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Entry
- #151660 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
- OMIM
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<span class="h4">#151660</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/151660"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS151660"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=LIPODYSTROPHY, FAMILIAL PARTIAL, 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="http://www.informatics.jax.org/disease/151660" 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:0070202" 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>
</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>SNOMEDCT:</strong> 715439000<br />
<strong>ORPHA:</strong> 2348<br />
<strong>DO:</strong> 0070202<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>
151660
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
</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">
FPL2<br />
LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE<br />
LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK<br />
LIPODYSTROPHY, REVERSE PARTIAL<br />
LIPOATROPHIC DIABETES
</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/1/1240?start=-3&limit=10&highlight=1240">
1q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Lipodystrophy, familial partial, type 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151660"> 151660 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
LMNA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/151660" 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/PS151660" 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/151660" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/151660" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</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">
- Normal or increased facial adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837777</a>]</span><br /> -
Round, full face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal or increased adipose tissue around the neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837778</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> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent superficial veins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001015</a>]</span><br /> -
Atherosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/107671003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">107671003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72092001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72092001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28960008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28960008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38716007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38716007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">440</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004153</a>, <a href="https://bioportal.bioontology.org/search?q=C0003850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002635</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002634</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002621</a>]</span><br /> -
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</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> 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 />
</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 in some <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835382</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>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Labial pseudohypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008739</a>]</span><br /> -
Polycystic ovary disease (uncommon) <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 />
</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">
- Prominent superficial veins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001015</a>]</span><br /> -
Xanthomata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75594004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75594004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63103006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63103006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043325</a>, <a href="https://bioportal.bioontology.org/search?q=C0302314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302314</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000991" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000991</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000991" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000991</a>]</span><br /> -
Acanthosis nigricans (uncommon) <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 (uncommon) <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">
- Partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835383</a>]</span><br /> -
Loss of subcutaneous truncal adipose tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009002</a>]</span><br /> -
Loss of subcutaneous adipose tissue in limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003635</a>]</span><br /> -
Loss of adipose tissue occurs around puberty <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835385</a>]</span><br /> -
No lipodystrophy in face and neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675076</a>]</span><br /> -
Muscular appearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835387</a>]</span><br /> -
Muscular hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249829006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249829006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236033</a>, <a href="https://bioportal.bioontology.org/search?q=C2265792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2265792</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span><br /> -
Myalgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
Increased intramuscular fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835389</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008985</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008985</a>]</span><br /> -
Increased intraabdominal fat <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835390</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008993</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008993</a>]</span><br /> -
Skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675077</a>]</span><br /> -
Nonspecific myopathic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810466</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> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nerve compression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84116009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84116009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0273482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0273482</a>]</span><br /> -
Nerve entrapment syndromes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45781009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45781009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1510429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1510429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012181</a>]</span><br /> -
Enlarged peripheral nerves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012645</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012645" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012645</a>]</span><br /> -
Tomaculae (paranodal myelin swellings) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675075</a>]</span><br />
</span>
</div>
</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 (onset around puberty) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835379</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000831" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000831</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">
- Hyperglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444780001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444780001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237598005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80394007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80394007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2919432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2919432</a>, <a href="https://bioportal.bioontology.org/search?q=C0020456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003074</a>]</span><br /> -
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 /> -
Increased serum triglycerides <span class="mim-feature-ids hidden">[SNOMEDCT: <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=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 HDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset of clinical features around puberty<br />
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<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
- Caused by mutation in the lamin A/C gene (LMNA, <a href="/entry/150330#0003">150330.0003</a>)<br />
</span>
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<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<h5>
Lipodystrophy, familial partial
- <a href="/phenotypicSeries/PS151660">PS151660</a>
- 8 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">
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<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
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<td>
<span class="mim-font">
<a href="/entry/151660"> Lipodystrophy, familial partial, type 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
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<td>
<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/151660"> 151660 </a>
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<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
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<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
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<span class="mim-font">
<a href="/geneMap/3/41?start=-3&limit=10&highlight=41"> 3p25.3 </a>
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<td>
<span class="mim-font">
<a href="/entry/615238"> ?Lipodystrophy, familial partial, type 5 </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>
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<span class="mim-font">
<a href="/entry/615238"> 615238 </a>
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<span class="mim-font">
<a href="/entry/612120"> CIDEC </a>
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<span class="mim-font">
<a href="/entry/612120"> 612120 </a>
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</td>
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<td>
<span class="mim-font">
<a href="/geneMap/3/67?start=-3&limit=10&highlight=67"> 3p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604367"> Lipodystrophy, familial partial, type 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/604367"> 604367 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601487"> PPARG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601487"> 601487 </a>
</span>
</td>
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<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/603?start=-3&limit=10&highlight=603"> 7q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606721"> Lipodystrophy, familial partial, type 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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>
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<span class="mim-font">
<a href="/entry/606721"> 606721 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/601047"> CAV1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601047"> 601047 </a>
</span>
</td>
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<td>
<span class="mim-font">
<a href="/geneMap/10/564?start=-3&limit=10&highlight=564"> 10q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620679"> ?Lipodystrophy, familial partial, type 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/620679"> 620679 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104210"> ADRA2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104210"> 104210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/504?start=-3&limit=10&highlight=504"> 15q26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613877"> Lipodystrophy, familial partial, type 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
<a href="/entry/613877"> 613877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170290"> PLIN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170290"> 170290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/756?start=-3&limit=10&highlight=756"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615980"> Lipodystrophy, familial partial, type 6 </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">
<a href="/entry/615980"> 615980 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151750"> LIPE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151750"> 151750 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
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</td>
<td>
<span class="mim-font">
<a href="/entry/608600"> Lipodystrophy, familial partial, type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608600"> 608600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608600"> FPLD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608600"> 608600 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<p>A number sign (#) is used with this entry because of evidence that familial partial lipodystrophy type 2 (FPLD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; <a href="/entry/150330">150330</a>) on chromosome 1q21.</p>
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<strong>Description</strong>
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<p>Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by <a href="#11" 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>The disorder may be misdiagnosed as Cushing disease (see <a href="/entry/219080">219080</a>) (<a href="#16" class="mim-tip-reference" title="Kobberling, J., Dunnigan, M. G. &lt;strong&gt;Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.&lt;/strong&gt; J. Med. Genet. 23: 120-127, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3712389/&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;3712389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.23.2.120&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="3712389">Kobberling and Dunnigan, 1986</a>; <a href="#11" 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/?term=15028826+3712389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Familial Partial Lipodystrophy</em></strong></p><p>
Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; <a href="/entry/608600">608600</a>), characterized by loss of subcutaneous fat confined to the limbs (<a href="#17" class="mim-tip-reference" title="Kobberling, J., Willms, B., Kattermann, R., Creutzfeldt, W. &lt;strong&gt;Lipodystrophy of the extremities: a dominantly inherited syndrome associated with lipoatrophic diabetes.&lt;/strong&gt; Humangenetik 29: 111-120, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/170190/&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;170190&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00430347&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="170190">Kobberling et al., 1975</a>), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (<a href="#7" class="mim-tip-reference" title="Dunnigan, M. G., Cochrane, M., Kelly, A., Scott, J. W. &lt;strong&gt;Familial lipoatrophic diabetes with dominant transmission: a new syndrome.&lt;/strong&gt; Quart. J. Med. 43: 33-48, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4362786/&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;4362786&lt;/a&gt;]" pmid="4362786">Dunnigan et al., 1974</a>; <a href="#16" class="mim-tip-reference" title="Kobberling, J., Dunnigan, M. G. &lt;strong&gt;Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.&lt;/strong&gt; J. Med. Genet. 23: 120-127, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3712389/&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;3712389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.23.2.120&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="3712389">Kobberling and Dunnigan, 1986</a>). No genetic basis for FPLD1 has yet been delineated. FPLD3 (<a href="/entry/604367">604367</a>) is caused by mutation in the PPARG gene (<a href="/entry/601487">601487</a>) on chromosome 3p25; FPLD4 (<a href="/entry/613877">613877</a>) is caused by mutation in the PLIN1 gene (<a href="/entry/170290">170290</a>) on chromosome 15q26; FPLD5 (<a href="/entry/615238">615238</a>) is caused by mutation in the CIDEC gene (<a href="/entry/612120">612120</a>) on chromosome 3p25; FPLD6 (<a href="/entry/615980">615980</a>) is caused by mutation in the LIPE gene (<a href="/entry/151750">151750</a>) on chromosome 19q13; FPLD7 (<a href="/entry/606721">606721</a>) is caused by mutation in the CAV1 gene (<a href="/entry/601047">601047</a>) on chromosome 7q31; FPLD8 (<a href="/entry/620679">620679</a>), caused by mutation in the ADRA2A gene (<a href="/entry/104210">104210</a>) on chromosome 10q25; and FPLD9 (<a href="/entry/620683">620683</a>), caused by mutation in the PLAAT3 gene (<a href="/entry/613867">613867</a>) on chromosome 11q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3712389+4362786+170190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Dunnigan, M. G., Cochrane, M., Kelly, A., Scott, J. W. &lt;strong&gt;Familial lipoatrophic diabetes with dominant transmission: a new syndrome.&lt;/strong&gt; Quart. J. Med. 43: 33-48, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4362786/&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;4362786&lt;/a&gt;]" pmid="4362786">Dunnigan et al. (1974)</a> described an autosomal dominant disorder in 2 families from the same region of northern Scotland. Features were symmetric lipoatrophy of the trunk and limbs with rounded, full face, tuberoeruptive xanthomata, acanthosis nigricans, and insulin-resistant hyperinsulinism. In 1 family, 6 females, 3 of whom were personally examined by the authors, were affected in 4 generations. In the other family, which was probably related to the first, 6 females in 3 generations were affected. This syndrome is distinct from congenital generalized lipodystrophy (see <a href="/entry/608594">608594</a>), from progressive partial lipodystrophy (see <a href="/entry/613779">613779</a>), which is a sporadic disorder associated with decreased levels of complement component C3, and from the acquired generalized lipodystrophy described by <a href="#19" class="mim-tip-reference" title="Lawrence, R. D. &lt;strong&gt;Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances: a case throwing new light on the action of insulin.&lt;/strong&gt; Lancet 247: 724-731 and 773-775, 1946. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20982387/&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;20982387&lt;/a&gt;]" pmid="20982387">Lawrence (1946)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20982387+4362786" 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="#12" class="mim-tip-reference" title="Greene, M. L., Glueck, C. J., Fujimoto, W. Y., Seegmiller, J. E. &lt;strong&gt;Benign symmetric lipomatosis (Launosis-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.&lt;/strong&gt; Am. J. Med. 48: 239-246, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5416265/&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;5416265&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(70)90120-8&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="5416265">Greene et al. (1970)</a> and <a href="#20" class="mim-tip-reference" title="Ozer, F. L., Lichtenstein, J. R., Kwiterovich, P. O., Jr., McKusick, V. A. &lt;strong&gt;New genetic variety of lipodystrophy. (Abstract)&lt;/strong&gt; Clin. Res. 21: 533 only, 1973."None>Ozer et al. (1973)</a> described a condition of fat accumulation around the neck, shoulders, upper back, and genitalia associated with lean muscular limbs, phlebectasia, insulin resistance, hyperglycemia, and type IV hyperlipoproteinemia. Affected members in the family of <a href="#12" class="mim-tip-reference" title="Greene, M. L., Glueck, C. J., Fujimoto, W. Y., Seegmiller, J. E. &lt;strong&gt;Benign symmetric lipomatosis (Launosis-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.&lt;/strong&gt; Am. J. Med. 48: 239-246, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5416265/&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;5416265&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(70)90120-8&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="5416265">Greene et al. (1970)</a> also had hyperuricemia. Successive generations were affected, but only females appeared to have the full-blown disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416265" 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="#6" class="mim-tip-reference" title="Davidson, M. B., Young, R. T. &lt;strong&gt;Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.&lt;/strong&gt; Diabetologia 11: 561-568, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1205025/&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;1205025&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01222107&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="1205025">Davidson and Young (1975)</a> reported a family with familial partial lipodystrophy characterized by absence of subcutaneous fat from the limbs and lower trunk with sparing of the face and upper trunk. Although lipodystrophy was not seen in males, 5 males were diabetic. The authors suggested X-linked dominant inheritance of the disorder. See also the pedigree analysis of <a href="#32" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. &lt;strong&gt;X-linked dominant inherited diseases with lethality in hemizygous males.&lt;/strong&gt; Hum. Genet. 64: 1-23, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6873941/&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;6873941&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00289472&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="6873941">Wettke-Schafer and Kantner (1983)</a>, who discussed the possibility of X-linked dominant inheritance with lethality in hemizygous males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6873941+1205025" 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="Burn, J., Baraitser, M. &lt;strong&gt;Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).&lt;/strong&gt; J. Med. Genet. 23: 128-130, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3519971/&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;3519971&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.23.2.128&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="3519971">Burn and Baraitser (1986)</a> reported a family in which 5 members, including 1 male, were affected with familial partial lipodystrophy in an autosomal dominant pattern of inheritance. Clinical features included lipoatrophy of the limbs and trunk, with sparing of the face and neck. Affected members had muscular definition with variable muscular hypertrophy and prominent peripheral veins. Acanthosis nigricans and xanthomata were present. Laboratory studies showed hyperinsulinemia, hyperlipidemia, and insulin resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3519971" 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="#22" class="mim-tip-reference" title="Reardon, W., Temple, I. K., Mackinnon, H., Leonard, J. V., Baraitser, M. &lt;strong&gt;Partial lipodystrophy syndromes--a further male case.&lt;/strong&gt; Clin. Genet. 38: 391-395, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2282720/&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;2282720&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03602.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="2282720">Reardon et al. (1990)</a> described partial lipodystrophy in a 2-year-old boy. There was complete absence of fat on the body and limbs, but the face and feet were spared and the hands were puffy. Classification of the case was considered difficult, but the distribution of loss of subcutaneous fat corresponded to that of FPLD type 2 (Dunnigan type) described in adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2282720" 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>To investigate whether there is a unique pattern of fat distribution in men and women with FPLD, <a href="#8" class="mim-tip-reference" title="Garg, A., Peshock, R. M., Fleckenstein, J. L. &lt;strong&gt;Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).&lt;/strong&gt; J. Clin. Endocr. Metab. 84: 170-174, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9920078/&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;9920078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.84.1.5383&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="9920078">Garg et al. (1999)</a> performed whole-body magnetic resonance imaging (MRI) in 1 male and 3 female patients from 2 pedigrees. MRI studies confirmed the clinical findings of near-total absence of subcutaneous fat from all extremities. Reduction in subcutaneous adipose tissue from the truncal area was more prominent anteriorly than posteriorly. Increased fat stores were observed in the neck and face. The authors concluded that FPLD results in a characteristic absence of subcutaneous fat from the extremities, with preservation of intermuscular fat stores. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9920078" 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>The clinical features in families studied by <a href="#15" class="mim-tip-reference" title="Jackson, S. N. J., Pinkney, J., Bargiotta, A., Veal, C. D., Howlett, T. A., McNally, P. G., Corral, R., Johnson, A., Trembath, R. C. &lt;strong&gt;A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.&lt;/strong&gt; Am. J. Hum. Genet. 63: 534-540, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683602/&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;9683602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301971&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="9683602">Jackson et al. (1998)</a> included a dramatic absence of adipose tissue in the limbs and trunk, more evident in females than in males, with fat retained on the face, in the retroorbital space, and at periserous sites. <a href="#15" class="mim-tip-reference" title="Jackson, S. N. J., Pinkney, J., Bargiotta, A., Veal, C. D., Howlett, T. A., McNally, P. G., Corral, R., Johnson, A., Trembath, R. C. &lt;strong&gt;A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.&lt;/strong&gt; Am. J. Hum. Genet. 63: 534-540, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683602/&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;9683602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301971&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="9683602">Jackson et al. (1998)</a> noted that a syndrome with similar metabolic abnormalities, including insulin resistance, hyperinsulinemia, and dyslipidemia, has been referred to as 'metabolic syndrome X' (<a href="#23" class="mim-tip-reference" title="Reaven, G. M. &lt;strong&gt;Role of insulin resistance in human disease.&lt;/strong&gt; Diabetes 37: 1595-1607, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3056758/&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;3056758&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2337/diab.37.12.1595&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="3056758">Reaven, 1988</a>); see <a href="/entry/605552">605552</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3056758+9683602" 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="Garg, A. &lt;strong&gt;Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).&lt;/strong&gt; J. Clin. Endocr. Metab. 85: 1776-1782, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10843151/&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;10843151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.85.5.6605&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="10843151">Garg (2000)</a> compared the anthropometric variables and prevalence of diabetes mellitus, dyslipidemia, hypertension, and atherosclerotic vascular disease among 17 postpubertal males and 22 females with FPLD from 8 pedigrees. All individuals completed a questionnaire, and fasting blood was analyzed for glucose, insulin, and lipoprotein concentrations. Both affected men and women had similar patterns of fat loss. Compared with the affected men, women had a higher prevalence of diabetes (18% and 50%, respectively; P = 0.05) and atherosclerotic vascular disease (12% and 45%, respectively; P = 0.04), and had higher serum triglycerides (median values, 2.27 and 4.25 mmol/L, respectively; P = 0.02) and lower HDL cholesterol concentrations (age-adjusted means, 0.94 and 0.70 mmol/L, respectively; P = 0.04). The prevalence of both hypertension and fasting serum insulin concentrations were similar. <a href="#10" class="mim-tip-reference" title="Garg, A. &lt;strong&gt;Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).&lt;/strong&gt; J. Clin. Endocr. Metab. 85: 1776-1782, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10843151/&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;10843151&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.85.5.6605&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="10843151">Garg (2000)</a> concluded that females with FPLD are more severely affected with metabolic complications of insulin resistance than are males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10843151" 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>The common insulin resistance syndrome of obesity, dyslipidemia, hyperglycemia, and hypertension has a well-recognized association with atherosclerosis. <a href="#13" class="mim-tip-reference" title="Hegele, R. A. &lt;strong&gt;Premature atherosclerosis associated with monogenic insulin resistance.&lt;/strong&gt; Circulation 103: 2225-2229, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11342468/&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;11342468&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.103.18.2225&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="11342468">Hegele (2001)</a> studied the prevalence of coronary artery disease in a group of individuals with Dunnigan-type familial partial lipodystrophy, all of whom had mutations in the LMNA gene. All individuals had insulin resistance, with significantly more type II diabetes mellitus, hypertension, and dyslipidemia than in normal family control subjects. Eight of 23 individuals (35%) had identifiable endpoints of coronary artery disease (angina pectoris, myocardial infarction, or coronary artery bypass surgery); 1 of these individuals had also developed occlusive peripheral vascular disease. Only 1 control individual had coronary artery disease. <a href="#13" class="mim-tip-reference" title="Hegele, R. A. &lt;strong&gt;Premature atherosclerosis associated with monogenic insulin resistance.&lt;/strong&gt; Circulation 103: 2225-2229, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11342468/&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;11342468&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.103.18.2225&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="11342468">Hegele (2001)</a> concluded that Dunnigan-type familial partial lipodystrophy represents a single-gene model for the more common insulin resistance syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11342468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouilleres, O., Cohen, A., Courvalin, J.-C., Laroche, L., Capeau, J., Vigouroux, C., Christin-Maitre, S. &lt;strong&gt;A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 1006-1013, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12629077/&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;12629077&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021506&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="12629077">Caux et al. (2003)</a> reported a 27-year-old man with generalized lipodystrophy, hepatic steatosis, insulin-resistant diabetes, hypertrophic cardiomyopathy, and leukomelanodermic papules. He had been diagnosed with hepatic steatosis at the age of 21 years, hypertriglyceridemia at 22 years, and diabetes at 25 years. The patient's appearance included square jaw, thin lips, high forehead, marked thinning of the eyebrows, pectus excavatum, and narrow shoulders. Generalized atrophy of subcutaneous fat resulted in sunken cheeks and muscular pseudohypertrophy of the 4 limbs. Multiple whitish papules on pigmented skin were present on the neck, trunk, and upper limbs and to a lesser extent on the lower limbs. The patient mentioned that his subcutaneous body fat progressively disappeared from the age of 14 years, after the onset of puberty. The development of the skin lesions occurred simultaneously. No acanthosis nigricans was present. Gray hair had been present since the age of 17 years. Muscular strength was normal, and no neurologic defects were detected. Cardiac involvement included concentric hypertrophy of the left ventricle without cavity dilatation, associated with thickened and regurgitant valves, aortic fibrotic nodules, and calcification of the posterior annulus. Doppler echocardiographic findings were similar to those described in aged patients. Abdominal MRI revealed an absence of body fat at both the subcutaneous and visceral levels. Osteopoikilosis, acroosteolysis, hypoplastic clavicles, wide sutures, and mandibular hypoplasia, previously described in mandibuloacral dysplasia (MAD; <a href="/entry/248370">248370</a>), were not identified by bone x-rays. Typical symptoms of Werner syndrome (<a href="/entry/277700">277700</a>), such as cataracts, short stature, and skeletal anomalies, were absent. Family members were unaffected, and no consanguinity was reported. Genetic analysis identified a heterozygous mutation in the LMNA gene (R133L; <a href="/entry/150330#0027">150330.0027</a>). <a href="#31" class="mim-tip-reference" title="Vigouroux, C., Caux, F. Capeau, J., Christin-Maitre, S., Cohen, A. &lt;strong&gt;LMNA mutations in atypical Werner&#x27;s syndrome. (Letter)&lt;/strong&gt; Lancet 362: 1585 only, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14615128/&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;14615128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0140-6736(03)14760-5&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="14615128">Vigouroux et al. (2003)</a> emphasized that a striking feature in the patient reported by <a href="#5" class="mim-tip-reference" title="Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouilleres, O., Cohen, A., Courvalin, J.-C., Laroche, L., Capeau, J., Vigouroux, C., Christin-Maitre, S. &lt;strong&gt;A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.&lt;/strong&gt; J. Clin. Endocr. Metab. 88: 1006-1013, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12629077/&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;12629077&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2002-021506&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="12629077">Caux et al. (2003)</a> was muscular hypertrophy of the limbs, which contrasts with the muscular atrophy usually present in Werner syndrome. Muscular hypertrophy, along with insulin-resistant diabetes and hypertriglyceridemia, is more often associated with LMNA-linked Dunnigan lipodystrophy. Fibroblasts from this patient showed nuclear abnormalities identical to those described in Dunnigan lipodystrophy (<a href="#30" class="mim-tip-reference" title="Vigouroux, C., Auclair, M., Dubosclard, E., Pouchelet, M., Capeau, J., Courvalin, J. C., Buendia, B. &lt;strong&gt;Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.&lt;/strong&gt; J. Cell Sci. 114: 4459-4468, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11792811/&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;11792811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1242/jcs.114.24.4459&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="11792811">Vigouroux et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12629077+11792811+14615128" 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="#28" class="mim-tip-reference" title="Spuler, S., Kalbhenn, T., Zabojszcza, J., van Landeghem, F. K. H., Ludtke, A., Wenzel, K., Koehnlein, M., Schuelke, M., Ludemann, L., Schmidt, H. H. &lt;strong&gt;Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.&lt;/strong&gt; Neurology 68: 677-683, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17325275/&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;17325275&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000255939.73424.f8&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="17325275">Spuler et al. (2007)</a> reported 13 FPLD2 patients with neuromuscular involvement. Twelve had muscle hypertrophy, 9 had severe myalgias, and 8 had multiple nerve entrapment syndromes. Skeletal muscle biopsies showed marked hypertrophy of type 1 and type 2 muscle fibers and nonspecific myopathic changes. Sural nerve biopsies showed numerous paranodal myelin swellings, or tomacula. Skeletal muscle myostatin (MSTN; <a href="/entry/601788">601788</a>) mRNA was decreased in patients compared to controls, but no MSTN gene mutations were detected. FPLD2 muscle specimens had a large number of SMAD (see, e.g., <a href="/entry/601595">601595</a>) molecules adhered to the nuclear membrane and not found within the nucleus, compared to normal muscle or muscle from a patient with a non-FPLD LMNA disease. <a href="#28" class="mim-tip-reference" title="Spuler, S., Kalbhenn, T., Zabojszcza, J., van Landeghem, F. K. H., Ludtke, A., Wenzel, K., Koehnlein, M., Schuelke, M., Ludemann, L., Schmidt, H. H. &lt;strong&gt;Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.&lt;/strong&gt; Neurology 68: 677-683, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17325275/&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;17325275&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000255939.73424.f8&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="17325275">Spuler et al. (2007)</a> concluded that neuromuscular features of FPLD2 may result from disrupted SMAD-MSTN signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325275" 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="#29" class="mim-tip-reference" title="Vantyghem, M. C., Vincent-Desplanques, D., Defrance-Faivre, F., Capeau, J., Fermon, C., Valat, A. S., Lascols, O., Hecart, A. C., Pigny, P., Delemer, B., Vigouroux, C., Wemeau, J. L. &lt;strong&gt;Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 2223-2229, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18364375/&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;18364375&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-2521&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="18364375">Vantyghem et al. (2008)</a> compared the fertility and occurrence of obstetric complications of women with familial partial lipodystrophy due to LMNA mutations with those of unaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS). Data were obtained from clinical follow-up of 7 families with patients exhibiting mutations in LMNA (14 affected among 48 women). The mean number of live children per woman was 1.7 in affected patients versus 2.8 in nonaffected relatives. Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes, and 14% experienced eclampsia and fetal death. <a href="#29" class="mim-tip-reference" title="Vantyghem, M. C., Vincent-Desplanques, D., Defrance-Faivre, F., Capeau, J., Fermon, C., Valat, A. S., Lascols, O., Hecart, A. C., Pigny, P., Delemer, B., Vigouroux, C., Wemeau, J. L. &lt;strong&gt;Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.&lt;/strong&gt; J. Clin. Endocr. Metab. 93: 2223-2229, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18364375/&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;18364375&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2007-2521&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="18364375">Vantyghem et al. (2008)</a> concluded that in these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecologic and obstetric care. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18364375" 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>Although X-linked dominant inheritance had been suggested, affected pedigrees reported by <a href="#24" class="mim-tip-reference" title="Robbins, D. C., Horton, E. S., Tulp, O., Sims, E. A. H. &lt;strong&gt;Familial partial lipodystrophy: complications of obesity in the non-obese?&lt;/strong&gt; Metabolism 31: 445-452, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7043176/&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;7043176&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0026-0495(82)90232-3&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="7043176">Robbins et al. (1982)</a>, <a href="#14" class="mim-tip-reference" title="Jackson, S. N., Howlett, T. A., McNally, P. G., O&#x27;Rahilly, S., Trembath, R. C. &lt;strong&gt;Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.&lt;/strong&gt; Quart. J. Med. 90: 27-36, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9093586/&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;9093586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/qjmed/90.1.27&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="9093586">Jackson et al. (1997)</a>, and <a href="#21" class="mim-tip-reference" title="Peters, J. M., Barnes, R., Bennett, L., Gitomer, W. M., Bowcock, A. M., Garg, A. &lt;strong&gt;Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.&lt;/strong&gt; Nature Genet. 18: 292-295, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9500556/&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;9500556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0398-292&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="9500556">Peters et al. (1998)</a> showed clear autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9093586+7043176+9500556" 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="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p>In a genomewide scan using highly polymorphic short tandem repeats (STRs) in individuals from 5 well-characterized FPLD pedigrees, <a href="#21" class="mim-tip-reference" title="Peters, J. M., Barnes, R., Bennett, L., Gitomer, W. M., Bowcock, A. M., Garg, A. &lt;strong&gt;Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.&lt;/strong&gt; Nature Genet. 18: 292-295, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9500556/&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;9500556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0398-292&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="9500556">Peters et al. (1998)</a> mapped the disease locus to 1q21-q22. The maximum 2-point lod score obtained with a highly polymorphic microsatellite at D1S2624 at theta (max) = 0.0 was 5.84. Multipoint linkage analysis yielded a peak lod score of 8.25 between D1S305 and D1S1600. There was no evidence for genetic heterogeneity in these pedigrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500556" 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="Anderson, J. L., Khan, M., David, W. S., Mahdavi, Z., Nuttall, F. Q., Krech, E., West, S. G., Vance, J. M., Pericak-Vance, M. A., Nance, M. A. &lt;strong&gt;Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.&lt;/strong&gt; Am. J. Med. Genet. 82: 161-165, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9934982/&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;9934982&lt;/a&gt;]" pmid="9934982">Anderson et al. (1999)</a> performed linkage and haplotype analysis with highly polymorphic microsatellite markers on a large, multigenerational Caucasian kindred of German ancestry with the Dunnigan form of familial partial lipodystrophy. The family showed affected members through at least 4 generations. The results yielded a maximum 2-point lod score of 4.96 at theta = 0 for marker D1S2721 and a maximum multipoint lod score of 6.27 near the same marker. The results of the haplotype analysis supported the minimal candidate region reported by <a href="#21" class="mim-tip-reference" title="Peters, J. M., Barnes, R., Bennett, L., Gitomer, W. M., Bowcock, A. M., Garg, A. &lt;strong&gt;Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.&lt;/strong&gt; Nature Genet. 18: 292-295, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9500556/&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;9500556&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0398-292&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="9500556">Peters et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9934982+9500556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Jackson, S. N. J., Pinkney, J., Bargiotta, A., Veal, C. D., Howlett, T. A., McNally, P. G., Corral, R., Johnson, A., Trembath, R. C. &lt;strong&gt;A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.&lt;/strong&gt; Am. J. Hum. Genet. 63: 534-540, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9683602/&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;9683602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301971&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="9683602">Jackson et al. (1998)</a> ascertained 2 multigenerational families, with a combined total of 18 individuals with partial lipodystrophy. A genomewide linkage search using microsatellite markers provided conclusive evidence of linkage to 1q21 (D1S498, maximum lod score = 6.89 at theta = 0.00), with no evidence of heterogeneity. Haplotype and multipoint analysis supported the location of the locus (which they symbolized PLD, for partial lipodystrophy) within a 21.2-cM chromosomal region flanked by markers D1S2881 and D1S484. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683602" 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 5 Canadian FPLD families, <a href="#4" class="mim-tip-reference" title="Cao, H., Hegele, R. A. &lt;strong&gt;Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.&lt;/strong&gt; Hum. Molec. Genet. 9: 109-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10587585/&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;10587585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.1.109&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="10587585">Cao and Hegele (2000)</a> identified heterozygosity for a mutation in the lamin A/C gene (R482Q; <a href="/entry/150330#0010">150330.0010</a>). There were no differences in age, gender, or body mass index in Q482/R482 heterozygotes compared with R482/R482 homozygotes (normals) from these families; however, there were significantly more Q482/R482 heterozygotes who had definite partial lipodystrophy and frank diabetes. Also compared with the normal homozygotes, heterozygotes had significantly higher serum insulin and C-peptide (see <a href="/entry/176730">176730</a>) levels. The LMNA heterozygotes with diabetes were significantly older than heterozygotes without diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10587585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 families and 3 isolated cases of partial lipodystrophy, <a href="#26" class="mim-tip-reference" title="Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., Gregory, S., O&#x27;Rahilly, S., Trembath, R. C. &lt;strong&gt;LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.&lt;/strong&gt; Nature Genet. 24: 153-156, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10655060/&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;10655060&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/72807&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="10655060">Shackleton et al. (2000)</a> found heterozygosity for an R482W missense mutation in the LMNA gene (<a href="/entry/150330#0011">150330.0011</a>), in the same codon as the R482Q mutation found in Canadian families by <a href="#4" class="mim-tip-reference" title="Cao, H., Hegele, R. A. &lt;strong&gt;Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.&lt;/strong&gt; Hum. Molec. Genet. 9: 109-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10587585/&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;10587585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.1.109&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="10587585">Cao and Hegele (2000)</a>. <a href="#26" class="mim-tip-reference" title="Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., Gregory, S., O&#x27;Rahilly, S., Trembath, R. C. &lt;strong&gt;LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.&lt;/strong&gt; Nature Genet. 24: 153-156, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10655060/&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;10655060&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/72807&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="10655060">Shackleton et al. (2000)</a> identified a third mutation in that codon, R482L (<a href="/entry/150330#0012">150330.0012</a>), in another family with partial lipodystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10587585+10655060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., Bowcock, A. M. &lt;strong&gt;Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1192-1198, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 775 only, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739751/&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;10739751&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739751[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/10.1086/302836&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="10739751">Speckman et al. (2000)</a> analyzed the LMNA gene in 15 families with partial lipodystrophy and identified the R482Q mutation in 5, the R482W mutation in 7, and a G465D mutation (<a href="/entry/150330#0015">150330.0015</a>) in 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Schmidt, H. H.-J., Genschel, J., Baier, P., Schmidt, M., Ockenga, J., Tietge, U. J. F., Propsting, M., Buttner, C., Manns, M. P., Lochs, H., Brabant, G. &lt;strong&gt;Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.&lt;/strong&gt; J. Clin. Endocr. Metab. 86: 2289-2295, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11344241/&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;11344241&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.86.5.7500&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="11344241">Schmidt et al. (2001)</a> identified a family with partial lipodystrophy carrying the R482W missense mutation in the LMNA gene. Clinically, the loss of subcutaneous fat and muscular hypertrophy, especially of the lower extremities, started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. Characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11344241" 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="#18" class="mim-tip-reference" title="Lanktree, M., Cao, H., Rabkin, S. W., Hanna, A., Hegele, R. A. &lt;strong&gt;Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) (Letter)&lt;/strong&gt; Clin. Genet. 71: 183-186, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17250669/&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;17250669&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00740.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="17250669">Lanktree et al. (2007)</a> analyzed the LMNA gene in 3 unrelated patients with FPLD2 and identified heterozygosity for 3 different missense mutations, all affecting only the lamin A isoform and each changing a conserved residue. Two of the mutations, D230N (<a href="/entry/150330#0042">150330.0042</a>) and R399C (<a href="/entry/150330#0043">150330.0043</a>), were 5-prime to the nuclear localization signal, which is not typical of LMNA mutations in FPLD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17250669" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In a family with an atypical form of FPLD, <a href="#27" class="mim-tip-reference" title="Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., Bowcock, A. M. &lt;strong&gt;Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1192-1198, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 775 only, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739751/&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;10739751&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739751[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/10.1086/302836&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="10739751">Speckman et al. (2000)</a> identified an R582H mutation (<a href="/entry/150330#0016">150330.0016</a>) in the LMNA gene. In a follow-up of this same family, <a href="#9" class="mim-tip-reference" title="Garg, A., Vinaitheerthan, M., Weatherall, P. T., Bowcock, A. M. &lt;strong&gt;Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene.&lt;/strong&gt; J. Clin. Endocr. Metab. 86: 59-65, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11231979/&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;11231979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.86.1.7121&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="11231979">Garg et al. (2001)</a> reported that 2 affected sisters showed less severe loss of subcutaneous fat from the trunk and extremities with some retention of fat in the gluteal region and medial parts of the proximal thighs compared to women with typical FPLD2. Neither of the sisters with atypical FPLD2 had acanthosis nigricans or hirsutism, and only 1 had diabetes mellitus, borderline hypertriglyceridemia, and irregular menstrual periods. The sisters also tended to have lower serum triglycerides and higher HDL cholesterol concentrations compared to those with typical FPLD2. Both types had similar excess of fat deposition in the neck, face, intraabdominal, and intermuscular regions. Noting that the R582H mutation interrupts only the lamin A protein, <a href="#9" class="mim-tip-reference" title="Garg, A., Vinaitheerthan, M., Weatherall, P. T., Bowcock, A. M. &lt;strong&gt;Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene.&lt;/strong&gt; J. Clin. Endocr. Metab. 86: 59-65, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11231979/&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;11231979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.86.1.7121&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="11231979">Garg et al. (2001)</a> suggested that in typical FPLD2, interruption of both lamins A and C causes a more severe phenotype than that seen in atypical FPLD2, in which only lamin A is altered. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10739751+11231979" 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="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Pathogenesis</strong>
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<p><a href="#2" class="mim-tip-reference" title="Araujo-Vilar, D., Lattanzi, G., Gonzalez-Mendez, B., Costa-Freitas, A. T., Prieto, D., Columbaro, M., Mattioli, E., Victoria, B., Martinez-Sanchez, N., Ramazanova, A., Fraga, M., Beiras, A., Forteza, J., Dominguez-Gerpe, L., Calvo, C., Lado-Abeal, J. &lt;strong&gt;Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.&lt;/strong&gt; J. Med. Genet. 46: 40-48, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18805829/&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;18805829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.059485&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="18805829">Araujo-Vilar et al. (2009)</a> studied 7 patients from 1 kindred with FPLD2 caused by an R482W mutation in the LMNA gene (<a href="/entry/150330#0011">150330.0011</a>). Two had type 2 diabetes mellitus. As a group, the patients with FPLD2 were found to have significantly higher insulin resistance compared to 10 controls. The expression of LMNA in abdominal and peripheral adipose tissues was similar in both groups. In patients with FPLD2, thigh adipose tissue, but not abdomen adipose tissue, showed significantly decreased expression of PPARG2 (<a href="/entry/601487">601487</a>), RB1 (<a href="/entry/614041">614041</a>), cyclin D3 (CCND3; <a href="/entry/123834">123834</a>), and LPL (<a href="/entry/609708">609708</a>) (67%, 25%, 38%, and 66%, respectively) compared to controls. There was an accumulation of prelamin A in the nuclear envelope of peripheral adipose tissue of patients with FPLD2. Electron microscopic analysis of adipocytes of patients with FPLD2 showed defects in the peripheral heterochromatin and a nuclear fibrous dense lamina. Collectively, the findings indicated that transcriptional activity of several genes involved in adipogenesis is altered in affected tissues of patients with FPLD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805829" 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">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Anderson1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Anderson, J. L., Khan, M., David, W. S., Mahdavi, Z., Nuttall, F. Q., Krech, E., West, S. G., Vance, J. M., Pericak-Vance, M. A., Nance, M. A.
<strong>Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.</strong>
Am. J. Med. Genet. 82: 161-165, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9934982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9934982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9934982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Araujo-Vilar2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Araujo-Vilar, D., Lattanzi, G., Gonzalez-Mendez, B., Costa-Freitas, A. T., Prieto, D., Columbaro, M., Mattioli, E., Victoria, B., Martinez-Sanchez, N., Ramazanova, A., Fraga, M., Beiras, A., Forteza, J., Dominguez-Gerpe, L., Calvo, C., Lado-Abeal, J.
<strong>Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.</strong>
J. Med. Genet. 46: 40-48, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805829" 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.2008.059485" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Burn1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burn, J., Baraitser, M.
<strong>Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).</strong>
J. Med. Genet. 23: 128-130, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3519971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3519971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3519971" 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.23.2.128" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Cao2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cao, H., Hegele, R. A.
<strong>Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.</strong>
Hum. Molec. Genet. 9: 109-112, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10587585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10587585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10587585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/9.1.109" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Caux2003" class="mim-anchor"></a>
<div class="">
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Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouilleres, O., Cohen, A., Courvalin, J.-C., Laroche, L., Capeau, J., Vigouroux, C., Christin-Maitre, S.
<strong>A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.</strong>
J. Clin. Endocr. Metab. 88: 1006-1013, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12629077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12629077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12629077" 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.2002-021506" target="_blank">Full Text</a>]
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<a id="Davidson1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davidson, M. B., Young, R. T.
<strong>Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.</strong>
Diabetologia 11: 561-568, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1205025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1205025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1205025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01222107" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Dunnigan1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dunnigan, M. G., Cochrane, M., Kelly, A., Scott, J. W.
<strong>Familial lipoatrophic diabetes with dominant transmission: a new syndrome.</strong>
Quart. J. Med. 43: 33-48, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4362786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4362786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4362786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Garg1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garg, A., Peshock, R. M., Fleckenstein, J. L.
<strong>Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).</strong>
J. Clin. Endocr. Metab. 84: 170-174, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9920078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9920078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9920078" 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/jcem.84.1.5383" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Garg2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garg, A., Vinaitheerthan, M., Weatherall, P. T., Bowcock, A. M.
<strong>Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene.</strong>
J. Clin. Endocr. Metab. 86: 59-65, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231979" 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/jcem.86.1.7121" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Garg2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garg, A.
<strong>Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).</strong>
J. Clin. Endocr. Metab. 85: 1776-1782, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10843151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10843151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10843151" 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/jcem.85.5.6605" target="_blank">Full Text</a>]
</p>
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<a id="11" 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="Greene1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greene, M. L., Glueck, C. J., Fujimoto, W. Y., Seegmiller, J. E.
<strong>Benign symmetric lipomatosis (Launosis-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.</strong>
Am. J. Med. 48: 239-246, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(70)90120-8" target="_blank">Full Text</a>]
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<a id="Hegele2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hegele, R. A.
<strong>Premature atherosclerosis associated with monogenic insulin resistance.</strong>
Circulation 103: 2225-2229, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11342468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11342468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11342468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.103.18.2225" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Jackson1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jackson, S. N., Howlett, T. A., McNally, P. G., O'Rahilly, S., Trembath, R. C.
<strong>Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.</strong>
Quart. J. Med. 90: 27-36, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9093586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9093586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9093586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/qjmed/90.1.27" target="_blank">Full Text</a>]
</p>
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<a id="Jackson1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jackson, S. N. J., Pinkney, J., Bargiotta, A., Veal, C. D., Howlett, T. A., McNally, P. G., Corral, R., Johnson, A., Trembath, R. C.
<strong>A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.</strong>
Am. J. Hum. Genet. 63: 534-540, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301971" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Kobberling1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kobberling, J., Dunnigan, M. G.
<strong>Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.</strong>
J. Med. Genet. 23: 120-127, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3712389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3712389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3712389" 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.23.2.120" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Kobberling1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kobberling, J., Willms, B., Kattermann, R., Creutzfeldt, W.
<strong>Lipodystrophy of the extremities: a dominantly inherited syndrome associated with lipoatrophic diabetes.</strong>
Humangenetik 29: 111-120, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/170190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">170190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=170190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00430347" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Lanktree2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lanktree, M., Cao, H., Rabkin, S. W., Hanna, A., Hegele, R. A.
<strong>Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) (Letter)</strong>
Clin. Genet. 71: 183-186, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17250669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17250669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17250669" 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.1399-0004.2007.00740.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Lawrence1946" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lawrence, R. D.
<strong>Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances: a case throwing new light on the action of insulin.</strong>
Lancet 247: 724-731 and 773-775, 1946. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20982387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20982387</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20982387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Ozer1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ozer, F. L., Lichtenstein, J. R., Kwiterovich, P. O., Jr., McKusick, V. A.
<strong>New genetic variety of lipodystrophy. (Abstract)</strong>
Clin. Res. 21: 533 only, 1973.
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Peters1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Peters, J. M., Barnes, R., Bennett, L., Gitomer, W. M., Bowcock, A. M., Garg, A.
<strong>Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.</strong>
Nature Genet. 18: 292-295, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500556" 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/ng0398-292" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Reardon1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reardon, W., Temple, I. K., Mackinnon, H., Leonard, J. V., Baraitser, M.
<strong>Partial lipodystrophy syndromes--a further male case.</strong>
Clin. Genet. 38: 391-395, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2282720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2282720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2282720" 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.1399-0004.1990.tb03602.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Reaven1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reaven, G. M.
<strong>Role of insulin resistance in human disease.</strong>
Diabetes 37: 1595-1607, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3056758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3056758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3056758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2337/diab.37.12.1595" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Robbins1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robbins, D. C., Horton, E. S., Tulp, O., Sims, E. A. H.
<strong>Familial partial lipodystrophy: complications of obesity in the non-obese?</strong>
Metabolism 31: 445-452, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7043176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7043176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7043176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0026-0495(82)90232-3" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="25" class="mim-anchor"></a>
<a id="Schmidt2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schmidt, H. H.-J., Genschel, J., Baier, P., Schmidt, M., Ockenga, J., Tietge, U. J. F., Propsting, M., Buttner, C., Manns, M. P., Lochs, H., Brabant, G.
<strong>Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.</strong>
J. Clin. Endocr. Metab. 86: 2289-2295, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11344241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11344241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11344241" 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/jcem.86.5.7500" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="26" class="mim-anchor"></a>
<a id="Shackleton2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., Gregory, S., O'Rahilly, S., Trembath, R. C.
<strong>LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.</strong>
Nature Genet. 24: 153-156, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/72807" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="27" class="mim-anchor"></a>
<a id="Speckman2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., Bowcock, A. M.
<strong>Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.</strong>
Am. J. Hum. Genet. 66: 1192-1198, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 775 only, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739751[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=10739751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302836" target="_blank">Full Text</a>]
</p>
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<a id="28" class="mim-anchor"></a>
<a id="Spuler2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spuler, S., Kalbhenn, T., Zabojszcza, J., van Landeghem, F. K. H., Ludtke, A., Wenzel, K., Koehnlein, M., Schuelke, M., Ludemann, L., Schmidt, H. H.
<strong>Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.</strong>
Neurology 68: 677-683, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000255939.73424.f8" target="_blank">Full Text</a>]
</p>
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<a id="29" class="mim-anchor"></a>
<a id="Vantyghem2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vantyghem, M. C., Vincent-Desplanques, D., Defrance-Faivre, F., Capeau, J., Fermon, C., Valat, A. S., Lascols, O., Hecart, A. C., Pigny, P., Delemer, B., Vigouroux, C., Wemeau, J. L.
<strong>Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.</strong>
J. Clin. Endocr. Metab. 93: 2223-2229, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18364375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18364375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18364375" 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.2007-2521" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
<a id="Vigouroux2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vigouroux, C., Auclair, M., Dubosclard, E., Pouchelet, M., Capeau, J., Courvalin, J. C., Buendia, B.
<strong>Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.</strong>
J. Cell Sci. 114: 4459-4468, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1242/jcs.114.24.4459" target="_blank">Full Text</a>]
</p>
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<a id="31" class="mim-anchor"></a>
<a id="Vigouroux2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vigouroux, C., Caux, F. Capeau, J., Christin-Maitre, S., Cohen, A.
<strong>LMNA mutations in atypical Werner's syndrome. (Letter)</strong>
Lancet 362: 1585 only, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14615128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14615128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14615128" 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/S0140-6736(03)14760-5" target="_blank">Full Text</a>]
</p>
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<a id="32" class="mim-anchor"></a>
<a id="Wettke-Schafer1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wettke-Schafer, R., Kantner, G.
<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
Hum. Genet. 64: 1-23, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6873941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00289472" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 2/13/2009
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<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
John A. Phillips, III - updated : 1/9/2009<br>Cassandra L. Kniffin - updated : 12/7/2007<br>Marla J. F. O'Neill - updated : 11/21/2007<br>Cassandra L. Kniffin - reorganized : 5/3/2004<br>Victor A. McKusick - updated : 3/14/2003<br>Paul Brennan - updated : 3/6/2002<br>John A. Phillips, III - updated : 2/9/2001<br>Victor A. McKusick - updated : 12/14/1999<br>John A. Phillips, III - updated : 11/24/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 7/16/1998<br>Victor A. McKusick - updated : 2/24/1998
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<a id="creationDate" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/2/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 11/14/2024
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 01/25/2024<br>ckniffin : 01/22/2024<br>alopez : 01/18/2024<br>ckniffin : 01/17/2024<br>carol : 03/27/2019<br>ckniffin : 03/27/2019<br>carol : 09/19/2017<br>carol : 09/18/2017<br>carol : 06/23/2015<br>alopez : 2/6/2015<br>joanna : 5/6/2014<br>alopez : 5/21/2013<br>ckniffin : 5/20/2013<br>carol : 6/17/2011<br>carol : 4/14/2011<br>carol : 4/14/2011<br>ckniffin : 4/14/2011<br>carol : 1/6/2010<br>ckniffin : 1/5/2010<br>wwang : 6/1/2009<br>ckniffin : 2/13/2009<br>terry : 1/29/2009<br>alopez : 1/9/2009<br>wwang : 1/7/2008<br>ckniffin : 12/7/2007<br>ckniffin : 12/7/2007<br>carol : 11/27/2007<br>carol : 11/26/2007<br>terry : 11/21/2007<br>carol : 5/3/2004<br>ckniffin : 4/29/2004<br>ckniffin : 4/27/2004<br>carol : 5/28/2003<br>carol : 3/28/2003<br>tkritzer : 3/24/2003<br>terry : 3/14/2003<br>alopez : 3/6/2002<br>carol : 2/6/2002<br>carol : 6/14/2001<br>mgross : 5/31/2001<br>mgross : 5/31/2001<br>terry : 2/9/2001<br>carol : 1/12/2001<br>alopez : 12/14/1999<br>carol : 12/14/1999<br>alopez : 11/24/1999<br>carol : 2/19/1999<br>carol : 2/15/1999<br>carol : 2/14/1999<br>terry : 8/5/1998<br>terry : 7/16/1998<br>alopez : 2/27/1998<br>terry : 2/25/1998<br>terry : 2/24/1998<br>alopez : 6/2/1997<br>mimadm : 11/5/1994<br>terry : 7/15/1994<br>warfield : 4/12/1994<br>carol : 11/11/1993<br>supermim : 3/16/1992<br>carol : 12/13/1990
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<h3>
<span class="mim-font">
<strong>#</strong> 151660
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</h3>
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<h3>
<span class="mim-font">
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
</span>
</h3>
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<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
FPL2<br />
LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE<br />
LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK<br />
LIPODYSTROPHY, REVERSE PARTIAL<br />
LIPOATROPHIC DIABETES
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<strong>SNOMEDCT:</strong> 715439000; &nbsp;
<strong>ORPHA:</strong> 2348; &nbsp;
<strong>DO:</strong> 0070202; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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1q22
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Lipodystrophy, familial partial, type 2
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151660
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Autosomal dominant
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3
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LMNA
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150330
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial partial lipodystrophy type 2 (FPLD2) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q21.</p>
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<strong>Description</strong>
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<p>Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). </p><p>The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). </p><p><strong><em>Genetic Heterogeneity of Familial Partial Lipodystrophy</em></strong></p><p>
Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12. </p>
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<strong>Clinical Features</strong>
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<p>Dunnigan et al. (1974) described an autosomal dominant disorder in 2 families from the same region of northern Scotland. Features were symmetric lipoatrophy of the trunk and limbs with rounded, full face, tuberoeruptive xanthomata, acanthosis nigricans, and insulin-resistant hyperinsulinism. In 1 family, 6 females, 3 of whom were personally examined by the authors, were affected in 4 generations. In the other family, which was probably related to the first, 6 females in 3 generations were affected. This syndrome is distinct from congenital generalized lipodystrophy (see 608594), from progressive partial lipodystrophy (see 613779), which is a sporadic disorder associated with decreased levels of complement component C3, and from the acquired generalized lipodystrophy described by Lawrence (1946). </p><p>Greene et al. (1970) and Ozer et al. (1973) described a condition of fat accumulation around the neck, shoulders, upper back, and genitalia associated with lean muscular limbs, phlebectasia, insulin resistance, hyperglycemia, and type IV hyperlipoproteinemia. Affected members in the family of Greene et al. (1970) also had hyperuricemia. Successive generations were affected, but only females appeared to have the full-blown disorder. </p><p>Davidson and Young (1975) reported a family with familial partial lipodystrophy characterized by absence of subcutaneous fat from the limbs and lower trunk with sparing of the face and upper trunk. Although lipodystrophy was not seen in males, 5 males were diabetic. The authors suggested X-linked dominant inheritance of the disorder. See also the pedigree analysis of Wettke-Schafer and Kantner (1983), who discussed the possibility of X-linked dominant inheritance with lethality in hemizygous males. </p><p>Burn and Baraitser (1986) reported a family in which 5 members, including 1 male, were affected with familial partial lipodystrophy in an autosomal dominant pattern of inheritance. Clinical features included lipoatrophy of the limbs and trunk, with sparing of the face and neck. Affected members had muscular definition with variable muscular hypertrophy and prominent peripheral veins. Acanthosis nigricans and xanthomata were present. Laboratory studies showed hyperinsulinemia, hyperlipidemia, and insulin resistance. </p><p>Reardon et al. (1990) described partial lipodystrophy in a 2-year-old boy. There was complete absence of fat on the body and limbs, but the face and feet were spared and the hands were puffy. Classification of the case was considered difficult, but the distribution of loss of subcutaneous fat corresponded to that of FPLD type 2 (Dunnigan type) described in adults. </p><p>To investigate whether there is a unique pattern of fat distribution in men and women with FPLD, Garg et al. (1999) performed whole-body magnetic resonance imaging (MRI) in 1 male and 3 female patients from 2 pedigrees. MRI studies confirmed the clinical findings of near-total absence of subcutaneous fat from all extremities. Reduction in subcutaneous adipose tissue from the truncal area was more prominent anteriorly than posteriorly. Increased fat stores were observed in the neck and face. The authors concluded that FPLD results in a characteristic absence of subcutaneous fat from the extremities, with preservation of intermuscular fat stores. </p><p>The clinical features in families studied by Jackson et al. (1998) included a dramatic absence of adipose tissue in the limbs and trunk, more evident in females than in males, with fat retained on the face, in the retroorbital space, and at periserous sites. Jackson et al. (1998) noted that a syndrome with similar metabolic abnormalities, including insulin resistance, hyperinsulinemia, and dyslipidemia, has been referred to as 'metabolic syndrome X' (Reaven, 1988); see 605552. </p><p>Garg (2000) compared the anthropometric variables and prevalence of diabetes mellitus, dyslipidemia, hypertension, and atherosclerotic vascular disease among 17 postpubertal males and 22 females with FPLD from 8 pedigrees. All individuals completed a questionnaire, and fasting blood was analyzed for glucose, insulin, and lipoprotein concentrations. Both affected men and women had similar patterns of fat loss. Compared with the affected men, women had a higher prevalence of diabetes (18% and 50%, respectively; P = 0.05) and atherosclerotic vascular disease (12% and 45%, respectively; P = 0.04), and had higher serum triglycerides (median values, 2.27 and 4.25 mmol/L, respectively; P = 0.02) and lower HDL cholesterol concentrations (age-adjusted means, 0.94 and 0.70 mmol/L, respectively; P = 0.04). The prevalence of both hypertension and fasting serum insulin concentrations were similar. Garg (2000) concluded that females with FPLD are more severely affected with metabolic complications of insulin resistance than are males. </p><p>The common insulin resistance syndrome of obesity, dyslipidemia, hyperglycemia, and hypertension has a well-recognized association with atherosclerosis. Hegele (2001) studied the prevalence of coronary artery disease in a group of individuals with Dunnigan-type familial partial lipodystrophy, all of whom had mutations in the LMNA gene. All individuals had insulin resistance, with significantly more type II diabetes mellitus, hypertension, and dyslipidemia than in normal family control subjects. Eight of 23 individuals (35%) had identifiable endpoints of coronary artery disease (angina pectoris, myocardial infarction, or coronary artery bypass surgery); 1 of these individuals had also developed occlusive peripheral vascular disease. Only 1 control individual had coronary artery disease. Hegele (2001) concluded that Dunnigan-type familial partial lipodystrophy represents a single-gene model for the more common insulin resistance syndrome. </p><p>Caux et al. (2003) reported a 27-year-old man with generalized lipodystrophy, hepatic steatosis, insulin-resistant diabetes, hypertrophic cardiomyopathy, and leukomelanodermic papules. He had been diagnosed with hepatic steatosis at the age of 21 years, hypertriglyceridemia at 22 years, and diabetes at 25 years. The patient's appearance included square jaw, thin lips, high forehead, marked thinning of the eyebrows, pectus excavatum, and narrow shoulders. Generalized atrophy of subcutaneous fat resulted in sunken cheeks and muscular pseudohypertrophy of the 4 limbs. Multiple whitish papules on pigmented skin were present on the neck, trunk, and upper limbs and to a lesser extent on the lower limbs. The patient mentioned that his subcutaneous body fat progressively disappeared from the age of 14 years, after the onset of puberty. The development of the skin lesions occurred simultaneously. No acanthosis nigricans was present. Gray hair had been present since the age of 17 years. Muscular strength was normal, and no neurologic defects were detected. Cardiac involvement included concentric hypertrophy of the left ventricle without cavity dilatation, associated with thickened and regurgitant valves, aortic fibrotic nodules, and calcification of the posterior annulus. Doppler echocardiographic findings were similar to those described in aged patients. Abdominal MRI revealed an absence of body fat at both the subcutaneous and visceral levels. Osteopoikilosis, acroosteolysis, hypoplastic clavicles, wide sutures, and mandibular hypoplasia, previously described in mandibuloacral dysplasia (MAD; 248370), were not identified by bone x-rays. Typical symptoms of Werner syndrome (277700), such as cataracts, short stature, and skeletal anomalies, were absent. Family members were unaffected, and no consanguinity was reported. Genetic analysis identified a heterozygous mutation in the LMNA gene (R133L; 150330.0027). Vigouroux et al. (2003) emphasized that a striking feature in the patient reported by Caux et al. (2003) was muscular hypertrophy of the limbs, which contrasts with the muscular atrophy usually present in Werner syndrome. Muscular hypertrophy, along with insulin-resistant diabetes and hypertriglyceridemia, is more often associated with LMNA-linked Dunnigan lipodystrophy. Fibroblasts from this patient showed nuclear abnormalities identical to those described in Dunnigan lipodystrophy (Vigouroux et al., 2001). </p><p>Spuler et al. (2007) reported 13 FPLD2 patients with neuromuscular involvement. Twelve had muscle hypertrophy, 9 had severe myalgias, and 8 had multiple nerve entrapment syndromes. Skeletal muscle biopsies showed marked hypertrophy of type 1 and type 2 muscle fibers and nonspecific myopathic changes. Sural nerve biopsies showed numerous paranodal myelin swellings, or tomacula. Skeletal muscle myostatin (MSTN; 601788) mRNA was decreased in patients compared to controls, but no MSTN gene mutations were detected. FPLD2 muscle specimens had a large number of SMAD (see, e.g., 601595) molecules adhered to the nuclear membrane and not found within the nucleus, compared to normal muscle or muscle from a patient with a non-FPLD LMNA disease. Spuler et al. (2007) concluded that neuromuscular features of FPLD2 may result from disrupted SMAD-MSTN signaling. </p><p>Vantyghem et al. (2008) compared the fertility and occurrence of obstetric complications of women with familial partial lipodystrophy due to LMNA mutations with those of unaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS). Data were obtained from clinical follow-up of 7 families with patients exhibiting mutations in LMNA (14 affected among 48 women). The mean number of live children per woman was 1.7 in affected patients versus 2.8 in nonaffected relatives. Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes, and 14% experienced eclampsia and fetal death. Vantyghem et al. (2008) concluded that in these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility, and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar body mass index. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes, and obstetrical complications and require reinforced gynecologic and obstetric care. </p>
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<strong>Inheritance</strong>
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<p>Although X-linked dominant inheritance had been suggested, affected pedigrees reported by Robbins et al. (1982), Jackson et al. (1997), and Peters et al. (1998) showed clear autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>In a genomewide scan using highly polymorphic short tandem repeats (STRs) in individuals from 5 well-characterized FPLD pedigrees, Peters et al. (1998) mapped the disease locus to 1q21-q22. The maximum 2-point lod score obtained with a highly polymorphic microsatellite at D1S2624 at theta (max) = 0.0 was 5.84. Multipoint linkage analysis yielded a peak lod score of 8.25 between D1S305 and D1S1600. There was no evidence for genetic heterogeneity in these pedigrees. </p><p>Anderson et al. (1999) performed linkage and haplotype analysis with highly polymorphic microsatellite markers on a large, multigenerational Caucasian kindred of German ancestry with the Dunnigan form of familial partial lipodystrophy. The family showed affected members through at least 4 generations. The results yielded a maximum 2-point lod score of 4.96 at theta = 0 for marker D1S2721 and a maximum multipoint lod score of 6.27 near the same marker. The results of the haplotype analysis supported the minimal candidate region reported by Peters et al. (1998). </p><p>Jackson et al. (1998) ascertained 2 multigenerational families, with a combined total of 18 individuals with partial lipodystrophy. A genomewide linkage search using microsatellite markers provided conclusive evidence of linkage to 1q21 (D1S498, maximum lod score = 6.89 at theta = 0.00), with no evidence of heterogeneity. Haplotype and multipoint analysis supported the location of the locus (which they symbolized PLD, for partial lipodystrophy) within a 21.2-cM chromosomal region flanked by markers D1S2881 and D1S484. </p>
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<strong>Molecular Genetics</strong>
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<p>In 5 Canadian FPLD families, Cao and Hegele (2000) identified heterozygosity for a mutation in the lamin A/C gene (R482Q; 150330.0010). There were no differences in age, gender, or body mass index in Q482/R482 heterozygotes compared with R482/R482 homozygotes (normals) from these families; however, there were significantly more Q482/R482 heterozygotes who had definite partial lipodystrophy and frank diabetes. Also compared with the normal homozygotes, heterozygotes had significantly higher serum insulin and C-peptide (see 176730) levels. The LMNA heterozygotes with diabetes were significantly older than heterozygotes without diabetes. </p><p>In 6 families and 3 isolated cases of partial lipodystrophy, Shackleton et al. (2000) found heterozygosity for an R482W missense mutation in the LMNA gene (150330.0011), in the same codon as the R482Q mutation found in Canadian families by Cao and Hegele (2000). Shackleton et al. (2000) identified a third mutation in that codon, R482L (150330.0012), in another family with partial lipodystrophy. </p><p>Speckman et al. (2000) analyzed the LMNA gene in 15 families with partial lipodystrophy and identified the R482Q mutation in 5, the R482W mutation in 7, and a G465D mutation (150330.0015) in 1. </p><p>Schmidt et al. (2001) identified a family with partial lipodystrophy carrying the R482W missense mutation in the LMNA gene. Clinically, the loss of subcutaneous fat and muscular hypertrophy, especially of the lower extremities, started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. Characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. </p><p>Lanktree et al. (2007) analyzed the LMNA gene in 3 unrelated patients with FPLD2 and identified heterozygosity for 3 different missense mutations, all affecting only the lamin A isoform and each changing a conserved residue. Two of the mutations, D230N (150330.0042) and R399C (150330.0043), were 5-prime to the nuclear localization signal, which is not typical of LMNA mutations in FPLD2. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In a family with an atypical form of FPLD, Speckman et al. (2000) identified an R582H mutation (150330.0016) in the LMNA gene. In a follow-up of this same family, Garg et al. (2001) reported that 2 affected sisters showed less severe loss of subcutaneous fat from the trunk and extremities with some retention of fat in the gluteal region and medial parts of the proximal thighs compared to women with typical FPLD2. Neither of the sisters with atypical FPLD2 had acanthosis nigricans or hirsutism, and only 1 had diabetes mellitus, borderline hypertriglyceridemia, and irregular menstrual periods. The sisters also tended to have lower serum triglycerides and higher HDL cholesterol concentrations compared to those with typical FPLD2. Both types had similar excess of fat deposition in the neck, face, intraabdominal, and intermuscular regions. Noting that the R582H mutation interrupts only the lamin A protein, Garg et al. (2001) suggested that in typical FPLD2, interruption of both lamins A and C causes a more severe phenotype than that seen in atypical FPLD2, in which only lamin A is altered. </p>
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<strong>Pathogenesis</strong>
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<p>Araujo-Vilar et al. (2009) studied 7 patients from 1 kindred with FPLD2 caused by an R482W mutation in the LMNA gene (150330.0011). Two had type 2 diabetes mellitus. As a group, the patients with FPLD2 were found to have significantly higher insulin resistance compared to 10 controls. The expression of LMNA in abdominal and peripheral adipose tissues was similar in both groups. In patients with FPLD2, thigh adipose tissue, but not abdomen adipose tissue, showed significantly decreased expression of PPARG2 (601487), RB1 (614041), cyclin D3 (CCND3; 123834), and LPL (609708) (67%, 25%, 38%, and 66%, respectively) compared to controls. There was an accumulation of prelamin A in the nuclear envelope of peripheral adipose tissue of patients with FPLD2. Electron microscopic analysis of adipocytes of patients with FPLD2 showed defects in the peripheral heterochromatin and a nuclear fibrous dense lamina. Collectively, the findings indicated that transcriptional activity of several genes involved in adipogenesis is altered in affected tissues of patients with FPLD2. </p>
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<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Anderson, J. L., Khan, M., David, W. S., Mahdavi, Z., Nuttall, F. Q., Krech, E., West, S. G., Vance, J. M., Pericak-Vance, M. A., Nance, M. A.
<strong>Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.</strong>
Am. J. Med. Genet. 82: 161-165, 1999.
[PubMed: 9934982]
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<li>
<p class="mim-text-font">
Araujo-Vilar, D., Lattanzi, G., Gonzalez-Mendez, B., Costa-Freitas, A. T., Prieto, D., Columbaro, M., Mattioli, E., Victoria, B., Martinez-Sanchez, N., Ramazanova, A., Fraga, M., Beiras, A., Forteza, J., Dominguez-Gerpe, L., Calvo, C., Lado-Abeal, J.
<strong>Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.</strong>
J. Med. Genet. 46: 40-48, 2009.
[PubMed: 18805829]
[Full Text: https://doi.org/10.1136/jmg.2008.059485]
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<li>
<p class="mim-text-font">
Burn, J., Baraitser, M.
<strong>Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).</strong>
J. Med. Genet. 23: 128-130, 1986.
[PubMed: 3519971]
[Full Text: https://doi.org/10.1136/jmg.23.2.128]
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</li>
<li>
<p class="mim-text-font">
Cao, H., Hegele, R. A.
<strong>Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.</strong>
Hum. Molec. Genet. 9: 109-112, 2000.
[PubMed: 10587585]
[Full Text: https://doi.org/10.1093/hmg/9.1.109]
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</li>
<li>
<p class="mim-text-font">
Caux, F., Dubosclard, E., Lascols, O., Buendia, B., Chazouilleres, O., Cohen, A., Courvalin, J.-C., Laroche, L., Capeau, J., Vigouroux, C., Christin-Maitre, S.
<strong>A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.</strong>
J. Clin. Endocr. Metab. 88: 1006-1013, 2003.
[PubMed: 12629077]
[Full Text: https://doi.org/10.1210/jc.2002-021506]
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<li>
<p class="mim-text-font">
Davidson, M. B., Young, R. T.
<strong>Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.</strong>
Diabetologia 11: 561-568, 1975.
[PubMed: 1205025]
[Full Text: https://doi.org/10.1007/BF01222107]
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<li>
<p class="mim-text-font">
Dunnigan, M. G., Cochrane, M., Kelly, A., Scott, J. W.
<strong>Familial lipoatrophic diabetes with dominant transmission: a new syndrome.</strong>
Quart. J. Med. 43: 33-48, 1974.
[PubMed: 4362786]
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<li>
<p class="mim-text-font">
Garg, A., Peshock, R. M., Fleckenstein, J. L.
<strong>Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).</strong>
J. Clin. Endocr. Metab. 84: 170-174, 1999.
[PubMed: 9920078]
[Full Text: https://doi.org/10.1210/jcem.84.1.5383]
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<li>
<p class="mim-text-font">
Garg, A., Vinaitheerthan, M., Weatherall, P. T., Bowcock, A. M.
<strong>Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene.</strong>
J. Clin. Endocr. Metab. 86: 59-65, 2001.
[PubMed: 11231979]
[Full Text: https://doi.org/10.1210/jcem.86.1.7121]
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<li>
<p class="mim-text-font">
Garg, A.
<strong>Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).</strong>
J. Clin. Endocr. Metab. 85: 1776-1782, 2000.
[PubMed: 10843151]
[Full Text: https://doi.org/10.1210/jcem.85.5.6605]
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<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]
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<li>
<p class="mim-text-font">
Greene, M. L., Glueck, C. J., Fujimoto, W. Y., Seegmiller, J. E.
<strong>Benign symmetric lipomatosis (Launosis-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.</strong>
Am. J. Med. 48: 239-246, 1970.
[PubMed: 5416265]
[Full Text: https://doi.org/10.1016/0002-9343(70)90120-8]
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</li>
<li>
<p class="mim-text-font">
Hegele, R. A.
<strong>Premature atherosclerosis associated with monogenic insulin resistance.</strong>
Circulation 103: 2225-2229, 2001.
[PubMed: 11342468]
[Full Text: https://doi.org/10.1161/01.cir.103.18.2225]
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<li>
<p class="mim-text-font">
Jackson, S. N., Howlett, T. A., McNally, P. G., O'Rahilly, S., Trembath, R. C.
<strong>Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.</strong>
Quart. J. Med. 90: 27-36, 1997.
[PubMed: 9093586]
[Full Text: https://doi.org/10.1093/qjmed/90.1.27]
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<li>
<p class="mim-text-font">
Jackson, S. N. J., Pinkney, J., Bargiotta, A., Veal, C. D., Howlett, T. A., McNally, P. G., Corral, R., Johnson, A., Trembath, R. C.
<strong>A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.</strong>
Am. J. Hum. Genet. 63: 534-540, 1998.
[PubMed: 9683602]
[Full Text: https://doi.org/10.1086/301971]
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<li>
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Kobberling, J., Dunnigan, M. G.
<strong>Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.</strong>
J. Med. Genet. 23: 120-127, 1986.
[PubMed: 3712389]
[Full Text: https://doi.org/10.1136/jmg.23.2.120]
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<li>
<p class="mim-text-font">
Kobberling, J., Willms, B., Kattermann, R., Creutzfeldt, W.
<strong>Lipodystrophy of the extremities: a dominantly inherited syndrome associated with lipoatrophic diabetes.</strong>
Humangenetik 29: 111-120, 1975.
[PubMed: 170190]
[Full Text: https://doi.org/10.1007/BF00430347]
</p>
</li>
<li>
<p class="mim-text-font">
Lanktree, M., Cao, H., Rabkin, S. W., Hanna, A., Hegele, R. A.
<strong>Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) (Letter)</strong>
Clin. Genet. 71: 183-186, 2007.
[PubMed: 17250669]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00740.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lawrence, R. D.
<strong>Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances: a case throwing new light on the action of insulin.</strong>
Lancet 247: 724-731 and 773-775, 1946. Note: Originally Volume I.
[PubMed: 20982387]
</p>
</li>
<li>
<p class="mim-text-font">
Ozer, F. L., Lichtenstein, J. R., Kwiterovich, P. O., Jr., McKusick, V. A.
<strong>New genetic variety of lipodystrophy. (Abstract)</strong>
Clin. Res. 21: 533 only, 1973.
</p>
</li>
<li>
<p class="mim-text-font">
Peters, J. M., Barnes, R., Bennett, L., Gitomer, W. M., Bowcock, A. M., Garg, A.
<strong>Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.</strong>
Nature Genet. 18: 292-295, 1998.
[PubMed: 9500556]
[Full Text: https://doi.org/10.1038/ng0398-292]
</p>
</li>
<li>
<p class="mim-text-font">
Reardon, W., Temple, I. K., Mackinnon, H., Leonard, J. V., Baraitser, M.
<strong>Partial lipodystrophy syndromes--a further male case.</strong>
Clin. Genet. 38: 391-395, 1990.
[PubMed: 2282720]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03602.x]
</p>
</li>
<li>
<p class="mim-text-font">
Reaven, G. M.
<strong>Role of insulin resistance in human disease.</strong>
Diabetes 37: 1595-1607, 1988.
[PubMed: 3056758]
[Full Text: https://doi.org/10.2337/diab.37.12.1595]
</p>
</li>
<li>
<p class="mim-text-font">
Robbins, D. C., Horton, E. S., Tulp, O., Sims, E. A. H.
<strong>Familial partial lipodystrophy: complications of obesity in the non-obese?</strong>
Metabolism 31: 445-452, 1982.
[PubMed: 7043176]
[Full Text: https://doi.org/10.1016/0026-0495(82)90232-3]
</p>
</li>
<li>
<p class="mim-text-font">
Schmidt, H. H.-J., Genschel, J., Baier, P., Schmidt, M., Ockenga, J., Tietge, U. J. F., Propsting, M., Buttner, C., Manns, M. P., Lochs, H., Brabant, G.
<strong>Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.</strong>
J. Clin. Endocr. Metab. 86: 2289-2295, 2001.
[PubMed: 11344241]
[Full Text: https://doi.org/10.1210/jcem.86.5.7500]
</p>
</li>
<li>
<p class="mim-text-font">
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., Gregory, S., O'Rahilly, S., Trembath, R. C.
<strong>LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.</strong>
Nature Genet. 24: 153-156, 2000.
[PubMed: 10655060]
[Full Text: https://doi.org/10.1038/72807]
</p>
</li>
<li>
<p class="mim-text-font">
Speckman, R. A., Garg, A., Du, F., Bennett, L., Veile, R., Arioglu, E., Taylor, S. I., Lovett, M., Bowcock, A. M.
<strong>Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.</strong>
Am. J. Hum. Genet. 66: 1192-1198, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 775 only, 2000.
[PubMed: 10739751]
[Full Text: https://doi.org/10.1086/302836]
</p>
</li>
<li>
<p class="mim-text-font">
Spuler, S., Kalbhenn, T., Zabojszcza, J., van Landeghem, F. K. H., Ludtke, A., Wenzel, K., Koehnlein, M., Schuelke, M., Ludemann, L., Schmidt, H. H.
<strong>Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.</strong>
Neurology 68: 677-683, 2007.
[PubMed: 17325275]
[Full Text: https://doi.org/10.1212/01.wnl.0000255939.73424.f8]
</p>
</li>
<li>
<p class="mim-text-font">
Vantyghem, M. C., Vincent-Desplanques, D., Defrance-Faivre, F., Capeau, J., Fermon, C., Valat, A. S., Lascols, O., Hecart, A. C., Pigny, P., Delemer, B., Vigouroux, C., Wemeau, J. L.
<strong>Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.</strong>
J. Clin. Endocr. Metab. 93: 2223-2229, 2008.
[PubMed: 18364375]
[Full Text: https://doi.org/10.1210/jc.2007-2521]
</p>
</li>
<li>
<p class="mim-text-font">
Vigouroux, C., Auclair, M., Dubosclard, E., Pouchelet, M., Capeau, J., Courvalin, J. C., Buendia, B.
<strong>Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.</strong>
J. Cell Sci. 114: 4459-4468, 2001.
[PubMed: 11792811]
[Full Text: https://doi.org/10.1242/jcs.114.24.4459]
</p>
</li>
<li>
<p class="mim-text-font">
Vigouroux, C., Caux, F. Capeau, J., Christin-Maitre, S., Cohen, A.
<strong>LMNA mutations in atypical Werner&#x27;s syndrome. (Letter)</strong>
Lancet 362: 1585 only, 2003.
[PubMed: 14615128]
[Full Text: https://doi.org/10.1016/S0140-6736(03)14760-5]
</p>
</li>
<li>
<p class="mim-text-font">
Wettke-Schafer, R., Kantner, G.
<strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong>
Hum. Genet. 64: 1-23, 1983.
[PubMed: 6873941]
[Full Text: https://doi.org/10.1007/BF00289472]
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Cassandra L. Kniffin - updated : 2/13/2009<br>John A. Phillips, III - updated : 1/9/2009<br>Cassandra L. Kniffin - updated : 12/7/2007<br>Marla J. F. O&#x27;Neill - updated : 11/21/2007<br>Cassandra L. Kniffin - reorganized : 5/3/2004<br>Victor A. McKusick - updated : 3/14/2003<br>Paul Brennan - updated : 3/6/2002<br>John A. Phillips, III - updated : 2/9/2001<br>Victor A. McKusick - updated : 12/14/1999<br>John A. Phillips, III - updated : 11/24/1999<br>Victor A. McKusick - updated : 2/14/1999<br>Victor A. McKusick - updated : 7/16/1998<br>Victor A. McKusick - updated : 2/24/1998
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Victor A. McKusick : 6/2/1986
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