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<title>
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Entry
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- #601813 - EXUDATIVE VITREORETINOPATHY 4; EVR4
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- OMIM
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<span class="h4">#601813</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="/phenotypicSeries/PS133780"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EXUDATIVE VITREORETINOPATHY) OR (LRP5)" 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=7036&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8364" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601813[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=891" 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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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111411" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/601813" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<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>ORPHA:</strong> 891<br />
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<strong>DO:</strong> 0111411<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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601813
|
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</span>
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</span>
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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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EXUDATIVE VITREORETINOPATHY 4; EVR4
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
|
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>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/683?start=-3&limit=10&highlight=683">
|
|
11q13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Exudative vitreoretinopathy 4
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601813"> 601813 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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">
|
|
LRP5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> 603506 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601813" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS133780" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/601813" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601813" 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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|
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|
|
|
<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 /> -
|
|
Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
|
|
Falciform retinal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204181009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204181009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001493</a>]</span><br /> -
|
|
Tractional retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34711008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34711008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.4</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007917</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007917</a>]</span><br /> -
|
|
Macular ectopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851405</a>]</span><br /> -
|
|
Retinal exudates <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39832008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39832008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240897</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span><br /> -
|
|
Vitreous detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53772007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53772007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247081001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247081001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423361</a>, <a href="https://bioportal.bioontology.org/search?q=C0042907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042907</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001489" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001489</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001489" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001489</a>]</span><br /> -
|
|
Subcapsular opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95723009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95723009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235259</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span><br /> -
|
|
Peripheral retinal avascularization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851406</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007685</a>]</span><br /> -
|
|
Neovascularization <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13018008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13018008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027686</a>]</span><br /> -
|
|
Vitreous hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31341008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31341008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007902</a>]</span><br /> -
|
|
Horizontal pendular nystagmus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866180</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007811</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007811</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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|
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Decreased bone mineral density <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674432</a>, <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004349</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004349</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or early childhood<br /> -
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Clinical variability<br /> -
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Some patients may be asymptomatic<br /> -
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Absence of premature birth, low birthweight, and exposure to oxygen<br /> -
|
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Allelic disorder to osteoporosis-pseudoglioma syndrome (OPPG, <a href="/entry/259770">259770</a>)<br /> -
|
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Genetic heterogeneity, see EVR1 (<a href="/entry/133780">133780</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the low density lipoprotein receptor-related protein-5 gene (LRP5, <a href="/entry/603506#0020">603506.0020</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Exudative vitreoretinopathy
|
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- <a href="/phenotypicSeries/PS133780">PS133780</a>
|
|
- 8 Entries
|
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</h5>
|
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/198?start=-3&limit=10&highlight=198"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617572"> Exudative vitreoretinopathy 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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617572"> 617572 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116806"> CTNNB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116806"> 116806 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/615?start=-3&limit=10&highlight=615"> 7q31.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613310"> Exudative vitreoretinopathy 5 </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/613310"> 613310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613138"> TSPAN12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613138"> 613138 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/275?start=-3&limit=10&highlight=275"> 11p13-p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> Exudative vitreoretinopathy 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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> 605750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> EVR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> 605750 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/350?start=-3&limit=10&highlight=350"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616468"> ?Exudative vitreoretinopathy 6 </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/616468"> 616468 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616454"> ZNF408 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616454"> 616454 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/683?start=-3&limit=10&highlight=683"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601813"> Exudative vitreoretinopathy 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/601813"> 601813 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> LRP5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> 603506 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/811?start=-3&limit=10&highlight=811"> 11q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133780"> Exudative vitreoretinopathy 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">
|
|
|
|
<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/133780"> 133780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> FZD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> 604579 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/811?start=-3&limit=10&highlight=811"> 11q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133780"> Retinopathy of prematurity </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/133780"> 133780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> FZD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> 604579 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/194?start=-3&limit=10&highlight=194"> Xp11.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305390"> Exudative vitreoretinopathy 2, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/305390"> 305390 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300658"> NDP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300658"> 300658 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
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<p>A number sign (#) is used with this entry because familial exudative vitreoretinopathy-4 (EVR4) can be caused by heterozygous, homozygous, or compound heterozygous mutation in the LRP5 gene (<a href="/entry/603506">603506</a>) on chromosome 11q13.</p><p>See also osteoporosis-pseudoglioma syndrome (OPPG; <a href="/entry/259770">259770</a>), an allelic disorder with an overlapping phenotype.</p>
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<p>Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by <a href="#3" class="mim-tip-reference" title="Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C. <strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong> Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159112</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159112[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/10.1016/j.ajhg.2010.01.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159112">Poulter et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159112" 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 familial exudative vitreoretinopathy, see EVR1 (<a href="/entry/133780">133780</a>).</p>
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<p><a href="#6" class="mim-tip-reference" title="Shastry, B. S., Trese, M. T. <strong>Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. (Letter)</strong> Am. J. Med. Genet. 69: 217-218, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9056564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9056564</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970317)69:2<217::aid-ajmg19>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9056564">Shastry and Trese (1997)</a> reported a family in which the mode of inheritance of FEVR appeared to be autosomal recessive. Affected males and females occurred in 3 separate sibships. The parents were consanguineous in the case of 2 of the sibships. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9056564" 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>Two unrelated families with FEVR reported by <a href="#1" class="mim-tip-reference" title="de Crecchio, G., Simonelli, F., Nunziata, G., Mazzeo, S., Greco, G. M., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M. G., Testa, F., Curci, A., D'Urso, M. M., Rinaldi, M. M., Cavaliere, M. L., Castelluccio, P. <strong>Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.</strong> Clin. Genet. 54: 315-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9831343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9831343</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.5440409.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9831343">de Crecchio et al. (1998)</a> likewise showed apparent autosomal recessive inheritance. Compared with autosomal dominant and X-linked recessive inheritance, the presumably recessive form showed earlier onset at birth and a more severe and progressive course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9831343" 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 an Asian family with FEVR, <a href="#4" class="mim-tip-reference" title="Price, S. M., Periam, N., Humphries, A., Woodruff, G., Trembath, R. C. <strong>Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.</strong> Ophthal. Genet. 17: 53-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832721</a>] [<a href="https://doi.org/10.3109/13816819609057871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8832721">Price et al. (1996)</a> found linkage to chromosome 11 (maximum 2-point lod score of 5.55 at D11S533) within the region of the EVR1 locus. Although there was consanguinity within the family, the transmission pattern was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8832721" 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>By high-resolution genotyping of the family reported by <a href="#4" class="mim-tip-reference" title="Price, S. M., Periam, N., Humphries, A., Woodruff, G., Trembath, R. C. <strong>Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.</strong> Ophthal. Genet. 17: 53-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832721</a>] [<a href="https://doi.org/10.3109/13816819609057871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8832721">Price et al. (1996)</a>, <a href="#8" class="mim-tip-reference" title="Toomes, C., Downey, L. M., Bottomley, H. M., Scott, S., Woodruff, G., Trembath, R. C., Inglehearn, C. F. <strong>Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).</strong> Molec. Vis. 10: 37-42, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14737064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14737064</a>]" pmid="14737064">Toomes et al. (2004)</a> determined that the disease locus was not EVR1, but rather a distinct locus approximately 10 cM centromeric to the FZD4 gene (<a href="/entry/604579">604579</a>), which represents EVR1. The novel locus, termed EVR4, was within a 15-cM interval on chromosome 11q13 between D11S1368 and D11S937. The findings indicated that there are 2 nearby but distinct loci for FEVR on chromosome 11q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8832721+14737064" 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>The transmission pattern of EVR4 is autosomal dominant in some families (<a href="#7" class="mim-tip-reference" title="Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C. M., Downey, L. M., Zhang, K., Inglehearn, C. F. <strong>Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.</strong> Am. J. Hum. Genet. 74: 721-730, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15024691[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/10.1086/383202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024691">Toomes et al., 2004</a>) and autosomal recessive in other families (<a href="#2" class="mim-tip-reference" title="Jiao, X., Ventruto, V., Trese, M. T., Shastry, B. S., Hejtmancik, J. F. <strong>Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.</strong> Am. J. Hum. Genet. 75: 878-884, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15346351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15346351</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15346351[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/10.1086/425080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15346351">Jiao et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15024691+15346351" 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 members of 6 unrelated families with FEVR, <a href="#7" class="mim-tip-reference" title="Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C. M., Downey, L. M., Zhang, K., Inglehearn, C. F. <strong>Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.</strong> Am. J. Hum. Genet. 74: 721-730, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15024691[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/10.1086/383202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15024691">Toomes et al. (2004)</a> identified 6 different heterozygous mutations in the LRP5 gene (see, e.g., <a href="/entry/603506#0020">603506.0020</a>-<a href="/entry/603506#0021">603506.0021</a>). One of the families had been reported by <a href="#4" class="mim-tip-reference" title="Price, S. M., Periam, N., Humphries, A., Woodruff, G., Trembath, R. C. <strong>Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.</strong> Ophthal. Genet. 17: 53-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832721</a>] [<a href="https://doi.org/10.3109/13816819609057871" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8832721">Price et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15024691+8832721" 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 affected members of the 3 families with autosomal recessive EVR studied by <a href="#6" class="mim-tip-reference" title="Shastry, B. S., Trese, M. T. <strong>Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. (Letter)</strong> Am. J. Med. Genet. 69: 217-218, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9056564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9056564</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970317)69:2<217::aid-ajmg19>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9056564">Shastry and Trese (1997)</a> and <a href="#1" class="mim-tip-reference" title="de Crecchio, G., Simonelli, F., Nunziata, G., Mazzeo, S., Greco, G. M., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M. G., Testa, F., Curci, A., D'Urso, M. M., Rinaldi, M. M., Cavaliere, M. L., Castelluccio, P. <strong>Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.</strong> Clin. Genet. 54: 315-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9831343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9831343</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.5440409.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9831343">de Crecchio et al. (1998)</a>, <a href="#2" class="mim-tip-reference" title="Jiao, X., Ventruto, V., Trese, M. T., Shastry, B. S., Hejtmancik, J. F. <strong>Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.</strong> Am. J. Hum. Genet. 75: 878-884, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15346351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15346351</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15346351[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/10.1086/425080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15346351">Jiao et al. (2004)</a> identified 3 different homozygous mutations in the LRP5 gene: R570Q (<a href="/entry/603506#0022">603506.0022</a>), R752G (<a href="/entry/603506#0023">603506.0023</a>), and E1367K (<a href="/entry/603506#0024">603506.0024</a>). The findings indicated that mutations in the LRP5 gene can cause both autosomal dominant and autosomal recessive EVR. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9056564+15346351+9831343" 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="Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H. <strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong> Hum. Mutat. 26: 104-112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>] [<a href="https://doi.org/10.1002/humu.20191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15981244">Qin et al. (2005)</a> identified 9 novel mutations in the LRP5 gene (see, e.g., <a href="/entry/603506#0025">603506.0025</a>-<a href="/entry/603506#0028">603506.0028</a>) in Japanese patients with FEVR. Four families showed autosomal dominant inheritance, and 2 families showed autosomal recessive inheritance. One family was found to have a heterozygous mutation in the LRP5 gene (<a href="/entry/603506#0026">603506.0026</a>) and a heterozygous mutation in the FZD4 gene (<a href="/entry/604579#0003">604579.0003</a>) on the same chromosome. <a href="#5" class="mim-tip-reference" title="Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H. <strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong> Hum. Mutat. 26: 104-112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>] [<a href="https://doi.org/10.1002/humu.20191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15981244">Qin et al. (2005)</a> also found that patients with mutations in the LRP5 gene showed reduced bone mineral density and suggested that it is a common feature in patients with EVR4. <a href="#5" class="mim-tip-reference" title="Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H. <strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong> Hum. Mutat. 26: 104-112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>] [<a href="https://doi.org/10.1002/humu.20191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15981244">Qin et al. (2005)</a> proposed that osteoporosis-pseudoglioma syndrome (OPPG; <a href="/entry/259770">259770</a>), which is also caused by mutation in the LRP5 gene, and EVR4 are part of a single phenotypic spectrum with both ocular and bone manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15981244" 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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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="de Crecchio1998" class="mim-anchor"></a>
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de Crecchio, G., Simonelli, F., Nunziata, G., Mazzeo, S., Greco, G. M., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M. G., Testa, F., Curci, A., D'Urso, M. M., Rinaldi, M. M., Cavaliere, M. L., Castelluccio, P.
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<strong>Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.</strong>
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Clin. Genet. 54: 315-320, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9831343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9831343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9831343" 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/10.1034/j.1399-0004.1998.5440409.x" target="_blank">Full Text</a>]
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<a id="Jiao2004" class="mim-anchor"></a>
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Jiao, X., Ventruto, V., Trese, M. T., Shastry, B. S., Hejtmancik, J. F.
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<strong>Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.</strong>
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Am. J. Hum. Genet. 75: 878-884, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15346351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15346351</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15346351[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=15346351" 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/10.1086/425080" target="_blank">Full Text</a>]
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<a id="Poulter2010" class="mim-anchor"></a>
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Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C.
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<strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong>
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Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159112</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159112[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=20159112" 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/j.ajhg.2010.01.012" target="_blank">Full Text</a>]
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Price, S. M., Periam, N., Humphries, A., Woodruff, G., Trembath, R. C.
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<strong>Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.</strong>
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Ophthal. Genet. 17: 53-57, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8832721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8832721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8832721" 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/10.3109/13816819609057871" target="_blank">Full Text</a>]
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<a id="Qin2005" class="mim-anchor"></a>
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Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H.
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<strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong>
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Hum. Mutat. 26: 104-112, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15981244" 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/10.1002/humu.20191" target="_blank">Full Text</a>]
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<a id="Shastry1997" class="mim-anchor"></a>
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Shastry, B. S., Trese, M. T.
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<strong>Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. (Letter)</strong>
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Am. J. Med. Genet. 69: 217-218, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9056564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9056564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9056564" 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/10.1002/(sici)1096-8628(19970317)69:2<217::aid-ajmg19>3.0.co;2-o" target="_blank">Full Text</a>]
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<a id="Toomes2004" class="mim-anchor"></a>
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Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C. M., Downey, L. M., Zhang, K., Inglehearn, C. F.
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<strong>Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.</strong>
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Am. J. Hum. Genet. 74: 721-730, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15024691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15024691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15024691[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=15024691" 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/10.1086/383202" target="_blank">Full Text</a>]
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<a id="Toomes2004" class="mim-anchor"></a>
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Toomes, C., Downey, L. M., Bottomley, H. M., Scott, S., Woodruff, G., Trembath, R. C., Inglehearn, C. F.
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<strong>Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).</strong>
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Molec. Vis. 10: 37-42, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14737064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14737064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14737064" 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 - updated : 8/14/2006
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Victor A. McKusick - updated : 10/21/2004<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - edited : 7/3/1997
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Victor A. McKusick : 5/16/1997
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carol : 10/25/2024
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alopez : 03/21/2023<br>carol : 04/11/2020<br>carol : 03/03/2016<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>carol : 3/18/2010<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>alopez : 10/25/2004<br>terry : 10/21/2004<br>carol : 1/26/1999<br>mark : 7/3/1997<br>mark : 5/16/1997
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EXUDATIVE VITREORETINOPATHY 4; EVR4
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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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Gene/Locus <br /> MIM number
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</tr>
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<tbody>
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<span class="mim-font">
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11q13.2
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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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Exudative vitreoretinopathy 4
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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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601813
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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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Autosomal dominant; Autosomal recessive
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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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3
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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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LRP5
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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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603506
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial exudative vitreoretinopathy-4 (EVR4) can be caused by heterozygous, homozygous, or compound heterozygous mutation in the LRP5 gene (603506) on chromosome 11q13.</p><p>See also osteoporosis-pseudoglioma syndrome (OPPG; 259770), an allelic disorder with an overlapping phenotype.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). </p><p>For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780).</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>Clinical Features</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>Shastry and Trese (1997) reported a family in which the mode of inheritance of FEVR appeared to be autosomal recessive. Affected males and females occurred in 3 separate sibships. The parents were consanguineous in the case of 2 of the sibships. </p><p>Two unrelated families with FEVR reported by de Crecchio et al. (1998) likewise showed apparent autosomal recessive inheritance. Compared with autosomal dominant and X-linked recessive inheritance, the presumably recessive form showed earlier onset at birth and a more severe and progressive course. </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>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>In an Asian family with FEVR, Price et al. (1996) found linkage to chromosome 11 (maximum 2-point lod score of 5.55 at D11S533) within the region of the EVR1 locus. Although there was consanguinity within the family, the transmission pattern was consistent with autosomal dominant inheritance. </p><p>By high-resolution genotyping of the family reported by Price et al. (1996), Toomes et al. (2004) determined that the disease locus was not EVR1, but rather a distinct locus approximately 10 cM centromeric to the FZD4 gene (604579), which represents EVR1. The novel locus, termed EVR4, was within a 15-cM interval on chromosome 11q13 between D11S1368 and D11S937. The findings indicated that there are 2 nearby but distinct loci for FEVR on chromosome 11q. </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>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>The transmission pattern of EVR4 is autosomal dominant in some families (Toomes et al., 2004) and autosomal recessive in other families (Jiao et al., 2004). </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 members of 6 unrelated families with FEVR, Toomes et al. (2004) identified 6 different heterozygous mutations in the LRP5 gene (see, e.g., 603506.0020-603506.0021). One of the families had been reported by Price et al. (1996). </p><p>In affected members of the 3 families with autosomal recessive EVR studied by Shastry and Trese (1997) and de Crecchio et al. (1998), Jiao et al. (2004) identified 3 different homozygous mutations in the LRP5 gene: R570Q (603506.0022), R752G (603506.0023), and E1367K (603506.0024). The findings indicated that mutations in the LRP5 gene can cause both autosomal dominant and autosomal recessive EVR. </p><p>Qin et al. (2005) identified 9 novel mutations in the LRP5 gene (see, e.g., 603506.0025-603506.0028) in Japanese patients with FEVR. Four families showed autosomal dominant inheritance, and 2 families showed autosomal recessive inheritance. One family was found to have a heterozygous mutation in the LRP5 gene (603506.0026) and a heterozygous mutation in the FZD4 gene (604579.0003) on the same chromosome. Qin et al. (2005) also found that patients with mutations in the LRP5 gene showed reduced bone mineral density and suggested that it is a common feature in patients with EVR4. Qin et al. (2005) proposed that osteoporosis-pseudoglioma syndrome (OPPG; 259770), which is also caused by mutation in the LRP5 gene, and EVR4 are part of a single phenotypic spectrum with both ocular and bone manifestations. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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|
|
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<li>
|
|
<p class="mim-text-font">
|
|
de Crecchio, G., Simonelli, F., Nunziata, G., Mazzeo, S., Greco, G. M., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M. G., Testa, F., Curci, A., D'Urso, M. M., Rinaldi, M. M., Cavaliere, M. L., Castelluccio, P.
|
|
<strong>Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.</strong>
|
|
Clin. Genet. 54: 315-320, 1998.
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[PubMed: 9831343]
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[Full Text: https://doi.org/10.1034/j.1399-0004.1998.5440409.x]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jiao, X., Ventruto, V., Trese, M. T., Shastry, B. S., Hejtmancik, J. F.
|
|
<strong>Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.</strong>
|
|
Am. J. Hum. Genet. 75: 878-884, 2004.
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[PubMed: 15346351]
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[Full Text: https://doi.org/10.1086/425080]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C.
|
|
<strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong>
|
|
Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.
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[PubMed: 20159112]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.01.012]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Price, S. M., Periam, N., Humphries, A., Woodruff, G., Trembath, R. C.
|
|
<strong>Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity.</strong>
|
|
Ophthal. Genet. 17: 53-57, 1996.
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[PubMed: 8832721]
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[Full Text: https://doi.org/10.3109/13816819609057871]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H.
|
|
<strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong>
|
|
Hum. Mutat. 26: 104-112, 2005.
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[PubMed: 15981244]
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[Full Text: https://doi.org/10.1002/humu.20191]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Shastry, B. S., Trese, M. T.
|
|
<strong>Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. (Letter)</strong>
|
|
Am. J. Med. Genet. 69: 217-218, 1997.
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[PubMed: 9056564]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970317)69:2<217::aid-ajmg19>3.0.co;2-o]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., Craig, J. E., Jiang, L., Yang, Z., Trembath, R., Woodruff, G., Gregory-Evans, C. Y., Gregory-Evans, K., Parker, M. J., Black, G. C. M., Downey, L. M., Zhang, K., Inglehearn, C. F.
|
|
<strong>Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.</strong>
|
|
Am. J. Hum. Genet. 74: 721-730, 2004.
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[PubMed: 15024691]
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[Full Text: https://doi.org/10.1086/383202]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Toomes, C., Downey, L. M., Bottomley, H. M., Scott, S., Woodruff, G., Trembath, R. C., Inglehearn, C. F.
|
|
<strong>Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).</strong>
|
|
Molec. Vis. 10: 37-42, 2004.
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[PubMed: 14737064]
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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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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/14/2006<br>Victor A. McKusick - updated : 10/21/2004<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - edited : 7/3/1997
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/16/1997
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</span>
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<span class="mim-text-font">
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carol : 10/25/2024<br>alopez : 03/21/2023<br>carol : 04/11/2020<br>carol : 03/03/2016<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>carol : 3/18/2010<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>alopez : 10/25/2004<br>terry : 10/21/2004<br>carol : 1/26/1999<br>mark : 7/3/1997<br>mark : 5/16/1997
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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