2958 lines
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Entry
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- #305390 - EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
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- OMIM
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<p>
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<span class="h4">#305390</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/305390"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS133780"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EXUDATIVE VITREORETINOPATHY 2, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=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.ncbi.nlm.nih.gov/books/NBK1331/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9487" 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=305390[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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111413" 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/305390" 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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<div><a href="https://omia.org/results?search_type=advanced&omia_id=002189,002348" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 891<br />
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<strong>DO:</strong> 0111413<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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305390
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2<br />
|
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EVRX<br />
|
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FEVR, X-LINKED; FEVRX
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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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>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/194?start=-3&limit=10&highlight=194">
|
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Xp11.3
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</a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Exudative vitreoretinopathy 2, X-linked
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/305390"> 305390 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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NDP
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/300658"> 300658 </a>
|
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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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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/305390" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS133780" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/305390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/305390" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </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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- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br /> -
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X-linked dominant (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</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> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 /> -
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Nystagmus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
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Retinal fold <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37480005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37480005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0229197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229197</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span><br /> -
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Retinal tear <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232003005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232003005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1275615004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1275615004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95690009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95690009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035321</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011958</a>]</span><br /> -
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Retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
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|
Dragged macula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230816</a>]</span><br /> -
|
|
Avascular peripheral retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230815</a>]</span><br /> -
|
|
Chorioretinal scarring in temporal periphery <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230814&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230814</a>]</span><br /> -
|
|
Fibrous tissue in temporal retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230813</a>]</span><br /> -
|
|
Vitreous degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247090008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247090008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60189009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60189009</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">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155366</a>]</span><br /> -
|
|
Retinal holes (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232003005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232003005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1275615004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1275615004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95690009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95690009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302888003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302888003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035321</a>, <a href="https://bioportal.bioontology.org/search?q=C4551442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011958</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0011530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011530</a>]</span><br /> -
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Hyaloid remnant (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230811</a>]</span><br /> -
|
|
Retinal vascular tortuosity (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012841</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012841</a>]</span><br /> -
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Retinal neovascularization (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61267008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61267008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030666</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030666</a>]</span><br /> -
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|
Retinal deposits (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95689000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95689000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235972</a>]</span><br /> -
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Microphthalmia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
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Phthisis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/154283005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">154283005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700272008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700272008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/A15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A15</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/A15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A15.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/011.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">011.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">011</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/011.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">011.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032262" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032262</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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<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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- Symptomatic female carriers have been described in 1 Japanese family<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 norrin cystine knot growth factor gene (NDP, <a href="/entry/300658#0006">300658.0006</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
|
|
- <a href="/phenotypicSeries/PS133780">PS133780</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</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>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<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">
|
|
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<p>A number sign (#) is used with this entry because of evidence that exudative vitreoretinopathy-2 (EVR2) is caused by mutation in the NDP gene (<a href="/entry/300658">300658</a>), which is also mutant in Norrie disease (<a href="/entry/310600">310600</a>), on Xp11.</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="#9" 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 FEVR, see EVR1 (<a href="/entry/133780">133780</a>).</p>
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<p>Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates (<a href="#8" class="mim-tip-reference" title="Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S. <strong>X-linked recessive familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 114: 145-148, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642288</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)73977-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642288">Plager et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642288" 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="#8" class="mim-tip-reference" title="Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S. <strong>X-linked recessive familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 114: 145-148, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642288</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)73977-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642288">Plager et al. (1992)</a> observed a family in which 4 boys, the children of 3 sisters, had FEVR. They pointed to the family reported by <a href="#3" class="mim-tip-reference" title="Dudgeon, J. <strong>Familial exudative vitreo-retinopathy.</strong> Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>]" pmid="95062">Dudgeon (1979)</a> in which 2 brothers and 2 of their male second cousins related through female relatives had this disorder. The 2 brothers, aged 18 and 14 years, had the features of FEVR, whereas the 2 cousins, aged 9 and 7.5 years, showed congenital retinal folds. A link between the 2 conditions has been postulated in the case of the autosomal dominant form as well. <a href="#8" class="mim-tip-reference" title="Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S. <strong>X-linked recessive familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 114: 145-148, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642288</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)73977-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642288">Plager et al. (1992)</a> also commented on the fact that sporadic cases seemed most often to be male. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1642288+95062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W. <strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong> Brit. J. Ophthal. 77: 168-170, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>] [<a href="https://doi.org/10.1136/bjo.77.3.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8457509">Fullwood et al. (1993)</a> restudied the kindred originally reported by <a href="#3" class="mim-tip-reference" title="Dudgeon, J. <strong>Familial exudative vitreo-retinopathy.</strong> Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>]" pmid="95062">Dudgeon (1979)</a> in which 7 affected males in 4 sibships were connected through carrier females. They commented that the findings at birth were those of a retinopathy superficially resembling retinopathy of prematurity (ROP), retinal folds, or, in advanced cases, enophthalmos or even phthisis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8457509+95062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fulton, A. B., Hansen, R. M., Petersen, R. A., Vanderveen, D. K. <strong>The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.</strong> Arch. Ophthal. 119: 499-505, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296015</a>] [<a href="https://doi.org/10.1001/archopht.119.4.499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11296015">Fulton et al. (2001)</a> studied the electroretinographic (ERG) responses in 25 children characterized by maximum, acute phase ROP (none, mild, moderate, severe, and very severe). In the none to severe categories, the ERG responses varied significantly with the severity of acute phase ROP. In the very severe category, the ERG responses were too attenuated to calculate the responses. The authors concluded that rod photoreceptors must be involved in ROP. They found that the more severe the acute phase ROP, the more severe the compromise of the processes involved in the activation of phototransduction in the rods. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296015" 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>FEVR is usually inherited as an autosomal dominant (see <a href="/entry/133780">133780</a>), but there is also an X-linked form (<a href="#8" class="mim-tip-reference" title="Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S. <strong>X-linked recessive familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 114: 145-148, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642288</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)73977-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642288">Plager et al., 1992</a>; <a href="#1" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W. <strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong> Nature Genet. 5: 180-183, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>] [<a href="https://doi.org/10.1038/ng1093-180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252044">Chen et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1642288+8252044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Glass, I. A., Fielder, A. R., Kilpatrick, M. W. <strong>Localization of a gene for X-linked vitreoretinopathy. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 346 only, 1991."None>Fullwood et al. (1991)</a> reported the findings of a linkage analysis which gave a peak lod score of 2.10 at zero recombination with DXYS1 (Xq21.31). Multipoint analysis with the loci DXS255, DXS1, and DXYS1 supported this localization. <a href="#4" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W. <strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong> Brit. J. Ophthal. 77: 168-170, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>] [<a href="https://doi.org/10.1136/bjo.77.3.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8457509">Fullwood et al. (1993)</a> reviewed the suggestion of linkage to DXYS1 (<a href="#5" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Glass, I. A., Fielder, A. R., Kilpatrick, M. W. <strong>Localization of a gene for X-linked vitreoretinopathy. (Abstract)</strong> Am. J. Hum. Genet. 49 (suppl.): 346 only, 1991."None>Fullwood et al., 1991</a>) and stated further that DXS228 gave a maximum lod score of 1.81 at zero recombination. Since the latter marker is located at Xp11, the finding raised the possibility that Norrie disease and X-linked exudative vitreoretinopathy are allelic since Norrie disease is located in the Xp11 region. They pointed out that one of the pedigrees reported by <a href="#2" class="mim-tip-reference" title="Criswick, V. G., Schepens, C. L. <strong>Familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 68: 578-594, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5394449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5394449</a>] [<a href="https://doi.org/10.1016/0002-9394(69)91237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5394449">Criswick and Schepens (1969)</a> was compatible with X linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8457509+5394449" 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>That the phenotypes of both X-linked exudative vitreoretinopathy and Norrie disease can result from different mutations in the same gene was supported strongly by the demonstration by <a href="#1" class="mim-tip-reference" title="Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W. <strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong> Nature Genet. 5: 180-183, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>] [<a href="https://doi.org/10.1038/ng1093-180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252044">Chen et al. (1993)</a> of a leu124-to-phe mutation in the NDP gene in the same family as that reported by <a href="#3" class="mim-tip-reference" title="Dudgeon, J. <strong>Familial exudative vitreo-retinopathy.</strong> Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>]" pmid="95062">Dudgeon (1979)</a> and <a href="#4" class="mim-tip-reference" title="Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W. <strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong> Brit. J. Ophthal. 77: 168-170, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>] [<a href="https://doi.org/10.1136/bjo.77.3.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8457509">Fullwood et al. (1993)</a>; see <a href="/entry/300658#0006">300658.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8457509+95062+8252044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K. <strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong> Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325173</a>] [<a href="https://doi.org/10.1167/iovs.06-1042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17325173">Kondo et al. (2007)</a> screened 62 FEVR and 3 ND Japanese probands and family members for mutations in the NDP gene and identified 5 different mutations (1 splicing and 4 missense) in 4 FEVR patients and 2 ND patients. One proband with a missense mutation in the signal sequence of NDP had significant phenotypic heterogeneity between the affected eyes, indicating a diagnosis of FEVR or ND. The proband with a splicing mutation had typical features of ND, whereas a maternal nephew had a diagnosis of FEVR. X-inactivation profiles indicated that skewing was not significantly different between FEVR affected and unaffected women. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325173" 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 studies of 2 previously unreported X-linked families in which FEVR segregated as an X-linked recessive trait, <a href="#10" class="mim-tip-reference" title="Shastry, B. S., Liu, X., Hejtmancik, J. F., Plager, D. A., Trese, M. T. <strong>Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.</strong> Genomics 44: 247-248, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299244</a>] [<a href="https://doi.org/10.1006/geno.1997.4863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299244">Shastry et al. (1997)</a> could find no mutation in the NDP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Chen1993" class="mim-anchor"></a>
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Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252044" 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/10.1038/ng1093-180" target="_blank">Full Text</a>]
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<a id="Criswick1969" class="mim-anchor"></a>
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Criswick, V. G., Schepens, C. L.
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Am. J. Ophthal. 68: 578-594, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5394449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5394449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5394449" 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/10.1016/0002-9394(69)91237-9" target="_blank">Full Text</a>]
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Dudgeon, J.
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<strong>Familial exudative vitreo-retinopathy.</strong>
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Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/95062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">95062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=95062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W.
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<strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong>
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Brit. J. Ophthal. 77: 168-170, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8457509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8457509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8457509" 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/10.1136/bjo.77.3.168" target="_blank">Full Text</a>]
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Fullwood, P., Jones, J., Bundey, S., Glass, I. A., Fielder, A. R., Kilpatrick, M. W.
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<strong>Localization of a gene for X-linked vitreoretinopathy. (Abstract)</strong>
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Am. J. Hum. Genet. 49 (suppl.): 346 only, 1991.
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Fulton, A. B., Hansen, R. M., Petersen, R. A., Vanderveen, D. K.
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<strong>The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.</strong>
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Arch. Ophthal. 119: 499-505, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K.
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<strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong>
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Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17325173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17325173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17325173" 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/10.1167/iovs.06-1042" target="_blank">Full Text</a>]
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Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S.
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<strong>X-linked recessive familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 114: 145-148, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642288" 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/s0002-9394(14)73977-7" target="_blank">Full Text</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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Shastry, B. S., Liu, X., Hejtmancik, J. F., Plager, D. A., Trese, M. T.
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<strong>Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.</strong>
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Genomics 44: 247-248, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299244" 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/10.1006/geno.1997.4863" target="_blank">Full Text</a>]
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Jane Kelly - updated : 11/27/2007
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Cassandra L. Kniffin - updated : 8/23/2006<br>Jane Kelly - updated : 7/17/2001<br>Victor A. McKusick - updated : 10/10/1997
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Victor A. McKusick : 10/12/1992
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alopez : 7/21/2015<br>mcolton : 7/16/2015<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>wwang : 1/24/2011<br>carol : 3/18/2010<br>carol : 11/27/2007<br>carol : 7/27/2007<br>wwang : 8/23/2006<br>carol : 11/29/2005<br>alopez : 8/20/2002<br>carol : 7/17/2001<br>mark : 10/14/1997<br>terry : 10/10/1997<br>mimadm : 2/27/1994<br>carol : 10/12/1993<br>carol : 4/29/1993<br>carol : 2/17/1993<br>carol : 1/15/1993<br>carol : 10/12/1992
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<span class="mim-font">
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<strong>#</strong> 305390
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<h3>
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EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
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<em>Alternative titles; symbols</em>
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EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2<br />
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EVRX<br />
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FEVR, X-LINKED; FEVRX
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<strong>ORPHA:</strong> 891;
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<strong>DO:</strong> 0111413;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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<th>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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Xp11.3
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<span class="mim-font">
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Exudative vitreoretinopathy 2, X-linked
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<span class="mim-font">
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305390
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X-linked dominant; X-linked recessive
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<span class="mim-font">
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3
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NDP
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<span class="mim-font">
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300658
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that exudative vitreoretinopathy-2 (EVR2) is caused by mutation in the NDP gene (300658), which is also mutant in Norrie disease (310600), on Xp11.</p>
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<strong>Description</strong>
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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 FEVR, see EVR1 (133780).</p>
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<strong>Clinical Features</strong>
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<p>Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates (Plager et al., 1992). </p><p>Plager et al. (1992) observed a family in which 4 boys, the children of 3 sisters, had FEVR. They pointed to the family reported by Dudgeon (1979) in which 2 brothers and 2 of their male second cousins related through female relatives had this disorder. The 2 brothers, aged 18 and 14 years, had the features of FEVR, whereas the 2 cousins, aged 9 and 7.5 years, showed congenital retinal folds. A link between the 2 conditions has been postulated in the case of the autosomal dominant form as well. Plager et al. (1992) also commented on the fact that sporadic cases seemed most often to be male. </p><p>Fullwood et al. (1993) restudied the kindred originally reported by Dudgeon (1979) in which 7 affected males in 4 sibships were connected through carrier females. They commented that the findings at birth were those of a retinopathy superficially resembling retinopathy of prematurity (ROP), retinal folds, or, in advanced cases, enophthalmos or even phthisis. </p><p>Fulton et al. (2001) studied the electroretinographic (ERG) responses in 25 children characterized by maximum, acute phase ROP (none, mild, moderate, severe, and very severe). In the none to severe categories, the ERG responses varied significantly with the severity of acute phase ROP. In the very severe category, the ERG responses were too attenuated to calculate the responses. The authors concluded that rod photoreceptors must be involved in ROP. They found that the more severe the acute phase ROP, the more severe the compromise of the processes involved in the activation of phototransduction in the rods. </p>
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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>FEVR is usually inherited as an autosomal dominant (see 133780), but there is also an X-linked form (Plager et al., 1992; Chen et al., 1993). </p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<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>Fullwood et al. (1991) reported the findings of a linkage analysis which gave a peak lod score of 2.10 at zero recombination with DXYS1 (Xq21.31). Multipoint analysis with the loci DXS255, DXS1, and DXYS1 supported this localization. Fullwood et al. (1993) reviewed the suggestion of linkage to DXYS1 (Fullwood et al., 1991) and stated further that DXS228 gave a maximum lod score of 1.81 at zero recombination. Since the latter marker is located at Xp11, the finding raised the possibility that Norrie disease and X-linked exudative vitreoretinopathy are allelic since Norrie disease is located in the Xp11 region. They pointed out that one of the pedigrees reported by Criswick and Schepens (1969) was compatible with X linkage. </p>
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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>That the phenotypes of both X-linked exudative vitreoretinopathy and Norrie disease can result from different mutations in the same gene was supported strongly by the demonstration by Chen et al. (1993) of a leu124-to-phe mutation in the NDP gene in the same family as that reported by Dudgeon (1979) and Fullwood et al. (1993); see 300658.0006. </p><p>Kondo et al. (2007) screened 62 FEVR and 3 ND Japanese probands and family members for mutations in the NDP gene and identified 5 different mutations (1 splicing and 4 missense) in 4 FEVR patients and 2 ND patients. One proband with a missense mutation in the signal sequence of NDP had significant phenotypic heterogeneity between the affected eyes, indicating a diagnosis of FEVR or ND. The proband with a splicing mutation had typical features of ND, whereas a maternal nephew had a diagnosis of FEVR. X-inactivation profiles indicated that skewing was not significantly different between FEVR affected and unaffected women. </p><p>In studies of 2 previously unreported X-linked families in which FEVR segregated as an X-linked recessive trait, Shastry et al. (1997) could find no mutation in the NDP gene. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chen, Z.-Y., Battinelli, E. M., Fielder, A., Bundey, S., Sims, K., Breakefield, X. O., Craig, I. W.
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<strong>A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</strong>
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Nature Genet. 5: 180-183, 1993.
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[PubMed: 8252044]
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[Full Text: https://doi.org/10.1038/ng1093-180]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Criswick, V. G., Schepens, C. L.
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<strong>Familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 68: 578-594, 1969.
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[PubMed: 5394449]
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[Full Text: https://doi.org/10.1016/0002-9394(69)91237-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dudgeon, J.
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<strong>Familial exudative vitreo-retinopathy.</strong>
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Trans. Ophthal. Soc. U.K. 99: 45-49, 1979.
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[PubMed: 95062]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fullwood, P., Jones, J., Bundey, S., Dudgeon, J., Fielder, A. R., Kilpatrick, M. W.
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<strong>X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.</strong>
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Brit. J. Ophthal. 77: 168-170, 1993.
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[PubMed: 8457509]
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[Full Text: https://doi.org/10.1136/bjo.77.3.168]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fullwood, P., Jones, J., Bundey, S., Glass, I. A., Fielder, A. R., Kilpatrick, M. W.
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<strong>Localization of a gene for X-linked vitreoretinopathy. (Abstract)</strong>
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Am. J. Hum. Genet. 49 (suppl.): 346 only, 1991.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fulton, A. B., Hansen, R. M., Petersen, R. A., Vanderveen, D. K.
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<strong>The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.</strong>
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Arch. Ophthal. 119: 499-505, 2001.
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[PubMed: 11296015]
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[Full Text: https://doi.org/10.1001/archopht.119.4.499]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kondo, H., Qin, M., Kusaka, S., Tahira, T., Hasebe, H., Hayashi, H., Uchio, E., Hayashi, K.
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<strong>Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.</strong>
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Invest. Ophthal. Vis. Sci. 48: 1276-1282, 2007.
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[PubMed: 17325173]
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[Full Text: https://doi.org/10.1167/iovs.06-1042]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Plager, D. A., Orgel, I. K., Ellis, F. D., Hartzer, M., Trese, M. T., Shastry, B. S.
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<strong>X-linked recessive familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 114: 145-148, 1992.
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[PubMed: 1642288]
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[Full Text: https://doi.org/10.1016/s0002-9394(14)73977-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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: 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>
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<p class="mim-text-font">
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Shastry, B. S., Liu, X., Hejtmancik, J. F., Plager, D. A., Trese, M. T.
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<strong>Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.</strong>
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Genomics 44: 247-248, 1997.
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[PubMed: 9299244]
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[Full Text: https://doi.org/10.1006/geno.1997.4863]
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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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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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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Jane Kelly - updated : 11/27/2007<br>Cassandra L. Kniffin - updated : 8/23/2006<br>Jane Kelly - updated : 7/17/2001<br>Victor A. McKusick - updated : 10/10/1997
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</span>
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</div>
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</div>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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 : 10/12/1992
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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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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carol : 03/03/2016<br>alopez : 7/21/2015<br>mcolton : 7/16/2015<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>wwang : 1/24/2011<br>carol : 3/18/2010<br>carol : 11/27/2007<br>carol : 7/27/2007<br>wwang : 8/23/2006<br>carol : 11/29/2005<br>alopez : 8/20/2002<br>carol : 7/17/2001<br>mark : 10/14/1997<br>terry : 10/10/1997<br>mimadm : 2/27/1994<br>carol : 10/12/1993<br>carol : 4/29/1993<br>carol : 2/17/1993<br>carol : 1/15/1993<br>carol : 10/12/1992
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