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Entry
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- %118830 - CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE
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- OMIM
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<span class="h4">%118830</span>
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<a href="#creationDate"><strong>Creation Date</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=CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23491&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444490" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 444490<br />
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<strong>DO:</strong> 0111419<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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118830
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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HYPERLIPOPROTEINEMIA, TYPE IC
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</h4>
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<a href="/clinicalSynopsis/118830" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<div>
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<span class="h5 mim-font">
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<strong> GI </strong>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Recurrent abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439469002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439469002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2585575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2585575</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 /> - Recurrent pancreatitis attacks<br />
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<span class="h5 mim-font">
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<strong> Lab </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Chylomicronemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878550</a>]</span><br /> - Hyperlipoproteinemia type I <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 /> - Very low postheparin plasma lipolytic activity<br /> - High adipose tissue lipoprotein lipase<br /> - Normal or elevated plasma apolipoprotein C-II<br /> - Lipoprotein lipase inhibitor activity<br />
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<strong> Inheritance </strong>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p><a href="#1" class="mim-tip-reference" title="Brunzell, J. D., Miller, N. E., Alaupovic, P., St. Hilaire, R. J., Wang, C. S., Sarson, D. L., Bloom, S. R., Lewis, B. <strong>Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity.</strong> J. Lipid Res. 24: 12-19, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6833877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6833877</a>]" pmid="6833877">Brunzell et al. (1983)</a> described a mother and her son with hyperlipoproteinemia type I (the chylomicronemia syndrome), very low levels of postheparin plasma lipolytic activity, and circulating inhibitor of lipoprotein lipase, who differed from subjects with lipoprotein lipase deficiency (<a href="/entry/238600">238600</a>) in that the enzyme was present in adipose tissue at much higher levels than those seen in normal subjects. They also differed from subjects with deficiency of apolipoprotein C-II (<a href="/entry/207750">207750</a>) in that apolipoprotein C-II was present in their plasma in normal or elevated amounts. They appeared to have an inhibitor to lipoprotein lipase activity that inhibited that activity eluted from adipose tissue with heparin and that activity present in postheparin of normals. The inhibitor was nondialyzable, heat-stable, and sensitive to repeated freezing and thawing; it appeared to be present in the nonlipoprotein fraction of plasma. The same abnormality may have been present in her father and grandson; if the latter is true, this would be an instance of male-to-male transmission. The mother was a 47-year-old white woman who was found to have massive hypertriglyceridemia after developing eruptive xanthomas on the outer aspects of both feet. Plasma triglyceride level was 3,865 mg/dl. She had a history of recurrent undiagnosed abdominal pain since the age of 16 years. Alcohol intake was minimal and she was not taking any hormone preparations. The spleen was palpable. She was not obese. Dietary fat restriction reduced triglyceride levels and prevented recurrent attacks of pancreatitis. Her father had died at age 39 years after surgery for acute abdominal pain. Her only son, aged 21 years, had marked hypertriglyceridemia but was asymptomatic and had no xanthomas or hepatosplenomegaly. She had a grandson who at 4 months of age had grossly lipemic plasma with triglyceride of 2400 mg/dl and cholesterol of 246 mg/dl. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6833877" 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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Brunzell, J. D., Miller, N. E., Alaupovic, P., St. Hilaire, R. J., Wang, C. S., Sarson, D. L., Bloom, S. R., Lewis, B.
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<strong>Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity.</strong>
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J. Lipid Res. 24: 12-19, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6833877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6833877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6833877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Victor A. McKusick : 11/13/1987
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mimadm : 6/25/1994<br>warfield : 3/31/1994<br>supermim : 3/16/1992<br>carol : 5/8/1991<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE
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<p>Brunzell et al. (1983) described a mother and her son with hyperlipoproteinemia type I (the chylomicronemia syndrome), very low levels of postheparin plasma lipolytic activity, and circulating inhibitor of lipoprotein lipase, who differed from subjects with lipoprotein lipase deficiency (238600) in that the enzyme was present in adipose tissue at much higher levels than those seen in normal subjects. They also differed from subjects with deficiency of apolipoprotein C-II (207750) in that apolipoprotein C-II was present in their plasma in normal or elevated amounts. They appeared to have an inhibitor to lipoprotein lipase activity that inhibited that activity eluted from adipose tissue with heparin and that activity present in postheparin of normals. The inhibitor was nondialyzable, heat-stable, and sensitive to repeated freezing and thawing; it appeared to be present in the nonlipoprotein fraction of plasma. The same abnormality may have been present in her father and grandson; if the latter is true, this would be an instance of male-to-male transmission. The mother was a 47-year-old white woman who was found to have massive hypertriglyceridemia after developing eruptive xanthomas on the outer aspects of both feet. Plasma triglyceride level was 3,865 mg/dl. She had a history of recurrent undiagnosed abdominal pain since the age of 16 years. Alcohol intake was minimal and she was not taking any hormone preparations. The spleen was palpable. She was not obese. Dietary fat restriction reduced triglyceride levels and prevented recurrent attacks of pancreatitis. Her father had died at age 39 years after surgery for acute abdominal pain. Her only son, aged 21 years, had marked hypertriglyceridemia but was asymptomatic and had no xanthomas or hepatosplenomegaly. She had a grandson who at 4 months of age had grossly lipemic plasma with triglyceride of 2400 mg/dl and cholesterol of 246 mg/dl. </p>
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Brunzell, J. D., Miller, N. E., Alaupovic, P., St. Hilaire, R. J., Wang, C. S., Sarson, D. L., Bloom, S. R., Lewis, B.
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<strong>Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity.</strong>
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J. Lipid Res. 24: 12-19, 1983.
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alopez : 03/18/2004<br>mimadm : 6/25/1994<br>warfield : 3/31/1994<br>supermim : 3/16/1992<br>carol : 5/8/1991<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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