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<title>
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Entry
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- #601894 - GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2
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- OMIM
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<span class="h4">#601894</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/601894"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS137950"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS) OR (FN1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11615&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/fibronectin-glomerulopathy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84090" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722759007, 818952002<br />
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<strong>ORPHA:</strong> 84090<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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601894
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS<br />
|
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FIBRONECTIN GLOMERULOPATHY
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/985?start=-3&limit=10&highlight=985">
|
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2q35
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Glomerulopathy with fibronectin deposits 2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601894"> 601894 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FN1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/135600"> 135600 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601894" 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>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS137950" 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>
|
|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601894" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601894" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<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>
|
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|
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|
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|
|
|
|
<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">
|
|
|
|
- Hypertension due to renal disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549752</a>]</span> <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">[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> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Microscopic hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197940006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197940006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span><br /> -
|
|
Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
End-stage renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
|
|
Enlarged glomeruli <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4022604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4022604</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030162</a>]</span><br /> -
|
|
Mesangial and subendothelial granular or fibrillar deposits which show immunoreactivity to fibronectin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551392</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset of proteinuria in the second to fourth decades<br /> -
|
|
Onset of end-stage renal disease 15 to 20 years after onset<br /> -
|
|
Slow progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
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|
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</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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- Caused by mutation in the fibronectin 1 gene (FN1, <a href="/entry/135600#0001">135600.0001</a>)<br />
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Glomerulopathy with fibronectin deposits
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- <a href="/phenotypicSeries/PS137950">PS137950</a>
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<a href="/entry/137950"> Glomerulopathy with fibronectin deposits 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/137950"> GFND1 </a>
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<a href="/entry/601894"> Glomerulopathy with fibronectin deposits 2 </a>
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<a href="/entry/135600"> FN1 </a>
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<a href="/entry/135600"> 135600 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that glomerulopathy with fibronectin deposits-2 (GFND2) is caused by heterozygous mutation in the gene encoding fibronectin-1 (FN1; <a href="/entry/135600">135600</a>) on chromosome 2q35.</p>
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<p>Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (<a href="#2" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18268355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of GFND, see <a href="/entry/137950">137950</a>.</p>
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<p><a href="#3" class="mim-tip-reference" title="Mazzucco, G., Maran, E., Rollino, C., Monga, G. <strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong> Hum. Path. 23: 63-68, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544672</a>] [<a href="https://doi.org/10.1016/0046-8177(92)90013-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544672">Mazzucco et al. (1992)</a> described an Italian mother and daughter with slowly progressive nephrotic syndrome. Proteinuria was first detected at ages 25 and 11 years, respectively. Renal biopsy from both patients showed similar glomerular changes, including marked widening of the mesangial stalk, irregular thickening of the basement membrane, and presence of mesangial and subendothelial deposits. Electron microscopy disclosed huge glomerular electron-dense deposits containing 12-nm fibrils. Immunohistochemical studies showed strong fibronectin staining in the mesangium and along glomerular basement membranes. Most glomerular fibronectin was plasma-derived, as shown by specific monoclonal antibodies. The mother showed a slow decrease of glomerular function, and a second biopsy performed 8 years after the first investigation showed scarcely modified glomerular changes, consistent with an indolent evolution. In a review of the histologic findings of the mother and daughter reported by <a href="#3" class="mim-tip-reference" title="Mazzucco, G., Maran, E., Rollino, C., Monga, G. <strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong> Hum. Path. 23: 63-68, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544672</a>] [<a href="https://doi.org/10.1016/0046-8177(92)90013-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544672">Mazzucco et al. (1992)</a>, <a href="#5" class="mim-tip-reference" title="Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J. <strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong> Kidney Int. 48: 163-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>] [<a href="https://doi.org/10.1038/ki.1995.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564073">Strom et al. (1995)</a> stated that the deposits were granular in nature with a few 12-nm fibrils in the mesangial and subendothelial spaces. In a follow-up of this family, <a href="#2" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> noted that the 53-year-old mother had moderately reduced renal function and the 25-year-old daughter had normal renal function. A paternal aunt of the mother died at 37 years of nephropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18268355+1544672+7564073" 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="Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M. <strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong> Am. J. Kidney Dis. 25: 781-791, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90555-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747733">Assmann et al. (1995)</a> reported an affected father and son from the Netherlands. Low-grade proteinuria and hypertension were discovered in the father at age 30 years, and proteinuria in the son at age 18. Renal biopsies from both patients disclosed a distinct form of fibrillary glomerulonephritis that was characterized by massive deposits of a homogeneous eosinophilic material in the mesangial and subendothelial areas. Staining for amyloid was negative, and staining for immunoglobulins was faint. However, the material stained strongly for plasma-derived fibronectin. Electron microscopy showed that the mesangial and subendothelial deposits were composed of irregularly arranged fibrils or microtubules 10 to 12 nm in diameter. In both patients, the disorder showed indolent course with hardly any deterioration of renal function. <a href="#1" class="mim-tip-reference" title="Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M. <strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong> Am. J. Kidney Dis. 25: 781-791, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90555-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747733">Assmann et al. (1995)</a> concluded that fibrillary glomerulonephritis with massive deposits of fibronectin represents a rare form of familial glomerulonephritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Niimi, K., Tsuru, N., Uesugi, N., Takebayashi, S. <strong>Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.</strong> Pediat. Nephrol. 17: 363-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12042895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12042895</a>] [<a href="https://doi.org/10.1007/s00467-002-0833-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12042895">Niimi et al. (2002)</a> reported a 3-year-old Japanese boy with proteinuria, microscopic hematuria, and hypertension. Renal function was intact, but renal biopsy showed enlarged glomeruli with granular fibronectin deposits in the peripheral loop and mesangium. There were no immune deposits and no evidence of systemic disease. Twelve other family members were subsequently found to have mild hematuria or proteinuria, but none were biopsied. Renal function in the proband was preserved during 7 years of follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12042895" 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>Autosomal dominant inheritance of GFND2 was supported in 6 affected families reviewed by <a href="#5" class="mim-tip-reference" title="Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J. <strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong> Kidney Int. 48: 163-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>] [<a href="https://doi.org/10.1038/ki.1995.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564073">Strom et al. (1995)</a>. There were affected individuals in 2 generations in 4 of the families, including a father and 4 sons in 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564073" 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>By linkage analysis of a large Italian family with GFND2 first reported by <a href="#5" class="mim-tip-reference" title="Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J. <strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong> Kidney Int. 48: 163-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>] [<a href="https://doi.org/10.1038/ki.1995.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564073">Strom et al. (1995)</a>, <a href="#2" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> found linkage to the FN1 gene on chromosome 2q34 (2-point Z-max = 3.084 for markers D2S128 and D2S2361). Linkage was excluded from the GFND1 locus on 1q32. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18268355+7564073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from 6 unrelated families with GFND2, <a href="#2" class="mim-tip-reference" title="Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M. <strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong> Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0707730105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18268355">Castelletti et al. (2008)</a> identified heterozygous mutations in the FN1 gene (<a href="/entry/135600#0001">135600.0001</a>-<a href="/entry/135600#0003">135600.0003</a>). Four of the families had previously been reported by <a href="#3" class="mim-tip-reference" title="Mazzucco, G., Maran, E., Rollino, C., Monga, G. <strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong> Hum. Path. 23: 63-68, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544672</a>] [<a href="https://doi.org/10.1016/0046-8177(92)90013-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1544672">Mazzucco et al. (1992)</a>, <a href="#5" class="mim-tip-reference" title="Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J. <strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong> Kidney Int. 48: 163-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>] [<a href="https://doi.org/10.1038/ki.1995.280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564073">Strom et al. (1995)</a>, <a href="#1" class="mim-tip-reference" title="Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M. <strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong> Am. J. Kidney Dis. 25: 781-791, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90555-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747733">Assmann et al. (1995)</a>, and <a href="#4" class="mim-tip-reference" title="Niimi, K., Tsuru, N., Uesugi, N., Takebayashi, S. <strong>Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.</strong> Pediat. Nephrol. 17: 363-366, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12042895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12042895</a>] [<a href="https://doi.org/10.1007/s00467-002-0833-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12042895">Niimi et al. (2002)</a>. Although 3 families shared the same mutation, there was no evidence for a founder effect. Six (40%) of 15 affected families were found to have FN1 mutations, suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12042895+7564073+1544672+7747733+18268355" 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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Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M.
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<strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong>
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Am. J. Kidney Dis. 25: 781-791, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0272-6386(95)90555-3" target="_blank">Full Text</a>]
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Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M.
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<strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong>
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Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18268355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18268355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18268355[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=18268355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mazzucco, G., Maran, E., Rollino, C., Monga, G.
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<strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong>
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Hum. Path. 23: 63-68, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1544672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1544672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1544672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Niimi, K., Tsuru, N., Uesugi, N., Takebayashi, S.
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<strong>Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.</strong>
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Pediat. Nephrol. 17: 363-366, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12042895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12042895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12042895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J.
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<strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong>
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Kidney Int. 48: 163-170, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - reorganized : 3/18/2008
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Cassandra L. Kniffin - updated : 3/12/2008<br>Victor A. McKusick - updated : 9/28/2000<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/11/1999
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Victor A. McKusick : 6/23/1997
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carol : 06/20/2016<br>terry : 7/25/2011<br>carol : 7/19/2011<br>carol : 3/18/2008<br>ckniffin : 3/12/2008<br>joanna : 3/18/2004<br>carol : 11/25/2001<br>mcapotos : 10/17/2000<br>mcapotos : 10/13/2000<br>terry : 9/28/2000<br>carol : 1/29/1999<br>terry : 1/26/1999<br>carol : 1/18/1999<br>terry : 1/11/1999<br>jenny : 6/27/1997<br>alopez : 6/26/1997<br>jenny : 6/23/1997
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GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2
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GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS<br />
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FIBRONECTIN GLOMERULOPATHY
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<strong>SNOMEDCT:</strong> 722759007, 818952002;
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<strong>ORPHA:</strong> 84090;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q35
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</td>
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<td>
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<span class="mim-font">
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Glomerulopathy with fibronectin deposits 2
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</td>
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<span class="mim-font">
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601894
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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FN1
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<span class="mim-font">
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135600
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that glomerulopathy with fibronectin deposits-2 (GFND2) is caused by heterozygous mutation in the gene encoding fibronectin-1 (FN1; 135600) on chromosome 2q35.</p>
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<strong>Description</strong>
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<p>Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008). </p><p>For a discussion of genetic heterogeneity of GFND, see 137950.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Mazzucco et al. (1992) described an Italian mother and daughter with slowly progressive nephrotic syndrome. Proteinuria was first detected at ages 25 and 11 years, respectively. Renal biopsy from both patients showed similar glomerular changes, including marked widening of the mesangial stalk, irregular thickening of the basement membrane, and presence of mesangial and subendothelial deposits. Electron microscopy disclosed huge glomerular electron-dense deposits containing 12-nm fibrils. Immunohistochemical studies showed strong fibronectin staining in the mesangium and along glomerular basement membranes. Most glomerular fibronectin was plasma-derived, as shown by specific monoclonal antibodies. The mother showed a slow decrease of glomerular function, and a second biopsy performed 8 years after the first investigation showed scarcely modified glomerular changes, consistent with an indolent evolution. In a review of the histologic findings of the mother and daughter reported by Mazzucco et al. (1992), Strom et al. (1995) stated that the deposits were granular in nature with a few 12-nm fibrils in the mesangial and subendothelial spaces. In a follow-up of this family, Castelletti et al. (2008) noted that the 53-year-old mother had moderately reduced renal function and the 25-year-old daughter had normal renal function. A paternal aunt of the mother died at 37 years of nephropathy. </p><p>Assmann et al. (1995) reported an affected father and son from the Netherlands. Low-grade proteinuria and hypertension were discovered in the father at age 30 years, and proteinuria in the son at age 18. Renal biopsies from both patients disclosed a distinct form of fibrillary glomerulonephritis that was characterized by massive deposits of a homogeneous eosinophilic material in the mesangial and subendothelial areas. Staining for amyloid was negative, and staining for immunoglobulins was faint. However, the material stained strongly for plasma-derived fibronectin. Electron microscopy showed that the mesangial and subendothelial deposits were composed of irregularly arranged fibrils or microtubules 10 to 12 nm in diameter. In both patients, the disorder showed indolent course with hardly any deterioration of renal function. Assmann et al. (1995) concluded that fibrillary glomerulonephritis with massive deposits of fibronectin represents a rare form of familial glomerulonephritis. </p><p>Niimi et al. (2002) reported a 3-year-old Japanese boy with proteinuria, microscopic hematuria, and hypertension. Renal function was intact, but renal biopsy showed enlarged glomeruli with granular fibronectin deposits in the peripheral loop and mesangium. There were no immune deposits and no evidence of systemic disease. Twelve other family members were subsequently found to have mild hematuria or proteinuria, but none were biopsied. Renal function in the proband was preserved during 7 years of follow-up. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal dominant inheritance of GFND2 was supported in 6 affected families reviewed by Strom et al. (1995). There were affected individuals in 2 generations in 4 of the families, including a father and 4 sons in 1. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis of a large Italian family with GFND2 first reported by Strom et al. (1995), Castelletti et al. (2008) found linkage to the FN1 gene on chromosome 2q34 (2-point Z-max = 3.084 for markers D2S128 and D2S2361). Linkage was excluded from the GFND1 locus on 1q32. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected individuals from 6 unrelated families with GFND2, Castelletti et al. (2008) identified heterozygous mutations in the FN1 gene (135600.0001-135600.0003). Four of the families had previously been reported by Mazzucco et al. (1992), Strom et al. (1995), Assmann et al. (1995), and Niimi et al. (2002). Although 3 families shared the same mutation, there was no evidence for a founder effect. Six (40%) of 15 affected families were found to have FN1 mutations, suggesting genetic heterogeneity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Assmann, K. J. M., Koene, R. A. P., Wetzels, J. F. M.
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<strong>Familial glomerulonephritis characterized by massive deposits of fibronectin.</strong>
|
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Am. J. Kidney Dis. 25: 781-791, 1995.
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[PubMed: 7747733]
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[Full Text: https://doi.org/10.1016/0272-6386(95)90555-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Castelletti, F., Donadelli, R., Banterla, F., Hildebrandt, F., Zipfel, P. F., Bresin, E., Otto, E., Skerka, C., Renieri, A., Todeschini, M., Caprioli, J., Caruso, M. R., Artuso, R., Remuzzi, G., Noris, M.
|
|
<strong>Mutations in FN1 cause glomerulopathy with fibronectin deposits.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 2538-2543, 2008.
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[PubMed: 18268355]
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[Full Text: https://doi.org/10.1073/pnas.0707730105]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Mazzucco, G., Maran, E., Rollino, C., Monga, G.
|
|
<strong>Glomerulonephritis with organized deposits: a mesangiopathic, not immuno complex-mediated disease?</strong>
|
|
Hum. Path. 23: 63-68, 1992.
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[PubMed: 1544672]
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[Full Text: https://doi.org/10.1016/0046-8177(92)90013-s]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Niimi, K., Tsuru, N., Uesugi, N., Takebayashi, S.
|
|
<strong>Fibronectin glomerulopathy with nephrotic syndrome in a 3-year-old male.</strong>
|
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Pediat. Nephrol. 17: 363-366, 2002.
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[PubMed: 12042895]
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[Full Text: https://doi.org/10.1007/s00467-002-0833-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Strom, E. H., Banfi, G., Krapf, R., Abt, A. B., Mazzucco, G., Monga, G., Gloor, F., Neuweiler, J., Riess, R., Stosiek, P., Hebert, L. A., Sedmak, D. D., Gudat, F., Mihatsch, M. J.
|
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<strong>Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease.</strong>
|
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Kidney Int. 48: 163-170, 1995.
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[PubMed: 7564073]
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[Full Text: https://doi.org/10.1038/ki.1995.280]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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Cassandra L. Kniffin - reorganized : 3/18/2008<br>Cassandra L. Kniffin - updated : 3/12/2008<br>Victor A. McKusick - updated : 9/28/2000<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 1/11/1999
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Victor A. McKusick : 6/23/1997
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carol : 04/18/2022<br>carol : 06/20/2016<br>terry : 7/25/2011<br>carol : 7/19/2011<br>carol : 3/18/2008<br>ckniffin : 3/12/2008<br>joanna : 3/18/2004<br>carol : 11/25/2001<br>mcapotos : 10/17/2000<br>mcapotos : 10/13/2000<br>terry : 9/28/2000<br>carol : 1/29/1999<br>terry : 1/26/1999<br>carol : 1/18/1999<br>terry : 1/11/1999<br>jenny : 6/27/1997<br>alopez : 6/26/1997<br>jenny : 6/23/1997
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