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Entry
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- #182410 - SNEDDON SYNDROME; SNDNS
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- OMIM
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<p>
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<span class="h4">#182410</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/182410"><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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(SNEDDON SYNDROME) OR (ADA2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3327&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/gtr/all/tests/?term=182410[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=820" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="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 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:13096" 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/182410" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238776001, 716745004<br />
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<strong>ORPHA:</strong> 820<br />
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<strong>DO:</strong> 13096<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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182410
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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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SNEDDON SYNDROME; SNDNS
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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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LIVEDO RETICULARIS AND CEREBROVASCULAR ACCIDENTS
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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">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/22/10?start=-3&limit=10&highlight=10">
|
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22q11.1
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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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Sneddon syndrome
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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/182410"> 182410 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ADA2
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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/607575"> 607575 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/182410" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/182410" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/182410" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> CARDIOVASCULAR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Vascular </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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- Cerebrovascular ischemic attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674239</a>]</span><br /> -
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Cerebrovascular hemorrhagic attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011868</a>]</span><br /> -
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Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
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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> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</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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|
|
- Livedo racemosa (usually on trunk and/or lower extremities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674235</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238772004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238772004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033260</a>]</span><br /> -
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Erythematous, irregular net-like pattern of vessels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542266</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin Histology </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intimal proliferation of small arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674237</a>]</span><br /> -
|
|
Occlusion of small arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674238</a>]</span><br />
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|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebrovascular ischemic attacks, transient (proceed secondary neurologic findings) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674233</a>]</span><br /> -
|
|
Headaches <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
|
|
Visual changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750280</a>]</span><br /> -
|
|
Hemiplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50582007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50582007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G81.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/342.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">342.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018991</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002301</a>]</span><br /> -
|
|
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 /> -
|
|
Facial palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376175</a>, <a href="https://bioportal.bioontology.org/search?q=C0015469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</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 /> -
|
|
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
|
|
Cognitive decline <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a>, <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br />
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</span>
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</div>
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</div>
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Absence of class-switched memory B cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542265</a>]</span><br /> -
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Increased transitional B cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808813</a>]</span><br />
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- Associated with serum anti-phospholipid antibodies in about 50% of patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674234</a>]</span><br />
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- Caused by mutation in the adenosine deaminase 2 gene (ADA2, <a href="/entry/607575#0010">607575.0010</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Sneddon syndrome (SNDNS) is caused by compound heterozygous mutation in the CECR1 gene (ADA2; <a href="/entry/607575">607575</a>) on chromosome 22q11.</p><p>Mutation in the ADA2 gene can also cause vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS; <a href="/entry/615688">615688</a>), which shows earlier onset.</p>
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<p>Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by <a href="#2" class="mim-tip-reference" title="Bras, J., Guerreiro, R., Santo, G. C. <strong>Mutant ADA2 in vasculopathies. (Letter)</strong> New Eng. J. Med. 371: 478-480, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25075847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25075847</a>] [<a href="https://doi.org/10.1056/NEJMc1405506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25075847">Bras et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25075847" 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>Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (<a href="#3" class="mim-tip-reference" title="Bruyn, R. P. M., van der Veen, J. P. W., Donker, A. J. M., Valk, J., Wolters, E. C. <strong>Sneddon's syndrome: case report and literature review.</strong> J. Neurol. Sci. 79: 243-253, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3612175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3612175</a>] [<a href="https://doi.org/10.1016/0022-510x(87)90232-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3612175">Bruyn et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3612175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#12" class="mim-tip-reference" title="Sneddon, I. B. <strong>Cerebro-vascular lesions and livedo reticularis.</strong> Brit. J. Derm. 77: 180-185, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14278790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14278790</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1965.tb14628.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14278790">Sneddon (1965)</a> described 6 patients (5 females, 1 male), varying in age from 20 to 48 years, who had association of livedo reticularis with cerebrovascular accident. <a href="#9" class="mim-tip-reference" title="Rebollo, M., Val, J. F., Garijo, F., Quintana, F., Berciano, J. <strong>Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome): clinical, radiological and pathological features in eight cases.</strong> Brain 106: 965-979, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6652469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6652469</a>] [<a href="https://doi.org/10.1093/brain/106.4.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6652469">Rebollo et al. (1983)</a> reported 8 patients and concluded that the disorder was inherited as an autosomal dominant in 3 of them. Multiple occlusions and medium-sized arteries were demonstrated by cerebral and hand arteriograms. Digital artery biopsies showed intimal hyperplasia in 7 cases and recanalized thrombosis in 1. <a href="#9" class="mim-tip-reference" title="Rebollo, M., Val, J. F., Garijo, F., Quintana, F., Berciano, J. <strong>Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome): clinical, radiological and pathological features in eight cases.</strong> Brain 106: 965-979, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6652469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6652469</a>] [<a href="https://doi.org/10.1093/brain/106.4.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6652469">Rebollo et al. (1983)</a> concluded that the Sneddon syndrome is a genetic progressive arteriopathy, occlusive and noninflammatory, involving medium-sized vessels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14278790+6652469" 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="#11" class="mim-tip-reference" title="Scott, I. A., Boyle, R. S. <strong>Sneddon's syndrome.</strong> Aust. New Zeal. J. Med. 16: 799-802, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3471198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3471198</a>] [<a href="https://doi.org/10.1111/j.1445-5994.1986.tb00041.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3471198">Scott and Boyle (1986)</a> reported 2 sibs with the disorder. The 24-year-old proposita had generalized livedo reticularis and progressive intellectual decline. Brain imaging showed multifocal areas of cerebral infarction, occlusive disease of major vessels, and arteriovenous malformation, and moya-moya type anastomoses. <a href="#1" class="mim-tip-reference" title="Berciano, J. <strong>Sneddon syndrome: another mendelian etiology of stroke. (Letter)</strong> Ann. Neurol. 24: 586-587, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3239961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3239961</a>] [<a href="https://doi.org/10.1002/ana.410240422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3239961">Berciano (1988)</a> pointed out that the phenotype may be restricted to an unperceived livedo reticularis and that detailed investigation of relatives had rarely been done or commented on in published reports; hence, the role of genetic factors in this disorder may have escaped attention. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3239961+3471198" 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="#14" class="mim-tip-reference" title="Zelger, B., Sepp, N., Stockhammer, G., Dosch, E., Hilty, E., Ofner, D., Aichner, F., Fritsch, P. O. <strong>Sneddon's syndrome: a long-term follow-up of 21 patients.</strong> Arch. Derm. 129: 437-447, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8466214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8466214</a>] [<a href="https://doi.org/10.1001/archderm.129.4.437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8466214">Zelger et al. (1993)</a> provided long-term follow-up of 21 patients. They specifically commented that family history was negative in all of them; in the case of 9 of the 21 patients, first- and second-degree relatives had risk factors such as precocious vascular disorders (peripheral occlusive vascular disease, myocardial infarction, or ischemic strokes before age 60 years), but in these patients disease course and intensity were no different from those in the remaining patients. <a href="#14" class="mim-tip-reference" title="Zelger, B., Sepp, N., Stockhammer, G., Dosch, E., Hilty, E., Ofner, D., Aichner, F., Fritsch, P. O. <strong>Sneddon's syndrome: a long-term follow-up of 21 patients.</strong> Arch. Derm. 129: 437-447, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8466214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8466214</a>] [<a href="https://doi.org/10.1001/archderm.129.4.437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8466214">Zelger et al. (1993)</a> considered the disorder to be vasculitic in nature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8466214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kalashnikova, L. A., Nasonov, E. L., Borisenko, V. V., Usman, V. B., Prudnikova, L. Z., Kovaljov, V. U., Kushekbaeva, A. F. <strong>Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies.</strong> Clin. Exp. Rheum. 9: 357-361, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1934683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1934683</a>]" pmid="1934683">Kalashnikova et al. (1991)</a> investigated the relationship of Sneddon syndrome to the antiphospholipid syndrome (<a href="/entry/107320">107320</a>), which in turn is related to systemic lupus erythematosus and other autoimmune disorders that tend to aggregate in families, but provided no genetic information. <a href="#8" class="mim-tip-reference" title="Pettee, A. D., Wasserman, B. A., Adams, N. L., McMullen, W., Smith, H. R., Woods, S. L., Ratnoff, O. D. <strong>Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers.</strong> Neurology 44: 399-405, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145905</a>] [<a href="https://doi.org/10.1212/wnl.44.3_part_1.399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8145905">Pettee et al. (1994)</a> presented the clinical, hematologic, and radiographic findings in 2 brothers with Sneddon syndrome associated with antiphospholipid antibodies. One brother had anticardiolipin antibody and the other had lupus anticoagulant, which was detected only upon repeated blood testing. <a href="#8" class="mim-tip-reference" title="Pettee, A. D., Wasserman, B. A., Adams, N. L., McMullen, W., Smith, H. R., Woods, S. L., Ratnoff, O. D. <strong>Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers.</strong> Neurology 44: 399-405, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145905</a>] [<a href="https://doi.org/10.1212/wnl.44.3_part_1.399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8145905">Pettee et al. (1994)</a> suggested that in familial cases of antiphospholipid antibody syndrome, inherited predisposition is involved in disease pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1934683+8145905" 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="Hilton, D. A., Footitt, D. <strong>Neuropathological findings in Sneddon's syndrome.</strong> Neurology 60: 1181-1182, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682330</a>] [<a href="https://doi.org/10.1212/01.wnl.0000055931.66009.d3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12682330">Hilton and Footitt (2003)</a> described the neuropathologic findings in an isolated case of Sneddon syndrome in a 64-year-old man who died of myocardial infarction. Several months before death, the man had suffered several strokes, and physical exam showed 'florid' livedo reticularis affecting his trunk, arms, and legs. He was also found to have a lupus anticoagulant. Histologic examination showed multiple small, predominantly cortical, infarcts, with focal hyperplasia and fibrotic occlusion of arterial vessels in the superficial white matter, cortex, and leptomeninges. Occasional arterial thrombi were seen. The authors concluded that Sneddon syndrome is caused by a noninflammatory arteriopathy affecting superficial cerebral vessels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12682330" 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="Mascarenhas, R., Santo, G., Goncalo, M., Ferro, M. A., Tellechea, O., Figueiredo, A. <strong>Familial Sneddon's syndrome.</strong> Europ. J. Derm. 13: 283-287, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12804991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12804991</a>]" pmid="12804991">Mascarenhas et al. (2003)</a> reported 3 Portuguese brothers with Sneddon syndrome. Two presented with ischemic strokes at 28 and 42 years of age, and the third with hemorrhagic strokes at ages 23 and 34 years. A 32-year-old sister was examined, but had no evidence of cerebrovascular events. All patients had normal cerebral angiography. All patients also had persistent violaceous livedo reticularis, primarily on the lower limbs and trunk, that began in the teenage years. Skin biopsy of the reticular pattern showed partial endothelial detachment in dermohypodermic blood vessels in only 1 patient. The 3 brothers had atrophic scars on the lower limbs from seasonal ulceration. A maternal aunt and uncle reportedly had livedo reticularis or livedoid vasculitis. This family had previously been reported by <a href="#10" class="mim-tip-reference" title="Santo, G. C., Mascarenhas, R., Geraldo, A., Goncalo, M., Ferro, M. A. <strong>Familial Sneddon's syndrome: clinical, dermatologic, hematologic and radiographic findings. (Abstract)</strong> Cerebrovasc. Dis. 13 (suppl. 3): 1-100, 2002. Note: Abstract 215, 11th European Stroke Conference, Geneva, May-June, 2002."None>Santo et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12804991" 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="Legierse, C. M., Canninga-Van Dijk, M. R., Bruijnzeel-Koomen, C. A. F. M., Kuck-Koot, V. C. M. <strong>Sneddon syndrome and the diagnostic value of skin biopsies-three young patients with intracerebral lesions and livedo racemosa.</strong> Europ. J. Derm. 18: 322-328, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474464</a>] [<a href="https://doi.org/10.1684/ejd.2008.0397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474464">Legierse et al. (2008)</a> reported 3 unrelated patients with a clinical diagnosis of Sneddon syndrome. All presented in their twenties with focal neurologic signs resulting from intracerebral ischemic attacks. Neurologic symptoms included hemianopsia, headache, hemiplegia, facial paralysis, and dysarthria. All developed livedo racemosa within a few years after onset of neurologic signs and symptoms. Two patients developed hypertension associated with renal dysfunction thought to result from thickened renal vessels. Skin biopsy of 2 patients showed the classic findings of Sneddon syndrome, with small arteries showing intimal proliferation, thickened walls, and occasional occlusion. Immunostaining was positive for smooth muscle cells in the vessels. Skin biopsy in the third patient showed only a few slightly dilated small vessels, but otherwise was normal. <a href="#6" class="mim-tip-reference" title="Legierse, C. M., Canninga-Van Dijk, M. R., Bruijnzeel-Koomen, C. A. F. M., Kuck-Koot, V. C. M. <strong>Sneddon syndrome and the diagnostic value of skin biopsies-three young patients with intracerebral lesions and livedo racemosa.</strong> Europ. J. Derm. 18: 322-328, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474464</a>] [<a href="https://doi.org/10.1684/ejd.2008.0397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474464">Legierse et al. (2008)</a> noted the difficulty of defining the diagnostic criteria of Sneddon syndrome and stated that although there is no gold standard for the diagnosis of this disorder, skin biopsy should be performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of SNDNS in the family reported by <a href="#7" class="mim-tip-reference" title="Mascarenhas, R., Santo, G., Goncalo, M., Ferro, M. A., Tellechea, O., Figueiredo, A. <strong>Familial Sneddon's syndrome.</strong> Europ. J. Derm. 13: 283-287, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12804991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12804991</a>]" pmid="12804991">Mascarenhas et al. (2003)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12804991" 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 3 Portuguese sibs with Sneddon syndrome, previously reported by <a href="#7" class="mim-tip-reference" title="Mascarenhas, R., Santo, G., Goncalo, M., Ferro, M. A., Tellechea, O., Figueiredo, A. <strong>Familial Sneddon's syndrome.</strong> Europ. J. Derm. 13: 283-287, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12804991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12804991</a>]" pmid="12804991">Mascarenhas et al. (2003)</a>, <a href="#2" class="mim-tip-reference" title="Bras, J., Guerreiro, R., Santo, G. C. <strong>Mutant ADA2 in vasculopathies. (Letter)</strong> New Eng. J. Med. 371: 478-480, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25075847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25075847</a>] [<a href="https://doi.org/10.1056/NEJMc1405506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25075847">Bras et al. (2014)</a> identified compound heterozygous missense mutations in the CECR1 gene (T119A, <a href="/entry/607575#0010">607575.0010</a> and G142S, <a href="/entry/607575#0011">607575.0011</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12804991+25075847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 34-year-old woman with Diamond-Blackfan anemia, widespread livedo, early-onset stroke, hypogammaglobulinemia, and B-lymphocyte abnormalities, <a href="#13" class="mim-tip-reference" title="Tull, T. J., Martin, B., Spencer, J., Sangle, S., Chua, S., McGrath, J. A., D'Cruz, D. P., McGibbon, D. H. <strong>Sneddon syndrome associated with two novel ADA2 gene mutations.</strong> Rheumatology 59: 1448-1450, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31652311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31652311</a>] [<a href="https://doi.org/10.1093/rheumatology/kez446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31652311">Tull et al. (2020)</a> sequenced the ADA2 gene and identified compound heterozygosity for an in-frame deletion (<a href="/entry/607575#0012">607575.0012</a>) and a missense mutation (P409S; <a href="/entry/607575#0013">607575.0013</a>). One mutation was inherited from her mother and the other arose de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31652311" 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>Sneddon syndrome has an incidence of about 4 per million per year. It is more common in women and usually presents in young adulthood (<a href="#6" class="mim-tip-reference" title="Legierse, C. M., Canninga-Van Dijk, M. R., Bruijnzeel-Koomen, C. A. F. M., Kuck-Koot, V. C. M. <strong>Sneddon syndrome and the diagnostic value of skin biopsies-three young patients with intracerebral lesions and livedo racemosa.</strong> Europ. J. Derm. 18: 322-328, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474464</a>] [<a href="https://doi.org/10.1684/ejd.2008.0397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18474464">Legierse et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474464" 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="Bruyn, R. P. M., van der Veen, J. P. W., Donker, A. J. M., Valk, J., Wolters, E. C. <strong>Sneddon's syndrome: case report and literature review.</strong> J. Neurol. Sci. 79: 243-253, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3612175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3612175</a>] [<a href="https://doi.org/10.1016/0022-510x(87)90232-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3612175">Bruyn et al. (1987)</a> stated that in the European literature the term 'livedo reticularis' is used for the cutaneous vascular phenomenon that disappears after the skin is warmed, whereas 'livedo racemosa' is used for the findings that persist after warming. On the other hand, in the American literature, reticulated skin coloration that disappears after warming in infants and young adults is referred to as 'cutis marmorata,' reserving the term 'livedo reticularis' for the permanent change. It should be noted, however, that Sneddon, a British dermatologist, used the term 'livedo reticularis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3612175" 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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Berciano, J.
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<strong>Sneddon syndrome: another mendelian etiology of stroke. (Letter)</strong>
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Ann. Neurol. 24: 586-587, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3239961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3239961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3239961" 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/ana.410240422" target="_blank">Full Text</a>]
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Bras, J., Guerreiro, R., Santo, G. C.
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<strong>Mutant ADA2 in vasculopathies. (Letter)</strong>
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New Eng. J. Med. 371: 478-480, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25075847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25075847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25075847" 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/10.1056/NEJMc1405506" target="_blank">Full Text</a>]
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Bruyn, R. P. M., van der Veen, J. P. W., Donker, A. J. M., Valk, J., Wolters, E. C.
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<strong>Sneddon's syndrome: case report and literature review.</strong>
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J. Neurol. Sci. 79: 243-253, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3612175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3612175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3612175" 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/10.1016/0022-510x(87)90232-2" target="_blank">Full Text</a>]
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Hilton, D. A., Footitt, D.
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<strong>Neuropathological findings in Sneddon's syndrome.</strong>
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Neurology 60: 1181-1182, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12682330" 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/10.1212/01.wnl.0000055931.66009.d3" target="_blank">Full Text</a>]
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Kalashnikova, L. A., Nasonov, E. L., Borisenko, V. V., Usman, V. B., Prudnikova, L. Z., Kovaljov, V. U., Kushekbaeva, A. F.
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<strong>Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies.</strong>
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Clin. Exp. Rheum. 9: 357-361, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1934683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1934683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1934683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Sneddon syndrome and the diagnostic value of skin biopsies-three young patients with intracerebral lesions and livedo racemosa.</strong>
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Europ. J. Derm. 18: 322-328, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18474464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18474464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18474464" 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/10.1684/ejd.2008.0397" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Mascarenhas2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mascarenhas, R., Santo, G., Goncalo, M., Ferro, M. A., Tellechea, O., Figueiredo, A.
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<strong>Familial Sneddon's syndrome.</strong>
|
|
Europ. J. Derm. 13: 283-287, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12804991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12804991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12804991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Pettee1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pettee, A. D., Wasserman, B. A., Adams, N. L., McMullen, W., Smith, H. R., Woods, S. L., Ratnoff, O. D.
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|
<strong>Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers.</strong>
|
|
Neurology 44: 399-405, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8145905" 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.44.3_part_1.399" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Rebollo1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rebollo, M., Val, J. F., Garijo, F., Quintana, F., Berciano, J.
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|
<strong>Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome): clinical, radiological and pathological features in eight cases.</strong>
|
|
Brain 106: 965-979, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6652469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6652469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6652469" 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/106.4.965" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Santo2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Santo, G. C., Mascarenhas, R., Geraldo, A., Goncalo, M., Ferro, M. A.
|
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<strong>Familial Sneddon's syndrome: clinical, dermatologic, hematologic and radiographic findings. (Abstract)</strong>
|
|
Cerebrovasc. Dis. 13 (suppl. 3): 1-100, 2002. Note: Abstract 215, 11th European Stroke Conference, Geneva, May-June, 2002.
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Scott1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scott, I. A., Boyle, R. S.
|
|
<strong>Sneddon's syndrome.</strong>
|
|
Aust. New Zeal. J. Med. 16: 799-802, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3471198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3471198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3471198" 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.1445-5994.1986.tb00041.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Sneddon1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sneddon, I. B.
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<strong>Cerebro-vascular lesions and livedo reticularis.</strong>
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Brit. J. Derm. 77: 180-185, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14278790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14278790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14278790" 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.1365-2133.1965.tb14628.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Tull2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tull, T. J., Martin, B., Spencer, J., Sangle, S., Chua, S., McGrath, J. A., D'Cruz, D. P., McGibbon, D. H.
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<strong>Sneddon syndrome associated with two novel ADA2 gene mutations.</strong>
|
|
Rheumatology 59: 1448-1450, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31652311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31652311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31652311" 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/rheumatology/kez446" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Zelger1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zelger, B., Sepp, N., Stockhammer, G., Dosch, E., Hilty, E., Ofner, D., Aichner, F., Fritsch, P. O.
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<strong>Sneddon's syndrome: a long-term follow-up of 21 patients.</strong>
|
|
Arch. Derm. 129: 437-447, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8466214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8466214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8466214" 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/10.1001/archderm.129.4.437" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/14/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/4/2014<br>Cassandra L. Kniffin - updated : 3/11/2009<br>Cassandra L. Kniffin - reorganized : 9/24/2003
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/13/1989
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 11/17/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/24/2022<br>alopez : 06/14/2021<br>carol : 04/04/2019<br>carol : 04/03/2019<br>carol : 11/28/2016<br>carol : 08/06/2014<br>mcolton : 8/6/2014<br>ckniffin : 8/4/2014<br>terry : 4/12/2012<br>wwang : 3/19/2009<br>ckniffin : 3/11/2009<br>mgross : 3/17/2004<br>carol : 9/24/2003<br>ckniffin : 9/15/2003<br>dkim : 7/24/1998<br>terry : 7/7/1997<br>mimadm : 3/25/1995<br>jason : 6/27/1994<br>carol : 6/3/1993<br>carol : 3/26/1992<br>supermim : 3/16/1992<br>carol : 9/24/1991
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 182410
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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SNEDDON SYNDROME; SNDNS
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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LIVEDO RETICULARIS AND CEREBROVASCULAR ACCIDENTS
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238776001, 716745004;
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<strong>ORPHA:</strong> 820;
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<strong>DO:</strong> 13096;
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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22q11.1
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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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Sneddon syndrome
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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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182410
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
ADA2
|
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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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607575
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Sneddon syndrome (SNDNS) is caused by compound heterozygous mutation in the CECR1 gene (ADA2; 607575) on chromosome 22q11.</p><p>Mutation in the ADA2 gene can also cause vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS; 615688), which shows earlier onset.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). </p><p>Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sneddon (1965) described 6 patients (5 females, 1 male), varying in age from 20 to 48 years, who had association of livedo reticularis with cerebrovascular accident. Rebollo et al. (1983) reported 8 patients and concluded that the disorder was inherited as an autosomal dominant in 3 of them. Multiple occlusions and medium-sized arteries were demonstrated by cerebral and hand arteriograms. Digital artery biopsies showed intimal hyperplasia in 7 cases and recanalized thrombosis in 1. Rebollo et al. (1983) concluded that the Sneddon syndrome is a genetic progressive arteriopathy, occlusive and noninflammatory, involving medium-sized vessels. </p><p>Scott and Boyle (1986) reported 2 sibs with the disorder. The 24-year-old proposita had generalized livedo reticularis and progressive intellectual decline. Brain imaging showed multifocal areas of cerebral infarction, occlusive disease of major vessels, and arteriovenous malformation, and moya-moya type anastomoses. Berciano (1988) pointed out that the phenotype may be restricted to an unperceived livedo reticularis and that detailed investigation of relatives had rarely been done or commented on in published reports; hence, the role of genetic factors in this disorder may have escaped attention. </p><p>Zelger et al. (1993) provided long-term follow-up of 21 patients. They specifically commented that family history was negative in all of them; in the case of 9 of the 21 patients, first- and second-degree relatives had risk factors such as precocious vascular disorders (peripheral occlusive vascular disease, myocardial infarction, or ischemic strokes before age 60 years), but in these patients disease course and intensity were no different from those in the remaining patients. Zelger et al. (1993) considered the disorder to be vasculitic in nature. </p><p>Kalashnikova et al. (1991) investigated the relationship of Sneddon syndrome to the antiphospholipid syndrome (107320), which in turn is related to systemic lupus erythematosus and other autoimmune disorders that tend to aggregate in families, but provided no genetic information. Pettee et al. (1994) presented the clinical, hematologic, and radiographic findings in 2 brothers with Sneddon syndrome associated with antiphospholipid antibodies. One brother had anticardiolipin antibody and the other had lupus anticoagulant, which was detected only upon repeated blood testing. Pettee et al. (1994) suggested that in familial cases of antiphospholipid antibody syndrome, inherited predisposition is involved in disease pathogenesis. </p><p>Hilton and Footitt (2003) described the neuropathologic findings in an isolated case of Sneddon syndrome in a 64-year-old man who died of myocardial infarction. Several months before death, the man had suffered several strokes, and physical exam showed 'florid' livedo reticularis affecting his trunk, arms, and legs. He was also found to have a lupus anticoagulant. Histologic examination showed multiple small, predominantly cortical, infarcts, with focal hyperplasia and fibrotic occlusion of arterial vessels in the superficial white matter, cortex, and leptomeninges. Occasional arterial thrombi were seen. The authors concluded that Sneddon syndrome is caused by a noninflammatory arteriopathy affecting superficial cerebral vessels. </p><p>Mascarenhas et al. (2003) reported 3 Portuguese brothers with Sneddon syndrome. Two presented with ischemic strokes at 28 and 42 years of age, and the third with hemorrhagic strokes at ages 23 and 34 years. A 32-year-old sister was examined, but had no evidence of cerebrovascular events. All patients had normal cerebral angiography. All patients also had persistent violaceous livedo reticularis, primarily on the lower limbs and trunk, that began in the teenage years. Skin biopsy of the reticular pattern showed partial endothelial detachment in dermohypodermic blood vessels in only 1 patient. The 3 brothers had atrophic scars on the lower limbs from seasonal ulceration. A maternal aunt and uncle reportedly had livedo reticularis or livedoid vasculitis. This family had previously been reported by Santo et al. (2002). </p><p>Legierse et al. (2008) reported 3 unrelated patients with a clinical diagnosis of Sneddon syndrome. All presented in their twenties with focal neurologic signs resulting from intracerebral ischemic attacks. Neurologic symptoms included hemianopsia, headache, hemiplegia, facial paralysis, and dysarthria. All developed livedo racemosa within a few years after onset of neurologic signs and symptoms. Two patients developed hypertension associated with renal dysfunction thought to result from thickened renal vessels. Skin biopsy of 2 patients showed the classic findings of Sneddon syndrome, with small arteries showing intimal proliferation, thickened walls, and occasional occlusion. Immunostaining was positive for smooth muscle cells in the vessels. Skin biopsy in the third patient showed only a few slightly dilated small vessels, but otherwise was normal. Legierse et al. (2008) noted the difficulty of defining the diagnostic criteria of Sneddon syndrome and stated that although there is no gold standard for the diagnosis of this disorder, skin biopsy should be performed. </p>
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<p>The transmission pattern of SNDNS in the family reported by Mascarenhas et al. (2003) was consistent with autosomal recessive inheritance. </p>
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<p>In 3 Portuguese sibs with Sneddon syndrome, previously reported by Mascarenhas et al. (2003), Bras et al. (2014) identified compound heterozygous missense mutations in the CECR1 gene (T119A, 607575.0010 and G142S, 607575.0011). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants were not performed. </p><p>In a 34-year-old woman with Diamond-Blackfan anemia, widespread livedo, early-onset stroke, hypogammaglobulinemia, and B-lymphocyte abnormalities, Tull et al. (2020) sequenced the ADA2 gene and identified compound heterozygosity for an in-frame deletion (607575.0012) and a missense mutation (P409S; 607575.0013). One mutation was inherited from her mother and the other arose de novo. </p>
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<p>Sneddon syndrome has an incidence of about 4 per million per year. It is more common in women and usually presents in young adulthood (Legierse et al., 2008). </p>
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<p>Bruyn et al. (1987) stated that in the European literature the term 'livedo reticularis' is used for the cutaneous vascular phenomenon that disappears after the skin is warmed, whereas 'livedo racemosa' is used for the findings that persist after warming. On the other hand, in the American literature, reticulated skin coloration that disappears after warming in infants and young adults is referred to as 'cutis marmorata,' reserving the term 'livedo reticularis' for the permanent change. It should be noted, however, that Sneddon, a British dermatologist, used the term 'livedo reticularis.' </p>
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<strong>REFERENCES</strong>
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Berciano, J.
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<strong>Sneddon syndrome: another mendelian etiology of stroke. (Letter)</strong>
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Ann. Neurol. 24: 586-587, 1988.
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[PubMed: 3239961]
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[Full Text: https://doi.org/10.1002/ana.410240422]
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Bras, J., Guerreiro, R., Santo, G. C.
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<strong>Mutant ADA2 in vasculopathies. (Letter)</strong>
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New Eng. J. Med. 371: 478-480, 2014.
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[PubMed: 25075847]
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[Full Text: https://doi.org/10.1056/NEJMc1405506]
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Bruyn, R. P. M., van der Veen, J. P. W., Donker, A. J. M., Valk, J., Wolters, E. C.
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<strong>Sneddon's syndrome: case report and literature review.</strong>
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J. Neurol. Sci. 79: 243-253, 1987.
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[PubMed: 3612175]
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[Full Text: https://doi.org/10.1016/0022-510x(87)90232-2]
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Hilton, D. A., Footitt, D.
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<strong>Neuropathological findings in Sneddon's syndrome.</strong>
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Neurology 60: 1181-1182, 2003.
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[PubMed: 12682330]
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[Full Text: https://doi.org/10.1212/01.wnl.0000055931.66009.d3]
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Kalashnikova, L. A., Nasonov, E. L., Borisenko, V. V., Usman, V. B., Prudnikova, L. Z., Kovaljov, V. U., Kushekbaeva, A. F.
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<strong>Sneddon's syndrome: cardiac pathology and antiphospholipid antibodies.</strong>
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Clin. Exp. Rheum. 9: 357-361, 1991.
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[PubMed: 1934683]
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Legierse, C. M., Canninga-Van Dijk, M. R., Bruijnzeel-Koomen, C. A. F. M., Kuck-Koot, V. C. M.
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<strong>Sneddon syndrome and the diagnostic value of skin biopsies-three young patients with intracerebral lesions and livedo racemosa.</strong>
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Europ. J. Derm. 18: 322-328, 2008.
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[PubMed: 18474464]
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[Full Text: https://doi.org/10.1684/ejd.2008.0397]
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Mascarenhas, R., Santo, G., Goncalo, M., Ferro, M. A., Tellechea, O., Figueiredo, A.
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<strong>Familial Sneddon's syndrome.</strong>
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Europ. J. Derm. 13: 283-287, 2003.
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[PubMed: 12804991]
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Pettee, A. D., Wasserman, B. A., Adams, N. L., McMullen, W., Smith, H. R., Woods, S. L., Ratnoff, O. D.
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<strong>Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers.</strong>
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Neurology 44: 399-405, 1994.
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[PubMed: 8145905]
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[Full Text: https://doi.org/10.1212/wnl.44.3_part_1.399]
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Rebollo, M., Val, J. F., Garijo, F., Quintana, F., Berciano, J.
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<strong>Livedo reticularis and cerebrovascular lesions (Sneddon's syndrome): clinical, radiological and pathological features in eight cases.</strong>
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Brain 106: 965-979, 1983.
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[PubMed: 6652469]
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[Full Text: https://doi.org/10.1093/brain/106.4.965]
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Santo, G. C., Mascarenhas, R., Geraldo, A., Goncalo, M., Ferro, M. A.
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<strong>Familial Sneddon's syndrome: clinical, dermatologic, hematologic and radiographic findings. (Abstract)</strong>
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Cerebrovasc. Dis. 13 (suppl. 3): 1-100, 2002. Note: Abstract 215, 11th European Stroke Conference, Geneva, May-June, 2002.
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Scott, I. A., Boyle, R. S.
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<strong>Sneddon's syndrome.</strong>
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Aust. New Zeal. J. Med. 16: 799-802, 1986.
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[PubMed: 3471198]
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[Full Text: https://doi.org/10.1111/j.1445-5994.1986.tb00041.x]
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Sneddon, I. B.
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<strong>Cerebro-vascular lesions and livedo reticularis.</strong>
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Brit. J. Derm. 77: 180-185, 1965.
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[PubMed: 14278790]
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[Full Text: https://doi.org/10.1111/j.1365-2133.1965.tb14628.x]
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Tull, T. J., Martin, B., Spencer, J., Sangle, S., Chua, S., McGrath, J. A., D'Cruz, D. P., McGibbon, D. H.
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<strong>Sneddon syndrome associated with two novel ADA2 gene mutations.</strong>
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Rheumatology 59: 1448-1450, 2020.
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[PubMed: 31652311]
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[Full Text: https://doi.org/10.1093/rheumatology/kez446]
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Zelger, B., Sepp, N., Stockhammer, G., Dosch, E., Hilty, E., Ofner, D., Aichner, F., Fritsch, P. O.
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<strong>Sneddon's syndrome: a long-term follow-up of 21 patients.</strong>
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Arch. Derm. 129: 437-447, 1993.
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[PubMed: 8466214]
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[Full Text: https://doi.org/10.1001/archderm.129.4.437]
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Marla J. F. O'Neill - updated : 06/14/2021<br>Cassandra L. Kniffin - updated : 8/4/2014<br>Cassandra L. Kniffin - updated : 3/11/2009<br>Cassandra L. Kniffin - reorganized : 9/24/2003
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