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<title>
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Entry
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- #604091 - HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2927&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://medlineplus.gov/genetics/condition/familial-hdl-deficiency" 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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=425" 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><a href="https://www.alliancegenome.org/disease/DOID:0080957" 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/604091" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080957" 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 class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="number" class="mim-anchor"></a>
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<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<br />
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<strong>ORPHA:</strong> 425<br />
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<strong>DO:</strong> 0080957<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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604091
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1
|
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</span>
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</h3>
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</div>
|
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<div>
|
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<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>
|
|
<span class="mim-font">
|
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HYPOALPHALIPOPROTEINEMIA, FAMILIAL; FHA<br />
|
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HIGH DENSITY LIPOPROTEIN DEFICIENCY; HDLD<br />
|
|
FAMILIAL HDL DEFICIENCY; FHD<br />
|
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HDL CHOLESTEROL, LOW SERUM; HDLC
|
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</span>
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</h4>
|
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</div>
|
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/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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HDL deficiency, familial, 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604091"> 604091 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</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 class="btn-group ">
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<a href="/clinicalSynopsis/604091" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/604091" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604091" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> CARDIOVASCULAR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Vascular </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Coronary artery disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414024009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414024009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443502000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443502000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53741008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53741008</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/K76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/414.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">414.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956346</a>, <a href="https://bioportal.bioontology.org/search?q=C0010054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010054</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001677</a>]</span><br /> -
|
|
Premature atherosclerosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4021654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4021654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004416</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004416</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </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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|
|
- Marked decrease of high-density lipoprotein cholesterol (HDL-C) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563036</a>]</span><br /> -
|
|
Normal low-density lipoprotein cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853297</a>]</span><br /> -
|
|
Normal triglycerides <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858310</a>]</span><br /> -
|
|
Decreased apolipoprotein A-I <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0855603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0855603</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </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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|
|
- Decreased cellular cholesterol efflux<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
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|
|
- Caused by mutation in the ATP-binding cassette 1 gene (ABCA1, <a href="/entry/600046#0004">600046.0004</a>)<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that primary hypoalphalipoproteinemia-1 is caused by heterozygous mutation in the ABC1 gene (ABCA1; <a href="/entry/600046">600046</a>) on chromosome 9q31, which is also the site of mutations causing Tangier disease (<a href="/entry/205400">205400</a>).</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (<a href="#5" class="mim-tip-reference" title="Warnick, G. R., Wood, P. D. <strong>National cholesterol education program recommendations for measurement of high-density lipoprotein cholesterol: executive summary.</strong> Clin. Chem. 41: 1427-1433, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586512</a>]" pmid="7586512">Warnick and Wood, 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Primary Hypoalphalipoproteinemia</em></strong></p><p>
|
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Primary hypoalphalipoproteinemia-2 (<a href="/entry/618463">618463</a>) and intermediate primary hypoalphalipoproteinemia-2 (<a href="/entry/619836">619836</a>) are caused by mutation in the APOA1 gene (<a href="/entry/107680">107680</a>) on chromosome 11q23.</p>
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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>As in Tangier disease, an autosomal recessive disorder, the dominantly inherited disorder familial hypoalphalipoproteinemia shows a reduction in cellular cholesterol efflux (<a href="#4" class="mim-tip-reference" title="Marcil, M., Yu, L., Krimbou, L., Boucher, B., Oram, J. F., Cohn, J. S., Genest, J., Jr. <strong>Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.</strong> Arterioscler. Thromb. Vasc. Biol. 19: 159-169, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888879</a>] [<a href="https://doi.org/10.1161/01.atv.19.1.159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888879">Marcil et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888879" 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="#2" class="mim-tip-reference" title="Clee, S. M., Kastelein, J. J. P., van Dam, M., Marcil, M., Roomp, K., Zwarts, K. Y., Collins, J. A., Roelants, R., Tamasawa, N., Stulc, T., Suda, T., Ceska, R., Boucher, B., Rondeau, C., DeSouich, C., Brooks-Wilson, A., Molhuizen, H. O. F., Frohlich, J., Genest, J., Jr., Hayden, M. R. <strong>Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.</strong> J. Clin. Invest. 106: 1263-1270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11086027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11086027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11086027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI10727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11086027">Clee et al. (2000)</a> examined the phenotypes of 77 individuals heterozygous for mutations in the ABC1 gene. Heterozygotes had an approximately 40 to 45% decrease in HDL cholesterol (HDL-C) and apo-AI and a mild (approximately 10%) decrease in apo-AII compared with unaffected family members. Mean triglycerides were increased by approximately 40% in heterozygotes compared with unaffected family members. There was no significant decrease in total cholesterol or LDL cholesterol in heterozygotes. Symptomatic vascular disease was over 3 times as frequent in adult heterozygotes as in unaffected family members. The mean age of CAD onset was on average a decade earlier in heterozygotes compared to the unaffected controls. Age is an important modifier of the phenotype in heterozygotes, as a significantly larger percentage of individuals aged 30 to 70 years had HDL-C less than the fifth percentile compared to those younger than 30 years (p = 0.004). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11086027" 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>After demonstrating mutations in the ABC1 gene in patients with Tangier disease, <a href="#1" 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> studied 4 French Canadian families with familial hypoalphalipoproteinemia. Linkage analysis revealed a maximum lod score of 9.67 at a recombination fraction of 0.0 at D9S277, the region to which Tangier disease had been mapped. These 2 diseases had hitherto been considered distinct, with different clinical and biochemical characteristics. <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>In affected members of French Canadian families with hypoalphalipoproteinemia, <a href="#1" 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 heterozygous mutations in the ABC1 gene (<a href="/entry/600046#0001">600046.0001</a>-<a href="/entry/600046#0004">600046.0004</a>). One of the families had previously been studied by <a href="#3" class="mim-tip-reference" title="Marcil, M., Boucher, B., Krimbou, L., Solymoss, B. C., Davignon, J., Frohlich, J., Genest, J., Jr. <strong>Severe familial HDL deficiency in French-Canadian kindreds: clinical, biochemical, and molecular characterization.</strong> Arterioscler. Thromb. Vasc. Biol. 15: 1015-1024, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7627690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7627690</a>] [<a href="https://doi.org/10.1161/01.atv.15.8.1015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7627690">Marcil et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10431236+7627690" 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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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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Clee, S. M., Kastelein, J. J. P., van Dam, M., Marcil, M., Roomp, K., Zwarts, K. Y., Collins, J. A., Roelants, R., Tamasawa, N., Stulc, T., Suda, T., Ceska, R., Boucher, B., Rondeau, C., DeSouich, C., Brooks-Wilson, A., Molhuizen, H. O. F., Frohlich, J., Genest, J., Jr., Hayden, M. R.
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<strong>Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.</strong>
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J. Clin. Invest. 106: 1263-1270, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11086027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11086027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11086027[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=11086027" 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/JCI10727" target="_blank">Full Text</a>]
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Marcil, M., Boucher, B., Krimbou, L., Solymoss, B. C., Davignon, J., Frohlich, J., Genest, J., Jr.
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<strong>Severe familial HDL deficiency in French-Canadian kindreds: clinical, biochemical, and molecular characterization.</strong>
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Arterioscler. Thromb. Vasc. Biol. 15: 1015-1024, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7627690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7627690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7627690" 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/10.1161/01.atv.15.8.1015" target="_blank">Full Text</a>]
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Marcil, M., Yu, L., Krimbou, L., Boucher, B., Oram, J. F., Cohn, J. S., Genest, J., Jr.
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<strong>Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.</strong>
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Arterioscler. Thromb. Vasc. Biol. 19: 159-169, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9888879" 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/10.1161/01.atv.19.1.159" target="_blank">Full Text</a>]
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<strong>National cholesterol education program recommendations for measurement of high-density lipoprotein cholesterol: executive summary.</strong>
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Clin. Chem. 41: 1427-1433, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7586512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7586512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7586512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kelly A. Przylepa - updated : 12/17/2021
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Victor A. McKusick - updated : 4/10/2003<br>Victor A. McKusick - updated : 5/20/2002
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Victor A. McKusick : 8/2/1999
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carol : 04/20/2022<br>carol : 12/17/2021<br>alopez : 05/28/2021<br>carol : 08/19/2019<br>carol : 06/19/2019<br>alopez : 06/27/2012<br>carol : 3/12/2012<br>wwang : 11/5/2008<br>carol : 7/21/2006<br>carol : 4/11/2003<br>terry : 4/10/2003<br>alopez : 6/20/2002<br>terry : 5/20/2002<br>carol : 8/8/2000<br>carol : 8/8/2000<br>carol : 8/8/2000<br>alopez : 4/6/2000<br>mcapotos : 12/16/1999<br>alopez : 8/3/1999<br>carol : 8/2/1999
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HYPOALPHALIPOPROTEINEMIA, FAMILIAL; FHA<br />
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HIGH DENSITY LIPOPROTEIN DEFICIENCY; HDLD<br />
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FAMILIAL HDL DEFICIENCY; FHD<br />
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HDL CHOLESTEROL, LOW SERUM; HDLC
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<strong>SNOMEDCT:</strong> 15346004;
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<strong>ORPHA:</strong> 425;
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<strong>DO:</strong> 0080957;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<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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<span class="mim-font">
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HDL deficiency, familial, 1
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<span class="mim-font">
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604091
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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ABCA1
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<span class="mim-font">
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600046
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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 primary hypoalphalipoproteinemia-1 is caused by heterozygous mutation in the ABC1 gene (ABCA1; 600046) on chromosome 9q31, which is also the site of mutations causing Tangier disease (205400).</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). </p><p><strong><em>Genetic Heterogeneity of Primary Hypoalphalipoproteinemia</em></strong></p><p>
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Primary hypoalphalipoproteinemia-2 (618463) and intermediate primary hypoalphalipoproteinemia-2 (619836) are caused by mutation in the APOA1 gene (107680) on chromosome 11q23.</p>
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</span>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>As in Tangier disease, an autosomal recessive disorder, the dominantly inherited disorder familial hypoalphalipoproteinemia shows a reduction in cellular cholesterol efflux (Marcil et al., 1999). </p><p>Clee et al. (2000) examined the phenotypes of 77 individuals heterozygous for mutations in the ABC1 gene. Heterozygotes had an approximately 40 to 45% decrease in HDL cholesterol (HDL-C) and apo-AI and a mild (approximately 10%) decrease in apo-AII compared with unaffected family members. Mean triglycerides were increased by approximately 40% in heterozygotes compared with unaffected family members. There was no significant decrease in total cholesterol or LDL cholesterol in heterozygotes. Symptomatic vascular disease was over 3 times as frequent in adult heterozygotes as in unaffected family members. The mean age of CAD onset was on average a decade earlier in heterozygotes compared to the unaffected controls. Age is an important modifier of the phenotype in heterozygotes, as a significantly larger percentage of individuals aged 30 to 70 years had HDL-C less than the fifth percentile compared to those younger than 30 years (p = 0.004). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>After demonstrating mutations in the ABC1 gene in patients with Tangier disease, Brooks-Wilson et al. (1999) studied 4 French Canadian families with familial hypoalphalipoproteinemia. Linkage analysis revealed a maximum lod score of 9.67 at a recombination fraction of 0.0 at D9S277, the region to which Tangier disease had been mapped. These 2 diseases had hitherto been considered distinct, with different clinical and biochemical characteristics. </p>
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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 class="mim-text-font">
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<p>In affected members of French Canadian families with hypoalphalipoproteinemia, Brooks-Wilson et al. (1999) identified heterozygous mutations in the ABC1 gene (600046.0001-600046.0004). One of the families had previously been studied by Marcil et al. (1995). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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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: 10431236]
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[Full Text: https://doi.org/10.1038/11905]
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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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Clee, S. M., Kastelein, J. J. P., van Dam, M., Marcil, M., Roomp, K., Zwarts, K. Y., Collins, J. A., Roelants, R., Tamasawa, N., Stulc, T., Suda, T., Ceska, R., Boucher, B., Rondeau, C., DeSouich, C., Brooks-Wilson, A., Molhuizen, H. O. F., Frohlich, J., Genest, J., Jr., Hayden, M. R.
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|
<strong>Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.</strong>
|
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J. Clin. Invest. 106: 1263-1270, 2000.
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[PubMed: 11086027]
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[Full Text: https://doi.org/10.1172/JCI10727]
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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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Marcil, M., Boucher, B., Krimbou, L., Solymoss, B. C., Davignon, J., Frohlich, J., Genest, J., Jr.
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<strong>Severe familial HDL deficiency in French-Canadian kindreds: clinical, biochemical, and molecular characterization.</strong>
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Arterioscler. Thromb. Vasc. Biol. 15: 1015-1024, 1995.
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[PubMed: 7627690]
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[Full Text: https://doi.org/10.1161/01.atv.15.8.1015]
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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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Marcil, M., Yu, L., Krimbou, L., Boucher, B., Oram, J. F., Cohn, J. S., Genest, J., Jr.
|
|
<strong>Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 19: 159-169, 1999.
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[PubMed: 9888879]
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[Full Text: https://doi.org/10.1161/01.atv.19.1.159]
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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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Warnick, G. R., Wood, P. D.
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<strong>National cholesterol education program recommendations for measurement of high-density lipoprotein cholesterol: executive summary.</strong>
|
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Clin. Chem. 41: 1427-1433, 1995.
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[PubMed: 7586512]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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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Kelly A. Przylepa - updated : 12/17/2021<br>Victor A. McKusick - updated : 4/10/2003<br>Victor A. McKusick - updated : 5/20/2002
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/2/1999
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Edit History:
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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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alopez : 06/07/2023<br>carol : 04/20/2022<br>carol : 12/17/2021<br>alopez : 05/28/2021<br>carol : 08/19/2019<br>carol : 06/19/2019<br>alopez : 06/27/2012<br>carol : 3/12/2012<br>wwang : 11/5/2008<br>carol : 7/21/2006<br>carol : 4/11/2003<br>terry : 4/10/2003<br>alopez : 6/20/2002<br>terry : 5/20/2002<br>carol : 8/8/2000<br>carol : 8/8/2000<br>carol : 8/8/2000<br>alopez : 4/6/2000<br>mcapotos : 12/16/1999<br>alopez : 8/3/1999<br>carol : 8/2/1999
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