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Entry
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- #211600 - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
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- OMIM
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<p>
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<span class="h4">#211600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/211600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS211600"> <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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=CHOLESTASIS, PROGRESSIVE FAMILIAL 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=1073&Typ=Pat" title="Progressive familial intrahepatic cholestasis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive familial intra… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11332&Typ=Pat" title="Progressive familial intrahepatic cholestasis type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive familial intra… </a></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/9166" 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=211600[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=172" title="Progressive familial intrahepatic cholestasis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive familial intra…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79306" title="Progressive familial intrahepatic cholestasis type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive familial intra…</a></div>
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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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070226" 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/211600" 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:0070226" 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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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:211600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1155913007<br />
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<strong>ORPHA:</strong> 172, 79306<br />
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<strong>DO:</strong> 0070226<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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211600
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CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
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</h3>
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
BYLER DISEASE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
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, progressive familial intrahepatic 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/211600"> 211600 </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>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/211600" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS211600" 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/211600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/211600" 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> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
|
|
Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008372</a> 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> <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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> 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> <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 /> -
|
|
Intracanalicular cholestasis shown on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677174</a>]</span><br /> -
|
|
Giant cell transformation shown on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677175</a>]</span><br /> -
|
|
Bridging fibrosis shown on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677176</a>]</span><br /> -
|
|
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
|
|
End-stage liver disease before adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677003</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Malabsorption of fat and fat-soluble vitamins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675628</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> 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> <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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4321528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321528</a>, <a href="https://bioportal.bioontology.org/search?q=C0033774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033774</a> 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> <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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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 /> -
|
|
Decreased serum cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4325587&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4325587</a>]</span><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">
|
|
|
|
- Genetic heterogeneity, see also PFIC2 (<a href="/entry/601847">601847</a>), PFIC3 (<a href="/entry/602347">602347</a>)<br /> -
|
|
Onset in early infancy<br /> -
|
|
Caused by a defect in bile acid transport<br /> -
|
|
Allelic disorder to benign recurrent intrahepatic cholestasis (BRIC1, <a href="/entry/243300">243300</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#0001">602397.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Cholestasis, progressive familial intrahepatic
|
|
- <a href="/phenotypicSeries/PS211600">PS211600</a>
|
|
- 13 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/754?start=-3&limit=10&highlight=754"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601847"> Cholestasis, progressive familial intrahepatic 2 </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">
|
|
<a href="/entry/601847"> 601847 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603201"> ABCB11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603201"> 603201 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/992?start=-3&limit=10&highlight=992"> 3q29 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619484"> ?Cholestasis, progressive familial intrahepatic, 6 </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>
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<span class="mim-font">
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<a href="/entry/619484"> 619484 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/612084"> SLC51A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612084"> 612084 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/515?start=-3&limit=10&highlight=515"> 4q26 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619658"> Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619658"> 619658 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617431"> USP53 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/617431"> 617431 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/388?start=-3&limit=10&highlight=388"> 7q21.12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602347"> Cholestasis, progressive familial intrahepatic 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602347"> 602347 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/171060"> ABCB4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/171060"> 171060 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/228?start=-3&limit=10&highlight=228"> 9q21.11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615878"> Cholestasis, progressive familial intrahepatic 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615878"> 615878 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607709"> TJP2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607709"> 607709 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/438?start=-3&limit=10&highlight=438"> 9q32 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619662"> Cholestasis, progressive familial intrahepatic, 8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/619662"> 619662 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611278"> KIF12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611278"> 611278 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/719?start=-3&limit=10&highlight=719"> 12q23.1 </a>
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|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/617049"> Cholestasis, progressive familial intrahepatic, 5 </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">
|
|
<a href="/entry/617049"> 617049 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/603826"> NR1H4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603826"> 603826 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/107?start=-3&limit=10&highlight=107"> 15q15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619849"> Cholestasis, progressive familial intrahepatic, 9 </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">
|
|
<a href="/entry/619849"> 619849 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619635"> ZFYVE19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619635"> 619635 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/378?start=-3&limit=10&highlight=378"> 15q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619874"> ?Cholestasis, progressive familial intrahepatic, 11 </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">
|
|
<a href="/entry/619874"> 619874 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607961"> SEMA7A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607961"> 607961 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/527?start=-3&limit=10&highlight=527"> 15q26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620010"> Cholestasis, progressive familial intrahepatic, 12 </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">
|
|
<a href="/entry/620010"> 620010 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608552"> VPS33B </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608552"> 608552 </a>
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<a href="/geneMap/16/564?start=-3&limit=10&highlight=564"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620962"> Cholestasis, progressive familial intrahepatic, 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</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>
|
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<span class="mim-font">
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<a href="/entry/620962"> 620962 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/177015"> PSKH1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/177015"> 177015 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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|
<a href="/geneMap/18/179?start=-3&limit=10&highlight=179"> 18q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/619868"> Cholestasis, progressive familial intrahepatic, 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/619868"> 619868 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606540"> MYO5B </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/606540"> 606540 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/18/208?start=-3&limit=10&highlight=208"> 18q21.31 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/211600"> Cholestasis, progressive familial intrahepatic 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/211600"> 211600 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/602397"> ATP8B1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/602397"> 602397 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because progressive familial intrahepatic cholestasis-1 (PFIC1) is caused by homozygous or compound heterozygous mutation in the ATP8B1 gene (<a href="/entry/602397">602397</a>) on chromosome 18q21.</p><p>Mutation in the ATP8B1 gene can also cause benign recurrent intrahepatic cholestasis-1 (BRIC1; <a href="/entry/243300">243300</a>) and intrahepatic cholestasis of pregnancy-1 (ICP1; <a href="/entry/147480">147480</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<p>Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (<a href="#1" class="mim-tip-reference" title="Alonso, E. M., Snover, D. C., Montag, A., Freese, D. K., Whitington, P. F. <strong>Histologic pathology of the liver in progressive familial intrahepatic cholestasis.</strong> J. Pediat. Gastroent. Nutr. 18: 128-133, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8014759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8014759</a>] [<a href="https://doi.org/10.1097/00005176-199402000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8014759">Alonso et al., 1994</a>; <a href="#38" class="mim-tip-reference" title="Whitington, P. F., Freese, D. K., Alonso, E. M., Schwarzenberg, S. J., Sharp, H. L. <strong>Clinical and biochemical findings in progressive familial intrahepatic cholestasis.</strong> J. Pediat. Gastroent. Nutr. 18: 134-141, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912266</a>] [<a href="https://doi.org/10.1097/00005176-199402000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7912266">Whitington et al., 1994</a>; <a href="#22" class="mim-tip-reference" title="Klomp, L. W. J., Vargas, J. C., van Mil, S. W. C., Pawlikowska, L., Strautnieks, S. S., van Eijk, M. J. T., Juijn, J. A., Pabon-Pena, C., Smith, L. B., DeYoung, J. A., Byrne, J. A., Gombert, J., van der Brugge, G., Berger, R., Jankowska, I., Pawlowska, J., Villa, E., Knisely, A. S., Thompson, R. J., Freimer, N. B., Houwen, R. H. J., Bull, L. N. <strong>Characterization of mutations in ATP8B1 associated with hereditary cholestasis.</strong> Hepatology 40: 27-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15239083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15239083</a>] [<a href="https://doi.org/10.1002/hep.20285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15239083">Klomp et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7912266+15239083+8014759" 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 Progressive Familial Intrahepatic Cholestasis</em></strong></p><p>
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PFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (<a href="/entry/601847">601847</a>), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11; <a href="/entry/603201">603201</a>) on chromosome 2q24; PFIC3 (<a href="/entry/602347">602347</a>), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4; <a href="/entry/171060">171060</a>) on chromosome 7q21; PFIC4 (<a href="/entry/615878">615878</a>), caused by mutation in the TJP2 gene (<a href="/entry/607709">607709</a>) on chromosome 9q12; PFIC5 (<a href="/entry/617049">617049</a>), caused by mutation in the NR1H4 gene (<a href="/entry/603826">603826</a>) on chromosome 12q23; PFIC6 (<a href="/entry/619484">619484</a>), caused by mutation in the SLC51A gene (<a href="/entry/612084">612084</a>) on chromosome 3q29; PFIC7 (<a href="/entry/619658">619658</a>), caused by mutation in the USP53 gene (<a href="/entry/617431">617431</a>) on chromosome 4q26; PFIC8 (<a href="/entry/619662">619662</a>), caused by mutation in the KIF12 gene (<a href="/entry/611278">611278</a>) on chromosome 9q32; PFIC9 (<a href="/entry/619849">619849</a>), caused by mutation in the ZFYVE19 gene (<a href="/entry/619635">619635</a>) on chromosome 15q15; PFIC10 (<a href="/entry/619868">619868</a>), caused by mutation in the MYO5B gene (<a href="/entry/606540">606540</a>) on chromosome 18q21; PFIC11 (<a href="/entry/619874">619874</a>), caused by mutation in the SEMA7A gene (<a href="/entry/607961">607961</a>) on chromosome 15q24; PFIC12 (<a href="/entry/620010">620010</a>), caused by mutation in the VPS33B gene (<a href="/entry/608552">608552</a>) on chromosome 15q26; and PFIC13 (<a href="/entry/620962">620962</a>) is caused by mutation in the PSKH1 gene (<a href="/entry/177015">177015</a>) on chromosome 16q22.</p><p>PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see <a href="/entry/612346">612346</a>), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage (Maggiore et al. (<a href="#27" class="mim-tip-reference" title="Maggiore, G., Bernard, O., Riely, C. A., Hadchouel, M., Lemonnier, A., Alagille, D. <strong>Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis.</strong> J. Pediat. 111: 251-252, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2886574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2886574</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80079-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2886574">1987</a>, <a href="#26" class="mim-tip-reference" title="Maggiore, G., Bernard, O., Hadchouel, M., Lemonnier, A., Alagille, D. <strong>Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children.</strong> J. Pediat. Gastroent. Nutr. 12: 21-26, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1676410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1676410</a>] [<a href="https://doi.org/10.1097/00005176-199101000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1676410">1991</a>)). PFIC4 is associated with normal or mildly increased GGT levels (<a href="#33" class="mim-tip-reference" title="Sambrotta, M., Strautnieks, S., Papouli, E., Rushton, P., Clark, B. E., Parry, D. A., Logan, C. V., Newbury, L. J., Kamath, B. M., Ling, S., Grammatikopoulos, T., Wagner, B. E., and 11 others. <strong>Mutations in TJP2 cause progressive cholestatic liver disease.</strong> Nature Genet. 46: 326-328, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24614073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24614073</a>] [<a href="https://doi.org/10.1038/ng.2918" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24614073">Sambrotta et al., 2014</a>). PFIC5 is associated with low to normal GGT levels. PFIC8 and PFIC9 are associated with high GGT levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1676410+24614073+2886574" 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>There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (<a href="/entry/607765">607765</a>).</p>
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<p>In the Old Order Amish, Clayton et al. (<a href="#8" class="mim-tip-reference" title="Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A. <strong>Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. (Abstract)</strong> J. Pediat. 67: 1025-1028, 1965."None>1965</a>, <a href="#9" class="mim-tip-reference" title="Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A. <strong>Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred.</strong> Am. J. Dis. Child. 117: 112-124, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762004</a>]" pmid="5762004">1969</a>) described a severe form of intrahepatic cholestasis leading to death in the first decade of life. The main clinical features were early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, impaired growth with short stature, and in 4 of 6 cases, death between 17 months and 8 years. One mother had extreme pruritus without jaundice in the last trimester of each of 4 pregnancies, consistent with ICP. Two fathers had reduced maximum excretion of sulfobromophthalein. Treatment with cholestyramine, a bile-salt-sequestering exchange resin, reduced the hyperbilirubinemia. Because the bile showed an increased proportion of dihydroxy bile salts as well as the early onset of changes in the stool and the response to cholestyramine, a defect in bile salt metabolism was postulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5762004" 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="#20" class="mim-tip-reference" title="Kaye, R. <strong>Comments.</strong> J. Pediat. 67: 1027-1028, 1965."None>Kaye (1965)</a> studied 3 sibs with intrahepatic cholestasis in which itching predated jaundice, which began by 2 or 3 years of age. One sib died at about 7 years of age and 2 were still alive at ages of about 5 and 10. Cholestyramine had no benefit. These patients were later reported by <a href="#39" class="mim-tip-reference" title="Williams, C. N., Kaye, R., Baker, L., Hurwitz, R., Senior, J. R. <strong>Progressive familial cholestatic cirrhosis and bile acid metabolism.</strong> J. Pediat. 81: 493-500, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5049818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5049818</a>] [<a href="https://doi.org/10.1016/s0022-3476(72)80175-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5049818">Williams et al. (1972)</a>. The same condition was probably described by <a href="#14" class="mim-tip-reference" title="Gray, O. P., Saunders, R. A. <strong>Familial intrahepatic cholestatic jaundice in infancy.</strong> Arch. Dis. Child. 41: 320-328, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5940621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5940621</a>] [<a href="https://doi.org/10.1136/adc.41.217.320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5940621">Gray and Saunders (1966)</a> in 2 sisters who died under 3 years of age and in a patient reported by <a href="#15" class="mim-tip-reference" title="Hirooka, M., Ohno, T. <strong>A case of familial intrahepatic cholestasis.</strong> Tohoku J. Exp. Med. 94: 293-306, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4175258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4175258</a>] [<a href="https://doi.org/10.1620/tjem.94.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4175258">Hirooka and Ohno (1968)</a>. <a href="#35" class="mim-tip-reference" title="Toussaint, W., Gros, H. <strong>Familiaerer Icterus durch intrahepatische Cholestase.</strong> Dtsch. Z. Verdau. Stoffwechselkr. 26: 23-31, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5998368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5998368</a>]" pmid="5998368">Toussaint and Gros (1966)</a> reported affected brothers. <a href="#23" class="mim-tip-reference" title="Landing, B. H. <strong>Personal Communication.</strong> Los Angeles, Calif. 1972."None>Landing (1972)</a> suggested that hepatoma may be a terminal event in some patients with PFIC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4175258+5049818+5998368+5940621" 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="#10" class="mim-tip-reference" title="De Vos, R., de Wolf-Peeters, C., Desmet, V., Eggermont, E., Van Acker, K. <strong>Progressive intrahepatic cholestasis (Byler's disease): case report.</strong> Gut 16: 943-950, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1218817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1218817</a>] [<a href="https://doi.org/10.1136/gut.16.12.943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1218817">De Vos et al. (1975)</a> reported a child with Byler disease. Liver biopsy showed intrahepatic cholestasis, and electron microscopy showed interruptions of the bile canalicular membrane. The findings suggested a primary disturbance in bile acid secretion as the cause of cholestasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1218817" 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="#19" class="mim-tip-reference" title="Kaplinsky, C., Sternlieb, I., Javitt, N., Rotem, Y. <strong>Familial cholestatic cirrhosis associated with Kayser-Fleischer rings.</strong> Pediatrics 65: 782-788, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7367085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7367085</a>]" pmid="7367085">Kaplinsky et al. (1980)</a> described a brother and sister with pruritus since infancy who developed cholestatic hepatic cirrhosis early in life. Although the boy had Kayser-Fleischer rings, further studies excluded Wilson disease (<a href="/entry/277900">277900</a>). Determination of the concentrations and patterns of bile acids in the serum indicated a defect in bile acid transport, not bile acid synthesis. Some of the clinical features resembled those described by <a href="#17" class="mim-tip-reference" title="Jones, E. A., Rabin, L., Buckley, H., Webster, G. K., Owens, D. <strong>Progressive intrahepatic cholestasis of infancy and childhood: a clinicopathological study of a patient surviving to the age of 18 years.</strong> Gastroenterology 71: 675-682, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/955355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">955355</a>]" pmid="955355">Jones et al. (1976)</a>. Differences from Byler disease were the absence of steatorrhea and physical retardation and survival beyond puberty in 1 sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=955355+7367085" 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="#29" class="mim-tip-reference" title="Nielsen, I.-M., Ornvold, K., Jacobsen, B. B., Ranek, L. <strong>Fatal familial cholestatic syndrome in Greenland Eskimo children.</strong> Acta Paediat. Scand. 75: 1010-1016, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3564958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3564958</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1986.tb10332.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3564958">Nielsen et al. (1986)</a> described Byler disease in 16 Greenland Eskimo children. Typical features included jaundice, pruritus, malnutrition, steatorrhea, osteodystrophy, short stature, and hyperbilirubinemia. Eight patients had died between the ages of 6 weeks and 3 years. The pedigrees were consistent with autosomal recessive inheritance. Liver biopsy showed nonspecific cholestatic features (<a href="#30" class="mim-tip-reference" title="Ornvold, K., Nielsen, I.-M., Poulsen, H. <strong>Fatal familial cholestatic syndrome in Greenland Eskimo children: a histomorphological analysis of 16 cases.</strong> Virchows Arch. A Path. Anat. Histopath. 415: 275-281, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2503928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2503928</a>] [<a href="https://doi.org/10.1007/BF00724915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2503928">Ornvold et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3564958+2503928" 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="#38" class="mim-tip-reference" title="Whitington, P. F., Freese, D. K., Alonso, E. M., Schwarzenberg, S. J., Sharp, H. L. <strong>Clinical and biochemical findings in progressive familial intrahepatic cholestasis.</strong> J. Pediat. Gastroent. Nutr. 18: 134-141, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912266</a>] [<a href="https://doi.org/10.1097/00005176-199402000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7912266">Whitington et al. (1994)</a> reported 33 patients with PFIC. Symptoms developed almost invariably before 6 months of age with severe pruritus and moderate jaundice. Serum levels of gamma-GGT and cholesterol were not elevated. Twenty-six patients had either partial biliary diversion or orthotopic liver transplantation. Seven patients died at a mean age of 3.9 years from liver failure, hepatocellular carcinoma, or complications of liver transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7912266" 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="Jacquemin, E., Dumont, M., Bernard, O., Erlinger, S., Hadchouel, M. <strong>Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease).</strong> Europ. J. Pediat. 153: 424-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088298</a>] [<a href="https://doi.org/10.1007/BF01983406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088298">Jacquemin et al. (1994)</a> found that total bile acid concentration was decreased in the bile of 7 children with Byler disease compared to children with other cholestatic diseases. Total bile acid concentration in serum was similar between the 2 groups. <a href="#16" class="mim-tip-reference" title="Jacquemin, E., Dumont, M., Bernard, O., Erlinger, S., Hadchouel, M. <strong>Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease).</strong> Europ. J. Pediat. 153: 424-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088298</a>] [<a href="https://doi.org/10.1007/BF01983406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088298">Jacquemin et al. (1994)</a> concluded that Byler disease is caused by a defect in primary bile acid secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088298" 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 liver biopsies from 28 patients with PFIC and low GGT1 levels, <a href="#1" class="mim-tip-reference" title="Alonso, E. M., Snover, D. C., Montag, A., Freese, D. K., Whitington, P. F. <strong>Histologic pathology of the liver in progressive familial intrahepatic cholestasis.</strong> J. Pediat. Gastroent. Nutr. 18: 128-133, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8014759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8014759</a>] [<a href="https://doi.org/10.1097/00005176-199402000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8014759">Alonso et al. (1994)</a> found canalicular cholestasis and disruption of the liver cell plate. Giant cell transformation was present in 56% of initial biopsies. Bile duct loss was a prominent and early finding and many biopsies had abnormal bile duct epithelium. Other features included bridging fibrosis, cirrhosis, and pseudoacinar transformation. Mallory hyaline bodies and hepatocellular carcinoma were observed in some patients with advanced cirrhosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8014759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bourke, B., Goggin, N., Walsh, D., Kennedy, S., Setchell, K. D. R., Drumm, B. <strong>Byler-like familial cholestasis in an extended kindred.</strong> Arch. Dis. Child. 75: 223-227, 1996. Note: Erratum: Arch. Dis. Child. 75: 548 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8976662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8976662</a>] [<a href="https://doi.org/10.1136/adc.75.3.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8976662">Bourke et al. (1996)</a> reported familial cholestasis resembling Byler disease in 8 children in 2 sibships related as first cousins in a highly intermarried group of Irish Travellers, an indigenous Irish nomadic community. The children had a history of neonatal diarrhea, sepsis, and intermittent jaundice that ultimately became permanent. They suffered from intractable pruritus and growth retardation. Despite evidence of severe cholestasis, serum gamma-glutamyltransferase and cholesterol concentrations were normal. Sweat sodium concentrations were raised in 3 children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8976662" 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="#36" class="mim-tip-reference" title="Trauner, M., Meier, P. J., Boyer, J. L. <strong>Molecular pathogenesis of cholestasis.</strong> New Eng. J. Med. 339: 1217-1227, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9780343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9780343</a>] [<a href="https://doi.org/10.1056/NEJM199810223391707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9780343">Trauner et al. (1998)</a> reviewed the molecular changes in the hepatocellular transport systems in patients with cholestatic disorders. PFIC1 and PFIC2 were associated with low serum gamma-glutamyltransferase concentrations; the concentration of this enzyme was high in PFIC3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9780343" 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="#31" class="mim-tip-reference" title="Oshima, T., Ikeda, K., Takasaka, T. <strong>Sensorineural hearing loss associated with Byler disease.</strong> Tohoku J. Exp. Med. 187: 83-88, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10458497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10458497</a>] [<a href="https://doi.org/10.1620/tjem.187.83" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10458497">Oshima et al. (1999)</a> described 2 sibs with Byler disease and congenital sensorineural hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10458497" 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="#21" class="mim-tip-reference" title="Klomp, L. W. J., Bull, L. N., Knisely, A. S., van der Doelen, M. A. M., Juijn, J. A., Berger, R., Forget, S., Nielsen, I.-M., Eiberg, H., Houwen, R. H. J. <strong>A missense mutation in FIC1 is associated with Greenland familial cholestasis.</strong> Hepatology 32: 1337-1341, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11093741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11093741</a>] [<a href="https://doi.org/10.1053/jhep.2000.20520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11093741">Klomp et al. (2000)</a> found that liver specimens from 3 Inuit patients with PFIC showed bland canalicular cholestasis. Transmission electron microscopy showed coarsely granular bile similar to that described in Amish patients with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11093741" 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="#28" 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 BRIC, respectively, 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>By linkage analysis and homozygosity mapping of the extended Amish kindred in which Byler disease was originally described, <a href="#7" class="mim-tip-reference" title="Carlton, V. E. H., Knisely, A. S., Freimer, N. B. <strong>Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.</strong> Hum. Molec. Genet. 4: 1049-1053, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7655458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7655458</a>] [<a href="https://doi.org/10.1093/hmg/4.6.1049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7655458">Carlton et al. (1995)</a> mapped the disease locus, which they symbolized PFIC, to chromosome 18q21-q22. This region was identified by finding shared segments in 2 distantly related Old Order Amish PFIC patients. <a href="#7" class="mim-tip-reference" title="Carlton, V. E. H., Knisely, A. S., Freimer, N. B. <strong>Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.</strong> Hum. Molec. Genet. 4: 1049-1053, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7655458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7655458</a>] [<a href="https://doi.org/10.1093/hmg/4.6.1049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7655458">Carlton et al. (1995)</a> noted that a locus for benign recurrent intrahepatic cholestasis had been mapped to the same region, and suggested that BRIC and PFIC are allelic disorders. Both the clinical and biochemical features of both disorders suggested a defect in primary bile acid secretion. The 19-cM candidate region was located between markers D18S41 and D18S68. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7655458" 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="Eiberg, H., Nielsen, I.-M. <strong>Linkage studies of cholestasis familiaris Groenlandica/Byler-like disease with polymorphic protein and blood group markers.</strong> Hum. Hered. 43: 250-256, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8344670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8344670</a>] [<a href="https://doi.org/10.1159/000154139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8344670">Eiberg and Nielsen (1993)</a> studied linkage to 45 polymorphic protein markers in Eskimo children from Greenland with Byler disease. <a href="#12" class="mim-tip-reference" title="Eiberg, H., Nielsen, I.-M. <strong>Linkage of cholestasis familiaris Groenlandica/Byler-like disease to chromosome 18.</strong> Int. J. Circumpolar Health 59: 57-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10850008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10850008</a>]" pmid="10850008">Eiberg and Nielsen (2000)</a> demonstrated linkage of Byler disease in Greenland Eskimo children to chromosome 18q between markers D18S851 and D18S858 (multipoint lod score of 3.25). Different haplotypes were associated with the disease gene among Inuits in west Greenland, raising the possibility of locus heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8344670+10850008" 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>The transmission pattern of PFIC1 in the patients reported by <a href="#6" 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> was consistent with autosomal recessive inheritance. <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>
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<p>In patients with PFIC1, <a href="#6" 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 homozygous or compound heterozygous mutations in the ATP8B1 gene (<a href="/entry/602397#0001">602397.0001</a>-<a href="/entry/602397#0005">602397.0005</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'})"><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 Inuit patients with PFIC from Greenland and Canada, <a href="#21" class="mim-tip-reference" title="Klomp, L. W. J., Bull, L. N., Knisely, A. S., van der Doelen, M. A. M., Juijn, J. A., Berger, R., Forget, S., Nielsen, I.-M., Eiberg, H., Houwen, R. H. J. <strong>A missense mutation in FIC1 is associated with Greenland familial cholestasis.</strong> Hepatology 32: 1337-1341, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11093741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11093741</a>] [<a href="https://doi.org/10.1053/jhep.2000.20520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11093741">Klomp et al. (2000)</a> identified a homozygous mutation in the ATP8B1 gene (<a href="/entry/602397#0008">602397.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11093741" 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="#22" class="mim-tip-reference" title="Klomp, L. W. J., Vargas, J. C., van Mil, S. W. C., Pawlikowska, L., Strautnieks, S. S., van Eijk, M. J. T., Juijn, J. A., Pabon-Pena, C., Smith, L. B., DeYoung, J. A., Byrne, J. A., Gombert, J., van der Brugge, G., Berger, R., Jankowska, I., Pawlowska, J., Villa, E., Knisely, A. S., Thompson, R. J., Freimer, N. B., Houwen, R. H. J., Bull, L. N. <strong>Characterization of mutations in ATP8B1 associated with hereditary cholestasis.</strong> Hepatology 40: 27-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15239083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15239083</a>] [<a href="https://doi.org/10.1002/hep.20285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15239083">Klomp et al. (2004)</a> identified 36 distinct mutations in the ATP8B1 gene in 39 (30%) of 130 PFIC families. Twenty-five of the mutations were detected in only 1 family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15239083" 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="#Arnell1997" class="mim-tip-reference" title="Arnell, H., Nemeth, A., Anneren, G., Dahl, N. <strong>Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.</strong> Hum. Genet. 100: 378-381, 1997.">Arnell et al. (1997)</a>; <a href="#Ballow1973" class="mim-tip-reference" title="Ballow, M., Margolis, C. Z., Schachtel, B., Hsia, Y. E. <strong>Progressive familial intrahepatic cholestasis.</strong> Pediatrics 51: 998-1007, 1973.">Ballow et al. (1973)</a>; <a href="#Bidot-Lopez1979" class="mim-tip-reference" title="Bidot-Lopez, P., Labrecque, D. R., Hsia, Y. E., Riely, C. A. <strong>A study of inheritance in progressive intrahepatic cholestasis: hepatic excretory function in unaffected family members.</strong> Pediat. Res. 13: 1002-1005, 1979.">Bidot-Lopez et al.
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(1979)</a>; <a href="#Ghent1978" class="mim-tip-reference" title="Ghent, C. N., Bloomer, J. R., Hsia, Y. E. <strong>Efficacy and safety of long-term phenobarbital therapy in familial cholestasis.</strong> J. Pediat. 93: 127-132, 1978.">Ghent et al. (1978)</a>; <a href="#Juberg1966" class="mim-tip-reference" title="Juberg, R. C., Holland-Moritz, R. M., Henley, K. S., Gonzalez, C. F. <strong>Familial intrahepatic cholestasis with mental and growth retardation.</strong> Pediatrics 38: 819-836, 1966.">Juberg et al. (1966)</a>; <a href="#Linarelli1972" class="mim-tip-reference" title="Linarelli, L. D., Williams, C. N., Phillips, M. J. <strong>Byler's disease: fatal intrahepatic cholestasis.</strong> J. Pediat. 81: 484-492, 1972.">Linarelli et al.
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(1972)</a>; <a href="#Lloyd-Still1981" class="mim-tip-reference" title="Lloyd-Still, J. D. <strong>Familial cholestasis with elevated sweat electrolyte concentrations.</strong> J. Pediat. 99: 580-583, 1981.">Lloyd-Still (1981)</a>; <a href="#Saito1982" class="mim-tip-reference" title="Saito, K., Yokoyama, T., Okaniwa, M., Kamoshita, S. <strong>Neuropathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis.</strong> Acta Neuropath. 58: 187-192, 1982.">Saito et al. (1982)</a>; <a href="#Sokol1985" class="mim-tip-reference" title="Sokol, R. J., Guggenheim, M. A., Iannaccone, S. T., Barkhaus, P. E., Miller, C., Silverman, A., Balistreri, W. F., Heubi, J. E. <strong>Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis.</strong> New Eng. J. Med. 313: 1580-1586, 1985.">Sokol et al. (1985)</a>; <a href="#Ugarte1981" class="mim-tip-reference" title="Ugarte, N., Gonzalez-Crussi, F. <strong>Hepatoma in siblings with progressive familial cholestatic cirrhosis of childhood.</strong> Am. J. Clin. Path. 76: 172-177, 1981.">Ugarte and Gonzalez-Crussi (1981)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1097/00005176-199402000-00002" target="_blank">Full Text</a>]
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<a id="Arnell1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1007/s004390050519" target="_blank">Full Text</a>]
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<a id="Ballow1973" class="mim-anchor"></a>
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<a id="Bidot-Lopez1979" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1203/00006450-197909000-00010" target="_blank">Full Text</a>]
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<a id="Bourke1996" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8976662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8976662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8976662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.75.3.223" target="_blank">Full Text</a>]
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<a id="Bull1998" class="mim-anchor"></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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[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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[<a href="https://doi.org/10.1038/ng0398-219" target="_blank">Full Text</a>]
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<a id="Carlton1995" class="mim-anchor"></a>
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<div class="">
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Carlton, V. E. H., Knisely, A. S., Freimer, N. B.
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<strong>Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.</strong>
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Hum. Molec. Genet. 4: 1049-1053, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7655458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7655458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7655458" 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/10.1093/hmg/4.6.1049" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Clayton1965" class="mim-anchor"></a>
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<div class="">
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Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A.
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<strong>Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. (Abstract)</strong>
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<a id="9" class="mim-anchor"></a>
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<a id="Clayton1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A.
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<strong>Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred.</strong>
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Am. J. Dis. Child. 117: 112-124, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5762004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="De Vos1975" class="mim-anchor"></a>
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<strong>Progressive intrahepatic cholestasis (Byler's disease): case report.</strong>
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Gut 16: 943-950, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1218817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1218817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1218817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/gut.16.12.943" target="_blank">Full Text</a>]
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<a id="Eiberg1993" class="mim-anchor"></a>
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<strong>Linkage studies of cholestasis familiaris Groenlandica/Byler-like disease with polymorphic protein and blood group markers.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8344670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8344670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8344670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000154139" target="_blank">Full Text</a>]
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<a id="Eiberg2000" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10850008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10850008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10850008" 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="Ghent1978" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/650323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">650323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=650323" 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/s0022-3476(78)80625-8" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Gray1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gray, O. P., Saunders, R. A.
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<strong>Familial intrahepatic cholestatic jaundice in infancy.</strong>
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Arch. Dis. Child. 41: 320-328, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5940621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5940621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5940621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.41.217.320" target="_blank">Full Text</a>]
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<a id="Hirooka1968" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1620/tjem.94.293" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Jacquemin1994" class="mim-anchor"></a>
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<div class="">
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Jacquemin, E., Dumont, M., Bernard, O., Erlinger, S., Hadchouel, M.
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<strong>Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088298" 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/BF01983406" target="_blank">Full Text</a>]
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<a id="Jones1976" class="mim-anchor"></a>
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Jones, E. A., Rabin, L., Buckley, H., Webster, G. K., Owens, D.
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<strong>Progressive intrahepatic cholestasis of infancy and childhood: a clinicopathological study of a patient surviving to the age of 18 years.</strong>
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<a id="Trauner1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trauner, M., Meier, P. J., Boyer, J. L.
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<strong>Molecular pathogenesis of cholestasis.</strong>
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New Eng. J. Med. 339: 1217-1227, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9780343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9780343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9780343" 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/NEJM199810223391707" target="_blank">Full Text</a>]
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<a id="Ugarte1981" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ugarte, N., Gonzalez-Crussi, F.
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<strong>Hepatoma in siblings with progressive familial cholestatic cirrhosis of childhood.</strong>
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Am. J. Clin. Path. 76: 172-177, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6267930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6267930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6267930" 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/10.1093/ajcp/76.2.172" target="_blank">Full Text</a>]
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Whitington, P. F., Freese, D. K., Alonso, E. M., Schwarzenberg, S. J., Sharp, H. L.
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<strong>Clinical and biochemical findings in progressive familial intrahepatic cholestasis.</strong>
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J. Pediat. Gastroent. Nutr. 18: 134-141, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7912266" 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/10.1097/00005176-199402000-00003" target="_blank">Full Text</a>]
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<a id="Williams1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, C. N., Kaye, R., Baker, L., Hurwitz, R., Senior, J. R.
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<strong>Progressive familial cholestatic cirrhosis and bile acid metabolism.</strong>
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J. Pediat. 81: 493-500, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5049818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5049818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5049818" 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/s0022-3476(72)80175-6" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/6/2012
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Cassandra L. Kniffin - reorganized : 6/15/2006<br>Cassandra L. Kniffin - updated : 6/6/2006<br>Ada Hamosh - updated : 5/7/2003<br>Victor A. McKusick - updated : 2/11/2002<br>Victor A. McKusick - updated : 4/9/2001<br>Victor A. McKusick - updated : 7/19/1999<br>Victor A. McKusick - updated : 2/24/1998<br>Clair A. Francomano - updated : 10/22/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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alopez : 09/27/2024
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ckniffin : 09/25/2024<br>carol : 04/03/2024<br>carol : 04/02/2024<br>alopez : 08/18/2022<br>carol : 06/17/2022<br>alopez : 05/10/2022<br>ckniffin : 05/09/2022<br>alopez : 05/06/2022<br>ckniffin : 05/04/2022<br>alopez : 04/27/2022<br>ckniffin : 04/21/2022<br>carol : 03/02/2022<br>carol : 03/01/2022<br>alopez : 12/15/2021<br>ckniffin : 12/13/2021<br>carol : 08/13/2021<br>carol : 07/27/2016<br>carol : 07/27/2016<br>ckniffin : 07/25/2016<br>carol : 07/06/2016<br>carol : 7/10/2014<br>ckniffin : 7/9/2014<br>carol : 12/7/2012<br>ckniffin : 12/6/2012<br>terry : 10/14/2010<br>carol : 12/4/2008<br>carol : 12/2/2008<br>mgross : 10/7/2008<br>terry : 8/9/2007<br>carol : 6/15/2006<br>ckniffin : 6/6/2006<br>alopez : 5/8/2003<br>terry : 5/7/2003<br>carol : 2/15/2002<br>terry : 2/11/2002<br>mcapotos : 4/11/2001<br>mcapotos : 4/9/2001<br>terry : 4/9/2001<br>carol : 9/12/2000<br>carol : 1/28/2000<br>mgross : 11/10/1999<br>carol : 11/8/1999<br>carol : 11/8/1999<br>carol : 7/23/1999<br>carol : 7/23/1999<br>terry : 7/19/1999<br>carol : 12/8/1998<br>alopez : 2/27/1998<br>terry : 2/24/1998<br>alopez : 11/13/1997<br>alopez : 11/5/1997<br>dholmes : 10/22/1997<br>alopez : 6/10/1997<br>mark : 12/18/1996<br>mark : 12/10/1996<br>terry : 11/13/1996<br>mark : 7/13/1995<br>mimadm : 4/15/1994<br>carol : 9/10/1993<br>carol : 8/31/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<strong>#</strong> 211600
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CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
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<em>Alternative titles; symbols</em>
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BYLER DISEASE
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<strong>SNOMEDCT:</strong> 1155913007;
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<strong>ORPHA:</strong> 172, 79306;
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<strong>DO:</strong> 0070226;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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18q21.31
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Cholestasis, progressive familial intrahepatic 1
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211600
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Autosomal recessive
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<span class="mim-font">
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3
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ATP8B1
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602397
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because progressive familial intrahepatic cholestasis-1 (PFIC1) is caused by homozygous or compound heterozygous mutation in the ATP8B1 gene (602397) on chromosome 18q21.</p><p>Mutation in the ATP8B1 gene can also cause benign recurrent intrahepatic cholestasis-1 (BRIC1; 243300) and intrahepatic cholestasis of pregnancy-1 (ICP1; 147480).</p>
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<strong>Description</strong>
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<p>Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). </p><p><strong><em>Genetic Heterogeneity of Progressive Familial Intrahepatic Cholestasis</em></strong></p><p>
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PFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (601847), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11; 603201) on chromosome 2q24; PFIC3 (602347), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4; 171060) on chromosome 7q21; PFIC4 (615878), caused by mutation in the TJP2 gene (607709) on chromosome 9q12; PFIC5 (617049), caused by mutation in the NR1H4 gene (603826) on chromosome 12q23; PFIC6 (619484), caused by mutation in the SLC51A gene (612084) on chromosome 3q29; PFIC7 (619658), caused by mutation in the USP53 gene (617431) on chromosome 4q26; PFIC8 (619662), caused by mutation in the KIF12 gene (611278) on chromosome 9q32; PFIC9 (619849), caused by mutation in the ZFYVE19 gene (619635) on chromosome 15q15; PFIC10 (619868), caused by mutation in the MYO5B gene (606540) on chromosome 18q21; PFIC11 (619874), caused by mutation in the SEMA7A gene (607961) on chromosome 15q24; PFIC12 (620010), caused by mutation in the VPS33B gene (608552) on chromosome 15q26; and PFIC13 (620962) is caused by mutation in the PSKH1 gene (177015) on chromosome 16q22.</p><p>PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see 612346), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage (Maggiore et al. (1987, 1991)). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels. PFIC8 and PFIC9 are associated with high GGT levels. </p><p>There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (607765).</p>
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<strong>Clinical Features</strong>
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<p>In the Old Order Amish, Clayton et al. (1965, 1969) described a severe form of intrahepatic cholestasis leading to death in the first decade of life. The main clinical features were early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, impaired growth with short stature, and in 4 of 6 cases, death between 17 months and 8 years. One mother had extreme pruritus without jaundice in the last trimester of each of 4 pregnancies, consistent with ICP. Two fathers had reduced maximum excretion of sulfobromophthalein. Treatment with cholestyramine, a bile-salt-sequestering exchange resin, reduced the hyperbilirubinemia. Because the bile showed an increased proportion of dihydroxy bile salts as well as the early onset of changes in the stool and the response to cholestyramine, a defect in bile salt metabolism was postulated. </p><p>Kaye (1965) studied 3 sibs with intrahepatic cholestasis in which itching predated jaundice, which began by 2 or 3 years of age. One sib died at about 7 years of age and 2 were still alive at ages of about 5 and 10. Cholestyramine had no benefit. These patients were later reported by Williams et al. (1972). The same condition was probably described by Gray and Saunders (1966) in 2 sisters who died under 3 years of age and in a patient reported by Hirooka and Ohno (1968). Toussaint and Gros (1966) reported affected brothers. Landing (1972) suggested that hepatoma may be a terminal event in some patients with PFIC. </p><p>De Vos et al. (1975) reported a child with Byler disease. Liver biopsy showed intrahepatic cholestasis, and electron microscopy showed interruptions of the bile canalicular membrane. The findings suggested a primary disturbance in bile acid secretion as the cause of cholestasis. </p><p>Kaplinsky et al. (1980) described a brother and sister with pruritus since infancy who developed cholestatic hepatic cirrhosis early in life. Although the boy had Kayser-Fleischer rings, further studies excluded Wilson disease (277900). Determination of the concentrations and patterns of bile acids in the serum indicated a defect in bile acid transport, not bile acid synthesis. Some of the clinical features resembled those described by Jones et al. (1976). Differences from Byler disease were the absence of steatorrhea and physical retardation and survival beyond puberty in 1 sib. </p><p>Nielsen et al. (1986) described Byler disease in 16 Greenland Eskimo children. Typical features included jaundice, pruritus, malnutrition, steatorrhea, osteodystrophy, short stature, and hyperbilirubinemia. Eight patients had died between the ages of 6 weeks and 3 years. The pedigrees were consistent with autosomal recessive inheritance. Liver biopsy showed nonspecific cholestatic features (Ornvold et al., 1989). </p><p>Whitington et al. (1994) reported 33 patients with PFIC. Symptoms developed almost invariably before 6 months of age with severe pruritus and moderate jaundice. Serum levels of gamma-GGT and cholesterol were not elevated. Twenty-six patients had either partial biliary diversion or orthotopic liver transplantation. Seven patients died at a mean age of 3.9 years from liver failure, hepatocellular carcinoma, or complications of liver transplantation. </p><p>Jacquemin et al. (1994) found that total bile acid concentration was decreased in the bile of 7 children with Byler disease compared to children with other cholestatic diseases. Total bile acid concentration in serum was similar between the 2 groups. Jacquemin et al. (1994) concluded that Byler disease is caused by a defect in primary bile acid secretion. </p><p>In liver biopsies from 28 patients with PFIC and low GGT1 levels, Alonso et al. (1994) found canalicular cholestasis and disruption of the liver cell plate. Giant cell transformation was present in 56% of initial biopsies. Bile duct loss was a prominent and early finding and many biopsies had abnormal bile duct epithelium. Other features included bridging fibrosis, cirrhosis, and pseudoacinar transformation. Mallory hyaline bodies and hepatocellular carcinoma were observed in some patients with advanced cirrhosis. </p><p>Bourke et al. (1996) reported familial cholestasis resembling Byler disease in 8 children in 2 sibships related as first cousins in a highly intermarried group of Irish Travellers, an indigenous Irish nomadic community. The children had a history of neonatal diarrhea, sepsis, and intermittent jaundice that ultimately became permanent. They suffered from intractable pruritus and growth retardation. Despite evidence of severe cholestasis, serum gamma-glutamyltransferase and cholesterol concentrations were normal. Sweat sodium concentrations were raised in 3 children. </p><p>Trauner et al. (1998) reviewed the molecular changes in the hepatocellular transport systems in patients with cholestatic disorders. PFIC1 and PFIC2 were associated with low serum gamma-glutamyltransferase concentrations; the concentration of this enzyme was high in PFIC3. </p><p>Oshima et al. (1999) described 2 sibs with Byler disease and congenital sensorineural hearing loss. </p><p>Klomp et al. (2000) found that liver specimens from 3 Inuit patients with PFIC showed bland canalicular cholestasis. Transmission electron microscopy showed coarsely granular bile similar to that described in Amish patients with the disorder. </p>
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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>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 BRIC, respectively, 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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis and homozygosity mapping of the extended Amish kindred in which Byler disease was originally described, Carlton et al. (1995) mapped the disease locus, which they symbolized PFIC, to chromosome 18q21-q22. This region was identified by finding shared segments in 2 distantly related Old Order Amish PFIC patients. Carlton et al. (1995) noted that a locus for benign recurrent intrahepatic cholestasis had been mapped to the same region, and suggested that BRIC and PFIC are allelic disorders. Both the clinical and biochemical features of both disorders suggested a defect in primary bile acid secretion. The 19-cM candidate region was located between markers D18S41 and D18S68. </p><p>Eiberg and Nielsen (1993) studied linkage to 45 polymorphic protein markers in Eskimo children from Greenland with Byler disease. Eiberg and Nielsen (2000) demonstrated linkage of Byler disease in Greenland Eskimo children to chromosome 18q between markers D18S851 and D18S858 (multipoint lod score of 3.25). Different haplotypes were associated with the disease gene among Inuits in west Greenland, raising the possibility of locus heterogeneity. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of PFIC1 in the patients reported by Bull et al. (1998) was consistent with autosomal recessive inheritance. </p>
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</span>
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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 PFIC1, Bull et al. (1998) identified homozygous or compound heterozygous mutations in the ATP8B1 gene (602397.0001-602397.0005). </p><p>In Inuit patients with PFIC from Greenland and Canada, Klomp et al. (2000) identified a homozygous mutation in the ATP8B1 gene (602397.0008). </p><p>Klomp et al. (2004) identified 36 distinct mutations in the ATP8B1 gene in 39 (30%) of 130 PFIC families. Twenty-five of the mutations were detected in only 1 family. </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">
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Arnell et al. (1997); Ballow et al. (1973); Bidot-Lopez et al.
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(1979); Ghent et al. (1978); Juberg et al. (1966); Linarelli et al.
|
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(1972); Lloyd-Still (1981); Saito et al. (1982); Sokol et al. (1985);
|
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Ugarte and Gonzalez-Crussi (1981)
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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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Alonso, E. M., Snover, D. C., Montag, A., Freese, D. K., Whitington, P. F.
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<strong>Histologic pathology of the liver in progressive familial intrahepatic cholestasis.</strong>
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J. Pediat. Gastroent. Nutr. 18: 128-133, 1994.
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[PubMed: 8014759]
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[Full Text: https://doi.org/10.1097/00005176-199402000-00002]
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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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Arnell, H., Nemeth, A., Anneren, G., Dahl, N.
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<strong>Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.</strong>
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Hum. Genet. 100: 378-381, 1997.
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[PubMed: 9272158]
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[Full Text: https://doi.org/10.1007/s004390050519]
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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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Ballow, M., Margolis, C. Z., Schachtel, B., Hsia, Y. E.
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<strong>Progressive familial intrahepatic cholestasis.</strong>
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Pediatrics 51: 998-1007, 1973.
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[PubMed: 4710460]
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</p>
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</li>
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<p class="mim-text-font">
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Bidot-Lopez, P., Labrecque, D. R., Hsia, Y. E., Riely, C. A.
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<strong>A study of inheritance in progressive intrahepatic cholestasis: hepatic excretory function in unaffected family members.</strong>
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Pediat. Res. 13: 1002-1005, 1979.
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[PubMed: 503649]
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[Full Text: https://doi.org/10.1203/00006450-197909000-00010]
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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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Bourke, B., Goggin, N., Walsh, D., Kennedy, S., Setchell, K. D. R., Drumm, B.
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<strong>Byler-like familial cholestasis in an extended kindred.</strong>
|
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Arch. Dis. Child. 75: 223-227, 1996. Note: Erratum: Arch. Dis. Child. 75: 548 only, 1996.
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[PubMed: 8976662]
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[Full Text: https://doi.org/10.1136/adc.75.3.223]
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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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<p class="mim-text-font">
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Carlton, V. E. H., Knisely, A. S., Freimer, N. B.
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<strong>Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.</strong>
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Hum. Molec. Genet. 4: 1049-1053, 1995.
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[PubMed: 7655458]
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[Full Text: https://doi.org/10.1093/hmg/4.6.1049]
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</p>
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<p class="mim-text-font">
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Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A.
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<strong>Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. (Abstract)</strong>
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J. Pediat. 67: 1025-1028, 1965.
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</p>
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<p class="mim-text-font">
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Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A.
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<strong>Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred.</strong>
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Am. J. Dis. Child. 117: 112-124, 1969.
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[PubMed: 5762004]
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<p class="mim-text-font">
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De Vos, R., de Wolf-Peeters, C., Desmet, V., Eggermont, E., Van Acker, K.
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<strong>Progressive intrahepatic cholestasis (Byler's disease): case report.</strong>
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Gut 16: 943-950, 1975.
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[PubMed: 1218817]
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[Full Text: https://doi.org/10.1136/gut.16.12.943]
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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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Eiberg, H., Nielsen, I.-M.
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<strong>Linkage studies of cholestasis familiaris Groenlandica/Byler-like disease with polymorphic protein and blood group markers.</strong>
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Hum. Hered. 43: 250-256, 1993.
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[PubMed: 8344670]
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[Full Text: https://doi.org/10.1159/000154139]
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</p>
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<li>
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<p class="mim-text-font">
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Eiberg, H., Nielsen, I.-M.
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<strong>Linkage of cholestasis familiaris Groenlandica/Byler-like disease to chromosome 18.</strong>
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Int. J. Circumpolar Health 59: 57-62, 2000.
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[PubMed: 10850008]
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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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Ghent, C. N., Bloomer, J. R., Hsia, Y. E.
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<strong>Efficacy and safety of long-term phenobarbital therapy in familial cholestasis.</strong>
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J. Pediat. 93: 127-132, 1978.
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[PubMed: 650323]
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[Full Text: https://doi.org/10.1016/s0022-3476(78)80625-8]
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</p>
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<li>
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<p class="mim-text-font">
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Gray, O. P., Saunders, R. A.
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<strong>Familial intrahepatic cholestatic jaundice in infancy.</strong>
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Arch. Dis. Child. 41: 320-328, 1966.
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[PubMed: 5940621]
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[Full Text: https://doi.org/10.1136/adc.41.217.320]
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</p>
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<li>
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<p class="mim-text-font">
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Hirooka, M., Ohno, T.
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<strong>A case of familial intrahepatic cholestasis.</strong>
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Tohoku J. Exp. Med. 94: 293-306, 1968.
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[PubMed: 4175258]
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[Full Text: https://doi.org/10.1620/tjem.94.293]
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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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Jacquemin, E., Dumont, M., Bernard, O., Erlinger, S., Hadchouel, M.
|
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<strong>Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease).</strong>
|
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Europ. J. Pediat. 153: 424-428, 1994.
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[PubMed: 8088298]
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[Full Text: https://doi.org/10.1007/BF01983406]
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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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Jones, E. A., Rabin, L., Buckley, H., Webster, G. K., Owens, D.
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<strong>Progressive intrahepatic cholestasis of infancy and childhood: a clinicopathological study of a patient surviving to the age of 18 years.</strong>
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Gastroenterology 71: 675-682, 1976.
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[PubMed: 955355]
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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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Juberg, R. C., Holland-Moritz, R. M., Henley, K. S., Gonzalez, C. F.
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<strong>Familial intrahepatic cholestasis with mental and growth retardation.</strong>
|
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Pediatrics 38: 819-836, 1966.
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[PubMed: 5954222]
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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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Kaplinsky, C., Sternlieb, I., Javitt, N., Rotem, Y.
|
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<strong>Familial cholestatic cirrhosis associated with Kayser-Fleischer rings.</strong>
|
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Pediatrics 65: 782-788, 1980.
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[PubMed: 7367085]
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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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Kaye, R.
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<strong>Comments.</strong>
|
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J. Pediat. 67: 1027-1028, 1965.
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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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Klomp, L. W. J., Bull, L. N., Knisely, A. S., van der Doelen, M. A. M., Juijn, J. A., Berger, R., Forget, S., Nielsen, I.-M., Eiberg, H., Houwen, R. H. J.
|
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<strong>A missense mutation in FIC1 is associated with Greenland familial cholestasis.</strong>
|
|
Hepatology 32: 1337-1341, 2000.
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|
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[PubMed: 11093741]
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[Full Text: https://doi.org/10.1053/jhep.2000.20520]
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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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Klomp, L. W. J., Vargas, J. C., van Mil, S. W. C., Pawlikowska, L., Strautnieks, S. S., van Eijk, M. J. T., Juijn, J. A., Pabon-Pena, C., Smith, L. B., DeYoung, J. A., Byrne, J. A., Gombert, J., van der Brugge, G., Berger, R., Jankowska, I., Pawlowska, J., Villa, E., Knisely, A. S., Thompson, R. J., Freimer, N. B., Houwen, R. H. J., Bull, L. N.
|
|
<strong>Characterization of mutations in ATP8B1 associated with hereditary cholestasis.</strong>
|
|
Hepatology 40: 27-38, 2004.
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[PubMed: 15239083]
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[Full Text: https://doi.org/10.1002/hep.20285]
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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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Landing, B. H.
|
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<strong>Personal Communication.</strong>
|
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Los Angeles, Calif. 1972.
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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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Linarelli, L. D., Williams, C. N., Phillips, M. J.
|
|
<strong>Byler's disease: fatal intrahepatic cholestasis.</strong>
|
|
J. Pediat. 81: 484-492, 1972.
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[PubMed: 5049817]
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[Full Text: https://doi.org/10.1016/s0022-3476(72)80174-4]
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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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Lloyd-Still, J. D.
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<strong>Familial cholestasis with elevated sweat electrolyte concentrations.</strong>
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