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Entry
- #269700 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
- OMIM
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<span class="h4">#269700</span>
<br />
<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/269700"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS608594"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111136" 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>
<div><a href="http://www.informatics.jax.org/disease/269700" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0111136" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:269700" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 528<br />
<strong>DO:</strong> 0111136<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
269700
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2<br />
SEIP SYNDROME<br />
BERARDINELLI SYNDROME<br />
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM<br />
LIPOATROPHIC DIABETES, CONGENITAL<br />
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2<br />
BRUNZELL SYNDROME, BSCL2-RELATED
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover 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>
<td>
<span class="mim-font">
<a href="/geneMap/11/489?start=-3&limit=10&highlight=489">
11q12.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Lipodystrophy, congenital generalized, type 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269700"> 269700 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
BSCL2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606158"> 606158 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/269700" 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>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS608594" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/269700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/269700" 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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Increased linear growth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241240</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large mandible <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br /> -
Triangular facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span><br /> -
Acromegaloid appearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315693</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertrophic cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent umbilicus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837795</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001544</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001544</a>]</span><br /> -
Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Hepatic steatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span><br /> -
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pancreatitis, acute <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197456007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197456007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85</a>, <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">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/577.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">577.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001339</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001735" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001735</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001735" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001735</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Voracious appetite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102608004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102608004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58424009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58424009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267023007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267023007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020505</a>, <a href="https://bioportal.bioontology.org/search?q=C0426584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Genital anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0744356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0744356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000078</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Labial hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3751000119101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3751000119101</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/624.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">624.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0404531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0404531</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000065" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000065</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000065" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000065</a>]</span><br /> -
Clitoromegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80212005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80212005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N90.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N90.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/624.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">624.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polycystic ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/781067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">781067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237055002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237055002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000147</a>]</span><br /> -
Decreased fertility in females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nephrolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95570007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Advanced bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123982003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123982003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0545053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0545053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span><br /> -
Lytic cystic lesions in appendicular bones (occurs after puberty) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002833</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249752003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249752003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299462005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299462005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Acanthosis nigricans <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402599005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72129000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72129000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837797</a>]</span><br /> -
Nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849256</a>]</span><br /> -
Generalized muscular appearance from birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837799</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003716</a>]</span><br /> -
Hernias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414403008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414403008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40-K46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40-K46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019270</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100790</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation, mild <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- High-pitched voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51406002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51406002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Insulin-resistant diabetes mellitus at puberty <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837792</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000877</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000877</a>]</span><br /> -
Decreased fertility in females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hyperinsulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131103005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131103005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83469008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83469008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0852795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0852795</a>, <a href="https://bioportal.bioontology.org/search?q=C0020459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000842" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000842</a>]</span><br /> -
Hypertriglyceridemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302870006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302870006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166848004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166848004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020557</a>, <a href="https://bioportal.bioontology.org/search?q=C1522137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522137</a>, <a href="https://bioportal.bioontology.org/search?q=C0813230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span><br /> -
Decreased serum leptin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003292" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003292</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003292" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003292</a>]</span><br /> -
Elevated liver enzymes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset at birth or early infancy<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutations in the seipin gene (BSCL2, <a href="/entry/606158#0001">606158.0001</a>).<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Lipodystrophy, congenital generalized
- <a href="/phenotypicSeries/PS608594">PS608594</a>
- 5 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
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<a href="/entry/620680"> Lipodystrophy, congenital generalized, type 5 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/620680"> 620680 </a>
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<a href="/entry/123695"> PCYT1A </a>
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<a href="/entry/123695"> 123695 </a>
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<a href="/geneMap/7/603?start=-3&limit=10&highlight=603"> 7q31.2 </a>
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<a href="/entry/612526"> Lipodystrophy, congenital generalized, type 3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/612526"> 612526 </a>
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<a href="/entry/601047"> CAV1 </a>
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<span class="mim-font">
<a href="/entry/601047"> 601047 </a>
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<a href="/geneMap/9/659?start=-3&limit=10&highlight=659"> 9q34.3 </a>
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<a href="/entry/608594"> Lipodystrophy, congenital generalized, type 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/608594"> 608594 </a>
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<a href="/entry/603100"> AGPAT2 </a>
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<span class="mim-font">
<a href="/entry/603100"> 603100 </a>
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<span class="mim-font">
<a href="/geneMap/11/489?start=-3&limit=10&highlight=489"> 11q12.3 </a>
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<a href="/entry/269700"> Lipodystrophy, congenital generalized, type 2 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/269700"> 269700 </a>
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<a href="/entry/606158"> BSCL2 </a>
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<span class="mim-font">
<a href="/entry/606158"> 606158 </a>
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<span class="mim-font">
<a href="/geneMap/17/577?start=-3&limit=10&highlight=577"> 17q21.2 </a>
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<span class="mim-font">
<a href="/entry/613327"> Lipodystrophy, congenital generalized, type 4 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/613327"> 613327 </a>
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<span class="mim-font">
<a href="/entry/603198"> CAVIN1 </a>
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<span class="mim-font">
<a href="/entry/603198"> 603198 </a>
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<p>A number sign (#) is used with this entry because congenital generalized lipodystrophy type 2 (CGL2) is caused by homozygous or compound heterozygous mutation in the gene encoding seipin (BSCL2; <a href="/entry/606158">606158</a>) on chromosome 11q12.</p><p>Biallelic mutation in the BSCL2 gene can also cause progressive encephalopathy with or without lipodystrophy (PELD; <a href="/entry/615924">615924</a>), a severe neurodegenerative disorder.</p>
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<p>Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (<a href="#5" class="mim-tip-reference" title="Garg, A. &lt;strong&gt;Acquired and inherited lipodystrophies.&lt;/strong&gt; New Eng. J. Med. 350: 1220-1234, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15028826/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15028826&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra025261&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15028826">Garg, 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028826" 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>For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (<a href="/entry/608594">608594</a>).</p>
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<p><a href="#11" class="mim-tip-reference" title="Van Maldergem, L., Magre, J., Khallouf, T. E., Gedde-Dahl, T., Jr., Delepine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C. S., Bonnici, F., Panz, V. R., Medina, J.-L., and 19 others. &lt;strong&gt;Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.&lt;/strong&gt; J. Med. Genet. 39: 722-733, 2002. Note: Erratum: J. Med. Genet. 40: 150 only, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12362029/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12362029&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.10.722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12362029">Van Maldergem et al. (2002)</a> studied 70 affected individuals from 44 unrelated families with congenital generalized lipodystrophy. Forty-five patients from 24 families had BSCL2 and 21 patients from 17 families had BSCL1 (<a href="/entry/608594">608594</a>). Two European families had no BSCL2 mutations and did not show linkage to chromosome 9q34, indicating the existence of an additional locus, which the authors termed BSCLX. All subjects of African ancestry (35%) were in the BSCL1 group. Congenital lipoatrophy occurred in 79.5% of patients with BSCL2 compared to 61% of other cases. Onset of diabetes was the same in all patients. All patients had skeletal muscle hypertrophy, and the prevalence of hypertrophic cardiomyopathy was approximately 20% in all groups. Seven of 45 (15%) BSCL2 patients died prematurely (range, 4 months to 35 years of age), compared to no premature deaths in patients with BSCL1. The most significant finding was an increased frequency of mild or moderate intellectual impairment in the BSCL2 group (78%) compared to BSCL1 (10%), yielding an odds ratio of 23.5. There was no correlation between site and type of seipin mutation and intellectual impairment. <a href="#11" class="mim-tip-reference" title="Van Maldergem, L., Magre, J., Khallouf, T. E., Gedde-Dahl, T., Jr., Delepine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C. S., Bonnici, F., Panz, V. R., Medina, J.-L., and 19 others. &lt;strong&gt;Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.&lt;/strong&gt; J. Med. Genet. 39: 722-733, 2002. Note: Erratum: J. Med. Genet. 40: 150 only, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12362029/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12362029&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.10.722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12362029">Van Maldergem et al. (2002)</a> concluded that BSCL1 is a milder disease than BSCL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12362029" 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="Simha, V., Garg, A. &lt;strong&gt;Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 5433-5437, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14602785/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14602785&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2003-030835&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14602785">Simha and Garg (2003)</a> compared whole-body adipose tissue distribution by magnetic resonance imaging (MRI) in 10 congenital generalized lipodystrophy patients, of whom 7 (6 females, 1 male) had CGL1 (<a href="/entry/608594">608594</a>) and 3 (2 males, 1 female) had CGL2. Both subtypes had marked lack of metabolically active adipose tissue located at most subcutaneous, intermuscular, bone marrow, intraabdominal, and intrathoracic regions. Paucity of mechanical adipose tissue in the palms, soles, orbits, scalp, and periarticular regions was noted in CGL2, whereas it was well preserved in CGL1 patients. The authors concluded that congenital generalized lipodystrophy patients with BSCL2 mutations have a more severe lack of body fat, which affects both metabolically active and mechanical adipose tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14602785" 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="#3" class="mim-tip-reference" title="Friguls, B., Coroleu, W., del Alcazar, R., Hilbert, P., Van Maldergem, L., Pintos-Morell, G. &lt;strong&gt;Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.&lt;/strong&gt; Europ. J. Med. Genet. 52: 14-16, 2009. Note: Erratum: Europ. J. Med. Genet. 52: 278-279, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19041432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19041432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2008.10.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19041432">Friguls et al. (2009)</a> reported a 4-month-old Chinese boy with a severe form of congenital lipodystrophy caused by a homozygous truncating mutation in the BSCL2 gene (E189X; <a href="/entry/606158#0016">606158.0016</a>). He had hirsutism with dry, thick hair, enlarged hands and feet, and lipoatrophy affecting the trunk, limbs, and face. He also had hepatomegaly with steatosis, acute pancreatitis, insulin resistance, and low serum leptin. Cardiac examination revealed hypertension and an apical murmur, and ultrasound showed severe obstructive and asymmetric septal hypertrophic cardiomyopathy. Dietary management resulted in clinical improvement. <a href="#3" class="mim-tip-reference" title="Friguls, B., Coroleu, W., del Alcazar, R., Hilbert, P., Van Maldergem, L., Pintos-Morell, G. &lt;strong&gt;Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.&lt;/strong&gt; Europ. J. Med. Genet. 52: 14-16, 2009. Note: Erratum: Europ. J. Med. Genet. 52: 278-279, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19041432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19041432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2008.10.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19041432">Friguls et al. (2009)</a> emphasized the early onset of severe cardiac disease in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19041432" 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="#7" class="mim-tip-reference" title="Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D. C., Bakhti, H., Garg, A., Hilbert, P. &lt;strong&gt;Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.&lt;/strong&gt; Clin. Genet. 89: 434-441, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26072926/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26072926&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26072926[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12623&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26072926">Haghighi et al. (2016)</a> compared the clinical features of 5 patients with genetically confirmed CGL1 and 5 with CGL2. All patients had generalized lipodystrophy and muscular hypertrophy, and most had hepatomegaly and splenomegaly. Additional features were found in both groups, but tended to be more frequent in patients with CGL2 than in those with CGL1; these features included acromegaloid appearance, large ears, triangular facies, acanthosis nigricans, increased insulin levels, elevated liver enzymes, hernias, and cardiomyopathy. Genital abnormalities and hypertriglyceridemia were found equally in both groups. Two CGL1 patients and 1 CLG2 patient had nephrolithiasis. Only 1 CGL1 patient had bone cysts, and only CGL2 patients had intellectual disability, hypertrichosis, and high-pitched voice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26072926" 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>Using a genomewide scan of 9 BSCL families from 2 geographic clusters in Lebanon and Norway, <a href="#8" class="mim-tip-reference" title="Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J. &lt;strong&gt;Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.&lt;/strong&gt; Nature Genet. 28: 365-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11479539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11479539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11479539">Magre et al. (2001)</a> identified a disease locus, designated BSCL2, within a 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13 (maximum multipoint lod score of 13.2). Five Lebanese families were homozygous for the same alleles at 9 contiguous markers within an interval spanned by markers D11S4076 to PYGM (<a href="/entry/608455">608455</a>), probably because of a founder effect. Among families clustered in the southwest region of Norway, <a href="#8" class="mim-tip-reference" title="Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J. &lt;strong&gt;Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.&lt;/strong&gt; Nature Genet. 28: 365-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11479539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11479539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11479539">Magre et al. (2001)</a> found that affected family members were homozygous for 4 consecutive markers, D11S1765, D11S4076, CA10, and CA9, confirming a founder effect. Analysis of 20 additional BSCL families of various ethnic origins led to the identification of 11 families in which the disease cosegregated with the 11q13 locus; the remaining families provided confirmation of linkage to 9q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of congenital generalized lipodystrophy type 2 in the families reported by <a href="#8" class="mim-tip-reference" title="Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J. &lt;strong&gt;Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.&lt;/strong&gt; Nature Genet. 28: 365-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11479539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11479539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11479539">Magre et al. (2001)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In chromosome 11q13-linked families with congenital generalized lipodystrophy type 2, and in 3 isolated patients, <a href="#8" class="mim-tip-reference" title="Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J. &lt;strong&gt;Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.&lt;/strong&gt; Nature Genet. 28: 365-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11479539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11479539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11479539">Magre et al. (2001)</a> identified mutations in the BSCL2 gene (<a href="/entry/606158#0001">606158.0001</a>-<a href="/entry/606158#0012">606158.0012</a>). Affected individuals were either homozygous for a specific mutation or compound heterozygous; all parents of unaffected sibs carried only 1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479539" 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="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. &lt;strong&gt;AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.&lt;/strong&gt; Nature Genet. 31: 21-23, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11967537/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11967537&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng880&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11967537">Agarwal et al. (2002)</a> pointed out that individuals with congenital generalized lipodystrophy type 2 who carry mutations in the BSCL2 gene tend to have mild mental retardation and cardiomyopathy, features not seen in families with congenital generalized lipodystrophy type 1 who have mutations in the AGPAT2 gene. Based on the high expression of seipin in brain and weak expression in adipocytes, <a href="#8" class="mim-tip-reference" title="Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J. &lt;strong&gt;Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.&lt;/strong&gt; Nature Genet. 28: 365-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11479539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11479539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11479539">Magre et al. (2001)</a> suggested a primary defect in hypothalamic pituitary axis. <a href="#1" class="mim-tip-reference" title="Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A. &lt;strong&gt;AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.&lt;/strong&gt; Nature Genet. 31: 21-23, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11967537/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11967537&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng880&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11967537">Agarwal et al. (2002)</a> suggested that different forms of congenital generalized lipodystrophy may be caused by disruption of different pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11479539+11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R. &lt;strong&gt;Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.&lt;/strong&gt; J. Clin. Endocr. Metab. 89: 2916-2922, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15181077/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15181077&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2003-030485&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15181077">Fu et al. (2004)</a> screened for mutations in AGPAT2 and BSCL2 in 27 families with congenital generalized lipodystrophy. In 3 sibs with the features of congenital generalized lipodystrophy with cystic angiomatosis of long bones (a phenotype designated Brunzell syndrome) they identified a splice site mutation in AGPAT2 (<a href="/entry/603100#0002">603100.0002</a>). Eighteen patients from 15 families from the same region of northeastern Brazil were homozygous for a frameshift mutation in BSCL2 (669insA; <a href="/entry/606158#0006">606158.0006</a>). Despite having the same mutation, the subjects had widely divergent clinical manifestations. The authors concluded that there did not appear to be any distinguishing clinical characteristics between subjects with congenital generalized lipodystrophy with AGPAT2 or BSCL2 mutations with the exception of mental retardation in carriers of BSCL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" 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="Ebihara, K., Kusakabe, T., Masuzaki, H., Kobayashi, N., Tanaka, T., Chusho, H., Miyanaga, F., Miyazawa, T., Hayashi, T., Hosoda, K., Ogawa, Y., Nakao, K. &lt;strong&gt;Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.&lt;/strong&gt; J. Clin. Endocr. Metab. 89: 2360-2364, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15126564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15126564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2003-031211&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15126564">Ebihara et al. (2004)</a> reported 4 Japanese patients with Berardinelli-Seip congenital generalized lipodystrophy. In 3 of them the same homozygous nonsense mutation in the BSCL2 gene was found (<a href="/entry/606158#0015">606158.0015</a>); analysis of flanking microsatellite markers and single-nucleotide polymorphisms (SNPs) within the gene revealed common ancestry in which the mutation originated. No mutation in either the BSCL2 or the AGPAT2 (<a href="/entry/603100">603100</a>) gene was found in the fourth patient, whose phenotype was considered atypical of patients with mutation in either gene. The authors stated that this was the first report of gene and phenotype analysis of congenital generalized lipodystrophy in Japanese. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15126564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Population Genetics</strong>
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<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
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<p><a href="#6" class="mim-tip-reference" title="Gedde-Dahl, T., Jr., Trygstad, O., Van Maldergem, L., Magre, J., van der Hagen, C. B., Olaisen, B., Stenersen, M., Mevag, B., Berardinelli-Seip Study Group. &lt;strong&gt;Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping.&lt;/strong&gt; Acta Paediat. Suppl. 413: 52-58, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8783773/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8783773&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1996.tb14266.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8783773">Gedde-Dahl et al. (1996)</a> stated that 5 of the 6 families studied by <a href="#9" class="mim-tip-reference" title="Seip, M., Trygstad, O. &lt;strong&gt;Generalized lipodystrophy, congenital and acquired (lipoatrophy).&lt;/strong&gt; Acta Paediat. Suppl. 413: 2-28, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8783769/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8783769&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1996.tb14262.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8783769">Seip and Trygstad (1996)</a> came from adjacent rural 'municipalities' of southwestern Norway. Six patients from this area were born between 1951 and 1973, and none between 1974 and 1995. The absence of new cases might be explained by a decrease in the intraregion marriage rate and inbreeding. Genealogic investigation showed that the mutation must have occurred at least 400 years ago. The sixth family was clinically different and geographically sporadic from a Finnish-descent rural east Norwegian population. In general, males appeared to be less severely affected than females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8783769+8783773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Agarwal2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A.
<strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong>
Nature Genet. 31: 21-23, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11967537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11967537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11967537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng880" target="_blank">Full Text</a>]
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<a id="Ebihara2004" class="mim-anchor"></a>
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<p class="mim-text-font">
Ebihara, K., Kusakabe, T., Masuzaki, H., Kobayashi, N., Tanaka, T., Chusho, H., Miyanaga, F., Miyazawa, T., Hayashi, T., Hosoda, K., Ogawa, Y., Nakao, K.
<strong>Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.</strong>
J. Clin. Endocr. Metab. 89: 2360-2364, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15126564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15126564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15126564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2003-031211" target="_blank">Full Text</a>]
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<a id="Friguls2009" class="mim-anchor"></a>
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<p class="mim-text-font">
Friguls, B., Coroleu, W., del Alcazar, R., Hilbert, P., Van Maldergem, L., Pintos-Morell, G.
<strong>Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.</strong>
Europ. J. Med. Genet. 52: 14-16, 2009. Note: Erratum: Europ. J. Med. Genet. 52: 278-279, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19041432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19041432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19041432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2008.10.006" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Fu2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R.
<strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong>
J. Clin. Endocr. Metab. 89: 2916-2922, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15181077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15181077</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15181077[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15181077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2003-030485" target="_blank">Full Text</a>]
</p>
</div>
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<a id="5" class="mim-anchor"></a>
<a id="Garg2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garg, A.
<strong>Acquired and inherited lipodystrophies.</strong>
New Eng. J. Med. 350: 1220-1234, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15028826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15028826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15028826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMra025261" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Gedde-Dahl1996" class="mim-anchor"></a>
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Gedde-Dahl, T., Jr., Trygstad, O., Van Maldergem, L., Magre, J., van der Hagen, C. B., Olaisen, B., Stenersen, M., Mevag, B., Berardinelli-Seip Study Group.
<strong>Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping.</strong>
Acta Paediat. Suppl. 413: 52-58, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8783773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8783773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8783773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1996.tb14266.x" target="_blank">Full Text</a>]
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<a id="Haghighi2016" class="mim-anchor"></a>
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Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D. C., Bakhti, H., Garg, A., Hilbert, P.
<strong>Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.</strong>
Clin. Genet. 89: 434-441, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26072926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26072926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26072926[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26072926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/cge.12623" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Magre2001" class="mim-anchor"></a>
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Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J.
<strong>Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.</strong>
Nature Genet. 28: 365-370, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng585" target="_blank">Full Text</a>]
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<a id="Seip1996" class="mim-anchor"></a>
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Seip, M., Trygstad, O.
<strong>Generalized lipodystrophy, congenital and acquired (lipoatrophy).</strong>
Acta Paediat. Suppl. 413: 2-28, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8783769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8783769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8783769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1651-2227.1996.tb14262.x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Simha2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simha, V., Garg, A.
<strong>Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes.</strong>
J. Clin. Endocr. Metab. 88: 5433-5437, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14602785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14602785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14602785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1210/jc.2003-030835" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Van Maldergem2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van Maldergem, L., Magre, J., Khallouf, T. E., Gedde-Dahl, T., Jr., Delepine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C. S., Bonnici, F., Panz, V. R., Medina, J.-L., and 19 others.
<strong>Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.</strong>
J. Med. Genet. 39: 722-733, 2002. Note: Erratum: J. Med. Genet. 40: 150 only, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12362029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12362029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12362029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.39.10.722" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Cassandra L. Kniffin - updated : 5/23/2016
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Cassandra L. Kniffin - updated : 3/29/2010<br>Cassandra L. Kniffin - updated : 6/9/2009<br>Cassandra L. Kniffin - updated : 3/4/2009<br>John A. Phillips, III - updated : 12/17/2007<br>John A. Phillips, III - updated : 11/14/2006<br>John A. Phillips, III - updated : 4/5/2006<br>Anne M. Stumpf - updated : 7/21/2005<br>John A. Phillips, III - updated : 1/10/2005<br>Cassandra L. Kniffin - updated : 10/22/2004<br>Victor A. McKusick - updated : 7/2/2002<br>Victor A. McKusick - updated : 4/30/2002<br>John A. Phillips, III - updated : 3/20/2000<br>Ada Hamosh - updated : 9/3/1999<br>Victor A. McKusick - updated : 6/26/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 01/11/2024
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carol : 01/10/2024<br>carol : 04/02/2021<br>carol : 05/25/2016<br>ckniffin : 5/23/2016<br>carol : 8/12/2014<br>carol : 8/12/2014<br>ckniffin : 8/11/2014<br>carol : 2/16/2011<br>carol : 2/16/2011<br>terry : 2/16/2011<br>terry : 2/16/2011<br>carol : 9/10/2010<br>wwang : 3/29/2010<br>ckniffin : 3/29/2010<br>terry : 12/17/2009<br>wwang : 6/25/2009<br>ckniffin : 6/9/2009<br>wwang : 4/15/2009<br>terry : 3/25/2009<br>ckniffin : 3/4/2009<br>carol : 2/13/2009<br>alopez : 1/12/2009<br>terry : 8/26/2008<br>carol : 12/17/2007<br>alopez : 11/14/2006<br>carol : 4/14/2006<br>alopez : 4/5/2006<br>alopez : 7/21/2005<br>wwang : 1/11/2005<br>wwang : 1/10/2005<br>tkritzer : 10/25/2004<br>ckniffin : 10/22/2004<br>carol : 5/5/2004<br>ckniffin : 4/28/2004<br>alopez : 2/25/2004<br>terry : 1/2/2003<br>cwells : 7/12/2002<br>terry : 7/2/2002<br>alopez : 5/1/2002<br>terry : 4/30/2002<br>alopez : 7/31/2001<br>alopez : 7/30/2001<br>alopez : 7/30/2001<br>mgross : 5/8/2000<br>terry : 3/20/2000<br>alopez : 9/3/1999<br>alopez : 9/3/1999<br>terry : 9/3/1999<br>carol : 2/19/1999<br>mark : 7/16/1997<br>alopez : 6/26/1997<br>terry : 6/26/1997<br>alopez : 6/11/1997<br>jamie : 12/4/1996<br>terry : 12/3/1996<br>terry : 11/8/1996<br>davew : 6/7/1994<br>mimadm : 4/17/1994<br>pfoster : 3/30/1994<br>warfield : 3/10/1994<br>carol : 3/31/1992<br>supermim : 3/17/1992
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<h3>
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<strong>#</strong> 269700
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LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
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<em>Alternative titles; symbols</em>
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BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2<br />
SEIP SYNDROME<br />
BERARDINELLI SYNDROME<br />
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM<br />
LIPOATROPHIC DIABETES, CONGENITAL<br />
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2<br />
BRUNZELL SYNDROME, BSCL2-RELATED
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<strong>ORPHA:</strong> 528; &nbsp;
<strong>DO:</strong> 0111136; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
11q12.3
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Lipodystrophy, congenital generalized, type 2
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269700
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Autosomal recessive
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3
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BSCL2
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606158
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because congenital generalized lipodystrophy type 2 (CGL2) is caused by homozygous or compound heterozygous mutation in the gene encoding seipin (BSCL2; 606158) on chromosome 11q12.</p><p>Biallelic mutation in the BSCL2 gene can also cause progressive encephalopathy with or without lipodystrophy (PELD; 615924), a severe neurodegenerative disorder.</p>
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<strong>Description</strong>
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<p>Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). </p><p>For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).</p>
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<strong>Clinical Features</strong>
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<p>Van Maldergem et al. (2002) studied 70 affected individuals from 44 unrelated families with congenital generalized lipodystrophy. Forty-five patients from 24 families had BSCL2 and 21 patients from 17 families had BSCL1 (608594). Two European families had no BSCL2 mutations and did not show linkage to chromosome 9q34, indicating the existence of an additional locus, which the authors termed BSCLX. All subjects of African ancestry (35%) were in the BSCL1 group. Congenital lipoatrophy occurred in 79.5% of patients with BSCL2 compared to 61% of other cases. Onset of diabetes was the same in all patients. All patients had skeletal muscle hypertrophy, and the prevalence of hypertrophic cardiomyopathy was approximately 20% in all groups. Seven of 45 (15%) BSCL2 patients died prematurely (range, 4 months to 35 years of age), compared to no premature deaths in patients with BSCL1. The most significant finding was an increased frequency of mild or moderate intellectual impairment in the BSCL2 group (78%) compared to BSCL1 (10%), yielding an odds ratio of 23.5. There was no correlation between site and type of seipin mutation and intellectual impairment. Van Maldergem et al. (2002) concluded that BSCL1 is a milder disease than BSCL2. </p><p>Simha and Garg (2003) compared whole-body adipose tissue distribution by magnetic resonance imaging (MRI) in 10 congenital generalized lipodystrophy patients, of whom 7 (6 females, 1 male) had CGL1 (608594) and 3 (2 males, 1 female) had CGL2. Both subtypes had marked lack of metabolically active adipose tissue located at most subcutaneous, intermuscular, bone marrow, intraabdominal, and intrathoracic regions. Paucity of mechanical adipose tissue in the palms, soles, orbits, scalp, and periarticular regions was noted in CGL2, whereas it was well preserved in CGL1 patients. The authors concluded that congenital generalized lipodystrophy patients with BSCL2 mutations have a more severe lack of body fat, which affects both metabolically active and mechanical adipose tissue. </p><p>Friguls et al. (2009) reported a 4-month-old Chinese boy with a severe form of congenital lipodystrophy caused by a homozygous truncating mutation in the BSCL2 gene (E189X; 606158.0016). He had hirsutism with dry, thick hair, enlarged hands and feet, and lipoatrophy affecting the trunk, limbs, and face. He also had hepatomegaly with steatosis, acute pancreatitis, insulin resistance, and low serum leptin. Cardiac examination revealed hypertension and an apical murmur, and ultrasound showed severe obstructive and asymmetric septal hypertrophic cardiomyopathy. Dietary management resulted in clinical improvement. Friguls et al. (2009) emphasized the early onset of severe cardiac disease in this patient. </p><p>Haghighi et al. (2016) compared the clinical features of 5 patients with genetically confirmed CGL1 and 5 with CGL2. All patients had generalized lipodystrophy and muscular hypertrophy, and most had hepatomegaly and splenomegaly. Additional features were found in both groups, but tended to be more frequent in patients with CGL2 than in those with CGL1; these features included acromegaloid appearance, large ears, triangular facies, acanthosis nigricans, increased insulin levels, elevated liver enzymes, hernias, and cardiomyopathy. Genital abnormalities and hypertriglyceridemia were found equally in both groups. Two CGL1 patients and 1 CLG2 patient had nephrolithiasis. Only 1 CGL1 patient had bone cysts, and only CGL2 patients had intellectual disability, hypertrichosis, and high-pitched voice. </p>
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<strong>Mapping</strong>
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<p>Using a genomewide scan of 9 BSCL families from 2 geographic clusters in Lebanon and Norway, Magre et al. (2001) identified a disease locus, designated BSCL2, within a 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13 (maximum multipoint lod score of 13.2). Five Lebanese families were homozygous for the same alleles at 9 contiguous markers within an interval spanned by markers D11S4076 to PYGM (608455), probably because of a founder effect. Among families clustered in the southwest region of Norway, Magre et al. (2001) found that affected family members were homozygous for 4 consecutive markers, D11S1765, D11S4076, CA10, and CA9, confirming a founder effect. Analysis of 20 additional BSCL families of various ethnic origins led to the identification of 11 families in which the disease cosegregated with the 11q13 locus; the remaining families provided confirmation of linkage to 9q34. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of congenital generalized lipodystrophy type 2 in the families reported by Magre et al. (2001) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In chromosome 11q13-linked families with congenital generalized lipodystrophy type 2, and in 3 isolated patients, Magre et al. (2001) identified mutations in the BSCL2 gene (606158.0001-606158.0012). Affected individuals were either homozygous for a specific mutation or compound heterozygous; all parents of unaffected sibs carried only 1 mutation. </p><p>Agarwal et al. (2002) pointed out that individuals with congenital generalized lipodystrophy type 2 who carry mutations in the BSCL2 gene tend to have mild mental retardation and cardiomyopathy, features not seen in families with congenital generalized lipodystrophy type 1 who have mutations in the AGPAT2 gene. Based on the high expression of seipin in brain and weak expression in adipocytes, Magre et al. (2001) suggested a primary defect in hypothalamic pituitary axis. Agarwal et al. (2002) suggested that different forms of congenital generalized lipodystrophy may be caused by disruption of different pathways. </p><p>Fu et al. (2004) screened for mutations in AGPAT2 and BSCL2 in 27 families with congenital generalized lipodystrophy. In 3 sibs with the features of congenital generalized lipodystrophy with cystic angiomatosis of long bones (a phenotype designated Brunzell syndrome) they identified a splice site mutation in AGPAT2 (603100.0002). Eighteen patients from 15 families from the same region of northeastern Brazil were homozygous for a frameshift mutation in BSCL2 (669insA; 606158.0006). Despite having the same mutation, the subjects had widely divergent clinical manifestations. The authors concluded that there did not appear to be any distinguishing clinical characteristics between subjects with congenital generalized lipodystrophy with AGPAT2 or BSCL2 mutations with the exception of mental retardation in carriers of BSCL2. </p><p>Ebihara et al. (2004) reported 4 Japanese patients with Berardinelli-Seip congenital generalized lipodystrophy. In 3 of them the same homozygous nonsense mutation in the BSCL2 gene was found (606158.0015); analysis of flanking microsatellite markers and single-nucleotide polymorphisms (SNPs) within the gene revealed common ancestry in which the mutation originated. No mutation in either the BSCL2 or the AGPAT2 (603100) gene was found in the fourth patient, whose phenotype was considered atypical of patients with mutation in either gene. The authors stated that this was the first report of gene and phenotype analysis of congenital generalized lipodystrophy in Japanese. </p>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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<p>Gedde-Dahl et al. (1996) stated that 5 of the 6 families studied by Seip and Trygstad (1996) came from adjacent rural 'municipalities' of southwestern Norway. Six patients from this area were born between 1951 and 1973, and none between 1974 and 1995. The absence of new cases might be explained by a decrease in the intraregion marriage rate and inbreeding. Genealogic investigation showed that the mutation must have occurred at least 400 years ago. The sixth family was clinically different and geographically sporadic from a Finnish-descent rural east Norwegian population. In general, males appeared to be less severely affected than females. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Agarwal, A. K., Arioglu, E., de Almeida, S., Akkoc, N., Taylor, S. I., Bowcock, A. M., Barnes, R. I., Garg, A.
<strong>AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.</strong>
Nature Genet. 31: 21-23, 2002.
[PubMed: 11967537]
[Full Text: https://doi.org/10.1038/ng880]
</p>
</li>
<li>
<p class="mim-text-font">
Ebihara, K., Kusakabe, T., Masuzaki, H., Kobayashi, N., Tanaka, T., Chusho, H., Miyanaga, F., Miyazawa, T., Hayashi, T., Hosoda, K., Ogawa, Y., Nakao, K.
<strong>Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.</strong>
J. Clin. Endocr. Metab. 89: 2360-2364, 2004.
[PubMed: 15126564]
[Full Text: https://doi.org/10.1210/jc.2003-031211]
</p>
</li>
<li>
<p class="mim-text-font">
Friguls, B., Coroleu, W., del Alcazar, R., Hilbert, P., Van Maldergem, L., Pintos-Morell, G.
<strong>Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.</strong>
Europ. J. Med. Genet. 52: 14-16, 2009. Note: Erratum: Europ. J. Med. Genet. 52: 278-279, 2009.
[PubMed: 19041432]
[Full Text: https://doi.org/10.1016/j.ejmg.2008.10.006]
</p>
</li>
<li>
<p class="mim-text-font">
Fu, M., Kazlauskaite, R., de Fatima Paiva Baracho, M., Do Nascimento Santos, M. G., Brandao-Neto, J., Villares, S., Celi, F. S., Wajchenberg, B. L., Shuldiner, A. R.
<strong>Mutations in Gng31g and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.</strong>
J. Clin. Endocr. Metab. 89: 2916-2922, 2004.
[PubMed: 15181077]
[Full Text: https://doi.org/10.1210/jc.2003-030485]
</p>
</li>
<li>
<p class="mim-text-font">
Garg, A.
<strong>Acquired and inherited lipodystrophies.</strong>
New Eng. J. Med. 350: 1220-1234, 2004.
[PubMed: 15028826]
[Full Text: https://doi.org/10.1056/NEJMra025261]
</p>
</li>
<li>
<p class="mim-text-font">
Gedde-Dahl, T., Jr., Trygstad, O., Van Maldergem, L., Magre, J., van der Hagen, C. B., Olaisen, B., Stenersen, M., Mevag, B., Berardinelli-Seip Study Group.
<strong>Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping.</strong>
Acta Paediat. Suppl. 413: 52-58, 1996.
[PubMed: 8783773]
[Full Text: https://doi.org/10.1111/j.1651-2227.1996.tb14266.x]
</p>
</li>
<li>
<p class="mim-text-font">
Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D. C., Bakhti, H., Garg, A., Hilbert, P.
<strong>Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.</strong>
Clin. Genet. 89: 434-441, 2016.
[PubMed: 26072926]
[Full Text: https://doi.org/10.1111/cge.12623]
</p>
</li>
<li>
<p class="mim-text-font">
Magre, J., Delepine, M., Khallouf, E., Gedde-Dahl, T., Jr., Van Maldergem, L., Sobel, E., Papp, J., Meier, M., Megarbane, A., BSCL Working Group, Lathrop, M., Capeau, J.
<strong>Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.</strong>
Nature Genet. 28: 365-370, 2001.
[PubMed: 11479539]
[Full Text: https://doi.org/10.1038/ng585]
</p>
</li>
<li>
<p class="mim-text-font">
Seip, M., Trygstad, O.
<strong>Generalized lipodystrophy, congenital and acquired (lipoatrophy).</strong>
Acta Paediat. Suppl. 413: 2-28, 1996.
[PubMed: 8783769]
[Full Text: https://doi.org/10.1111/j.1651-2227.1996.tb14262.x]
</p>
</li>
<li>
<p class="mim-text-font">
Simha, V., Garg, A.
<strong>Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes.</strong>
J. Clin. Endocr. Metab. 88: 5433-5437, 2003.
[PubMed: 14602785]
[Full Text: https://doi.org/10.1210/jc.2003-030835]
</p>
</li>
<li>
<p class="mim-text-font">
Van Maldergem, L., Magre, J., Khallouf, T. E., Gedde-Dahl, T., Jr., Delepine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C. S., Bonnici, F., Panz, V. R., Medina, J.-L., and 19 others.
<strong>Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.</strong>
J. Med. Genet. 39: 722-733, 2002. Note: Erratum: J. Med. Genet. 40: 150 only, 2003.
[PubMed: 12362029]
[Full Text: https://doi.org/10.1136/jmg.39.10.722]
</p>
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Cassandra L. Kniffin - updated : 5/23/2016<br>Cassandra L. Kniffin - updated : 3/29/2010<br>Cassandra L. Kniffin - updated : 6/9/2009<br>Cassandra L. Kniffin - updated : 3/4/2009<br>John A. Phillips, III - updated : 12/17/2007<br>John A. Phillips, III - updated : 11/14/2006<br>John A. Phillips, III - updated : 4/5/2006<br>Anne M. Stumpf - updated : 7/21/2005<br>John A. Phillips, III - updated : 1/10/2005<br>Cassandra L. Kniffin - updated : 10/22/2004<br>Victor A. McKusick - updated : 7/2/2002<br>Victor A. McKusick - updated : 4/30/2002<br>John A. Phillips, III - updated : 3/20/2000<br>Ada Hamosh - updated : 9/3/1999<br>Victor A. McKusick - updated : 6/26/1997
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