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Entry
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- #237450 - HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
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- OMIM
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<p>
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<span class="h4">#237450</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/237450"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS237450"> <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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<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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<li role="presentation">
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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><a href="https://clinicaltrials.gov/search?cond=HYPERBILIRUBINEMIA, ROTOR TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=882&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK114805/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6364" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/rotor-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=237450[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3111" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000142,000495,002755" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 32891000<br />
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<strong>ICD10CM:</strong> E80.6<br />
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<strong>ORPHA:</strong> 3111<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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237450
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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ROTOR SYNDROME
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/12/219?start=-3&limit=10&highlight=219">
|
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12p12.2
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Hyperbilirubinemia, Rotor type, digenic
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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/237450"> 237450 </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="Digenic recessive">DR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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SLCO1B3
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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/605495"> 605495 </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/12/220?start=-3&limit=10&highlight=220">
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12p12.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hyperbilirubinemia, Rotor type, digenic
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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/237450"> 237450 </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="Digenic recessive">DR</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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SLCO1B1
|
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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/604843"> 604843 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/237450" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS237450" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/237450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/237450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</div>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Digenic recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865278</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ABDOMEN </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Liver </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Hyperbilirubinemia, conjugated <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><br /> -
|
|
Lack of abnormal hepatic pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278366</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
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<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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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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">
|
|
|
|
- Delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278367</a>]</span><br /> -
|
|
Increased urinary excretion of coproporphyrin I <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278368</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
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|
</div>
|
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|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy or childhood<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 simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1B1 gene (SLCO1B1, <a href="/entry/604843#0001">604843.0001</a>) and the solute carrier organic anion transporter family, member 1B3 gene (SLCO1B3, <a href="/entry/605495#0001">605495.0001</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">
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hyperbilirubinemia
|
|
- <a href="/phenotypicSeries/PS237450">PS237450</a>
|
|
- 7 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/2/1138?start=-3&limit=10&highlight=1138"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606785"> Crigler-Najjar syndrome, type II </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/606785"> 606785 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> UGT1A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> 191740 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1138?start=-3&limit=10&highlight=1138"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/237900"> Hyperbilirubinemia, familial transient neonatal </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/237900"> 237900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> UGT1A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> 191740 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1138?start=-3&limit=10&highlight=1138"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/218800"> Crigler-Najjar syndrome, type I </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/218800"> 218800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> UGT1A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191740"> 191740 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1138?start=-3&limit=10&highlight=1138"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/143500"> [Gilbert syndrome] </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">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (<a href="/entry/604843">604843</a>) and SLCO1B3 (<a href="/entry/605495">605495</a>) genes, which are located near each other on chromosome 12p.</p>
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<p>The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; <a href="/entry/237500">237500</a>) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by <a href="#4" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" 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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<strong>Clinical Features</strong>
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<p>Because of clinical similarities, the Rotor and Dubin-Johnson syndromes were initially considered to be the same entity. However, studies of urinary coproporphyrin excretion (<a href="#5" class="mim-tip-reference" title="Wolkoff, A. W., Wolpert, E., Pascasio, F. N., Arias, I. M. <strong>Rotor's syndrome: a distinct inheritable pathophysiologic entity.</strong> Am. J. Med. 60: 173-179, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/766621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">766621</a>] [<a href="https://doi.org/10.1016/0002-9343(76)90426-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="766621">Wolkoff et al., 1976</a>) and sulfobromophthalein excretion (<a href="#6" class="mim-tip-reference" title="Wolpert, E., Pascasio, F. M., Wolkoff, A. W., Arias, I. M. <strong>Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes.</strong> New Eng. J. Med. 296: 1099-1101, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/850521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">850521</a>] [<a href="https://doi.org/10.1056/NEJM197705122961907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="850521">Wolpert et al., 1977</a>) in the 2 disorders indicated that they were separate entities. Unlike Dubin-Johnson syndrome, Rotor syndrome shows no abnormal hepatic pigmentation and oral cholecystography is often normal. Total coproporphyrin excretion in the urine is markedly increased in Rotor syndrome. Dubin-Johnson patients excreted 88.9% as coproporphyrin I, whereas this value was 64.8% in Rotor homozygotes and 42.9% in Rotor heterozygotes. The standard errors of these values were such that the differences were highly significant (<a href="#5" class="mim-tip-reference" title="Wolkoff, A. W., Wolpert, E., Pascasio, F. N., Arias, I. M. <strong>Rotor's syndrome: a distinct inheritable pathophysiologic entity.</strong> Am. J. Med. 60: 173-179, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/766621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">766621</a>] [<a href="https://doi.org/10.1016/0002-9343(76)90426-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="766621">Wolkoff et al., 1976</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=850521+766621" 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>Three sibs from a first-cousin marriage were affected in the family reported by <a href="#2" class="mim-tip-reference" title="Pereira Lima, J. E., Utz, E., Roisenberg, I. <strong>Hereditary nonhemolytic conjugated hyperbilirubinemia without abnormal liver cell pigmentation. A family study.</strong> Am. J. Med. 40: 628-633, 1966."None>Pereira Lima et al. (1966)</a>, suggesting recessive inheritance.</p><p><a href="#1" class="mim-tip-reference" title="Dollinger, M. R., Brandborg, L. L., Sartor, V. E., Bernstein, J. M. <strong>Chronic familial hyperbilirubinemia. Hepatic defects associated with occult hemolysis.</strong> Gastroenterology 52: 875-881, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6024890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6024890</a>]" pmid="6024890">Dollinger et al. (1967)</a> observed a father and 3 of 5 children with what they considered to be Rotor syndrome; however, occult hemolysis was also present, which is not a feature of Rotor syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6024890" 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 homozygosity mapping of 8 families with Rotor syndrome, <a href="#4" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> found linkage to a single region on chromosome 12. Three distinct haplotypes were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 8 families with Rotor type hyperbilirubinemia, <a href="#4" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> identified 2 different homozygous mutations in 2 different genes: the SLCO1B1 gene (<a href="/entry/604843#0001">604843.0001</a>-<a href="/entry/604843#0003">604843.0003</a>) and the SLCO1B3 gene (<a href="/entry/605495#0001">605495.0001</a>-<a href="/entry/605495#0003">605495.0003</a>). Three of the families, who were Saudi Arabian, were homozygous for a 405-kb deletion on chromosome 12 encompassing exons 3 to 15 of SLCO1B3 (<a href="/entry/605495">605495</a>) and the whole of SLCO1B1, as well as homozygous for a splice site mutation in SLCO1B1 (<a href="/entry/604843#0002">604843.0002</a>). Immunostaining of patient liver biopsies showed absence of detectable staining for both of these proteins. Segregation patterns in the families indicated that the disorder can only be caused by complete and simultaneous deficiencies of these 2 genes, which mediate uptake and clearance of conjugated bilirubin across the hepatic sinusoidal membranes into bile. Screening of 2,300 additional individuals identified 1 without jaundice who was heterozygous for a truncating mutation in SLCO1B1 and also homozygous for a deletion in SLCO1B3; this demonstrated that a single functional SLCO1B1 allele can prevent the disorder. <a href="#4" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">Van de Steeg et al. (2012)</a> suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" 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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<strong>See Also:</strong>
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<span class="mim-text-font">
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<a href="#Schiff1959" class="mim-tip-reference" title="Schiff, L., Billing, B. H., Oikawa, Y. <strong>Familial nonhemolytic jaundice with conjugated bilirubin in the serum: a case study.</strong> New Eng. J. Med. 260: 1315-1318, 1959.">Schiff et al. (1959)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Dollinger1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dollinger, M. R., Brandborg, L. L., Sartor, V. E., Bernstein, J. M.
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<strong>Chronic familial hyperbilirubinemia. Hepatic defects associated with occult hemolysis.</strong>
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Gastroenterology 52: 875-881, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6024890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6024890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6024890" 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="Pereira Lima1966" class="mim-anchor"></a>
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<p class="mim-text-font">
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Pereira Lima, J. E., Utz, E., Roisenberg, I.
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<strong>Hereditary nonhemolytic conjugated hyperbilirubinemia without abnormal liver cell pigmentation. A family study.</strong>
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Am. J. Med. 40: 628-633, 1966.
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<a id="3" class="mim-anchor"></a>
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<a id="Schiff1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schiff, L., Billing, B. H., Oikawa, Y.
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<strong>Familial nonhemolytic jaundice with conjugated bilirubin in the serum: a case study.</strong>
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New Eng. J. Med. 260: 1315-1318, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13666961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13666961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13666961" 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/NEJM195906252602604" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="van de Steeg2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H.
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<strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong>
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J. Clin. Invest. 122: 519-528, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI59526" target="_blank">Full Text</a>]
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<a id="Wolkoff1976" class="mim-anchor"></a>
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Wolkoff, A. W., Wolpert, E., Pascasio, F. N., Arias, I. M.
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<strong>Rotor's syndrome: a distinct inheritable pathophysiologic entity.</strong>
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Am. J. Med. 60: 173-179, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/766621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">766621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=766621" 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/10.1016/0002-9343(76)90426-5" target="_blank">Full Text</a>]
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<a id="Wolpert1977" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wolpert, E., Pascasio, F. M., Wolkoff, A. W., Arias, I. M.
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<strong>Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes.</strong>
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New Eng. J. Med. 296: 1099-1101, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/850521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">850521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=850521" 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/NEJM197705122961907" target="_blank">Full Text</a>]
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Contributors:
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Cassandra L. Kniffin - updated : 1/11/2012
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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alopez : 07/24/2013
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terry : 7/13/2012<br>terry : 7/5/2012<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>joanna : 3/18/2004<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>marie : 1/7/1987
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<strong>#</strong> 237450
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HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
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ROTOR SYNDROME
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<strong>SNOMEDCT:</strong> 32891000;
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<strong>ICD10CM:</strong> E80.6;
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<strong>ORPHA:</strong> 3111;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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12p12.2
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Hyperbilirubinemia, Rotor type, digenic
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237450
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Digenic recessive
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<span class="mim-font">
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3
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SLCO1B3
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<span class="mim-font">
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605495
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12p12.1
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<span class="mim-font">
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Hyperbilirubinemia, Rotor type, digenic
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237450
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Digenic recessive
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3
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SLCO1B1
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<span class="mim-font">
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604843
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (604843) and SLCO1B3 (605495) genes, which are located near each other on chromosome 12p.</p>
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<strong>Description</strong>
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<p>The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; 237500) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012). </p>
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<strong>Clinical Features</strong>
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<p>Because of clinical similarities, the Rotor and Dubin-Johnson syndromes were initially considered to be the same entity. However, studies of urinary coproporphyrin excretion (Wolkoff et al., 1976) and sulfobromophthalein excretion (Wolpert et al., 1977) in the 2 disorders indicated that they were separate entities. Unlike Dubin-Johnson syndrome, Rotor syndrome shows no abnormal hepatic pigmentation and oral cholecystography is often normal. Total coproporphyrin excretion in the urine is markedly increased in Rotor syndrome. Dubin-Johnson patients excreted 88.9% as coproporphyrin I, whereas this value was 64.8% in Rotor homozygotes and 42.9% in Rotor heterozygotes. The standard errors of these values were such that the differences were highly significant (Wolkoff et al., 1976). </p>
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<strong>Inheritance</strong>
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<p>Three sibs from a first-cousin marriage were affected in the family reported by Pereira Lima et al. (1966), suggesting recessive inheritance.</p><p>Dollinger et al. (1967) observed a father and 3 of 5 children with what they considered to be Rotor syndrome; however, occult hemolysis was also present, which is not a feature of Rotor syndrome. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By homozygosity mapping of 8 families with Rotor syndrome, van de Steeg et al. (2012) found linkage to a single region on chromosome 12. Three distinct haplotypes were identified. </p>
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</span>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected members of 8 families with Rotor type hyperbilirubinemia, van de Steeg et al. (2012) identified 2 different homozygous mutations in 2 different genes: the SLCO1B1 gene (604843.0001-604843.0003) and the SLCO1B3 gene (605495.0001-605495.0003). Three of the families, who were Saudi Arabian, were homozygous for a 405-kb deletion on chromosome 12 encompassing exons 3 to 15 of SLCO1B3 (605495) and the whole of SLCO1B1, as well as homozygous for a splice site mutation in SLCO1B1 (604843.0002). Immunostaining of patient liver biopsies showed absence of detectable staining for both of these proteins. Segregation patterns in the families indicated that the disorder can only be caused by complete and simultaneous deficiencies of these 2 genes, which mediate uptake and clearance of conjugated bilirubin across the hepatic sinusoidal membranes into bile. Screening of 2,300 additional individuals identified 1 without jaundice who was heterozygous for a truncating mutation in SLCO1B1 and also homozygous for a deletion in SLCO1B3; this demonstrated that a single functional SLCO1B1 allele can prevent the disorder. Van de Steeg et al. (2012) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. </p>
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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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Schiff et al. (1959)
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</span>
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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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<p />
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<li>
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<p class="mim-text-font">
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Dollinger, M. R., Brandborg, L. L., Sartor, V. E., Bernstein, J. M.
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<strong>Chronic familial hyperbilirubinemia. Hepatic defects associated with occult hemolysis.</strong>
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Gastroenterology 52: 875-881, 1967.
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[PubMed: 6024890]
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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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Pereira Lima, J. E., Utz, E., Roisenberg, I.
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<strong>Hereditary nonhemolytic conjugated hyperbilirubinemia without abnormal liver cell pigmentation. A family study.</strong>
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Am. J. Med. 40: 628-633, 1966.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schiff, L., Billing, B. H., Oikawa, Y.
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<strong>Familial nonhemolytic jaundice with conjugated bilirubin in the serum: a case study.</strong>
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New Eng. J. Med. 260: 1315-1318, 1959.
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[PubMed: 13666961]
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[Full Text: https://doi.org/10.1056/NEJM195906252602604]
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</p>
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<li>
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<p class="mim-text-font">
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van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H.
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<strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong>
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J. Clin. Invest. 122: 519-528, 2012.
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[PubMed: 22232210]
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[Full Text: https://doi.org/10.1172/JCI59526]
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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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Wolkoff, A. W., Wolpert, E., Pascasio, F. N., Arias, I. M.
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<strong>Rotor's syndrome: a distinct inheritable pathophysiologic entity.</strong>
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Am. J. Med. 60: 173-179, 1976.
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[PubMed: 766621]
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[Full Text: https://doi.org/10.1016/0002-9343(76)90426-5]
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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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Wolpert, E., Pascasio, F. M., Wolkoff, A. W., Arias, I. M.
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<strong>Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes.</strong>
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New Eng. J. Med. 296: 1099-1101, 1977.
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[PubMed: 850521]
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[Full Text: https://doi.org/10.1056/NEJM197705122961907]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/11/2012
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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alopez : 07/24/2013<br>terry : 7/13/2012<br>terry : 7/5/2012<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>joanna : 3/18/2004<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>marie : 1/7/1987
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