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Entry
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- #205400 - TANGIER DISEASE; TGD
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- OMIM
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<p>
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<span class="h4">#205400</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/205400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</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="#populationGenetics">Population Genetics</a>
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<a href="#history">History</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>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=TANGIER DISEASE" 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=9288&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/NBK549920/" 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/6997" 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/tangier-disease" 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=205400[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=31150" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1388" 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/205400" 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://omia.org/OMIA000042/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:1388" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 15346004, 723579009<br />
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<strong>ICD10CM:</strong> E78.6<br />
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<strong>ORPHA:</strong> 31150<br />
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<strong>DO:</strong> 1388<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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205400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TANGIER DISEASE; TGD
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1<br />
|
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HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE<br />
|
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ANALPHALIPOPROTEINEMIA
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<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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</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/9/384?start=-3&limit=10&highlight=384">
|
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9q31.1
|
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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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Tangier disease
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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/205400"> 205400 </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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ABCA1
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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/600046"> 600046 </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/205400" 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')">
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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/205400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/205400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial diplegia due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749795</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001349</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Corneal opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
|
|
Decreased corneal sensation due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749796</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373433005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373433005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012155</a>]</span><br /> -
|
|
Cicatricial ectropion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28914006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28914006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155196</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025608</a>]</span><br /> -
|
|
Incomplete eyelid closure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1408730&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1408730</a>]</span><br /> -
|
|
Exposure keratopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14366000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14366000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.21</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/370.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">370.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339295</a>]</span><br /> -
|
|
Visual impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246635007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246635007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042798</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged, yellow-orange tonsils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749797</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Heart disease, premature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749803</a>]</span><br /> -
|
|
Myocardial infarction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926063</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span><br /> -
|
|
Left ventricular hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55827005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55827005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149721</a>, <a href="https://bioportal.bioontology.org/search?q=C3484363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3484363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coronary artery disease, premature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1293192009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1293192009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005181</a>]</span><br /> -
|
|
Atherosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38716007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38716007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">440</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004153</a>, <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002635</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<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">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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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>
|
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|
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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">
|
|
|
|
- Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dystrophic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87065009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87065009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L60.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L60.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008404" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008404</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distal loss of facial hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749802</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Distal muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844874</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Syringomyelia-like syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749792</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral axonal neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128208007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128208007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1263857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span><br /> -
|
|
Pain and temperature sensation loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749793</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749794</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">
|
|
|
|
- Decreased serum HDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span><br /> -
|
|
Decreased or absent apolipoprotein A-I <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749799</a>]</span><br /> -
|
|
Accumulation of cholesterol esters in various tissues <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749800</a>]</span><br /> -
|
|
Deficient efflux of intracellular cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749801</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
|
|
|
|
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|
|
|
|
<div>
|
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- Caused by mutation in the ATP-binding cassette, subfamily A, member 1 gene (ABCA1, <a href="/entry/600046#0001">600046.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Tangier disease (TGD) is caused by homozygous or compound heterozygous mutation in the ABCA1 gene (<a href="/entry/600046">600046</a>) on chromosome 9q31.</p><p>A more common form of genetic HDL deficiency, familial HDL deficiency (<a href="/entry/604091">604091</a>), is allelic to Tangier disease.</p>
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<p>Tangier disease (TGD) is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (<a href="#7" class="mim-tip-reference" title="Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., Loubser, O., Ouelette, B. F. F., and 14 others. <strong>Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.</strong> Nature Genet. 22: 336-345, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431236</a>] [<a href="https://doi.org/10.1038/11905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431236">Brooks-Wilson et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431236" 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>Tangier disease was originally described and named on the basis of a kindred living in Tangier Island in the Chesapeake Bay (<a href="#13" class="mim-tip-reference" title="Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, D. S., Goodman, H. C. <strong>Tangier disease.</strong> Ann. Intern. Med. 55: 1016-1031, 1961."None>Fredrickson et al., 1961</a>), most of whom were descendants of first settlers of 1686. Other affected families have been discovered in Missouri and Kentucky. The 2 hallmarks of the disease, enlarged lipid-laden tonsils and low serum HDL, were based on the initial description of the original kindred. <a href="#11" class="mim-tip-reference" title="Engel, W. K., Dorman, J. D., Levy, R. I., Fredrickson, D. S. <strong>Neuropathy in Tangier disease. Alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage.</strong> Arch. Neurol. 17: 1-9, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165386</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470250005001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165386">Engel et al. (1967)</a> observed that patients with Tangier disease had recurrent peripheral neuropathy, intestinal lipid storage, and decreased serum alpha-lipoproteins. Obligate heterozygotes also had decreased serum alpha-lipoproteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4165386" 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="Kocen, R. S., Lloyd, J. K., Lascelles, P. T., Fosbrooke, A. S., Williams, D. <strong>Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities.</strong> Lancet 289: 1341-1345, 1967. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165172</a>] [<a href="https://doi.org/10.1016/s0140-6736(67)91759-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165172">Kocen et al. (1967)</a> described a 37-year-old British air force corporal with Tangier disease who showed widespread loss of pain and temperature sensation and progressive muscle wasting and weakness. They commented that, whereas the characteristic pharyngeal appearance had been the presenting feature in children, adolescents tended to present with relapsing peripheral neuropathy, and adults with hypersplenism or precocious coronary artery disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4165172" 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>Hypocholesterolemia was a tip-off to the diagnosis in a 38-year-old patient with Tangier disease described by <a href="#6" class="mim-tip-reference" title="Brook, J. G., Lees, R. S., Yules, J. H., Cusack, B. <strong>Tangier disease (alpha-lipoprotein deficiency).</strong> JAMA 238: 332-334, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195100</a>]" pmid="195100">Brook et al. (1977)</a>. <a href="#2" class="mim-tip-reference" title="Assmann, G., Simantke, O., Schaefer, H.-E., Smootz, E. <strong>Characterization of high density lipoproteins in patients heterozygous for Tangier disease.</strong> J. Clin. Invest. 60: 1025-1035, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/198431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">198431</a>] [<a href="https://doi.org/10.1172/JCI108853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="198431">Assmann et al. (1977)</a> reported cases in Germany. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=198431+195100" 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="#23" class="mim-tip-reference" title="Pietrini, V., Rizzuto, N., Vergani, C., Zen, F., Ferro Milone, F. <strong>Neuropathy in Tangier disease: a clinicopathologic study and a review of the literature.</strong> Acta Neurol. Scand. 72: 495-505, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4082916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4082916</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1985.tb00907.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4082916">Pietrini et al. (1985)</a> reported a case they alleged to be the thirty-third in the 'world literature' and the second in Italy. A complete tabulation of the 33 cases was given. Age at diagnosis varied from 2 years to 67 years. The patient of <a href="#23" class="mim-tip-reference" title="Pietrini, V., Rizzuto, N., Vergani, C., Zen, F., Ferro Milone, F. <strong>Neuropathy in Tangier disease: a clinicopathologic study and a review of the literature.</strong> Acta Neurol. Scand. 72: 495-505, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4082916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4082916</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1985.tb00907.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4082916">Pietrini et al. (1985)</a> had widespread neuropathy with facial diplegia, bilateral wasting of the hand muscles, and dissociated loss of pain and temperature sensation sparing the distal parts of the limbs, known as a 'syringomyelia-like' syndrome. First neurologic symptoms appeared at age 37; he burned the base of the neck by application of an excessively hot heating pad and noted induced sensation to heat and pain in some areas of the shoulder and later in the hand and arm. Levels of apoA-I (<a href="/entry/107680">107680</a>) and HDL cholesterol were very low and triglycerides were high. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4082916" 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="#25" class="mim-tip-reference" title="Pressly, T. A., Scott, W. J., Ide, C. H., Winkler, A., Reams, G. P. <strong>Ocular complications of Tangier disease.</strong> Am. J. Med. 83: 991-994, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3314502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3314502</a>] [<a href="https://doi.org/10.1016/0002-9343(87)90667-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3314502">Pressly et al. (1987)</a> described a 66-year-old man with Tangier disease and discussed the ocular complications, including corneal clouding, decreased corneal sensation, cicatricial ectropion, and slowly progressive visual impairment. The authors noted that ectropion and incomplete eyelid closure may precede corneal clouding. The combination of exposure keratopathy and corneal infiltration was responsible for the visual impairment in their patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3314502" 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="Dyck, P. J., Ellefson, R. D., Yao, J. K., Herbert, P. N. <strong>Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration.</strong> J. Neuropath. Exp. Neurol. 37: 119-137, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/75948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">75948</a>] [<a href="https://doi.org/10.1097/00005072-197803000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="75948">Dyck et al. (1978)</a> studied a 67-year-old woman with typical biochemical features of Tangier disease and a syringomyelia-like syndrome that has been observed in other patients with adult onset. Over a period of 17 years, she had developed progressive facial diplegia, bilateral wasting of hand muscles, and loss of sensation over cranial, cervical, and brachial dermatomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=75948" 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="#32" class="mim-tip-reference" title="Schaefer, E. J., Zech, L. A., Schwartz, D. E., Brewer, H. B. <strong>Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).</strong> Ann. Intern. Med. 93: 261-266, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7406376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7406376</a>] [<a href="https://doi.org/10.7326/0003-4819-93-2-261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7406376">Schaefer et al. (1980)</a> presented data consistent with increased risk for premature vascular disease in Tangier disease. However, the strikingly accelerated atherosclerosis of familial hypercholesterolemia (<a href="/entry/143890">143890</a>) was not seen, possibly because of the normal or reduced LDL cholesterol levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7406376" 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="#8" class="mim-tip-reference" title="Cheung, M. C., Mendez, A. J., Wolf, A. C., Knopp, R. H. <strong>Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.</strong> J. Clin. Invest. 91: 522-529, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432861</a>] [<a href="https://doi.org/10.1172/JCI116231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432861">Cheung et al. (1993)</a> described a 48-year-old Caucasian female of central European origin with very low apoprotein A-I and A-II (<a href="/entry/107670">107670</a>) and low HDL cholesterol. She had most of the clinical features typical of Tangier disease, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but no splenomegaly. She had a myocardial infarction at the age of 46. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432861" 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="#33" class="mim-tip-reference" title="Schippling, S., Orth, M., Beisiegel, U., Rosenkranz, T., Vogel, P., Munchau, A., Hagel, C., Seedorf, U. <strong>Severe Tangier disease with a novel ABCA1 gene mutation.</strong> Neurology 71: 1454-1455, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18955690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18955690</a>] [<a href="https://doi.org/10.1212/01.wnl.0000327870.29639.20" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18955690">Schippling et al. (2008)</a> reported a 49-year-old Afghan Caucasian patient with Tangier syndrome who presented with a 15-year history of a progressive syringomyelia-like syndrome with episodes of appendicular stabbing pain. He had tonsillectomy at age 14. Physical examination revealed marked distal atrophic weakness with absent tendon reflexes, loss of pain and temperature sensation, trophic changes of nails and skin, distal loss of facial hair, and mild splenomegaly. He had proximal internal carotid artery stenosis (60% left, 50% right) on color coded duplex sonography, left ventricular hypertrophy with reduced left ventricular function on echocardiography, and severe coronary artery disease with proximal LAD stenosis on coronary angiography. Laboratory studies showed undetectable serum HDL and decreased total cholesterol and apoA-I. Electrophysiologic studies demonstrated a predominantly axonal sensorimotor polyneuropathy with signs of chronic and active denervation and mild to moderate demyelination. Sural nerve biopsy showed de- and remyelination, endoneurial fibrosis, and deposition of fat droplets in axons and Schwann cells. Relatively low levels of HDL were also found in the patient's mother and the 2 daughters, consistent with heterozygosity. Genetic analysis identified a homozygous truncating mutation in the ABCA1 gene, consistent with complete loss of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18955690" 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="#35" class="mim-tip-reference" title="Schmitz, G., Assmann, G., Robenek, H., Brennhausen, B. <strong>Tangier disease: a disorder of intracellular membrane traffic.</strong> Proc. Nat. Acad. Sci. 82: 6305-6309, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994070</a>] [<a href="https://doi.org/10.1073/pnas.82.18.6305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2994070">Schmitz et al. (1985)</a> showed that in macrophages, subsequent to receptor-mediated binding, HDL is internalized and then resecreted. Studying human monocytes from normal subjects and from patients with Tangier disease, <a href="#35" class="mim-tip-reference" title="Schmitz, G., Assmann, G., Robenek, H., Brennhausen, B. <strong>Tangier disease: a disorder of intracellular membrane traffic.</strong> Proc. Nat. Acad. Sci. 82: 6305-6309, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994070</a>] [<a href="https://doi.org/10.1073/pnas.82.18.6305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2994070">Schmitz et al. (1985)</a> found that HDL was internalized but only a minor amount, most of which was degraded, was resecreted from Tangier monocytes. They postulated that Tangier disease is a disorder of intracellular membrane traffic in which HDL is diverted into the lysosomal compartment and degraded instead of being secreted through its regular transcellular route. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994070" 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 contrast to 2 other monogenic HDL deficiencies in which defects in the plasma proteins APOA1 and LCAT (<a href="/entry/606967">606967</a>) interfere primarily with the formation of HDL, Tangier disease shows a defect in cell signaling and the mobilization of cellular lipids (<a href="#29" class="mim-tip-reference" title="Rust, S., Walter, M., Funke, H., von Eckardstein, A., Cullen, P., Kroes, H. Y., Hordijk, R., Geisel, J., Kastelein, J., Molhuizen, H. O. F., Schreiner, M., Mischke, A., Hahmann, H. W., Assmann, G. <strong>Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.</strong> Nature Genet. 20: 96-98, 1998. Note: Erratum: Nature Genet. 20: 312 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731541</a>] [<a href="https://doi.org/10.1038/1770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731541">Rust et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731541" 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>Studies of cultured cells from the original Tangier kindred and others were pivotal in confirming the importance of the apolipoprotein-mediated pathway in cholesterol and phospholipid cellular efflux in the reverse cholesterol transport pathway (<a href="#27" class="mim-tip-reference" title="Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., Brewer, H. B., Jr. <strong>Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.</strong> Proc. Nat. Acad. Sci. 96: 12685-12690, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10535983[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/10.1073/pnas.96.22.12685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10535983">Remaley et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10535983" 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="#29" class="mim-tip-reference" title="Rust, S., Walter, M., Funke, H., von Eckardstein, A., Cullen, P., Kroes, H. Y., Hordijk, R., Geisel, J., Kastelein, J., Molhuizen, H. O. F., Schreiner, M., Mischke, A., Hahmann, H. W., Assmann, G. <strong>Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.</strong> Nature Genet. 20: 96-98, 1998. Note: Erratum: Nature Genet. 20: 312 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731541</a>] [<a href="https://doi.org/10.1038/1770" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731541">Rust et al. (1998)</a> mapped the Tangier disease phenotype to chromosome 9q31 using a genomewide graphical linkage exclusion strategy in 1 large pedigree complemented by classic lod score calculations at that region in a total of 3 pedigrees. The results yielded a combined lod score of 10.05 at D9S1784. The studies of a mentally retarded boy with a heterozygous de novo deletion of 9q22-q32 showed an HDL cholesterol level below the 2.5 percentile. The HDL cholesterol in the parents of the boy was normal. The findings in this boy were taken to support assignment of the Tangier disease locus, and suggested that the disorder results from a loss-of-function defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731541" 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 TGD in the family reported by <a href="#13" class="mim-tip-reference" title="Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, D. S., Goodman, H. C. <strong>Tangier disease.</strong> Ann. Intern. Med. 55: 1016-1031, 1961."None>Fredrickson et al. (1961)</a> and <a href="#27" class="mim-tip-reference" title="Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., Brewer, H. B., Jr. <strong>Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.</strong> Proc. Nat. Acad. Sci. 96: 12685-12690, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10535983[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/10.1073/pnas.96.22.12685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10535983">Remaley et al. (1999)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10535983" 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 2 probands with Tangier disease, <a href="#7" class="mim-tip-reference" title="Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., Loubser, O., Ouelette, B. F. F., and 14 others. <strong>Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.</strong> Nature Genet. 22: 336-345, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431236</a>] [<a href="https://doi.org/10.1038/11905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431236">Brooks-Wilson et al. (1999)</a> identified compound heterozygous or homozygous mutations in the ABCA1 gene (<a href="/entry/600046#0001">600046.0001</a>-<a href="/entry/600046#0003">600046.0003</a>). One of the patients had presented with acute myocardial infarction at 38 years of age; the second patient was born of consanguineous parents and had been reported by <a href="#16" class="mim-tip-reference" title="Frohlich, J., Fong, B., Julien, P, Despres, J. P., Angel, A., Hayden, M., McLeod, R., Chow, C., Davison, R. H., Pritchard, H. <strong>Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease.</strong> Clin. Invest. Med. 10: 377-382, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3677505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3677505</a>]" pmid="3677505">Frohlich et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10431236+3677505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bodzioch, M., Orso, E., Klucken, J., Langmann, T., Bottcher, A., Diederich, W., Drobnik, W., Barlage, S., Buchler, C., Porsch-Ozcurumez, M., Kaminski, W. E., Hahmann, H. W., Oette, K., Rothe, G., Aslanidis, C., Lackner, K. J., Schmitz, G. <strong>The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.</strong> Nature Genet. 22: 347-351, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431237</a>] [<a href="https://doi.org/10.1038/11914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431237">Bodzioch et al. (1999)</a> analyzed 5 kindreds with Tangier disease and identified 7 different mutations in the ABCA1 gene, including 3 that were predicted to impair the function of the gene product (see, e.g., <a href="/entry/600046#0005">600046.0005</a>-<a href="/entry/600046#0008">600046.0008</a>). <a href="#28" class="mim-tip-reference" title="Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.-C., Deleuze, J.-F., Brewer, H. B., Duverger, N., Denefle, P., Assmann, G. <strong>Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.</strong> Nature Genet. 22: 352-355, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431238</a>] [<a href="https://doi.org/10.1038/11921" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431238">Rust et al. (1999)</a> likewise identified mutations in the ABCA1 gene in Tangier disease (<a href="/entry/600046#0009">600046.0009</a>-<a href="/entry/600046#0010">600046.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10431237+10431238" 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="#27" class="mim-tip-reference" title="Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., Brewer, H. B., Jr. <strong>Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.</strong> Proc. Nat. Acad. Sci. 96: 12685-12690, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10535983[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/10.1073/pnas.96.22.12685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10535983">Remaley et al. (1999)</a> demonstrated that in the original Tangier disease family (<a href="#13" class="mim-tip-reference" title="Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, D. S., Goodman, H. C. <strong>Tangier disease.</strong> Ann. Intern. Med. 55: 1016-1031, 1961."None>Fredrickson et al., 1961</a>) the disorder was caused by homozygosity for a dinucleotide deletion in exon 22 of the ABCA1 gene (<a href="/entry/600046#0011">600046.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10535983" 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>Exclusion of a Defect in the Apolipoprotein A-I Gene</em></strong></p><p>
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HDL is the designation of lipoproteins derived from density properties revealed by ultracentrifugation; alphalipoprotein is the designation based on mobility in an electrophoretic system. The apoproteins of the lipoproteins are named by their C-terminal amino acid (<a href="#31" class="mim-tip-reference" title="Schaefer, E. J., Blum, C. B., Levy, R. I., Jenkins, L. L., Alaupovic, P., Foster, D. M., Brewer, H. B., Jr. <strong>Metabolism of high-density lipoprotein apolipoproteins in Tangier disease.</strong> New Eng. J. Med. 299: 905-910, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/211412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">211412</a>] [<a href="https://doi.org/10.1056/NEJM197810262991701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="211412">Schaefer et al., 1978</a>). <a href="#21" class="mim-tip-reference" title="Lux, S. E., Levy, R. I., Gotto, A. M., Fredrickson, D. S. <strong>Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein.</strong> J. Clin. Invest. 51: 2505-2519, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4341435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4341435</a>] [<a href="https://doi.org/10.1172/JCI107066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4341435">Lux et al. (1972)</a> demonstrated a marked reduction in 1 of the 2 major apoproteins of high density lipoprotein, 'Apo-Gln-I' (Apo-I). Because no immunochemical difference could be demonstrated between this apoprotein of Tangier disease and that of normals, they concluded that Tangier disease could be caused by a mutation in a gene that regulates the synthesis of Apo-Gln-I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4341435+211412" 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>Schaefer et al. (<a href="#31" class="mim-tip-reference" title="Schaefer, E. J., Blum, C. B., Levy, R. I., Jenkins, L. L., Alaupovic, P., Foster, D. M., Brewer, H. B., Jr. <strong>Metabolism of high-density lipoprotein apolipoproteins in Tangier disease.</strong> New Eng. J. Med. 299: 905-910, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/211412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">211412</a>] [<a href="https://doi.org/10.1056/NEJM197810262991701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="211412">1978</a>, <a href="#30" class="mim-tip-reference" title="Schaefer, E. J., Anderson, D. W., Zech, L. A., Lindgren, F. T., Bronzert, T. B., Rubalcaba, E. A., Brewer, H. B., Jr. <strong>Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins.</strong> J. Lipid Res. 22: 217-228, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787156</a>]" pmid="6787156">1981</a>) presented evidence suggesting that the deficiency of apolipoproteins in Tangier disease was largely due to increased rapid catabolism. Heterozygotes showed normal catabolism. <a href="#18" class="mim-tip-reference" title="Kay, L. L., Ronan, R., Schaefer, E. J., Brewer, H. B., Jr. <strong>Tangier disease: a structural defect in apolipoprotein A-I (apoA-I-Tangier).</strong> Proc. Nat. Acad. Sci. 79: 2485-2489, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6806810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6806810</a>] [<a href="https://doi.org/10.1073/pnas.79.8.2485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6806810">Kay et al. (1982)</a> concluded that apoA-I in Tangier disease is abnormal in amino acid composition, electrophoretic mobility, apparent molecular weight on sodium dodecyl sulfate/polyacrylamide gel electrophoresis, and heterogeneity of isoforms on isoelectric focusing. <a href="#34" class="mim-tip-reference" title="Schmitz, G., Assmann, G., Rall, S. C., Jr., Mahley, R. W. <strong>Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins.</strong> Proc. Nat. Acad. Sci. 80: 6081-6085, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6412234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6412234</a>] [<a href="https://doi.org/10.1073/pnas.80.19.6081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6412234">Schmitz et al. (1983)</a> suggested that the underlying defect in Tangier disease is a faulty conversion of pro-apoA-I to mature apoA-I, either because of a defect in the converting enzyme activity or a specific structural defect in Tangier apoA-I. Thus, the failure of Tangier pro-apoA-I to associate with HDL may be at least partially responsible for the HDL deficiency in Tangier subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6806810+6412234+6787156+211412" 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="Bojanovski, D., Gregg, R. E., Zech, L. A., Meng, M. S., Bishop, C., Ronan, R., Brewer, H. B., Jr. <strong>In vivo metabolism of proapolipoprotein A-I in Tangier disease.</strong> J. Clin. Invest. 80: 1742-1747, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3119665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3119665</a>] [<a href="https://doi.org/10.1172/JCI113266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3119665">Bojanovski et al. (1987)</a> found that both proapolipoprotein A-I and the mature protein are metabolized abnormally rapidly in Tangier disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3119665" 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>By restriction enzyme analysis, <a href="#26" class="mim-tip-reference" title="Rees, A., Stocks, J., Schoulders, C., Carlson, L. A., Baralle, F. E., Galton, D. J. <strong>Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease.</strong> Acta Med. Scand. 215: 235-237, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6428166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6428166</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1984.tb05000.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6428166">Rees et al. (1984)</a> could demonstrate no major deletion or insertion in the apoA-I gene in a patient with Tangier disease. <a href="#20" class="mim-tip-reference" title="Law, S. W., Brewer, H. B., Jr. <strong>Tangier disease: the complete mRNA sequence encoding for preproapo-A-I.</strong> J. Biol. Chem. 260: 12810-12814, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2995392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2995392</a>]" pmid="2995392">Law and Brewer (1985)</a> derived the complete amino acid sequence from the nucleic acid sequence of a cloned apoA-I cDNA from liver of a patient with Tangier disease. The structure of Tangier preproapoA-I was identical to the normal preproapoA-I except for a single base substitution (G-to-T) that resulted in the isosteric substitution of aspartic acid for glutamic acid at position 120. These results were interpreted as indicating that there is no major structural defect in Tangier apoA-I and that the rapid rate of catabolism must be from a posttranslational defect in apoA-I metabolism. Specifically, a structural defect at the propeptide cleavage site, as suggested by <a href="#40" class="mim-tip-reference" title="Zannis, V. I., Lees, A. M., Lees, R. S., Breslow, J. L. <strong>Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.</strong> J. Biol. Chem. 257: 4978-4986, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7068673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7068673</a>]" pmid="7068673">Zannis et al. (1982)</a>, was excluded. <a href="#22" class="mim-tip-reference" title="Makrides, S. C., Ruiz-Opazo, N., Hayden, M., Nussbaum, A. L., Breslow, J. L., Zannis, V. I. <strong>Sequence and expression of Tangier apoA-I gene.</strong> Europ. J. Biochem. 173: 465-471, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3129297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3129297</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14022.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3129297">Makrides et al. (1988)</a> likewise concluded that the APOA1 gene is structurally normal in patients with Tangier disease. They isolated and characterized the gene from a lambda-L47.1 genomic library constructed with DNA from lymphocytes of a Tangier disease patient. The DNA-derived protein sequence of Tangier apoA-I was found to be identical to normal apoA-I. Transfection into mouse cells resulted in synthesis of a protein that was indistinguishable from the apoA-I secreted by cultured normal human cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2995392+6428166+7068673+3129297" 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="#39" class="mim-tip-reference" title="Young, S. G., Fielding, C. J. <strong>The ABCs of cholesterol efflux.</strong> Nature Genet. 22: 316-318, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431227</a>] [<a href="https://doi.org/10.1038/11878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431227">Young and Fielding (1999)</a> stated that the inhabitants of Tangier Island in the Chesapeake Bay 'still speak a unique Elizabethan dialect, and three-quarters of them bear one of four surnames from the original group of founders.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431227" 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 identifying heterozygotes for Tangier disease, <a href="#37" class="mim-tip-reference" title="Suarez, B. K., Schonfeld, G., Sparkes, R. S. <strong>Tangier disease: heterozygote detection and linkage analysis.</strong> Hum. Genet. 60: 150-156, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951800</a>] [<a href="https://doi.org/10.1007/BF00569702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6951800">Suarez et al. (1982)</a> excluded close linkage to RH, MN, GPT, and GLO. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6951800" 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="#Assmann1977" class="mim-tip-reference" title="Assmann, G., Smootz, E., Adler, K., Capurso, A., Oette, K. <strong>The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.</strong> J. Clin. Invest. 59: 565-575, 1977.">Assmann et al. (1977)</a>; <a href="#Assmann1977" class="mim-tip-reference" title="Assmann, G., Smootz, E., Adler, K., Capurso, A., Oette, K. <strong>The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.</strong> J. Clin. Invest. 59: 565-575, 1977.">Assmann et al. (1977)</a>; <a href="#Clifton-Bligh1972" class="mim-tip-reference" title="Clifton-Bligh, P., Nestel, P. J., Whyte, H. M. <strong>Tangier disease: report of a case and studies of lipid metabolism.</strong> New Eng. J. Med. 286: 567-571, 1972.">Clifton-Bligh et al.
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(1972)</a>; <a href="#Ferrans1975" class="mim-tip-reference" title="Ferrans, V. J., Fredrickson, D. S. <strong>The pathology of Tangier disease: a light and electron microscopic study.</strong> Am. J. Path. 78: 101-158, 1975.">Ferrans and Fredrickson (1975)</a>; <a href="#Fredrickson1972" class="mim-tip-reference" title="Fredrickson, D. S., Gotto, A. M., Levy, R. I. <strong>Lipoprotein deficiency. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.): The Metabolic Basis of Inherited Disease. (3rd ed.)</strong> New York: McGraw-Hill (pub.) 1972. Pp. 493-530.">Fredrickson et al. (1972)</a>; <a href="#Fredrickson1964" class="mim-tip-reference" title="Fredrickson, D. S. <strong>The inheritance of high density lipoprotein deficiency (Tangier disease).</strong> J. Clin. Invest. 43: 228-236, 1964.">Fredrickson (1964)</a>; <a href="#Greten1974" class="mim-tip-reference" title="Greten, H., Hannemann, T., Gusek, W., Vivell, O. <strong>Lipoproteins and lipolytic plasma enzymes in a case of Tangier disease.</strong> New Eng. J. Med. 291: 548-552, 1974.">Greten et al. (1974)</a>; <a href="#Pollock1983" class="mim-tip-reference" title="Pollock, M., Nukada, H., Frith, R. W., Simcock, J. P., Allpress, S. <strong>Peripheral neuropathy in Tangier disease.</strong> Brain 106: 911-928, 1983.">Pollock et al. (1983)</a>; <a href="#Schmitz1985" class="mim-tip-reference" title="Schmitz, G., Robenek, H., Lohmann, U., Assmann, G. <strong>Interaction of high density lipoproteins with cholesteryl ester-laden macrophages: biochemical and morphological characterization of cell surface receptor binding, endocytosis and resecretion of high density lipoproteins by macrophages.</strong> EMBO J. 4: 613-622, 1985.">Schmitz et al. (1985)</a>; <a href="#Utermann1975" class="mim-tip-reference" title="Utermann, G., Menzel, H. J., Schoenborn, W. <strong>Plasma lipoprotein abnormalities in a case of primary high-density-lipoprotein (HDL) deficiency.</strong> Clin. Genet. 8: 258-268, 1975.">Utermann et al. (1975)</a>
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Assmann, G., Herbert, P. N., Fredrickson, D. S., Forte, T.
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<strong>Isolation and characterization of an abnormal high density lipoprotein in Tangier disease.</strong>
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J. Clin. Invest. 60: 242-252, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/194920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">194920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=194920" 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/JCI108761" target="_blank">Full Text</a>]
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Assmann, G., Simantke, O., Schaefer, H.-E., Smootz, E.
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<strong>Characterization of high density lipoproteins in patients heterozygous for Tangier disease.</strong>
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J. Clin. Invest. 60: 1025-1035, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/198431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">198431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=198431" 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/JCI108853" target="_blank">Full Text</a>]
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Assmann, G., Smootz, E., Adler, K., Capurso, A., Oette, K.
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<strong>The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.</strong>
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J. Clin. Invest. 59: 565-575, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/190272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">190272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=190272" 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/JCI108672" target="_blank">Full Text</a>]
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Bodzioch, M., Orso, E., Klucken, J., Langmann, T., Bottcher, A., Diederich, W., Drobnik, W., Barlage, S., Buchler, C., Porsch-Ozcurumez, M., Kaminski, W. E., Hahmann, H. W., Oette, K., Rothe, G., Aslanidis, C., Lackner, K. J., Schmitz, G.
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<strong>The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.</strong>
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Nature Genet. 22: 347-351, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431237" 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/10.1038/11914" target="_blank">Full Text</a>]
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Bojanovski, D., Gregg, R. E., Zech, L. A., Meng, M. S., Bishop, C., Ronan, R., Brewer, H. B., Jr.
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<strong>In vivo metabolism of proapolipoprotein A-I in Tangier disease.</strong>
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J. Clin. Invest. 80: 1742-1747, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3119665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3119665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3119665" 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/JCI113266" target="_blank">Full Text</a>]
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Brook, J. G., Lees, R. S., Yules, J. H., Cusack, B.
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<strong>Tangier disease (alpha-lipoprotein deficiency).</strong>
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JAMA 238: 332-334, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=195100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., Loubser, O., Ouelette, B. F. F., and 14 others.
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<strong>Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.</strong>
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Nature Genet. 22: 336-345, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431236" 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/10.1038/11905" target="_blank">Full Text</a>]
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Cheung, M. C., Mendez, A. J., Wolf, A. C., Knopp, R. H.
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<strong>Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.</strong>
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J. Clin. Invest. 91: 522-529, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432861" 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/JCI116231" target="_blank">Full Text</a>]
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<strong>Tangier disease: report of a case and studies of lipid metabolism.</strong>
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[<a href="https://doi.org/10.1056/NEJM197203162861103" target="_blank">Full Text</a>]
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<strong>Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration.</strong>
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[<a href="https://doi.org/10.1097/00005072-197803000-00002" target="_blank">Full Text</a>]
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<strong>Neuropathy in Tangier disease. Alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage.</strong>
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[<a href="https://doi.org/10.1001/archneur.1967.00470250005001" target="_blank">Full Text</a>]
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<div class="">
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<strong>Tangier disease.</strong>
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<a id="Fredrickson1972" class="mim-anchor"></a>
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<a id="Fredrickson1964" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1172/JCI104907" target="_blank">Full Text</a>]
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<strong>Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease.</strong>
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[<a href="https://doi.org/10.1056/NEJM197409122911103" target="_blank">Full Text</a>]
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<strong>Tangier disease: a structural defect in apolipoprotein A-I (apoA-I-Tangier).</strong>
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[<a href="https://doi.org/10.1073/pnas.79.8.2485" target="_blank">Full Text</a>]
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<strong>Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities.</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(67)91759-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI107066" target="_blank">Full Text</a>]
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<a id="Makrides1988" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1432-1033.1988.tb14022.x" target="_blank">Full Text</a>]
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<a id="Pietrini1985" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1600-0404.1985.tb00907.x" target="_blank">Full Text</a>]
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<a id="Pollock1983" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1093/brain/106.4.911" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(87)90667-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.0954-6820.1984.tb05000.x" target="_blank">Full Text</a>]
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Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., Brewer, H. B., Jr.
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<strong>Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred.</strong>
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Proc. Nat. Acad. Sci. 96: 12685-12690, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10535983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10535983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10535983[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=10535983" 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/10.1073/pnas.96.22.12685" target="_blank">Full Text</a>]
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Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J.-C., Deleuze, J.-F., Brewer, H. B., Duverger, N., Denefle, P., Assmann, G.
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<strong>Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.</strong>
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Nature Genet. 22: 352-355, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431238" 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/10.1038/11921" target="_blank">Full Text</a>]
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Rust, S., Walter, M., Funke, H., von Eckardstein, A., Cullen, P., Kroes, H. Y., Hordijk, R., Geisel, J., Kastelein, J., Molhuizen, H. O. F., Schreiner, M., Mischke, A., Hahmann, H. W., Assmann, G.
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<strong>Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.</strong>
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Nature Genet. 20: 96-98, 1998. Note: Erratum: Nature Genet. 20: 312 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731541" 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/10.1038/1770" target="_blank">Full Text</a>]
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<a id="Schaefer1981" class="mim-anchor"></a>
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<div class="">
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Schaefer, E. J., Anderson, D. W., Zech, L. A., Lindgren, F. T., Bronzert, T. B., Rubalcaba, E. A., Brewer, H. B., Jr.
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<strong>Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins.</strong>
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J. Lipid Res. 22: 217-228, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6787156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6787156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6787156" 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="Schaefer1978" class="mim-anchor"></a>
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Schaefer, E. J., Blum, C. B., Levy, R. I., Jenkins, L. L., Alaupovic, P., Foster, D. M., Brewer, H. B., Jr.
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<strong>Metabolism of high-density lipoprotein apolipoproteins in Tangier disease.</strong>
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New Eng. J. Med. 299: 905-910, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/211412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">211412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=211412" 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/NEJM197810262991701" target="_blank">Full Text</a>]
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Schaefer, E. J., Zech, L. A., Schwartz, D. E., Brewer, H. B.
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<strong>Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).</strong>
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Ann. Intern. Med. 93: 261-266, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7406376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7406376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7406376" 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/10.7326/0003-4819-93-2-261" target="_blank">Full Text</a>]
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Schippling, S., Orth, M., Beisiegel, U., Rosenkranz, T., Vogel, P., Munchau, A., Hagel, C., Seedorf, U.
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<strong>Severe Tangier disease with a novel ABCA1 gene mutation.</strong>
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Neurology 71: 1454-1455, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18955690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18955690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18955690" 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/10.1212/01.wnl.0000327870.29639.20" target="_blank">Full Text</a>]
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Schmitz, G., Assmann, G., Rall, S. C., Jr., Mahley, R. W.
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<strong>Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins.</strong>
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Proc. Nat. Acad. Sci. 80: 6081-6085, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6412234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6412234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6412234" 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/10.1073/pnas.80.19.6081" target="_blank">Full Text</a>]
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<a id="Schmitz1985" class="mim-anchor"></a>
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Schmitz, G., Assmann, G., Robenek, H., Brennhausen, B.
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<strong>Tangier disease: a disorder of intracellular membrane traffic.</strong>
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Proc. Nat. Acad. Sci. 82: 6305-6309, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994070" 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/10.1073/pnas.82.18.6305" target="_blank">Full Text</a>]
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Schmitz, G., Robenek, H., Lohmann, U., Assmann, G.
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<strong>Interaction of high density lipoproteins with cholesteryl ester-laden macrophages: biochemical and morphological characterization of cell surface receptor binding, endocytosis and resecretion of high density lipoproteins by macrophages.</strong>
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EMBO J. 4: 613-622, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2988931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2988931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2988931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1985.tb03674.x" target="_blank">Full Text</a>]
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<a id="Suarez1982" class="mim-anchor"></a>
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Suarez, B. K., Schonfeld, G., Sparkes, R. S.
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<strong>Tangier disease: heterozygote detection and linkage analysis.</strong>
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Hum. Genet. 60: 150-156, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6951800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6951800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6951800" 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/BF00569702" target="_blank">Full Text</a>]
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Utermann, G., Menzel, H. J., Schoenborn, W.
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<strong>Plasma lipoprotein abnormalities in a case of primary high-density-lipoprotein (HDL) deficiency.</strong>
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Clin. Genet. 8: 258-268, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=171109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb01501.x" target="_blank">Full Text</a>]
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Young, S. G., Fielding, C. J.
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<strong>The ABCs of cholesterol efflux.</strong>
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Nature Genet. 22: 316-318, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431227" 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/10.1038/11878" target="_blank">Full Text</a>]
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Zannis, V. I., Lees, A. M., Lees, R. S., Breslow, J. L.
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<strong>Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.</strong>
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J. Biol. Chem. 257: 4978-4986, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7068673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7068673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7068673" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 2/24/2009
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<span class="mim-text-font">
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Victor A. McKusick - updated : 11/19/1999<br>Victor A. McKusick - updated : 8/2/1999<br>Victor A. McKusick - updated : 8/28/1998
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Victor A. McKusick : 6/3/1986
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alopez : 11/16/2022
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carol : 06/07/2019<br>carol : 06/06/2019<br>carol : 07/09/2016<br>carol : 7/15/2015<br>terry : 11/13/2012<br>carol : 3/12/2012<br>terry : 6/3/2009<br>wwang : 2/27/2009<br>ckniffin : 2/24/2009<br>terry : 2/10/2009<br>carol : 10/14/2005<br>terry : 10/7/2005<br>cwells : 11/6/2003<br>ckniffin : 6/26/2002<br>alopez : 6/20/2002<br>alopez : 6/10/2002<br>alopez : 5/11/2001<br>carol : 8/8/2000<br>carol : 8/8/2000<br>mcapotos : 12/16/1999<br>alopez : 11/19/1999<br>alopez : 8/3/1999<br>carol : 8/2/1999<br>alopez : 9/17/1998<br>alopez : 9/17/1998<br>alopez : 9/17/1998<br>alopez : 9/2/1998<br>alopez : 8/31/1998<br>alopez : 8/31/1998<br>terry : 8/28/1998<br>alopez : 6/10/1997<br>mimadm : 11/12/1995<br>davew : 8/26/1994<br>carol : 11/18/1993<br>carol : 2/25/1993<br>carol : 3/26/1992<br>supermim : 3/16/1992
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 205400
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TANGIER DISEASE; TGD
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</span>
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1<br />
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HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE<br />
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ANALPHALIPOPROTEINEMIA
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</h4>
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<p>
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<strong>SNOMEDCT:</strong> 15346004, 723579009;
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<strong>ICD10CM:</strong> E78.6;
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<strong>ORPHA:</strong> 31150;
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<strong>DO:</strong> 1388;
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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9q31.1
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</td>
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<span class="mim-font">
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Tangier disease
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</td>
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<td>
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<span class="mim-font">
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205400
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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ABCA1
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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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600046
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Tangier disease (TGD) is caused by homozygous or compound heterozygous mutation in the ABCA1 gene (600046) on chromosome 9q31.</p><p>A more common form of genetic HDL deficiency, familial HDL deficiency (604091), is allelic to Tangier disease.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Tangier disease (TGD) is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (Brooks-Wilson et al., 1999). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Tangier disease was originally described and named on the basis of a kindred living in Tangier Island in the Chesapeake Bay (Fredrickson et al., 1961), most of whom were descendants of first settlers of 1686. Other affected families have been discovered in Missouri and Kentucky. The 2 hallmarks of the disease, enlarged lipid-laden tonsils and low serum HDL, were based on the initial description of the original kindred. Engel et al. (1967) observed that patients with Tangier disease had recurrent peripheral neuropathy, intestinal lipid storage, and decreased serum alpha-lipoproteins. Obligate heterozygotes also had decreased serum alpha-lipoproteins. </p><p>Kocen et al. (1967) described a 37-year-old British air force corporal with Tangier disease who showed widespread loss of pain and temperature sensation and progressive muscle wasting and weakness. They commented that, whereas the characteristic pharyngeal appearance had been the presenting feature in children, adolescents tended to present with relapsing peripheral neuropathy, and adults with hypersplenism or precocious coronary artery disease. </p><p>Hypocholesterolemia was a tip-off to the diagnosis in a 38-year-old patient with Tangier disease described by Brook et al. (1977). Assmann et al. (1977) reported cases in Germany. </p><p>Pietrini et al. (1985) reported a case they alleged to be the thirty-third in the 'world literature' and the second in Italy. A complete tabulation of the 33 cases was given. Age at diagnosis varied from 2 years to 67 years. The patient of Pietrini et al. (1985) had widespread neuropathy with facial diplegia, bilateral wasting of the hand muscles, and dissociated loss of pain and temperature sensation sparing the distal parts of the limbs, known as a 'syringomyelia-like' syndrome. First neurologic symptoms appeared at age 37; he burned the base of the neck by application of an excessively hot heating pad and noted induced sensation to heat and pain in some areas of the shoulder and later in the hand and arm. Levels of apoA-I (107680) and HDL cholesterol were very low and triglycerides were high. </p><p>Pressly et al. (1987) described a 66-year-old man with Tangier disease and discussed the ocular complications, including corneal clouding, decreased corneal sensation, cicatricial ectropion, and slowly progressive visual impairment. The authors noted that ectropion and incomplete eyelid closure may precede corneal clouding. The combination of exposure keratopathy and corneal infiltration was responsible for the visual impairment in their patient. </p><p>Dyck et al. (1978) studied a 67-year-old woman with typical biochemical features of Tangier disease and a syringomyelia-like syndrome that has been observed in other patients with adult onset. Over a period of 17 years, she had developed progressive facial diplegia, bilateral wasting of hand muscles, and loss of sensation over cranial, cervical, and brachial dermatomes. </p><p>Schaefer et al. (1980) presented data consistent with increased risk for premature vascular disease in Tangier disease. However, the strikingly accelerated atherosclerosis of familial hypercholesterolemia (143890) was not seen, possibly because of the normal or reduced LDL cholesterol levels. </p><p>Cheung et al. (1993) described a 48-year-old Caucasian female of central European origin with very low apoprotein A-I and A-II (107670) and low HDL cholesterol. She had most of the clinical features typical of Tangier disease, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but no splenomegaly. She had a myocardial infarction at the age of 46. </p><p>Schippling et al. (2008) reported a 49-year-old Afghan Caucasian patient with Tangier syndrome who presented with a 15-year history of a progressive syringomyelia-like syndrome with episodes of appendicular stabbing pain. He had tonsillectomy at age 14. Physical examination revealed marked distal atrophic weakness with absent tendon reflexes, loss of pain and temperature sensation, trophic changes of nails and skin, distal loss of facial hair, and mild splenomegaly. He had proximal internal carotid artery stenosis (60% left, 50% right) on color coded duplex sonography, left ventricular hypertrophy with reduced left ventricular function on echocardiography, and severe coronary artery disease with proximal LAD stenosis on coronary angiography. Laboratory studies showed undetectable serum HDL and decreased total cholesterol and apoA-I. Electrophysiologic studies demonstrated a predominantly axonal sensorimotor polyneuropathy with signs of chronic and active denervation and mild to moderate demyelination. Sural nerve biopsy showed de- and remyelination, endoneurial fibrosis, and deposition of fat droplets in axons and Schwann cells. Relatively low levels of HDL were also found in the patient's mother and the 2 daughters, consistent with heterozygosity. Genetic analysis identified a homozygous truncating mutation in the ABCA1 gene, consistent with complete loss of protein function. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Schmitz et al. (1985) showed that in macrophages, subsequent to receptor-mediated binding, HDL is internalized and then resecreted. Studying human monocytes from normal subjects and from patients with Tangier disease, Schmitz et al. (1985) found that HDL was internalized but only a minor amount, most of which was degraded, was resecreted from Tangier monocytes. They postulated that Tangier disease is a disorder of intracellular membrane traffic in which HDL is diverted into the lysosomal compartment and degraded instead of being secreted through its regular transcellular route. </p><p>In contrast to 2 other monogenic HDL deficiencies in which defects in the plasma proteins APOA1 and LCAT (606967) interfere primarily with the formation of HDL, Tangier disease shows a defect in cell signaling and the mobilization of cellular lipids (Rust et al., 1998). </p><p>Studies of cultured cells from the original Tangier kindred and others were pivotal in confirming the importance of the apolipoprotein-mediated pathway in cholesterol and phospholipid cellular efflux in the reverse cholesterol transport pathway (Remaley et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rust et al. (1998) mapped the Tangier disease phenotype to chromosome 9q31 using a genomewide graphical linkage exclusion strategy in 1 large pedigree complemented by classic lod score calculations at that region in a total of 3 pedigrees. The results yielded a combined lod score of 10.05 at D9S1784. The studies of a mentally retarded boy with a heterozygous de novo deletion of 9q22-q32 showed an HDL cholesterol level below the 2.5 percentile. The HDL cholesterol in the parents of the boy was normal. The findings in this boy were taken to support assignment of the Tangier disease locus, and suggested that the disorder results from a loss-of-function defect. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of TGD in the family reported by Fredrickson et al. (1961) and Remaley et al. (1999) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 probands with Tangier disease, Brooks-Wilson et al. (1999) identified compound heterozygous or homozygous mutations in the ABCA1 gene (600046.0001-600046.0003). One of the patients had presented with acute myocardial infarction at 38 years of age; the second patient was born of consanguineous parents and had been reported by Frohlich et al. (1987). </p><p>Bodzioch et al. (1999) analyzed 5 kindreds with Tangier disease and identified 7 different mutations in the ABCA1 gene, including 3 that were predicted to impair the function of the gene product (see, e.g., 600046.0005-600046.0008). Rust et al. (1999) likewise identified mutations in the ABCA1 gene in Tangier disease (600046.0009-600046.0010). </p><p>Remaley et al. (1999) demonstrated that in the original Tangier disease family (Fredrickson et al., 1961) the disorder was caused by homozygosity for a dinucleotide deletion in exon 22 of the ABCA1 gene (600046.0011). </p><p><strong><em>Exclusion of a Defect in the Apolipoprotein A-I Gene</em></strong></p><p>
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HDL is the designation of lipoproteins derived from density properties revealed by ultracentrifugation; alphalipoprotein is the designation based on mobility in an electrophoretic system. The apoproteins of the lipoproteins are named by their C-terminal amino acid (Schaefer et al., 1978). Lux et al. (1972) demonstrated a marked reduction in 1 of the 2 major apoproteins of high density lipoprotein, 'Apo-Gln-I' (Apo-I). Because no immunochemical difference could be demonstrated between this apoprotein of Tangier disease and that of normals, they concluded that Tangier disease could be caused by a mutation in a gene that regulates the synthesis of Apo-Gln-I. </p><p>Schaefer et al. (1978, 1981) presented evidence suggesting that the deficiency of apolipoproteins in Tangier disease was largely due to increased rapid catabolism. Heterozygotes showed normal catabolism. Kay et al. (1982) concluded that apoA-I in Tangier disease is abnormal in amino acid composition, electrophoretic mobility, apparent molecular weight on sodium dodecyl sulfate/polyacrylamide gel electrophoresis, and heterogeneity of isoforms on isoelectric focusing. Schmitz et al. (1983) suggested that the underlying defect in Tangier disease is a faulty conversion of pro-apoA-I to mature apoA-I, either because of a defect in the converting enzyme activity or a specific structural defect in Tangier apoA-I. Thus, the failure of Tangier pro-apoA-I to associate with HDL may be at least partially responsible for the HDL deficiency in Tangier subjects. </p><p>Bojanovski et al. (1987) found that both proapolipoprotein A-I and the mature protein are metabolized abnormally rapidly in Tangier disease. </p><p>By restriction enzyme analysis, Rees et al. (1984) could demonstrate no major deletion or insertion in the apoA-I gene in a patient with Tangier disease. Law and Brewer (1985) derived the complete amino acid sequence from the nucleic acid sequence of a cloned apoA-I cDNA from liver of a patient with Tangier disease. The structure of Tangier preproapoA-I was identical to the normal preproapoA-I except for a single base substitution (G-to-T) that resulted in the isosteric substitution of aspartic acid for glutamic acid at position 120. These results were interpreted as indicating that there is no major structural defect in Tangier apoA-I and that the rapid rate of catabolism must be from a posttranslational defect in apoA-I metabolism. Specifically, a structural defect at the propeptide cleavage site, as suggested by Zannis et al. (1982), was excluded. Makrides et al. (1988) likewise concluded that the APOA1 gene is structurally normal in patients with Tangier disease. They isolated and characterized the gene from a lambda-L47.1 genomic library constructed with DNA from lymphocytes of a Tangier disease patient. The DNA-derived protein sequence of Tangier apoA-I was found to be identical to normal apoA-I. Transfection into mouse cells resulted in synthesis of a protein that was indistinguishable from the apoA-I secreted by cultured normal human cells. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Young and Fielding (1999) stated that the inhabitants of Tangier Island in the Chesapeake Bay 'still speak a unique Elizabethan dialect, and three-quarters of them bear one of four surnames from the original group of founders.' </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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 identifying heterozygotes for Tangier disease, Suarez et al. (1982) excluded close linkage to RH, MN, GPT, and GLO. </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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Assmann et al. (1977); Assmann et al. (1977); Clifton-Bligh et al.
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(1972); Ferrans and Fredrickson (1975); Fredrickson et al. (1972);
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Fredrickson (1964); Greten et al. (1974); Pollock et al. (1983);
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Schmitz et al. (1985); Utermann et al. (1975)
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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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Assmann, G., Herbert, P. N., Fredrickson, D. S., Forte, T.
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<strong>Isolation and characterization of an abnormal high density lipoprotein in Tangier disease.</strong>
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J. Clin. Invest. 60: 242-252, 1977.
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[PubMed: 194920]
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[Full Text: https://doi.org/10.1172/JCI108761]
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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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Assmann, G., Simantke, O., Schaefer, H.-E., Smootz, E.
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<strong>Characterization of high density lipoproteins in patients heterozygous for Tangier disease.</strong>
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J. Clin. Invest. 60: 1025-1035, 1977.
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[PubMed: 198431]
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[Full Text: https://doi.org/10.1172/JCI108853]
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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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Assmann, G., Smootz, E., Adler, K., Capurso, A., Oette, K.
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<strong>The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins.</strong>
|
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Utermann, G., Menzel, H. J., Schoenborn, W.
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<strong>Plasma lipoprotein abnormalities in a case of primary high-density-lipoprotein (HDL) deficiency.</strong>
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Clin. Genet. 8: 258-268, 1975.
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[PubMed: 171109]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb01501.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Young, S. G., Fielding, C. J.
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<strong>The ABCs of cholesterol efflux.</strong>
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Nature Genet. 22: 316-318, 1999.
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[PubMed: 10431227]
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[Full Text: https://doi.org/10.1038/11878]
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Zannis, V. I., Lees, A. M., Lees, R. S., Breslow, J. L.
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<strong>Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease.</strong>
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J. Biol. Chem. 257: 4978-4986, 1982.
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[PubMed: 7068673]
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Cassandra L. Kniffin - updated : 2/24/2009<br>Victor A. McKusick - updated : 11/19/1999<br>Victor A. McKusick - updated : 8/2/1999<br>Victor A. McKusick - updated : 8/28/1998
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Victor A. McKusick : 6/3/1986
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