann. Intern. Med. 65: 330-341, 1966.
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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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De Koning, T. J., Sandkuijl, L. A., De Schryver, J. E. A. R., Hennekam, E. A. M., Beemer, F. A., Houwen, R. H. J.
|
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<strong>Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.</strong>
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Am. J. Med. Genet. 57: 479-482, 1995.
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[PubMed: 7677155]
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[Full Text: https://doi.org/10.1002/ajmg.1320570324]
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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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Floreani, A., Molaro, M., Mottes, M., Sangalli, A., Baragiotta, A., Roda, A., Naccarato, R., Clementi, M.
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<strong>Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.</strong>
|
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Am. J. Med. Genet. 95: 450-453, 2000.
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[PubMed: 11146465]
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[Full Text: https://doi.org/10.1002/1096-8628(20001218)95:5<450::aid-ajmg8>3.0.co;2-v]
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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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Houwen, R. H. J., Baharloo, S., Blankenship, K., Raeymaekers, P., Juyn, J., Sandkuijl, L. A., Freimer, N. B.
|
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<strong>Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.</strong>
|
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Nature Genet. 8: 380-386, 1994.
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[PubMed: 7894490]
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[Full Text: https://doi.org/10.1038/ng1294-380]
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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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Kuhn, H. A.
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<strong>Intrahepatic cholestasis in two brothers.</strong>
|
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German Med. Monthly 8: 185-188, 1963.
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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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Lander, E. S., Botstein, D.
|
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<strong>Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map.</strong>
|
|
Cold Spring Harb. Symp. Quant. Biol. 51: 49-62, 1986.
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[PubMed: 2884068]
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[Full Text: https://doi.org/10.1101/sqb.1986.051.01.007]
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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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Minuk, G. Y., Shaffer, E. A.
|
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<strong>Benign recurrent intrahepatic cholestasis: evidence for an intrinsic abnormality in hepatocyte secretion.</strong>
|
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Gastroenterology 93: 1187-1193, 1987.
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[PubMed: 3678736]
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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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Nagasaka, H., Yorifuji, T., Kosugiyama, K., Egawa, H., Kawai, M., Murayama, K., Hasegawa, M., Sumazaki, R., Tsubaki, J., Kikuta, H., Matsui, A., Tanaka, K., Matsuura, N., Kobayashi, K.
|
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<strong>Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone.</strong>
|
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J. Pediat. Gastroent. Nutr. 39: 404-409, 2004.
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[PubMed: 15448432]
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[Full Text: https://doi.org/10.1097/00005176-200410000-00018]
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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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Schapiro, R. H., Isselbacher, R. J.
|
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<strong>Benign recurrent intrahepatic cholestasis.</strong>
|
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New Eng. J. Med. 268: 708-711, 1963.
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[PubMed: 13976702]
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[Full Text: https://doi.org/10.1056/NEJM196303282681305]
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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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Sinke, R. J., Carlton, V. E. H., Juijn, J. A., Delhaas, T., Bull, L., van Berge Henegouwen, G. P., van Hattum, J., Keller, K. M., Sinaasappel, M., Bijleveld, C. M. A, Knol, I. E., Ploos van Amstel, H.-K., Pearson, P. L., Berger, R., Freimer, N. B., Houwen, R. H. J.
|
|
<strong>Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.</strong>
|
|
Hum. Genet. 100: 382-387, 1997.
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[PubMed: 9272159]
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[Full Text: https://doi.org/10.1007/s004390050520]
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Summerskill, W. H. J., Walshe, J. M.
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<strong>Benign recurrent intrahepatic 'obstructive' jaundice.</strong>
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Lancet 274: 686-690, 1959. Note: Originally Volume 2.
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[PubMed: 13835689]
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[Full Text: https://doi.org/10.1016/s0140-6736(59)92128-2]
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Tygstrup, N.
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<strong>Intermittent possibly familial intrahepatic cholestatic jaundice.</strong>
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Lancet 275: 1171-1172, 1960. Note: Originally Volume 1.
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[PubMed: 13840084]
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[Full Text: https://doi.org/10.1016/s0140-6736(60)91045-x]
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Tygstrup, N., Jensen, B.
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<strong>Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands.</strong>
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Acta Med. Scand. 185: 523-530, 1969.
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[PubMed: 5807632]
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[Full Text: https://doi.org/10.1111/j.0954-6820.1969.tb07378.x]
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Tygstrup, N., Steig, B. A., Juijn, J. A., Bull, L. N., Houwen, R. H. J.
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<strong>Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity.</strong>
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Hepatology 29: 506-508, 1999.
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[PubMed: 9918928]
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[Full Text: https://doi.org/10.1002/hep.510290214]
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Cassandra L. Kniffin - updated : 6/19/2006<br>Cassandra L. Kniffin - reorganized : 6/15/2006<br>Cassandra L. Kniffin - updated : 2/27/2006<br>Victor A. McKusick - updated : 12/19/2000<br>Victor A. McKusick - updated : 3/22/1999<br>Victor A. McKusick - updated : 2/24/1998<br>Clair A. Francomano - updated : 10/22/1997
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Victor A. McKusick : 6/3/1986
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alopez : 09/15/2016<br>carol : 12/07/2012<br>ckniffin : 12/6/2012<br>terry : 5/4/2009<br>terry : 4/9/2009<br>carol : 12/4/2008<br>carol : 12/2/2008<br>carol : 6/21/2006<br>ckniffin : 6/19/2006<br>carol : 6/15/2006<br>ckniffin : 2/27/2006<br>carol : 12/19/2000<br>terry : 12/19/2000<br>carol : 11/8/1999<br>carol : 3/23/1999<br>carol : 3/23/1999<br>terry : 3/22/1999<br>carol : 1/22/1999<br>alopez : 2/27/1998<br>terry : 2/24/1998<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>alopez : 11/5/1997<br>dholmes : 10/22/1997<br>mark : 7/16/1995<br>carol : 12/13/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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