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Entry
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- #192315 - VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS; RVCLS
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- OMIM
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<p>
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<span class="h4">#192315</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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<a href="/clinicalSynopsis/192315"><strong>Clinical Synopsis</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="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS" 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=19537&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/NBK546576/" 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/7360" 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=192315[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=247691" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/670ffeca-95cd-4bef-b49a-3bd7e29cc7e1/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span class="panel-title">
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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:0111567" 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/192315" 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/OMIA001220/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111567" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 783787000<br />
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<strong>ORPHA:</strong> 247691<br />
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<strong>DO:</strong> 0111567<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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192315
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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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VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS; RVCLS
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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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CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV<br />
|
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RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA<br />
|
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VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, FORMERLY
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<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/3/281?start=-3&limit=10&highlight=281">
|
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3p21.31
|
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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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Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
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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/192315"> 192315 </a>
|
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</span>
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</td>
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<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">
|
|
TREX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606609"> 606609 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/192315" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
|
|
|
|
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|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/192315" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/192315" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased visual acuity, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <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><br /> -
|
|
Retinal vasculopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674995</a>]</span><br /> -
|
|
Retinal exudates <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39832008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39832008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240897</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span><br /> -
|
|
Retinal hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28998008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28998008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035317</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000573</a>]</span><br /> -
|
|
Macular cotton wool spots <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4072985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4072985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030497" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030497</a>]</span><br /> -
|
|
Macular edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37231002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37231002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040049</a>]</span><br /> -
|
|
Microangiopathic telangiectasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277698</a>]</span><br /> -
|
|
Microaneurysms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87104008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87104008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333101</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Raynaud phenomenon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266261006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266261006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I73.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I73.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/443.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">443.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030880</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030880</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micronodular cirrhosis (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21861000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21861000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0267812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267812</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001413</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001413</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microscopic gastrointestinal bleeding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026016</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Glomerular dysfunction (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277692</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Punctate vasculitis skin lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277693</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200030</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
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<em> Central Nervous System </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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- Central nervous system degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007009</a>]</span><br /> -
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Poor concentration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26329005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26329005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60032008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60032008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233417</a>, <a href="https://bioportal.bioontology.org/search?q=C0235198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235198</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031987</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031987</a>]</span><br /> -
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Progressive forgetfulness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007017</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007017" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007017</a>]</span><br /> -
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Dementia, progressive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Leg hyperreflexia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002395</a>]</span><br /> -
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Hemiparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20022000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20022000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span><br /> -
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Apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68345001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68345001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6950007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6950007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R48.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R48.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002186</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002186</a>]</span><br /> -
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Stroke <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230690007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230690007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038454</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span><br /> -
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Migraine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37796009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37796009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/346.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span><br /> -
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Periventricular white matter lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277690</a>]</span><br /> -
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White matter volume loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313459</a>]</span><br /> -
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Focal white matter calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562927</a>]</span><br /> -
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Subcortical lesions with edema <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277691</a>]</span><br /> -
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Pseudotumors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49293007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49293007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033844</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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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </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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- Psychiatric disturbances <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277843001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277843001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5886745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5886745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</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> LABORATORY ABNORMALITIES </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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- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
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Hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br /> -
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Abnormal liver enzymes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166643006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166643006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438237</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Death occurs 5 to 10 years after onset<br />
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- Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, <a href="/entry/606609#0008">606609.0008</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is caused by heterozygous mutation in the TREX1 gene (<a href="/entry/606609">606609</a>) on chromosome 3p21.</p>
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<p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by <a href="#8" class="mim-tip-reference" title="Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., and 25 others. <strong>C-terminal truncations in human 3-prime-5-prime DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.</strong> Nature Genet. 39: 1068-1070, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660820</a>] [<a href="https://doi.org/10.1038/ng2082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17660820">Richards et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660820" 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="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a> reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis. The CNS lesions were considered unlike any previously reported, leading <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a> to conclude that this was a 'new' hereditary vasculopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174024" 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="Gutmann, D. H., Fischbeck, K. H., Sergott, R. C. <strong>Hereditary retinal vasculopathy with cerebral white matter lesions.</strong> Am. J. Med. Genet. 34: 217-220, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817001</a>] [<a href="https://doi.org/10.1002/ajmg.1320340217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2817001">Gutmann et al. (1989)</a> described the same disorder in a family with affected brother and sister and affected son of the brother and daughter of the sister. The proposita was a woman of Ashkenazi Jewish ancestry who developed progressive loss of vision in her right eye beginning at age 52. She also had had long-standing weakness and pain in her legs. Evaluation at the age of 57 showed retinal exudates and hemorrhage with decreased visual acuity as well as leg weakness and hyperreflexia. Westergren erythrocyte sedimentation rate was elevated. Magnetic resonance imaging and computerized tomography brain scan demonstrated bilateral white matter lesions which progressed. The daughter of the proposita developed transient visual loss and progressive forgetfulness in her early thirties. She had bilateral lower limb hyperreflexia. A biopsy of punctate skin lesions on her thighs demonstrated vasculitis. A brother of the proposita died of presumed brain tumor at the age of 51. In his late forties he had developed progressive visual loss, difficulty concentrating, speech difficulty, seizures, and a mild hemiparesis. The son of this man developed progressive visual loss, forgetfulness, and muscle pains in his legs in his late thirties. Fluorescein angiogram demonstrated retinal perivascular extravasation of dye. He had bilateral lower limb hyperreflexia, and by magnetic resonance imaging of his brain, lesions in the periventricular white matter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2817001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Terwindt, G. M., Haan, J., Ophoff, R. A., Groenen, S. M., Storimans, C. W., Lanser, J. B., Roos, R. A., Bleeker-Wagemakers, E. M., Frants, R. R., Ferrari, M. D. <strong>Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.</strong> Brain 121: 303-316, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9549508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9549508</a>] [<a href="https://doi.org/10.1093/brain/121.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9549508">Terwindt et al. (1998)</a> described hereditary vascular retinopathy (HVR), Raynaud phenomenon (<a href="/entry/179600">179600</a>), and migraine in a large Dutch family originally reported by <a href="#11" class="mim-tip-reference" title="Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A., Bos, P. J. <strong>A new autosomal dominant vascular retinopathy syndrome.</strong> Europ. J. Ophthal. 1: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1821204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1821204</a>] [<a href="https://doi.org/10.1177/112067219100100204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1821204">Storimans et al. (1991)</a>. The disorder showed autosomal dominant inheritance and was characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries that appeared preferentially around the macula (<a href="#11" class="mim-tip-reference" title="Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A., Bos, P. J. <strong>A new autosomal dominant vascular retinopathy syndrome.</strong> Europ. J. Ophthal. 1: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1821204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1821204</a>] [<a href="https://doi.org/10.1177/112067219100100204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1821204">Storimans et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1821204+9549508" 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="Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R. <strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong> Am. J. Hum. Genet. 69: 447-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11438888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438888">Ophoff et al. (2001)</a> reported that abnormalities could be detected by use of fluorescein angiography in otherwise asymptomatic family members who were 25 to 30 years old, suggesting an age of onset in young adulthood. Later stages of the disease involved occlusion of branches of large retinal arteries, avascular areas in the retinal periphery, and sometimes proliferative retinopathy with extensive avascular areas, even close to the optic disc. Of affected members of this family, 80% also had Raynaud phenomenon and migraine was present in 70% of individuals with HVR; a combination of migraine and Raynaud phenomenon was observed in 55% of patients with HVR. Vascular retinopathy is also a prominent feature of the hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) described by <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a>, <a href="#4" class="mim-tip-reference" title="Gutmann, D. H., Fischbeck, K. H., Sergott, R. C. <strong>Hereditary retinal vasculopathy with cerebral white matter lesions.</strong> Am. J. Med. Genet. 34: 217-220, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817001</a>] [<a href="https://doi.org/10.1002/ajmg.1320340217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2817001">Gutmann et al. (1989)</a>, and <a href="#5" class="mim-tip-reference" title="Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W. <strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong> Neurology 49: 1322-1330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>] [<a href="https://doi.org/10.1212/wnl.49.5.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371916">Jen et al. (1997)</a>. The distinctive feature in the families reported by <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a> and <a href="#5" class="mim-tip-reference" title="Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W. <strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong> Neurology 49: 1322-1330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>] [<a href="https://doi.org/10.1212/wnl.49.5.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371916">Jen et al. (1997)</a> was the presence of progressive subcortical contrast-enhancing lesions with surrounding edema, mimicking tumors and prompting biopsy in numerous affected family members. In the North American family of Chinese ancestry with HERNS reported by <a href="#5" class="mim-tip-reference" title="Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W. <strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong> Neurology 49: 1322-1330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>] [<a href="https://doi.org/10.1212/wnl.49.5.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371916">Jen et al. (1997)</a>, electron microscopy showed distinctive multilamination of subendothelial basement membranes of capillaries in the brain and other tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9371916+3174024+11438888+2817001" 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 notable similarity among the 3 families in whom linkage to the same region was demonstrated by <a href="#7" class="mim-tip-reference" title="Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R. <strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong> Am. J. Hum. Genet. 69: 447-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11438888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438888">Ophoff et al. (2001)</a> was the high prevalence of migraine-like headaches. On the other hand, Raynaud phenomenon was reported only in patients with HVR, and pseudotumors as seen in both cerebroretinal vasculopathy and HERNS had not been reported in HVR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438888" 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="#9" class="mim-tip-reference" title="Siveke, J. T., Schmid, H. <strong>Evidence for systemic manifestations in cerebroretinal vasculopathy. (Letter)</strong> Am. J. Med. Genet. 123A: 309 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608656</a>] [<a href="https://doi.org/10.1002/ajmg.a.20369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608656">Siveke and Schmid (2003)</a> described 2 brothers with cerebroretinal vasculopathy who had elevated serum levels of gamma-glutamyltranspeptidase and alkaline phosphatase with normal transaminases for several years prior to the diagnosis of CRV and the onset of typical cerebroretinal manifestations. Cirrhosis developed in one of the brothers. Both brothers suffered from bilateral osteonecrosis of the femoral head at about 30 years of age, which required total hip arthroplasty. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608656" 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="Mateen, F. J., Krecke, K., Younge, B. R., Ford, A. L., Shaikh, A., Kothari, P. H., Atkinson, J. P. <strong>Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.</strong> Neurology 75: 1211-1213, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20876473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20876473</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f4d7ac" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20876473">Mateen et al. (2010)</a> reported the clinical course of members of the large kindred reported by <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a>. A 44-year-old woman belonging to this kindred had daily tension-type headaches and chronic sinusitis. Retinal examination showed microvascular disease with minimal progression and without visual loss, and laboratory studies showed mild elevation of liver transaminases. Brain MRI showed a lesion abutting the frontal horn of the right lateral ventricle, which appeared larger after 6 months and was surrounded by edema with a central zone of presumed necrosis. At 12 months, however, the lesion had regressed with near resolution of the surrounding edema without treatment. Her affected father and paternal grandfather also had histories of tumor-like lesions of the brain. <a href="#6" class="mim-tip-reference" title="Mateen, F. J., Krecke, K., Younge, B. R., Ford, A. L., Shaikh, A., Kothari, P. H., Atkinson, J. P. <strong>Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.</strong> Neurology 75: 1211-1213, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20876473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20876473</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f4d7ac" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20876473">Mateen et al. (2010)</a> noted that in RVCLS, these lesions may occur without neurologic symptoms. The authors also emphasized that treatment of these lesions is unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3174024+20876473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Stam, A. H., Kothari, P. H., Shaikh, A., Gschwendter, A., Jen, J. C., Hodgkinson, S., Hardy, T. A., Hayes, M., Kempster, P. A., Kotschet, K. E., Bajema, I. M., van Duinen, S. G., and 25 others. <strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.</strong> Brain 139: 2909-2922, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27604306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27604306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27604306[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/10.1093/brain/aww217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27604306">Stam et al. (2016)</a> described 78 individuals from 11 unrelated families with mutations in the TREX1 gene. Many of the families had previously been reported. Sixty-five of the 78 individuals had features of RVCLS, and the average age at diagnosis was 42.9 years. At diagnosis, 50/64 had vascular retinopathy, 60/65 had visual disturbances, and 17/64 had neurologic features. Eventually 64/64 developed vascular retinopathy, 40/59 developed focal neurologic defects, 32/57 had cognitive impairment, 26/62 had psychiatric symptoms, and 9/54 had seizures. Thirty-five of the 65 patients had died, primarily from neurologic causes, at an average age of 53.1 years and at an average of 9.0 years after diagnosis. On brain MRI, 34/35 individuals had punctate, nonenhancing white matter lesions with sparing of the subcortical U-fibers and the corpus callosum. Focal calcifications were seen in white matter (although not in the basal ganglia) on head CT in 14/27 individuals. Evidence of liver disease, including elevated alkaline phosphatase and GGT and/or abnormalities on liver histology, was seen in 28/40 individuals. Renal disease was present in 27/44 individuals and included proteinuria and/or elevated serum creatinine. Hypertension was found in 30/50 patients, and anemia was present in 25/34 individuals. Migraine headaches, which were diagnosed in 24/41 individuals, began about 2 decades before the presentation of characteristic features. The 13 individuals who did not have clinical features of RVCLS, including retinopathy or brain lesions, were an average of 8 years younger than the rest of the cohort. In these individuals, 7/13 had mild Raynaud phenomenon, 4/12 had migraine headaches, and 3/13 had psychiatric features such as depression and anxiety. As no known mutation carrier had lived a normal life span without developing RVCLS, suggesting high penetrance and mortality, <a href="#10" class="mim-tip-reference" title="Stam, A. H., Kothari, P. H., Shaikh, A., Gschwendter, A., Jen, J. C., Hodgkinson, S., Hardy, T. A., Hayes, M., Kempster, P. A., Kotschet, K. E., Bajema, I. M., van Duinen, S. G., and 25 others. <strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.</strong> Brain 139: 2909-2922, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27604306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27604306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27604306[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/10.1093/brain/aww217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27604306">Stam et al. (2016)</a> suspected that these 13 individuals would all develop clinical RVCLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27604306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ford, A. L., Chin, V. W., Fellah, S., Binkley, M. M., Bodin, A. M., Balesetti, V., Taiwo, Y., Kang, P., Lin, D., Jen, J. C., Grand, M. G., Bogacki, M., Liszewski, K., Hourcade, D., Chen, Y., Hassenstab, J., Lee, J.-M., An, H., Miner, J. J., Atkinson, J. P. <strong>Lesion evolution and neurodegeneration in RVCLS-S: a monogenic microvasculopathy.</strong> Neurology 95: e1918-e1931, 2020. Note: Erratum: Neurology 96: 919 only, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32887784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32887784</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32887784">Ford et al. (2020)</a> examined brain MRI findings in 20 individuals with RVCLS compared to 26 controls. White matter volumes were decreased in patients compared to controls, and the progression of white matter atrophy was linear in the patients. Gray matter volumes did not differ between patients and controls. Oxygen extraction fraction measured on MRI was elevated in the patients and increased with duration of disease, suggesting chronic ischemia. Cognitive testing in 12 of the patients demonstrated impaired working memory and processing speed, which was independent of anxiety and depression. Progression of brain abnormalities were analyzed in 7 patients who had at least 3 brain MRIs over at least 30 months. In these patients, brain lesion volumes progressed and regressed with high interpatient variability, but FLAIR lesions increased as time to death decreased. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32887784" 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="#10" class="mim-tip-reference" title="Stam, A. H., Kothari, P. H., Shaikh, A., Gschwendter, A., Jen, J. C., Hodgkinson, S., Hardy, T. A., Hayes, M., Kempster, P. A., Kotschet, K. E., Bajema, I. M., van Duinen, S. G., and 25 others. <strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.</strong> Brain 139: 2909-2922, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27604306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27604306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27604306[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/10.1093/brain/aww217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27604306">Stam et al. (2016)</a> proposed diagnostic criteria for RVCLS including major, supportive, and possibly associated features. Major diagnostic criteria included vascular retinopathy; features of local and/or global brain dysfunction with associated MRI findings; family history of autosomal dominant inheritance with middle-age onset of disease; and demonstration of a C-terminal frameshift mutation in the TREX1 gene. Supportive features included focal white matter calcifications on head CT and/or nonenhancing punctate T2 hyperintense white matter lesions on brain MRI at an age when they would not be expected; microvascular liver disease; and microvascular kidney disease. Possibly associated features included anemia consistent with blood loss or chronic disease; microscopic gastrointestinal bleeding; hypertension; migraine; and Raynaud phenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27604306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the large Dutch family reported by <a href="#12" class="mim-tip-reference" title="Terwindt, G. M., Haan, J., Ophoff, R. A., Groenen, S. M., Storimans, C. W., Lanser, J. B., Roos, R. A., Bleeker-Wagemakers, E. M., Frants, R. R., Ferrari, M. D. <strong>Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.</strong> Brain 121: 303-316, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9549508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9549508</a>] [<a href="https://doi.org/10.1093/brain/121.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9549508">Terwindt et al. (1998)</a> with hereditary vascular retinopathy, Raynaud phenomenon, and migraine, <a href="#7" class="mim-tip-reference" title="Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R. <strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong> Am. J. Hum. Genet. 69: 447-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11438888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438888">Ophoff et al. (2001)</a> mapped the locus for HVR to 3p21.3-p21.1. In the family with cerebral retinal vasculopathy reported by <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a> and in the family with HERNS reported by <a href="#5" class="mim-tip-reference" title="Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W. <strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong> Neurology 49: 1322-1330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>] [<a href="https://doi.org/10.1212/wnl.49.5.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371916">Jen et al. (1997)</a>, <a href="#7" class="mim-tip-reference" title="Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R. <strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong> Am. J. Hum. Genet. 69: 447-453, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11438888[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11438888">Ophoff et al. (2001)</a> found linkage to the same region, suggesting allelism of these disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9371916+3174024+11438888+9549508" 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="#8" class="mim-tip-reference" title="Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., and 25 others. <strong>C-terminal truncations in human 3-prime-5-prime DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.</strong> Nature Genet. 39: 1068-1070, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660820</a>] [<a href="https://doi.org/10.1038/ng2082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17660820">Richards et al. (2007)</a> demonstrated that RVCLS is an autosomal dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 9 families with autosomal dominant retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, including families previously described by <a href="#3" class="mim-tip-reference" title="Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K. <strong>Cerebroretinal vasculopathy.</strong> Ophthalmology 95: 649-659, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3174024">Grand et al. (1988)</a>, <a href="#11" class="mim-tip-reference" title="Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A., Bos, P. J. <strong>A new autosomal dominant vascular retinopathy syndrome.</strong> Europ. J. Ophthal. 1: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1821204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1821204</a>] [<a href="https://doi.org/10.1177/112067219100100204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1821204">Storimans et al. (1991)</a>, <a href="#5" class="mim-tip-reference" title="Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W. <strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong> Neurology 49: 1322-1330, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>] [<a href="https://doi.org/10.1212/wnl.49.5.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371916">Jen et al. (1997)</a>, <a href="#13" class="mim-tip-reference" title="Weil, S., Reifenberger, G., Dudel, C., Yousry, T. A., Schriever, S., Noachtar, S. <strong>Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.</strong> Neurology 53: 629-631, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449133</a>] [<a href="https://doi.org/10.1212/wnl.53.3.629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10449133">Weil et al. (1999)</a>, and <a href="#1" class="mim-tip-reference" title="Cohn, A. C., Kotschet, K., Veitch, A., Delatycki, M. B., McCombe, M. F. <strong>Novel ophthalmological features in hereditary endotheliopathy with retinal, nephropathy and stroke syndrome.</strong> Clin. Exp. Ophthal. 33: 181-183, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15807828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15807828</a>] [<a href="https://doi.org/10.1111/j.1442-9071.2005.00976.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15807828">Cohn et al. (2005)</a>, <a href="#8" class="mim-tip-reference" title="Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., and 25 others. <strong>C-terminal truncations in human 3-prime-5-prime DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.</strong> Nature Genet. 39: 1068-1070, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660820</a>] [<a href="https://doi.org/10.1038/ng2082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17660820">Richards et al. (2007)</a> identified 5 different heterozygous frameshift mutations at the C terminus of the TREX1 gene (see, e.g., <a href="/entry/606609#0008">606609.0008</a> and <a href="/entry/606609#0009">606609.0009</a>). In expression studies, the truncated proteins retained exonuclease activity but lost normal perinuclear localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17660820+3174024+10449133+1821204+9371916+15807828" 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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Cohn, A. C., Kotschet, K., Veitch, A., Delatycki, M. B., McCombe, M. F.
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<strong>Novel ophthalmological features in hereditary endotheliopathy with retinal, nephropathy and stroke syndrome.</strong>
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Clin. Exp. Ophthal. 33: 181-183, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15807828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15807828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15807828" 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/10.1111/j.1442-9071.2005.00976.x" target="_blank">Full Text</a>]
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Ford, A. L., Chin, V. W., Fellah, S., Binkley, M. M., Bodin, A. M., Balesetti, V., Taiwo, Y., Kang, P., Lin, D., Jen, J. C., Grand, M. G., Bogacki, M., Liszewski, K., Hourcade, D., Chen, Y., Hassenstab, J., Lee, J.-M., An, H., Miner, J. J., Atkinson, J. P.
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<strong>Lesion evolution and neurodegeneration in RVCLS-S: a monogenic microvasculopathy.</strong>
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Neurology 95: e1918-e1931, 2020. Note: Erratum: Neurology 96: 919 only, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32887784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32887784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32887784" 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/10.1212/WNL.0000000000010659" target="_blank">Full Text</a>]
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<a id="Grand1988" class="mim-anchor"></a>
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Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K.
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<strong>Cerebroretinal vasculopathy.</strong>
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Ophthalmology 95: 649-659, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3174024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3174024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3174024" 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/s0161-6420(88)33131-3" target="_blank">Full Text</a>]
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Gutmann, D. H., Fischbeck, K. H., Sergott, R. C.
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<strong>Hereditary retinal vasculopathy with cerebral white matter lesions.</strong>
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Am. J. Med. Genet. 34: 217-220, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2817001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320340217" target="_blank">Full Text</a>]
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Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W.
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<strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong>
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Neurology 49: 1322-1330, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9371916" 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/10.1212/wnl.49.5.1322" target="_blank">Full Text</a>]
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Mateen, F. J., Krecke, K., Younge, B. R., Ford, A. L., Shaikh, A., Kothari, P. H., Atkinson, J. P.
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<strong>Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.</strong>
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Neurology 75: 1211-1213, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20876473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20876473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20876473" 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/10.1212/WNL.0b013e3181f4d7ac" target="_blank">Full Text</a>]
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Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R.
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<strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong>
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Am. J. Hum. Genet. 69: 447-453, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438888</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11438888[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=11438888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/321975" target="_blank">Full Text</a>]
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Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., and 25 others.
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<strong>C-terminal truncations in human 3-prime-5-prime DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.</strong>
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Nature Genet. 39: 1068-1070, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17660820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17660820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17660820" 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/ng2082" target="_blank">Full Text</a>]
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Siveke, J. T., Schmid, H.
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<strong>Evidence for systemic manifestations in cerebroretinal vasculopathy. (Letter)</strong>
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Am. J. Med. Genet. 123A: 309 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20369" target="_blank">Full Text</a>]
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Stam, A. H., Kothari, P. H., Shaikh, A., Gschwendter, A., Jen, J. C., Hodgkinson, S., Hardy, T. A., Hayes, M., Kempster, P. A., Kotschet, K. E., Bajema, I. M., van Duinen, S. G., and 25 others.
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<strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.</strong>
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Brain 139: 2909-2922, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27604306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27604306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27604306[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=27604306" 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/10.1093/brain/aww217" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Storimans1991" class="mim-anchor"></a>
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Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A., Bos, P. J.
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<strong>A new autosomal dominant vascular retinopathy syndrome.</strong>
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Europ. J. Ophthal. 1: 73-78, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1821204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1821204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1821204" 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/10.1177/112067219100100204" target="_blank">Full Text</a>]
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<a id="Terwindt1998" class="mim-anchor"></a>
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Terwindt, G. M., Haan, J., Ophoff, R. A., Groenen, S. M., Storimans, C. W., Lanser, J. B., Roos, R. A., Bleeker-Wagemakers, E. M., Frants, R. R., Ferrari, M. D.
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<strong>Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.</strong>
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Brain 121: 303-316, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9549508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9549508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9549508" 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/10.1093/brain/121.2.303" target="_blank">Full Text</a>]
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<a id="Weil1999" class="mim-anchor"></a>
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Weil, S., Reifenberger, G., Dudel, C., Yousry, T. A., Schriever, S., Noachtar, S.
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<strong>Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.</strong>
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Neurology 53: 629-631, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10449133" 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/10.1212/wnl.53.3.629" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 01/22/2021
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Cassandra L. Kniffin - updated : 7/21/2011<br>Marla J. F. O'Neill - updated : 9/20/2007<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 8/30/2001
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 11/16/1989
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carol : 08/04/2022
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carol : 08/03/2022<br>carol : 01/25/2021<br>ckniffin : 01/25/2021<br>carol : 01/22/2021<br>carol : 05/14/2019<br>carol : 04/28/2017<br>carol : 05/20/2016<br>carol : 5/19/2016<br>wwang : 7/25/2011<br>ckniffin : 7/21/2011<br>alopez : 9/21/2007<br>alopez : 9/21/2007<br>alopez : 9/20/2007<br>mgross : 3/18/2004<br>carol : 1/14/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>terry : 6/27/2002<br>cwells : 10/18/2001<br>cwells : 9/21/2001<br>terry : 8/30/2001<br>mimadm : 6/7/1995<br>carol : 1/27/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>carol : 11/16/1989
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<strong>#</strong> 192315
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VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS; RVCLS
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CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV<br />
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RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA<br />
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VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, FORMERLY
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<strong>SNOMEDCT:</strong> 783787000;
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<strong>ORPHA:</strong> 247691;
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<strong>DO:</strong> 0111567;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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3p21.31
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Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
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192315
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Autosomal dominant
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3
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TREX1
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606609
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<p>A number sign (#) is used with this entry because of evidence that retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is caused by heterozygous mutation in the TREX1 gene (606609) on chromosome 3p21.</p>
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<strong>Description</strong>
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<p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007). </p>
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<strong>Clinical Features</strong>
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<p>Grand et al. (1988) reported a family in which multiple individuals had a disorder characterized by central nervous system degeneration and retinal vasculopathy. Histopathologic analysis of brain tissue in affected persons demonstrated white matter 'necrosis' without vasculitis. The CNS lesions were considered unlike any previously reported, leading Grand et al. (1988) to conclude that this was a 'new' hereditary vasculopathy. </p><p>Gutmann et al. (1989) described the same disorder in a family with affected brother and sister and affected son of the brother and daughter of the sister. The proposita was a woman of Ashkenazi Jewish ancestry who developed progressive loss of vision in her right eye beginning at age 52. She also had had long-standing weakness and pain in her legs. Evaluation at the age of 57 showed retinal exudates and hemorrhage with decreased visual acuity as well as leg weakness and hyperreflexia. Westergren erythrocyte sedimentation rate was elevated. Magnetic resonance imaging and computerized tomography brain scan demonstrated bilateral white matter lesions which progressed. The daughter of the proposita developed transient visual loss and progressive forgetfulness in her early thirties. She had bilateral lower limb hyperreflexia. A biopsy of punctate skin lesions on her thighs demonstrated vasculitis. A brother of the proposita died of presumed brain tumor at the age of 51. In his late forties he had developed progressive visual loss, difficulty concentrating, speech difficulty, seizures, and a mild hemiparesis. The son of this man developed progressive visual loss, forgetfulness, and muscle pains in his legs in his late thirties. Fluorescein angiogram demonstrated retinal perivascular extravasation of dye. He had bilateral lower limb hyperreflexia, and by magnetic resonance imaging of his brain, lesions in the periventricular white matter. </p><p>Terwindt et al. (1998) described hereditary vascular retinopathy (HVR), Raynaud phenomenon (179600), and migraine in a large Dutch family originally reported by Storimans et al. (1991). The disorder showed autosomal dominant inheritance and was characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries that appeared preferentially around the macula (Storimans et al., 1991). </p><p>Ophoff et al. (2001) reported that abnormalities could be detected by use of fluorescein angiography in otherwise asymptomatic family members who were 25 to 30 years old, suggesting an age of onset in young adulthood. Later stages of the disease involved occlusion of branches of large retinal arteries, avascular areas in the retinal periphery, and sometimes proliferative retinopathy with extensive avascular areas, even close to the optic disc. Of affected members of this family, 80% also had Raynaud phenomenon and migraine was present in 70% of individuals with HVR; a combination of migraine and Raynaud phenomenon was observed in 55% of patients with HVR. Vascular retinopathy is also a prominent feature of the hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) described by Grand et al. (1988), Gutmann et al. (1989), and Jen et al. (1997). The distinctive feature in the families reported by Grand et al. (1988) and Jen et al. (1997) was the presence of progressive subcortical contrast-enhancing lesions with surrounding edema, mimicking tumors and prompting biopsy in numerous affected family members. In the North American family of Chinese ancestry with HERNS reported by Jen et al. (1997), electron microscopy showed distinctive multilamination of subendothelial basement membranes of capillaries in the brain and other tissues. </p><p>A notable similarity among the 3 families in whom linkage to the same region was demonstrated by Ophoff et al. (2001) was the high prevalence of migraine-like headaches. On the other hand, Raynaud phenomenon was reported only in patients with HVR, and pseudotumors as seen in both cerebroretinal vasculopathy and HERNS had not been reported in HVR. </p><p>Siveke and Schmid (2003) described 2 brothers with cerebroretinal vasculopathy who had elevated serum levels of gamma-glutamyltranspeptidase and alkaline phosphatase with normal transaminases for several years prior to the diagnosis of CRV and the onset of typical cerebroretinal manifestations. Cirrhosis developed in one of the brothers. Both brothers suffered from bilateral osteonecrosis of the femoral head at about 30 years of age, which required total hip arthroplasty. </p><p>Mateen et al. (2010) reported the clinical course of members of the large kindred reported by Grand et al. (1988). A 44-year-old woman belonging to this kindred had daily tension-type headaches and chronic sinusitis. Retinal examination showed microvascular disease with minimal progression and without visual loss, and laboratory studies showed mild elevation of liver transaminases. Brain MRI showed a lesion abutting the frontal horn of the right lateral ventricle, which appeared larger after 6 months and was surrounded by edema with a central zone of presumed necrosis. At 12 months, however, the lesion had regressed with near resolution of the surrounding edema without treatment. Her affected father and paternal grandfather also had histories of tumor-like lesions of the brain. Mateen et al. (2010) noted that in RVCLS, these lesions may occur without neurologic symptoms. The authors also emphasized that treatment of these lesions is unclear. </p><p>Stam et al. (2016) described 78 individuals from 11 unrelated families with mutations in the TREX1 gene. Many of the families had previously been reported. Sixty-five of the 78 individuals had features of RVCLS, and the average age at diagnosis was 42.9 years. At diagnosis, 50/64 had vascular retinopathy, 60/65 had visual disturbances, and 17/64 had neurologic features. Eventually 64/64 developed vascular retinopathy, 40/59 developed focal neurologic defects, 32/57 had cognitive impairment, 26/62 had psychiatric symptoms, and 9/54 had seizures. Thirty-five of the 65 patients had died, primarily from neurologic causes, at an average age of 53.1 years and at an average of 9.0 years after diagnosis. On brain MRI, 34/35 individuals had punctate, nonenhancing white matter lesions with sparing of the subcortical U-fibers and the corpus callosum. Focal calcifications were seen in white matter (although not in the basal ganglia) on head CT in 14/27 individuals. Evidence of liver disease, including elevated alkaline phosphatase and GGT and/or abnormalities on liver histology, was seen in 28/40 individuals. Renal disease was present in 27/44 individuals and included proteinuria and/or elevated serum creatinine. Hypertension was found in 30/50 patients, and anemia was present in 25/34 individuals. Migraine headaches, which were diagnosed in 24/41 individuals, began about 2 decades before the presentation of characteristic features. The 13 individuals who did not have clinical features of RVCLS, including retinopathy or brain lesions, were an average of 8 years younger than the rest of the cohort. In these individuals, 7/13 had mild Raynaud phenomenon, 4/12 had migraine headaches, and 3/13 had psychiatric features such as depression and anxiety. As no known mutation carrier had lived a normal life span without developing RVCLS, suggesting high penetrance and mortality, Stam et al. (2016) suspected that these 13 individuals would all develop clinical RVCLS. </p><p>Ford et al. (2020) examined brain MRI findings in 20 individuals with RVCLS compared to 26 controls. White matter volumes were decreased in patients compared to controls, and the progression of white matter atrophy was linear in the patients. Gray matter volumes did not differ between patients and controls. Oxygen extraction fraction measured on MRI was elevated in the patients and increased with duration of disease, suggesting chronic ischemia. Cognitive testing in 12 of the patients demonstrated impaired working memory and processing speed, which was independent of anxiety and depression. Progression of brain abnormalities were analyzed in 7 patients who had at least 3 brain MRIs over at least 30 months. In these patients, brain lesion volumes progressed and regressed with high interpatient variability, but FLAIR lesions increased as time to death decreased. </p>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<p>Stam et al. (2016) proposed diagnostic criteria for RVCLS including major, supportive, and possibly associated features. Major diagnostic criteria included vascular retinopathy; features of local and/or global brain dysfunction with associated MRI findings; family history of autosomal dominant inheritance with middle-age onset of disease; and demonstration of a C-terminal frameshift mutation in the TREX1 gene. Supportive features included focal white matter calcifications on head CT and/or nonenhancing punctate T2 hyperintense white matter lesions on brain MRI at an age when they would not be expected; microvascular liver disease; and microvascular kidney disease. Possibly associated features included anemia consistent with blood loss or chronic disease; microscopic gastrointestinal bleeding; hypertension; migraine; and Raynaud phenomenon. </p>
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<strong>Mapping</strong>
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<p>In the large Dutch family reported by Terwindt et al. (1998) with hereditary vascular retinopathy, Raynaud phenomenon, and migraine, Ophoff et al. (2001) mapped the locus for HVR to 3p21.3-p21.1. In the family with cerebral retinal vasculopathy reported by Grand et al. (1988) and in the family with HERNS reported by Jen et al. (1997), Ophoff et al. (2001) found linkage to the same region, suggesting allelism of these disorders. </p>
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<strong>Inheritance</strong>
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<p>Richards et al. (2007) demonstrated that RVCLS is an autosomal dominant disorder. </p>
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<strong>Molecular Genetics</strong>
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<p>In 9 families with autosomal dominant retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, including families previously described by Grand et al. (1988), Storimans et al. (1991), Jen et al. (1997), Weil et al. (1999), and Cohn et al. (2005), Richards et al. (2007) identified 5 different heterozygous frameshift mutations at the C terminus of the TREX1 gene (see, e.g., 606609.0008 and 606609.0009). In expression studies, the truncated proteins retained exonuclease activity but lost normal perinuclear localization. </p>
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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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Cohn, A. C., Kotschet, K., Veitch, A., Delatycki, M. B., McCombe, M. F.
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<strong>Novel ophthalmological features in hereditary endotheliopathy with retinal, nephropathy and stroke syndrome.</strong>
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Clin. Exp. Ophthal. 33: 181-183, 2005.
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[PubMed: 15807828]
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[Full Text: https://doi.org/10.1111/j.1442-9071.2005.00976.x]
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<li>
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Ford, A. L., Chin, V. W., Fellah, S., Binkley, M. M., Bodin, A. M., Balesetti, V., Taiwo, Y., Kang, P., Lin, D., Jen, J. C., Grand, M. G., Bogacki, M., Liszewski, K., Hourcade, D., Chen, Y., Hassenstab, J., Lee, J.-M., An, H., Miner, J. J., Atkinson, J. P.
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<strong>Lesion evolution and neurodegeneration in RVCLS-S: a monogenic microvasculopathy.</strong>
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Neurology 95: e1918-e1931, 2020. Note: Erratum: Neurology 96: 919 only, 2021.
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[PubMed: 32887784]
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[Full Text: https://doi.org/10.1212/WNL.0000000000010659]
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<li>
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<p class="mim-text-font">
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Grand, M. G., Kaine, J., Fulling, K., Atkinson, J., Dowton, S. B., Farber, M., Craver, J., Rice, K.
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<strong>Cerebroretinal vasculopathy.</strong>
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Ophthalmology 95: 649-659, 1988.
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[PubMed: 3174024]
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[Full Text: https://doi.org/10.1016/s0161-6420(88)33131-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gutmann, D. H., Fischbeck, K. H., Sergott, R. C.
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<strong>Hereditary retinal vasculopathy with cerebral white matter lesions.</strong>
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Am. J. Med. Genet. 34: 217-220, 1989.
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[PubMed: 2817001]
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[Full Text: https://doi.org/10.1002/ajmg.1320340217]
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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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Jen, J., Cohen, A. H., Yue, Q., Stout, J. T., Vinters, H. V., Nelson, S., Baloh, R. W.
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<strong>Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).</strong>
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Neurology 49: 1322-1330, 1997.
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[PubMed: 9371916]
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[Full Text: https://doi.org/10.1212/wnl.49.5.1322]
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<li>
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<p class="mim-text-font">
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Mateen, F. J., Krecke, K., Younge, B. R., Ford, A. L., Shaikh, A., Kothari, P. H., Atkinson, J. P.
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<strong>Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.</strong>
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Neurology 75: 1211-1213, 2010.
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[PubMed: 20876473]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181f4d7ac]
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<li>
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<p class="mim-text-font">
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Ophoff, R. A., DeYoung, J., Service, S. K., Joosse, M., Caffo, N. A., Sandkuijl, L. A., Terwindt, G. M., Haan, J., van den Maagdenberg, A. M. J. M., Jen, J., Baloh, R. W., Barilla-LaBarca, M.-L., Saccone, N. L., Atkinson, J. P., Ferrari, M. D., Freimer, N. B., Frants, R. R.
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<strong>Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.</strong>
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Am. J. Hum. Genet. 69: 447-453, 2001.
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[PubMed: 11438888]
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[Full Text: https://doi.org/10.1086/321975]
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<li>
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<p class="mim-text-font">
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Richards, A., van den Maagdenberg, A. M. J. M., Jen, J. C., Kavanagh, D., Bertram, P., Spitzer, D., Liszewski, M. K., Barilla-LaBarca, M.-L., Terwindt, G. M., Kasai, Y., McLellan, M., Grand, M. G., and 25 others.
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<strong>C-terminal truncations in human 3-prime-5-prime DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.</strong>
|
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Nature Genet. 39: 1068-1070, 2007.
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[PubMed: 17660820]
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[Full Text: https://doi.org/10.1038/ng2082]
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<li>
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<p class="mim-text-font">
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Siveke, J. T., Schmid, H.
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<strong>Evidence for systemic manifestations in cerebroretinal vasculopathy. (Letter)</strong>
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Am. J. Med. Genet. 123A: 309 only, 2003.
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[PubMed: 14608656]
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[Full Text: https://doi.org/10.1002/ajmg.a.20369]
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</p>
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<li>
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Stam, A. H., Kothari, P. H., Shaikh, A., Gschwendter, A., Jen, J. C., Hodgkinson, S., Hardy, T. A., Hayes, M., Kempster, P. A., Kotschet, K. E., Bajema, I. M., van Duinen, S. G., and 25 others.
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<strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.</strong>
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Brain 139: 2909-2922, 2016.
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[PubMed: 27604306]
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[Full Text: https://doi.org/10.1093/brain/aww217]
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<li>
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<p class="mim-text-font">
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Storimans, C. W., Van Schooneveld, M. J., Oosterhuis, J. A., Bos, P. J.
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<strong>A new autosomal dominant vascular retinopathy syndrome.</strong>
|
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Europ. J. Ophthal. 1: 73-78, 1991.
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[PubMed: 1821204]
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[Full Text: https://doi.org/10.1177/112067219100100204]
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<li>
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<p class="mim-text-font">
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Terwindt, G. M., Haan, J., Ophoff, R. A., Groenen, S. M., Storimans, C. W., Lanser, J. B., Roos, R. A., Bleeker-Wagemakers, E. M., Frants, R. R., Ferrari, M. D.
|
|
<strong>Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.</strong>
|
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Brain 121: 303-316, 1998.
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[PubMed: 9549508]
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[Full Text: https://doi.org/10.1093/brain/121.2.303]
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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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Weil, S., Reifenberger, G., Dudel, C., Yousry, T. A., Schriever, S., Noachtar, S.
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<strong>Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.</strong>
|
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Neurology 53: 629-631, 1999.
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[PubMed: 10449133]
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[Full Text: https://doi.org/10.1212/wnl.53.3.629]
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Hilary J. Vernon - updated : 01/22/2021<br>Cassandra L. Kniffin - updated : 7/21/2011<br>Marla J. F. O'Neill - updated : 9/20/2007<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 8/30/2001
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Victor A. McKusick : 11/16/1989
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carol : 08/04/2022<br>carol : 08/03/2022<br>carol : 01/25/2021<br>ckniffin : 01/25/2021<br>carol : 01/22/2021<br>carol : 05/14/2019<br>carol : 04/28/2017<br>carol : 05/20/2016<br>carol : 5/19/2016<br>wwang : 7/25/2011<br>ckniffin : 7/21/2011<br>alopez : 9/21/2007<br>alopez : 9/21/2007<br>alopez : 9/20/2007<br>mgross : 3/18/2004<br>carol : 1/14/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>terry : 6/27/2002<br>cwells : 10/18/2001<br>cwells : 9/21/2001<br>terry : 8/30/2001<br>mimadm : 6/7/1995<br>carol : 1/27/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>carol : 11/16/1989
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