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Entry
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- #238600 - HYPERLIPOPROTEINEMIA, TYPE I
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- OMIM
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<p>
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<span class="h4">#238600</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/238600"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=HYPERLIPOPROTEINEMIA, TYPE I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21336&Typ=Pat" title="Familial lipoprotein lipase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial lipoprotein lipas… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23491&Typ=Pat" title="Familial chylomicronemia syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial chylomicronemia s… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1308/" 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://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-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.ncbi.nlm.nih.gov/gtr/all/tests/?term=238600[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309015" title="Familial lipoprotein lipase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial lipoprotein lipas…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444490" title="Familial chylomicronemia syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial chylomicronemia s…</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:14118" 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/238600" 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/OMIA001210/" 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 style="display: table-cell;">Cell Lines</div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:238600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 267435002, 275598004, 403827000<br />
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<strong>ICD10CM:</strong> E78.3<br />
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<strong>ICD9CM:</strong> 272.3<br />
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<strong>ORPHA:</strong> 309015, 444490<br />
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<strong>DO:</strong> 14118<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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238600
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<h3>
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HYPERLIPOPROTEINEMIA, TYPE I
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<br />
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<em>Alternative titles; symbols</em>
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<h4>
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LIPOPROTEIN LIPASE DEFICIENCY<br />
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LPL DEFICIENCY<br />
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HYPERCHYLOMICRONEMIA, FAMILIAL<br />
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HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE<br />
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HYPERLIPEMIA, ESSENTIAL FAMILIAL<br />
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LIPASE D DEFICIENCY<br />
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LIPD DEFICIENCY<br />
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HYPERLIPOPROTEINEMIA, TYPE IA<br />
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CHYLOMICRONEMIA, FAMILIAL
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</h4>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11, INCLUDED; HDLCQ11, INCLUDED
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</span>
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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>
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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/8/91?start=-3&limit=10&highlight=91">
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8p21.3
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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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[High density lipoprotein cholesterol level QTL 11]
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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/238600"> 238600 </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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LPL
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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/609708"> 609708 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/8/91?start=-3&limit=10&highlight=91">
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8p21.3
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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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Lipoprotein lipase deficiency
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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/238600"> 238600 </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>
|
|
<span class="mim-font">
|
|
LPL
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609708"> 609708 </a>
|
|
</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 ">
|
|
<a href="/clinicalSynopsis/238600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/238600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/238600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> GI </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br /> - Episodic abdominal pain <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808022&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808022</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002574</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002574</a>]</span><br /> - Hepatosplenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36760000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36760000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span><br /> - 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 /> - Nausea and vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16932000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16932000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.01</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002017</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002017</a>]</span><br /> - Bile duct stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43030007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43030007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267925</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Cardiac </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No precocious atherosclerosis<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skin </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Eruptive xanthomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238952003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238952003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001013</a>]</span><br /> - Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Eyes </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lipemia retinalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95692001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95692001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Hyperlipemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> - Hyperchylomicronemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403827000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403827000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267435002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267435002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275598004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/272.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">272.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023817</a>, <a href="https://bioportal.bioontology.org/search?q=C1535978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1535978</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012238</a>]</span><br /> - Fat-induced hyperlipemia<br /> - Hypercholesterolemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1522133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522133</a>, <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br /> - Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> - Lipoprotein lipase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403827000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403827000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267435002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267435002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275598004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/272.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">272.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023817</a>]</span><br /> - Alpha and beta lipoproteins low<br /> - Chylomicron removal defect<br /> - Decreased plasma postheparin lipolytic activity (PHLA)<br /> - Plasma lactescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096710</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031028</a>]</span><br /> - Heterozygotes may show slight hyperlipemia and reduced PHLA<br />
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<strong> Inheritance </strong>
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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 /> - multiple alleles and compounds<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because type I hyperlipoproteinemia is caused by homozygous or compound heterozygous mutation in the lipoprotein lipase gene (LPL; <a href="/entry/609708">609708</a>) on chromosome 8p21.</p>
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<p><a href="#18" class="mim-tip-reference" title="Holt, L. E., Jr., Aylward, F. X., Timbers, H. G. <strong>Idiopathic familial lipemia.</strong> Bull. Johns Hopkins Hosp. 64: 279-314, 1939."None>Holt et al. (1939)</a> first reported the familial occurrence of this syndrome. <a href="#4" class="mim-tip-reference" title="Boggs, J. D., Hsia, D. Y.-Y., Mais, R. F., Bigler, J. A. <strong>The genetic mechanism of idiopathic hyperlipemia.</strong> New Eng. J. Med. 257: 1101-1108, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13483896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13483896</a>] [<a href="https://doi.org/10.1056/NEJM195712052572301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13483896">Boggs et al. (1957)</a> described 3 affected sibs from a first-cousin mating. Massive hyperchylomicronemia occurs when the patient is on a normal diet and disappears completely in a few days on fat-free feeding. On a normal diet alpha and beta lipoproteins are low. A defect in removal of chylomicrons (fat induction) and of other triglyceride-rich lipoproteins (carbohydrate induction) is present. Decreased plasma postheparin lipolytic activity (PHLA) is demonstrated. Low tissue activity of lipoprotein lipase was suspected. The full-blown disease, manifested by attacks of abdominal pain, hepatosplenomegaly, eruptive xanthomas, and lactescence of the plasma, is a recessive. Heterozygotes may show slight hyperlipemia and reduced PHLA. Precocious atherosclerosis does not seem to be a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13483896" 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="#14" class="mim-tip-reference" title="Havel, R. J., Gordon, R. S. <strong>Idiopathic hyperlipemia: metabolic studies in an affected family.</strong> J. Clin. Invest. 39: 1777-1790, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13712364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13712364</a>] [<a href="https://doi.org/10.1172/JCI104202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13712364">Havel and Gordon (1960)</a> first recognized deficiency of lipoprotein lipase (triacylglycerol acylhydrolase; <a href="https://enzyme.expasy.org/EC/3.1.1.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.1.3</a>) as the basic defect in type I hyperlipoproteinemia. The type I hyperlipoproteinemia phenotype can also result from deficiency of the activator of lipoprotein lipase, apolipoprotein C-II (<a href="#5" class="mim-tip-reference" title="Breckenridge, W. C., Little, A. C., Steiner, G., Chow, A., Poapst, M. <strong>Hypertriglyceridemia associated with deficiency of C-II apoprotein in plasma lipoproteins.</strong> New Eng. J. Med. 298: 1265-1273, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/565877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">565877</a>] [<a href="https://doi.org/10.1056/NEJM197806082982301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="565877">Breckenridge et al., 1978</a>)--see <a href="/entry/207750">207750</a>. This condition was called fat-induced hypertriglyceridemia by <a href="#20" class="mim-tip-reference" title="Nevin, N. C., Slack, J. <strong>Hyperlipidaemic xanthomatosis II: mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.</strong> J. Med. Genet. 5: 9-28, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5653873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5653873</a>] [<a href="https://doi.org/10.1136/jmg.5.1.9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5653873">Nevin and Slack (1968)</a>. Adipose tissue in heterozygotes shows intermediate levels of lipoprotein lipase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13712364+565877+5653873" 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="Berger, G. M. B. <strong>An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.</strong> Am. J. Clin. Path. 88: 369-373, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3630977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3630977</a>] [<a href="https://doi.org/10.1093/ajcp/88.3.369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3630977">Berger (1987)</a> reported a case of variant lipoprotein lipase deficiency in which muscle lipoprotein lipase was essentially normal although the enzyme in adipose tissue was markedly reduced. <a href="#21" class="mim-tip-reference" title="Schreibman, P. H., Arons, D. L., Saudek, C. D., Arky, R. A. <strong>Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia.</strong> J. Clin. Invest. 52: 2074-2082, 1973."None>Schreibman et al. (1973)</a> studied a family with 2 clinically typical sibs whose lipoprotein lipase showed abnormal substrate specificity and kinetics. <a href="#17" class="mim-tip-reference" title="Hoeg, J. M., Osborne, J. C., Jr., Gregg, R. E., Brewer, H. B., Jr. <strong>Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man.</strong> Am. J. Med. 75: 889-892, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6638056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6638056</a>] [<a href="https://doi.org/10.1016/0002-9343(83)90423-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6638056">Hoeg et al. (1983)</a> reported an extraordinary patient in whom the diagnosis was first made at the age of 75. Absolute abstinence from alcohol and a self-imposed low-fat diet may have been responsible for the long survival. Since childhood, he had had recurrent abdominal pain, nausea and vomiting, diagnosed as 'gall bladder attacks,' until age 48 when he was first hospitalized. During the next 15 years he had 1 to 3 episodes of abdominal pain per year necessitating hospitalization. These episodes were diagnosed as acute pancreatitis and were sometimes associated with an evanescent papular rash. Jaundice that developed rapidly at age 64 was found to be due to bile duct stenosis, which was surgically relieved. He had, at age 73, ischemic heart disease and a femoral bruit. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6638056+3630977" 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="Eckel, R. H. <strong>Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases.</strong> New Eng. J. Med. 320: 1060-1068, 1989. Note: Erratum: New Eng. J. Med. 322: 477 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2648155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2648155</a>] [<a href="https://doi.org/10.1056/NEJM198904203201607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2648155">Eckel (1989)</a> provided an extensive review of lipoprotein lipase. <a href="#1" class="mim-tip-reference" title="Auwerx, J. H., Babirak, S. P., Fujimoto, W. Y., Iverius, P. H., Brunzell, J. D. <strong>Defective enzyme protein in lipoprotein lipase deficiency.</strong> Europ. J. Clin. Invest. 19: 433-437, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2511019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2511019</a>] [<a href="https://doi.org/10.1111/j.1365-2362.1989.tb00255.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2511019">Auwerx et al. (1989)</a> classified LPL deficiency at the protein level on the basis of the absence (class I) or presence of defective enzyme protein, and whether it binds (class II) or does not bind (class III) to heparin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2511019+2648155" 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>Slight to moderate hemolysis is often present in plasma from patients with primary LPL deficiency. <a href="#7" class="mim-tip-reference" title="Cantin, B., Boudriau, S., Bertrand, M., Brun, L.-D., Gagne, C., Rogers, P. A., Ven Murthy, M. R., Lupien, P.-J., Julien, P. <strong>Hemolysis in primary lipoprotein lipase deficiency.</strong> Metabolism 44: 652-658, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7752915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7752915</a>] [<a href="https://doi.org/10.1016/0026-0495(95)90124-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7752915">Cantin et al. (1995)</a> found that, while osmotic fragility was similar to that in control subjects, plasma prehemoglobin was significantly increased. Furthermore, an increase in plasma lysophosphatidylcholine concentration was found. This was thought to be due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. The findings, along with a positive correlation between plasma prehemoglobin and lysophosphatidylcholine levels, suggested that the hemolysis in LPL deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7752915" 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="Feoli-Fonseca, J. C., Levy, E., Godard, M., Lambert, M. <strong>Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.</strong> J. Pediat. 133: 417-423, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738727</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70280-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738727">Feoli-Fonseca et al. (1998)</a> reviewed the cases of 16 infants under 1 year of age who were found to have LPL deficiency; 7 presented with irritability, 2 with lower intestinal bleeding, 5 with pallor, anemia, or splenomegaly, and 2 with a family history or fortuitous discovery. All plasma samples were lactescent at presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738727" 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="Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H. <strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong> J. Clin. Endocr. Metab. 90: 6541-6544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174715</a>] [<a href="https://doi.org/10.1210/jc.2005-1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174715">Kawashiri et al. (2005)</a> reported a 22-year-old Japanese male with this mutation who had had no major pancreatic malformations, vascular complications, or severe glucose intolerance despite a 32-year clinical history of pancreatitis recurring more than 20 times. Based on the long-term observations of this patient, <a href="#19" class="mim-tip-reference" title="Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H. <strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong> J. Clin. Endocr. Metab. 90: 6541-6544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174715</a>] [<a href="https://doi.org/10.1210/jc.2005-1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174715">Kawashiri et al. (2005)</a> proposed that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16174715" 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 the patients reviewed by <a href="#10" class="mim-tip-reference" title="Feoli-Fonseca, J. C., Levy, E., Godard, M., Lambert, M. <strong>Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.</strong> J. Pediat. 133: 417-423, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738727</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70280-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738727">Feoli-Fonseca et al. (1998)</a>, chylomicronemia responded rapidly to dietary fat restriction, and it was possible to maintain satisfactory metabolic control for a prolonged period of time. Only 1 adolescent girl had an episode of pancreatitis associated with the use of oral contraceptives. No persistent adverse effects on growth were seen. The development of pancreatitis indicates that estrogen therapy should be avoided in LPL-deficient patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738727" 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="#15" class="mim-tip-reference" title="Heaney, A. P., Sharer, N., Rameh, B., Braganza, J. M., Durrington, P. N. <strong>Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.</strong> J. Clin. Endocr. Metab. 84: 1203-1205, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10199753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10199753</a>] [<a href="https://doi.org/10.1210/jcem.84.4.5617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10199753">Heaney et al. (1999)</a> reported a dramatic response to antioxidant therapy (Antox, 1 tablet 4 times daily) in 3 patients with familial lipoprotein lipase deficiency complicated by frequent severe episodes of pancreatitis. Because these patients failed to respond to other dietary and pharmacologic measures, the authors concluded that antioxidant therapy may be an important advance in the management of this type of patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10199753" 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>Triglycerides enter the plasma compartment from the liver in the form of very low density lipoprotein (VLDL) particles, and from dietary fat absorption in the intestine, in the form of chylomicrons. LPL activity is the primary mechanism by which plasma triglycerides are hydrolyzed, leading to subsequent efficient removal of triglyceride-rich lipoprotein remnants. In the absence of the LPL-dependent pathway, the removal of triglyceride-rich lipoproteins occurs through a less efficient LPL-independent pathway, resulting in massively elevated triglyceride levels. APOC3 (<a href="/entry/107720">107720</a>) is known to inhibit LPL (<a href="/entry/609708">609708</a>), although there is also evidence that APOC3 increases the level of plasma triglycerides through an LPL-independent mechanism. <a href="#13" class="mim-tip-reference" title="Gaudet, D., Brisson, D., Tremblay, K., Alexander, V. J., Singleton, W., Hughes, S. G., Geary, R. S., Baker, B. F., Graham, M. J., Crooke, R. M., Witztum, J. L. <strong>Targeting APOC3 in the familial chylomicronemia syndrome.</strong> New Eng. J. Med. 371: 2200-2206, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470695</a>] [<a href="https://doi.org/10.1056/NEJMoa1400284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470695">Gaudet et al. (2014)</a> administered an inhibitor of APOC3 mRNA, called ISIS 304801, to treat 3 patients with familial chylomicronemia syndrome due to LPL deficiency and triglyceride levels ranging from 1,406 to 2,083 mg/dl (15.9-23.5 mM/l). After 13 weeks of study drug administration, plasma APOC3 levels were reduced by 71 to 90% and triglyceride levels by 56 to 86%. During the study, all patients had a triglyceride level of less than 500 mg/dl (5.7 mM/l) with treatment. <a href="#13" class="mim-tip-reference" title="Gaudet, D., Brisson, D., Tremblay, K., Alexander, V. J., Singleton, W., Hughes, S. G., Geary, R. S., Baker, B. F., Graham, M. J., Crooke, R. M., Witztum, J. L. <strong>Targeting APOC3 in the familial chylomicronemia syndrome.</strong> New Eng. J. Med. 371: 2200-2206, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470695</a>] [<a href="https://doi.org/10.1056/NEJMoa1400284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470695">Gaudet et al. (2014)</a> concluded that these data supported the role of APOC3 as a key regulator of LPL-independent pathways of triglyceride metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470695" 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="#24" class="mim-tip-reference" title="Witztum, J. L., Gaudet, D., Freedman, S. D., Alexander, V. J., Digenio, A., Williams, K. R., Yang, Q., Hughes, S. G., Geary, R. S., Arca, M., Stroes, E. S. G., Bergeron, J., Soran, H., Civeira, F., Hemphill, L., Tsimikas, S., Blom, D. J., O'Dea, L., Bruckert, E. <strong>Volanesorsen and triglyceride levels in familial chylomicronemia syndrome.</strong> New Eng. J. Med. 381: 531-542, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31390500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31390500</a>] [<a href="https://doi.org/10.1056/NEJMoa1715944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31390500">Witztum et al. (2019)</a> conducted a phase 3 double-blind randomized 52-week trial to evaluate the safety and effectiveness of antisense-mediated inhibition of hepatic APOC3 by volanesorsen in 66 patients with familial chylomicronemia syndrome. Most of the patients were homozygous or compound heterozygous for mutations in the LPL gene. The primary endpoint was the percentage change in fasting triglyceride levels from baseline to 3 months. Patients receiving volanesorsen had an 84% decrease from baseline in mean plasma apolipoprotein C-III levels at 3 months, whereas patients receiving placebo had a 6.1% increase from baseline (p less than 0.001). Patients receiving volanesorsen had a 77% decrease in mean triglyceride levels, whereas patients receiving placebo had an 18% increase (p less than 0.001). At 3 months, 77% of patients in the volanesorsen group, compared with 10% of patients in the placebo group, had triglyceride levels of less than 750 mg/dl. Twenty of the 33 patients who received volanesorsen had injection site reactions, whereas none of the patients who received placebo had such reactions. No patients in the placebo group had platelet counts below 100,000/microliter, whereas 15 of 33 patients in the volanesorsen group had such levels, including 2 who had levels below 25,000/microliter. No patient had platelet counts below 50,000/microliter after enhanced platelet monitoring began. <a href="#24" class="mim-tip-reference" title="Witztum, J. L., Gaudet, D., Freedman, S. D., Alexander, V. J., Digenio, A., Williams, K. R., Yang, Q., Hughes, S. G., Geary, R. S., Arca, M., Stroes, E. S. G., Bergeron, J., Soran, H., Civeira, F., Hemphill, L., Tsimikas, S., Blom, D. J., O'Dea, L., Bruckert, E. <strong>Volanesorsen and triglyceride levels in familial chylomicronemia syndrome.</strong> New Eng. J. Med. 381: 531-542, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31390500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31390500</a>] [<a href="https://doi.org/10.1056/NEJMoa1715944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31390500">Witztum et al. (2019)</a> concluded that volanesorsen lowered triglyceride levels to less than 750 mg/dl in 77% of patients with familial chylomicronemia syndrome. Thrombocytopenia and injection site reactions were common adverse events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31390500" 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>For a full discussion of the molecular genetics of lipoprotein lipase deficiency (type I hyperlipoproteinemia), see the entry for the LPL gene (<a href="/entry/609708">609708</a>).</p>
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<a href="#Berger1962" class="mim-tip-reference" title="Berger, H., Richter, A., Gilardi, A., Wagner, H. <strong>Essential familial hyperlipaemia in a 2-year-old child.</strong> Ann. Paediat. 199: 445-466, 1962.">Berger et al. (1962)</a>; <a href="#Brunzell1980" class="mim-tip-reference" title="Brunzell, J. D., Chait, A., Nikkila, E. A., Ehnholm, C., Huttunen, J. K., Steiner, G. <strong>Heterogeneity of primary lipoprotein lipase deficiency.</strong> Metabolism 29: 624-629, 1980.">Brunzell et al. (1980)</a>; <a href="#Emi1990" class="mim-tip-reference" title="Emi, M., Wilson, D. E., Iverius, P.-H., Wu, L., Hata, A., Hegele, R., Williams, R. R., Lalouel, J.-M. <strong>Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency.</strong> J. Biol. Chem. 265: 5910-5916, 1990.">Emi et al. (1990)</a>; <a href="#Franklin1937" class="mim-tip-reference" title="Franklin, S. M. <strong>Splenomegaly with lipaemia.</strong> Proc. Roy. Soc. Med. 30: 711, 1937.">Franklin (1937)</a>; <a href="#Fredrickson1972" class="mim-tip-reference" title="Fredrickson, D. S., Levy, R. I. <strong>Familial hyperlipoproteinemia.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. 545-614.">Fredrickson and Levy (1972)</a>; <a href="#Henderson1991" class="mim-tip-reference" title="Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R. <strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong> J. Clin. Invest. 87: 2005-2011, 1991.">Henderson et al.
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(1991)</a>; <a href="#Sternowsky1977" class="mim-tip-reference" title="Sternowsky, H. J., Gaertner, U., Stahnkel, N., Kaukel, E. <strong>Juvenile familial hypertriglyceridemia and growth retardation: clinical and biochemical observations in three siblings.</strong> Europ. J. Pediat. 125: 59-70, 1977.">Sternowsky et al. (1977)</a>; <a href="#Wessler1969" class="mim-tip-reference" title="Wessler, S., Avioli, L. A. <strong>Familial hyperlipoproteinemia.</strong> JAMA 207: 929-937, 1969.">Wessler and Avioli (1969)</a>
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Europ. J. Clin. Invest. 19: 433-437, 1989.
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<strong>Hyperlipidaemic xanthomatosis II: mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.</strong>
|
|
J. Med. Genet. 5: 9-28, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5653873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5653873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5653873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.5.1.9" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Schreibman1973" class="mim-anchor"></a>
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|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schreibman, P. H., Arons, D. L., Saudek, C. D., Arky, R. A.
|
|
<strong>Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia.</strong>
|
|
J. Clin. Invest. 52: 2074-2082, 1973.
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Sternowsky1977" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Sternowsky, H. J., Gaertner, U., Stahnkel, N., Kaukel, E.
|
|
<strong>Juvenile familial hypertriglyceridemia and growth retardation: clinical and biochemical observations in three siblings.</strong>
|
|
Europ. J. Pediat. 125: 59-70, 1977.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/192555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">192555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=192555" 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/BF00470606" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wessler1969" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Wessler, S., Avioli, L. A.
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|
<strong>Familial hyperlipoproteinemia.</strong>
|
|
JAMA 207: 929-937, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5818258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5818258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5818258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Witztum2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Witztum, J. L., Gaudet, D., Freedman, S. D., Alexander, V. J., Digenio, A., Williams, K. R., Yang, Q., Hughes, S. G., Geary, R. S., Arca, M., Stroes, E. S. G., Bergeron, J., Soran, H., Civeira, F., Hemphill, L., Tsimikas, S., Blom, D. J., O'Dea, L., Bruckert, E.
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<strong>Volanesorsen and triglyceride levels in familial chylomicronemia syndrome.</strong>
|
|
New Eng. J. Med. 381: 531-542, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31390500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31390500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31390500" 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/NEJMoa1715944" target="_blank">Full Text</a>]
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</p>
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</div>
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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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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Ada Hamosh - updated : 05/19/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Ada Hamosh - updated : 1/12/2015<br>John A. Phillips, III - updated : 3/19/2007<br>John A. Phillips, III - updated : 4/13/2005<br>Marla J. F. O'Neill - updated : 2/4/2005<br>Victor A. McKusick - updated : 6/11/2004<br>John A. Phillips, III - updated : 9/30/2003<br>Victor A. McKusick - updated : 3/1/2002<br>Victor A. McKusick - updated : 12/27/2001<br>John A. Phillips, III - updated : 7/11/2001<br>Victor A. McKusick - updated : 4/5/2001<br>Victor A. McKusick - updated : 4/21/2000<br>Wilson H. Y. Lo - updated : 10/26/1999<br>John A. Phillips, III - updated : 10/7/1999<br>Victor A. McKusick - updated : 9/15/1999<br>Ada Hamosh - updated : 5/18/1999<br>Victor A. McKusick - updated : 2/4/1999<br>Victor A. McKusick - updated : 9/14/1998<br>Victor A. McKusick - updated : 9/1/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 12/31/1997<br>Jennifer P. Macke - updated : 5/30/1997<br>Victor A. McKusick - updated : 5/27/1997<br>Cynthia K. Ewing - updated : 10/8/1996<br>Moyra Smith - updated : 10/7/1996<br>Stylianos E. Antonarakis - updated : 7/3/1996
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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 : 6/3/1986
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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alopez : 05/19/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 05/30/2019<br>carol : 07/09/2016<br>alopez : 1/12/2015<br>terry : 3/15/2013<br>carol : 9/16/2010<br>terry : 6/3/2009<br>terry : 2/2/2009<br>carol : 3/19/2007<br>alopez : 11/15/2005<br>alopez : 11/15/2005<br>wwang : 5/11/2005<br>wwang : 4/13/2005<br>terry : 2/4/2005<br>tkritzer : 6/29/2004<br>terry : 6/11/2004<br>alopez : 3/17/2004<br>alopez : 9/30/2003<br>alopez : 9/30/2003<br>alopez : 10/21/2002<br>carol : 3/1/2002<br>terry : 3/1/2002<br>carol : 1/9/2002<br>mcapotos : 1/3/2002<br>terry : 12/27/2001<br>alopez : 7/11/2001<br>cwells : 4/12/2001<br>terry : 4/5/2001<br>mcapotos : 5/19/2000<br>mcapotos : 5/18/2000<br>terry : 4/21/2000<br>carol : 10/26/1999<br>mgross : 10/7/1999<br>carol : 9/30/1999<br>jlewis : 9/28/1999<br>terry : 9/15/1999<br>alopez : 5/24/1999<br>alopez : 5/24/1999<br>terry : 5/18/1999<br>carol : 2/7/1999<br>terry : 2/4/1999<br>dkim : 12/10/1998<br>carol : 9/16/1998<br>dkim : 9/14/1998<br>terry : 9/14/1998<br>carol : 9/2/1998<br>terry : 9/1/1998<br>alopez : 6/29/1998<br>terry : 6/25/1998<br>alopez : 2/9/1998<br>alopez : 1/28/1998<br>alopez : 1/28/1998<br>dholmes : 1/6/1998<br>terry : 11/10/1997<br>alopez : 8/1/1997<br>alopez : 7/24/1997<br>alopez : 7/24/1997<br>alopez : 7/8/1997<br>mark : 7/1/1997<br>mark : 6/16/1997<br>alopez : 6/11/1997<br>mark : 5/30/1997<br>mark : 5/30/1997<br>jenny : 5/30/1997<br>terry : 5/27/1997<br>jamie : 11/1/1996<br>terry : 10/28/1996<br>terry : 10/22/1996<br>mark : 10/7/1996<br>carol : 7/3/1996<br>terry : 7/1/1996<br>mark : 6/11/1996<br>terry : 5/13/1996<br>terry : 5/6/1996<br>mark : 5/2/1996<br>terry : 4/24/1996<br>mark : 1/27/1996<br>terry : 1/18/1996<br>mark : 9/22/1995<br>davew : 8/26/1994<br>carol : 5/16/1994<br>warfield : 3/16/1994<br>mimadm : 2/19/1994<br>carol : 11/30/1993
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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 class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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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<strong>#</strong> 238600
|
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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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HYPERLIPOPROTEINEMIA, TYPE I
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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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<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>
|
|
<span class="mim-font">
|
|
LIPOPROTEIN LIPASE DEFICIENCY<br />
|
|
LPL DEFICIENCY<br />
|
|
HYPERCHYLOMICRONEMIA, FAMILIAL<br />
|
|
HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE<br />
|
|
HYPERLIPEMIA, ESSENTIAL FAMILIAL<br />
|
|
LIPASE D DEFICIENCY<br />
|
|
LIPD DEFICIENCY<br />
|
|
HYPERLIPOPROTEINEMIA, TYPE IA<br />
|
|
CHYLOMICRONEMIA, FAMILIAL
|
|
</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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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
|
<span class="h3 mim-font">
|
|
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11, INCLUDED; HDLCQ11, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 267435002, 275598004, 403827000;
|
|
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|
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<strong>ICD10CM:</strong> E78.3;
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|
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|
|
|
<strong>ICD9CM:</strong> 272.3;
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<strong>ORPHA:</strong> 309015, 444490;
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<strong>DO:</strong> 14118;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
8p21.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
[High density lipoprotein cholesterol level QTL 11]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
238600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
LPL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609708
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
8p21.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lipoprotein lipase deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
238600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
LPL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609708
|
|
</span>
|
|
</td>
|
|
</tr>
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|
|
</tbody>
|
|
</table>
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
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|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because type I hyperlipoproteinemia is caused by homozygous or compound heterozygous mutation in the lipoprotein lipase gene (LPL; 609708) on chromosome 8p21.</p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Holt et al. (1939) first reported the familial occurrence of this syndrome. Boggs et al. (1957) described 3 affected sibs from a first-cousin mating. Massive hyperchylomicronemia occurs when the patient is on a normal diet and disappears completely in a few days on fat-free feeding. On a normal diet alpha and beta lipoproteins are low. A defect in removal of chylomicrons (fat induction) and of other triglyceride-rich lipoproteins (carbohydrate induction) is present. Decreased plasma postheparin lipolytic activity (PHLA) is demonstrated. Low tissue activity of lipoprotein lipase was suspected. The full-blown disease, manifested by attacks of abdominal pain, hepatosplenomegaly, eruptive xanthomas, and lactescence of the plasma, is a recessive. Heterozygotes may show slight hyperlipemia and reduced PHLA. Precocious atherosclerosis does not seem to be a feature. </p><p>Havel and Gordon (1960) first recognized deficiency of lipoprotein lipase (triacylglycerol acylhydrolase; EC 3.1.1.3) as the basic defect in type I hyperlipoproteinemia. The type I hyperlipoproteinemia phenotype can also result from deficiency of the activator of lipoprotein lipase, apolipoprotein C-II (Breckenridge et al., 1978)--see 207750. This condition was called fat-induced hypertriglyceridemia by Nevin and Slack (1968). Adipose tissue in heterozygotes shows intermediate levels of lipoprotein lipase. </p><p>Berger (1987) reported a case of variant lipoprotein lipase deficiency in which muscle lipoprotein lipase was essentially normal although the enzyme in adipose tissue was markedly reduced. Schreibman et al. (1973) studied a family with 2 clinically typical sibs whose lipoprotein lipase showed abnormal substrate specificity and kinetics. Hoeg et al. (1983) reported an extraordinary patient in whom the diagnosis was first made at the age of 75. Absolute abstinence from alcohol and a self-imposed low-fat diet may have been responsible for the long survival. Since childhood, he had had recurrent abdominal pain, nausea and vomiting, diagnosed as 'gall bladder attacks,' until age 48 when he was first hospitalized. During the next 15 years he had 1 to 3 episodes of abdominal pain per year necessitating hospitalization. These episodes were diagnosed as acute pancreatitis and were sometimes associated with an evanescent papular rash. Jaundice that developed rapidly at age 64 was found to be due to bile duct stenosis, which was surgically relieved. He had, at age 73, ischemic heart disease and a femoral bruit. </p><p>Eckel (1989) provided an extensive review of lipoprotein lipase. Auwerx et al. (1989) classified LPL deficiency at the protein level on the basis of the absence (class I) or presence of defective enzyme protein, and whether it binds (class II) or does not bind (class III) to heparin. </p><p>Slight to moderate hemolysis is often present in plasma from patients with primary LPL deficiency. Cantin et al. (1995) found that, while osmotic fragility was similar to that in control subjects, plasma prehemoglobin was significantly increased. Furthermore, an increase in plasma lysophosphatidylcholine concentration was found. This was thought to be due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. The findings, along with a positive correlation between plasma prehemoglobin and lysophosphatidylcholine levels, suggested that the hemolysis in LPL deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine. </p><p>Feoli-Fonseca et al. (1998) reviewed the cases of 16 infants under 1 year of age who were found to have LPL deficiency; 7 presented with irritability, 2 with lower intestinal bleeding, 5 with pallor, anemia, or splenomegaly, and 2 with a family history or fortuitous discovery. All plasma samples were lactescent at presentation. </p><p>Kawashiri et al. (2005) reported a 22-year-old Japanese male with this mutation who had had no major pancreatic malformations, vascular complications, or severe glucose intolerance despite a 32-year clinical history of pancreatitis recurring more than 20 times. Based on the long-term observations of this patient, Kawashiri et al. (2005) proposed that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline. </p>
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</span>
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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>Clinical Management</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 the patients reviewed by Feoli-Fonseca et al. (1998), chylomicronemia responded rapidly to dietary fat restriction, and it was possible to maintain satisfactory metabolic control for a prolonged period of time. Only 1 adolescent girl had an episode of pancreatitis associated with the use of oral contraceptives. No persistent adverse effects on growth were seen. The development of pancreatitis indicates that estrogen therapy should be avoided in LPL-deficient patients. </p><p>Heaney et al. (1999) reported a dramatic response to antioxidant therapy (Antox, 1 tablet 4 times daily) in 3 patients with familial lipoprotein lipase deficiency complicated by frequent severe episodes of pancreatitis. Because these patients failed to respond to other dietary and pharmacologic measures, the authors concluded that antioxidant therapy may be an important advance in the management of this type of patient. </p><p>Triglycerides enter the plasma compartment from the liver in the form of very low density lipoprotein (VLDL) particles, and from dietary fat absorption in the intestine, in the form of chylomicrons. LPL activity is the primary mechanism by which plasma triglycerides are hydrolyzed, leading to subsequent efficient removal of triglyceride-rich lipoprotein remnants. In the absence of the LPL-dependent pathway, the removal of triglyceride-rich lipoproteins occurs through a less efficient LPL-independent pathway, resulting in massively elevated triglyceride levels. APOC3 (107720) is known to inhibit LPL (609708), although there is also evidence that APOC3 increases the level of plasma triglycerides through an LPL-independent mechanism. Gaudet et al. (2014) administered an inhibitor of APOC3 mRNA, called ISIS 304801, to treat 3 patients with familial chylomicronemia syndrome due to LPL deficiency and triglyceride levels ranging from 1,406 to 2,083 mg/dl (15.9-23.5 mM/l). After 13 weeks of study drug administration, plasma APOC3 levels were reduced by 71 to 90% and triglyceride levels by 56 to 86%. During the study, all patients had a triglyceride level of less than 500 mg/dl (5.7 mM/l) with treatment. Gaudet et al. (2014) concluded that these data supported the role of APOC3 as a key regulator of LPL-independent pathways of triglyceride metabolism. </p><p>Witztum et al. (2019) conducted a phase 3 double-blind randomized 52-week trial to evaluate the safety and effectiveness of antisense-mediated inhibition of hepatic APOC3 by volanesorsen in 66 patients with familial chylomicronemia syndrome. Most of the patients were homozygous or compound heterozygous for mutations in the LPL gene. The primary endpoint was the percentage change in fasting triglyceride levels from baseline to 3 months. Patients receiving volanesorsen had an 84% decrease from baseline in mean plasma apolipoprotein C-III levels at 3 months, whereas patients receiving placebo had a 6.1% increase from baseline (p less than 0.001). Patients receiving volanesorsen had a 77% decrease in mean triglyceride levels, whereas patients receiving placebo had an 18% increase (p less than 0.001). At 3 months, 77% of patients in the volanesorsen group, compared with 10% of patients in the placebo group, had triglyceride levels of less than 750 mg/dl. Twenty of the 33 patients who received volanesorsen had injection site reactions, whereas none of the patients who received placebo had such reactions. No patients in the placebo group had platelet counts below 100,000/microliter, whereas 15 of 33 patients in the volanesorsen group had such levels, including 2 who had levels below 25,000/microliter. No patient had platelet counts below 50,000/microliter after enhanced platelet monitoring began. Witztum et al. (2019) concluded that volanesorsen lowered triglyceride levels to less than 750 mg/dl in 77% of patients with familial chylomicronemia syndrome. Thrombocytopenia and injection site reactions were common adverse events. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>For a full discussion of the molecular genetics of lipoprotein lipase deficiency (type I hyperlipoproteinemia), see the entry for the LPL gene (609708).</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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Berger et al. (1962); Brunzell et al. (1980); Emi et al. (1990);
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Franklin (1937); Fredrickson and Levy (1972); Henderson et al.
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(1991); Sternowsky et al. (1977); Wessler and Avioli (1969)
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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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Auwerx, J. H., Babirak, S. P., Fujimoto, W. Y., Iverius, P. H., Brunzell, J. D.
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<strong>Defective enzyme protein in lipoprotein lipase deficiency.</strong>
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Europ. J. Clin. Invest. 19: 433-437, 1989.
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[PubMed: 2511019]
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[Full Text: https://doi.org/10.1111/j.1365-2362.1989.tb00255.x]
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<p class="mim-text-font">
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Berger, G. M. B.
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<strong>An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.</strong>
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Am. J. Clin. Path. 88: 369-373, 1987.
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Berger, H., Richter, A., Gilardi, A., Wagner, H.
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<strong>Essential familial hyperlipaemia in a 2-year-old child.</strong>
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Ann. Paediat. 199: 445-466, 1962.
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Boggs, J. D., Hsia, D. Y.-Y., Mais, R. F., Bigler, J. A.
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<strong>The genetic mechanism of idiopathic hyperlipemia.</strong>
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<strong>Hypertriglyceridemia associated with deficiency of C-II apoprotein in plasma lipoproteins.</strong>
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Brunzell, J. D., Chait, A., Nikkila, E. A., Ehnholm, C., Huttunen, J. K., Steiner, G.
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Metabolism 29: 624-629, 1980.
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Cantin, B., Boudriau, S., Bertrand, M., Brun, L.-D., Gagne, C., Rogers, P. A., Ven Murthy, M. R., Lupien, P.-J., Julien, P.
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Metabolism 44: 652-658, 1995.
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[PubMed: 7752915]
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[Full Text: https://doi.org/10.1016/0026-0495(95)90124-8]
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Eckel, R. H.
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<strong>Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases.</strong>
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New Eng. J. Med. 320: 1060-1068, 1989. Note: Erratum: New Eng. J. Med. 322: 477 only, 1990.
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[Full Text: https://doi.org/10.1056/NEJM198904203201607]
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Emi, M., Wilson, D. E., Iverius, P.-H., Wu, L., Hata, A., Hegele, R., Williams, R. R., Lalouel, J.-M.
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<strong>Missense mutation (gly-to-glu188) of human lipoprotein lipase imparting functional deficiency.</strong>
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J. Biol. Chem. 265: 5910-5916, 1990.
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[PubMed: 1969408]
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Feoli-Fonseca, J. C., Levy, E., Godard, M., Lambert, M.
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J. Pediat. 133: 417-423, 1998.
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<strong>Splenomegaly with lipaemia.</strong>
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Proc. Roy. Soc. Med. 30: 711, 1937.
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[PubMed: 20915480]
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<strong>Familial hyperlipoproteinemia.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (3rd ed.)</strong>
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New York: McGraw-Hill (pub.) 1972. Pp. 545-614.
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Gaudet, D., Brisson, D., Tremblay, K., Alexander, V. J., Singleton, W., Hughes, S. G., Geary, R. S., Baker, B. F., Graham, M. J., Crooke, R. M., Witztum, J. L.
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<strong>Targeting APOC3 in the familial chylomicronemia syndrome.</strong>
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Heaney, A. P., Sharer, N., Rameh, B., Braganza, J. M., Durrington, P. N.
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<strong>Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.</strong>
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J. Clin. Endocr. Metab. 84: 1203-1205, 1999.
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Henderson, H. E., Ma, Y., Hassan, M. F., Monsalve, M. V., Marais, A. D., Winkler, F., Gubernator, K., Peterson, J., Brunzell, J. D., Hayden, M. R.
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<strong>Amino acid substitution (ile194-to-thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands: support for a multicentric origin.</strong>
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J. Clin. Invest. 87: 2005-2011, 1991.
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Hoeg, J. M., Osborne, J. C., Jr., Gregg, R. E., Brewer, H. B., Jr.
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<strong>Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man.</strong>
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Am. J. Med. 75: 889-892, 1983.
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[PubMed: 6638056]
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Holt, L. E., Jr., Aylward, F. X., Timbers, H. G.
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<strong>Idiopathic familial lipemia.</strong>
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Kawashiri, M., Higashikata, T., Mizuno, M., Takata, M., Katsuda, S., Miwa, K., Nozue, T., Nohara, A., Inazu, A., Kobayashi, J., Koizumi, J., Mabuchi, H.
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<strong>Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL-Arita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.</strong>
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Nevin, N. C., Slack, J.
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<strong>Hyperlipidaemic xanthomatosis II: mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.</strong>
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</p>
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<p class="mim-text-font">
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Schreibman, P. H., Arons, D. L., Saudek, C. D., Arky, R. A.
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<strong>Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia.</strong>
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J. Clin. Invest. 52: 2074-2082, 1973.
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Sternowsky, H. J., Gaertner, U., Stahnkel, N., Kaukel, E.
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<strong>Juvenile familial hypertriglyceridemia and growth retardation: clinical and biochemical observations in three siblings.</strong>
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Europ. J. Pediat. 125: 59-70, 1977.
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[PubMed: 192555]
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</p>
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<li>
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<p class="mim-text-font">
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Wessler, S., Avioli, L. A.
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<strong>Familial hyperlipoproteinemia.</strong>
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JAMA 207: 929-937, 1969.
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[PubMed: 5818258]
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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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Witztum, J. L., Gaudet, D., Freedman, S. D., Alexander, V. J., Digenio, A., Williams, K. R., Yang, Q., Hughes, S. G., Geary, R. S., Arca, M., Stroes, E. S. G., Bergeron, J., Soran, H., Civeira, F., Hemphill, L., Tsimikas, S., Blom, D. J., O'Dea, L., Bruckert, E.
|
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<strong>Volanesorsen and triglyceride levels in familial chylomicronemia syndrome.</strong>
|
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New Eng. J. Med. 381: 531-542, 2019.
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[PubMed: 31390500]
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[Full Text: https://doi.org/10.1056/NEJMoa1715944]
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</p>
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</li>
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</ol>
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<div>
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Ada Hamosh - updated : 05/19/2021<br>Ada Hamosh - updated : 1/12/2015<br>John A. Phillips, III - updated : 3/19/2007<br>John A. Phillips, III - updated : 4/13/2005<br>Marla J. F. O'Neill - updated : 2/4/2005<br>Victor A. McKusick - updated : 6/11/2004<br>John A. Phillips, III - updated : 9/30/2003<br>Victor A. McKusick - updated : 3/1/2002<br>Victor A. McKusick - updated : 12/27/2001<br>John A. Phillips, III - updated : 7/11/2001<br>Victor A. McKusick - updated : 4/5/2001<br>Victor A. McKusick - updated : 4/21/2000<br>Wilson H. Y. Lo - updated : 10/26/1999<br>John A. Phillips, III - updated : 10/7/1999<br>Victor A. McKusick - updated : 9/15/1999<br>Ada Hamosh - updated : 5/18/1999<br>Victor A. McKusick - updated : 2/4/1999<br>Victor A. McKusick - updated : 9/14/1998<br>Victor A. McKusick - updated : 9/1/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 12/31/1997<br>Jennifer P. Macke - updated : 5/30/1997<br>Victor A. McKusick - updated : 5/27/1997<br>Cynthia K. Ewing - updated : 10/8/1996<br>Moyra Smith - updated : 10/7/1996<br>Stylianos E. Antonarakis - updated : 7/3/1996
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Victor A. McKusick : 6/3/1986
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alopez : 05/19/2021<br>carol : 05/30/2019<br>carol : 07/09/2016<br>alopez : 1/12/2015<br>terry : 3/15/2013<br>carol : 9/16/2010<br>terry : 6/3/2009<br>terry : 2/2/2009<br>carol : 3/19/2007<br>alopez : 11/15/2005<br>alopez : 11/15/2005<br>wwang : 5/11/2005<br>wwang : 4/13/2005<br>terry : 2/4/2005<br>tkritzer : 6/29/2004<br>terry : 6/11/2004<br>alopez : 3/17/2004<br>alopez : 9/30/2003<br>alopez : 9/30/2003<br>alopez : 10/21/2002<br>carol : 3/1/2002<br>terry : 3/1/2002<br>carol : 1/9/2002<br>mcapotos : 1/3/2002<br>terry : 12/27/2001<br>alopez : 7/11/2001<br>cwells : 4/12/2001<br>terry : 4/5/2001<br>mcapotos : 5/19/2000<br>mcapotos : 5/18/2000<br>terry : 4/21/2000<br>carol : 10/26/1999<br>mgross : 10/7/1999<br>carol : 9/30/1999<br>jlewis : 9/28/1999<br>terry : 9/15/1999<br>alopez : 5/24/1999<br>alopez : 5/24/1999<br>terry : 5/18/1999<br>carol : 2/7/1999<br>terry : 2/4/1999<br>dkim : 12/10/1998<br>carol : 9/16/1998<br>dkim : 9/14/1998<br>terry : 9/14/1998<br>carol : 9/2/1998<br>terry : 9/1/1998<br>alopez : 6/29/1998<br>terry : 6/25/1998<br>alopez : 2/9/1998<br>alopez : 1/28/1998<br>alopez : 1/28/1998<br>dholmes : 1/6/1998<br>terry : 11/10/1997<br>alopez : 8/1/1997<br>alopez : 7/24/1997<br>alopez : 7/24/1997<br>alopez : 7/8/1997<br>mark : 7/1/1997<br>mark : 6/16/1997<br>alopez : 6/11/1997<br>mark : 5/30/1997<br>mark : 5/30/1997<br>jenny : 5/30/1997<br>terry : 5/27/1997<br>jamie : 11/1/1996<br>terry : 10/28/1996<br>terry : 10/22/1996<br>mark : 10/7/1996<br>carol : 7/3/1996<br>terry : 7/1/1996<br>mark : 6/11/1996<br>terry : 5/13/1996<br>terry : 5/6/1996<br>mark : 5/2/1996<br>terry : 4/24/1996<br>mark : 1/27/1996<br>terry : 1/18/1996<br>mark : 9/22/1995<br>davew : 8/26/1994<br>carol : 5/16/1994<br>warfield : 3/16/1994<br>mimadm : 2/19/1994<br>carol : 11/30/1993
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