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<title>
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Entry
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- #608033 - ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<span class="h4">#608033</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<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/608033"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS610551"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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=(ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED) OR (RANBP2)" 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=11806&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8307" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608033[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=88619" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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>ORPHA:</strong> 88619<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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608033
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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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ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO, 1; ANE1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/2/549?start=-3&limit=10&highlight=549">
|
|
2q13
|
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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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{Encephalopathy, acute, infection-induced, 3, susceptibility to}
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608033"> 608033 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<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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RANBP2
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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/601181"> 601181 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/608033" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS610551" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/608033" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608033" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Altered breathing patterns during acute episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807746</a>]</span><br />
|
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|
|
</span>
|
|
</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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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Encephalopathy, acute, sudden-onset after febrile illness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842656</a>]</span><br /> -
|
|
Coma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
|
|
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 /> -
|
|
Extensor posturing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842657</a>]</span><br /> -
|
|
Gaze deviation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842658</a>]</span><br /> -
|
|
Hypertonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
|
|
Altered breathing patterns <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842659</a>]</span><br /> -
|
|
Variable outcome after acute illness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842661</a>]</span><br /> -
|
|
Spastic quadriplegia, residual mild-to-severe (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842662</a>]</span><br /> -
|
|
Mental retardation, residual mild-to-severe (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842663</a>]</span><br /> -
|
|
T2-weighted MRI shows hyperintensities in the thalamus, basal ganglia, and brainstem during acute illness (may later resolve) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842665</a>]</span><br /> -
|
|
External capsule and claustrum may be involved <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750724</a>]</span><br /> -
|
|
Cellular necrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6574001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6574001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027540</a>]</span><br /> -
|
|
Gliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359580009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359580009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81415000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81415000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887640</a>, <a href="https://bioportal.bioontology.org/search?q=C0017639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002446</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>]</span><br /> -
|
|
Hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50960005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50960005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131148009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131148009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R58</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/459.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">459.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019080</a>]</span><br /> -
|
|
Brain edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2032001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2032001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006114</a>, <a href="https://bioportal.bioontology.org/search?q=C1527311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527311</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</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">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Usually precipitated by viral infection (influenza A, influenza B, parainfluenza II, and Mycoplasma pneumoniae) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750725</a>]</span><br /> -
|
|
Often an infecting organism cannot be identified <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842668</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased CSF protein during acute illness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842669</a>]</span><br />
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|
|
|
</span>
|
|
</div>
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|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually in infancy or early childhood (9 months to 6 years)<br /> -
|
|
Onset in adolescence or adulthood has been reported<br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Half (50%) of affected patients have a recurrent episode with worse outcome<br /> -
|
|
Many patients recover normally<br /> -
|
|
May be fatal<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ran-binding protein 2 gene (RANBP2, <a href="/entry/601181#0001">601181.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Encephalopathy/encephalitis, acute, infection-induced
|
|
- <a href="/phenotypicSeries/PS610551">PS610551</a>
|
|
- 12 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/627?start=-3&limit=10&highlight=627"> 1p32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614212"> {Encephalopathy, acute, infection-induced, 4, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614212"> 614212 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600650"> CPT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600650"> 600650 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/549?start=-3&limit=10&highlight=549"> 2q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608033"> {Encephalopathy, acute, infection-induced, 3, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608033"> 608033 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601181"> RANBP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601181"> 601181 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/716?start=-3&limit=10&highlight=716"> 3q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619441"> {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619441"> 619441 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607024"> DBR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607024"> 607024 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/723?start=-3&limit=10&highlight=723"> 4q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613002"> {Immunodeficiency 83, susceptibility to viral infections} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613002"> 613002 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603029"> TLR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603029"> 603029 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/586?start=-3&limit=10&highlight=586"> 9q34.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618426"> {Encephalopathy, acute, infection-induced, susceptibility to, 9} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618426"> 618426 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114350"> NUP214 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114350"> 114350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/27?start=-3&limit=10&highlight=27"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620461"> {Encephalopathy, acute, infection-induced, susceptibility to, 12} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620461"> 620461 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173320"> RNH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173320"> 173320 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/676?start=-3&limit=10&highlight=676"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610551"> {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610551"> 610551 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608204"> UNC93B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608204"> 608204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/581?start=-3&limit=10&highlight=581"> 12q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617900"> {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617900"> 617900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> TBK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> 604834 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/146?start=-3&limit=10&highlight=146"> 13q14.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619396"> {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619396"> 619396 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced encephalopathy-3 (IIAE3) is caused by heterozygous mutation in the RANBP2 gene (<a href="/entry/601181">601181</a>) on chromosome 2q12.</p><p>For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see <a href="/entry/610551">610551</a>.</p>
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<p><a href="#5" class="mim-tip-reference" title="Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S. <strong>Autosomal dominant acute necrotizing encephalopathy.</strong> Neurology 61: 226-230, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874403</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073544.28775.1a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874403">Neilson et al. (2003)</a> reported a large family in which 11 individuals over 3 generations were affected with an autosomal dominant form of acute necrotizing encephalopathy (ADANE) following febrile illnesses. The family had originally been reported by <a href="#1" class="mim-tip-reference" title="Eiben, R. M., Dooley, J. P., Stowe, S. M. <strong>Subacute necrotizing encephalopathy in infancy.</strong> Neurology 15: 293 only, 1965."None>Eiben et al. (1965)</a>. The episodes characteristically occurred in early childhood (most before age 4 years) after a febrile illness. Affected members developed vomiting, seizures, spasticity, rigidity or abnormal posturing, altered mental status, and altered breathing patterns, usually leading to coma. Two patients died, 5 had residual neurologic impairment, and 4 had full recovery. Several affected members had residual weakness, seizures, gait abnormalities, speech disturbance, mental retardation, and mood disorders. Postmortem examination of 2 patients showed brain swelling and hemorrhagic lesions in the thalamus, putamen, and brainstem, as well as pallor of the neurons and myelinated tracts. Analysis of muscle respiration showed loose coupling of oxidative phosphorylation. <a href="#5" class="mim-tip-reference" title="Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S. <strong>Autosomal dominant acute necrotizing encephalopathy.</strong> Neurology 61: 226-230, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874403</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073544.28775.1a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874403">Neilson et al. (2003)</a> distinguished the disorder from Leigh syndrome (<a href="/entry/256000">256000</a>), which has a chronic course, but suggested that the pathologic mechanism in this disorder may also involve abnormalities in oxidative phosphorylation. Disease penetrance was estimated at 40%, and recurrent episodes occurred in half of affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874403" 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="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. <strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong> Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118815">Neilson et al. (2009)</a> reported 12 additional families with acute necrotizing encephalopathy (ANE). Specific infectious agents identified included influenza A, influenza, B, parainfluenza II, and Mycoplasma pneumoniae. Patients had a high incidence of seizures (59%), coma (100%), and CSF protein elevation (85%). Three patients had later onset at ages 12, 14, and 37 years, respectively. MRI changes showed variability, with classic involvement of the thalamus, brainstem, and pons, as well as the external capsule and claustrum (19 of 26 episodes), medial temporal lobe and limbic structures including amygdala, hippocampus, or medial temporal lobe (19 of 26), and spinal cord (3 of 26 episodes). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gika, A. D., Rich, P., Gupta, S., Neilson, D. E., Clarke, A. <strong>Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.</strong> Dev. Med. Child Neurol. 52: 99-102, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19811512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19811512</a>] [<a href="https://doi.org/10.1111/j.1469-8749.2009.03405.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19811512">Gika et al. (2010)</a> reported the clinical features of 1 of the patients reported by <a href="#4" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. <strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong> Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118815">Neilson et al. (2009)</a> who carried a heterozygous mutation in the RANBP2 gene (T585M; <a href="/entry/601181#0001">601181.0001</a>). This Caucasian girl presented at age 9 months with encephalopathy and seizures following a febrile illness. Brain MRI showed T2 signals in the thalami and the pons. She required ventilation for 10 days, but then made a slow and complete recovery both clinically and on brain imaging. At age 2 years, she presented with acute onset of right-sided sixth nerve palsy after a viral infection; brain CT was normal and the palsy resolved. She presented again at age 9 years with vomiting and decreased consciousness following a 3-day history of fever associated with influenza A. Her condition deteriorated and she progressed into a coma with hypotonia lasting several months. Brain MRI showed T2 signals similar to, but more extensive than, those seen on her first presentation. Two years after this illness, she was nonambulant and severely affected both neurologically and cognitively. The patient's mother, who also carried the mutation, had an episode of 'encephalitis/polyneuritis' at age 19 years following a viral infection and had a foot drop ever since. Neither of the mother's parents carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19811512+19118815" 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="#3" class="mim-tip-reference" title="Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H. <strong>Dominant encephalopathy mimicking mitochondrial disease.</strong> Neurology 76: 101-103, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205700</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318203e908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205700">Lonnqvist et al. (2011)</a> reported a 3-generation family in which 6 affected individuals with ANE had variable outcomes. Five patients had onset of episodes between age 7 months and 6 years; 1 had a single episode at age 12 years as a sequel to mumps. Two patients had recurrence in childhood. One patient had complete recovery, and 3 patients had recovery with only minor motor impairment, 1 of whom also developed seizures responsive to medication. A fifth patient, who had 2 episodes, was severely mentally retarded with intractable epilepsy at age 35, and a sixth patient had learning disabilities and severe visual impairment. All episodes were preceded by common viral infections. Brain MRI showed that the external capsule and mamillary bodies were affected in all, and the brainstem and thalami in 3. Most lesions resolved after the acute phase. Only 1 patient had cortical changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205700" 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>Infection-induced acute encephalopathy-3 is transmitted in an autosomal dominant pattern with reduced penetrance (<a href="#2" class="mim-tip-reference" title="Gika, A. D., Rich, P., Gupta, S., Neilson, D. E., Clarke, A. <strong>Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.</strong> Dev. Med. Child Neurol. 52: 99-102, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19811512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19811512</a>] [<a href="https://doi.org/10.1111/j.1469-8749.2009.03405.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19811512">Gika et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19811512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By whole-genome mapping of the large affected family reported by <a href="#5" class="mim-tip-reference" title="Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S. <strong>Autosomal dominant acute necrotizing encephalopathy.</strong> Neurology 61: 226-230, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874403</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073544.28775.1a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874403">Neilson et al. (2003)</a>, <a href="#6" class="mim-tip-reference" title="Neilson, D. E., Feiler, H. S., Wilhelmsen, K. C., Lynn, A., Eiben, R. M., Kerr, D. S., Warman, M. L. <strong>Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.</strong> Ann. Neurol. 55: 291-294, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755735</a>] [<a href="https://doi.org/10.1002/ana.10849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755735">Neilson et al. (2004)</a> identified a 6.5-Mb region containing the ADANE disease locus on chromosome 2q12.1-q13 (2-point lod score of 3.39 at D2S293). Further analysis showed cosegregation of a 5-marker haplotype, yielding a multipoint lod score of 3.6 across the interval. Sequence analysis showed no disease-causing mutations in 4 candidate genes in the interval: BCL2L11 (<a href="/entry/603827">603827</a>), ST6GalIII (<a href="/entry/608472">608472</a>), CHT1 (<a href="/entry/608761">608761</a>), and FLJ20019. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14755735+12874403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 10 unrelated families with acute necrotizing encephalopathy, including the family reported by Neilson et al. (<a href="#5" class="mim-tip-reference" title="Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S. <strong>Autosomal dominant acute necrotizing encephalopathy.</strong> Neurology 61: 226-230, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874403</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073544.28775.1a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12874403">2003</a>, <a href="#6" class="mim-tip-reference" title="Neilson, D. E., Feiler, H. S., Wilhelmsen, K. C., Lynn, A., Eiben, R. M., Kerr, D. S., Warman, M. L. <strong>Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.</strong> Ann. Neurol. 55: 291-294, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755735</a>] [<a href="https://doi.org/10.1002/ana.10849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755735">2004</a>), <a href="#4" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. <strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong> Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118815">Neilson et al. (2009)</a> identified a heterozygous mutation in the RANBP2 gene (T585M; <a href="/entry/601181#0001">601181.0001</a>). Haplotype analysis did not support a founder effect. Two additional families were found to carry different heterozygous mutations in the RANBP2 gene (<a href="/entry/601181#0002">601181.0002</a> and <a href="/entry/601181#0003">601181.0003</a>). <a href="#4" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. <strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong> Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118815">Neilson et al. (2009)</a> concluded that mutations in the RANBP2 gene predispose to ANE, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required. Four more affected families did not carry RANBP2 mutations, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19118815+14755735+12874403" 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="#3" class="mim-tip-reference" title="Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H. <strong>Dominant encephalopathy mimicking mitochondrial disease.</strong> Neurology 76: 101-103, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205700</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318203e908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205700">Lonnqvist et al. (2011)</a> identified the heterozygous T585M mutation in 6 affected members of a 3-generation Finnish family with ANE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205700" 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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Eiben, R. M., Dooley, J. P., Stowe, S. M.
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<strong>Subacute necrotizing encephalopathy in infancy.</strong>
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Neurology 15: 293 only, 1965.
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Gika, A. D., Rich, P., Gupta, S., Neilson, D. E., Clarke, A.
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<strong>Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.</strong>
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Dev. Med. Child Neurol. 52: 99-102, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19811512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19811512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19811512" 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.1469-8749.2009.03405.x" target="_blank">Full Text</a>]
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Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H.
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<strong>Dominant encephalopathy mimicking mitochondrial disease.</strong>
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Neurology 76: 101-103, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205700" 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.0b013e318203e908" target="_blank">Full Text</a>]
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Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others.
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<strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong>
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Am. J. Hum. Genet. 84: 44-51, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.12.009" target="_blank">Full Text</a>]
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Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S.
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<strong>Autosomal dominant acute necrotizing encephalopathy.</strong>
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Neurology 61: 226-230, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874403" 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.0000073544.28775.1a" target="_blank">Full Text</a>]
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Neilson, D. E., Feiler, H. S., Wilhelmsen, K. C., Lynn, A., Eiben, R. M., Kerr, D. S., Warman, M. L.
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<strong>Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.</strong>
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Ann. Neurol. 55: 291-294, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755735" 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.10849" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 6/18/2012
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Cassandra L. Kniffin - updated : 5/2/2011<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Cassandra L. Kniffin - updated : 5/20/2004
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Cassandra L. Kniffin : 8/12/2003
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carol : 08/11/2023
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alopez : 08/10/2023<br>ckniffin : 08/08/2023<br>carol : 08/31/2015<br>mgross : 10/5/2012<br>carol : 6/19/2012<br>ckniffin : 6/18/2012<br>carol : 10/3/2011<br>ckniffin : 9/19/2011<br>wwang : 5/10/2011<br>ckniffin : 5/2/2011<br>wwang : 2/26/2009<br>ckniffin : 2/2/2009<br>joanna : 1/29/2009<br>terry : 3/3/2005<br>tkritzer : 5/27/2004<br>ckniffin : 5/20/2004<br>carol : 8/15/2003<br>ckniffin : 8/12/2003
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<strong>#</strong> 608033
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ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3
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ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO, 1; ANE1
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q13
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<span class="mim-font">
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{Encephalopathy, acute, infection-induced, 3, susceptibility to}
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<span class="mim-font">
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608033
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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RANBP2
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<span class="mim-font">
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601181
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced encephalopathy-3 (IIAE3) is caused by heterozygous mutation in the RANBP2 gene (601181) on chromosome 2q12.</p><p>For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Neilson et al. (2003) reported a large family in which 11 individuals over 3 generations were affected with an autosomal dominant form of acute necrotizing encephalopathy (ADANE) following febrile illnesses. The family had originally been reported by Eiben et al. (1965). The episodes characteristically occurred in early childhood (most before age 4 years) after a febrile illness. Affected members developed vomiting, seizures, spasticity, rigidity or abnormal posturing, altered mental status, and altered breathing patterns, usually leading to coma. Two patients died, 5 had residual neurologic impairment, and 4 had full recovery. Several affected members had residual weakness, seizures, gait abnormalities, speech disturbance, mental retardation, and mood disorders. Postmortem examination of 2 patients showed brain swelling and hemorrhagic lesions in the thalamus, putamen, and brainstem, as well as pallor of the neurons and myelinated tracts. Analysis of muscle respiration showed loose coupling of oxidative phosphorylation. Neilson et al. (2003) distinguished the disorder from Leigh syndrome (256000), which has a chronic course, but suggested that the pathologic mechanism in this disorder may also involve abnormalities in oxidative phosphorylation. Disease penetrance was estimated at 40%, and recurrent episodes occurred in half of affected individuals. </p><p>Neilson et al. (2009) reported 12 additional families with acute necrotizing encephalopathy (ANE). Specific infectious agents identified included influenza A, influenza, B, parainfluenza II, and Mycoplasma pneumoniae. Patients had a high incidence of seizures (59%), coma (100%), and CSF protein elevation (85%). Three patients had later onset at ages 12, 14, and 37 years, respectively. MRI changes showed variability, with classic involvement of the thalamus, brainstem, and pons, as well as the external capsule and claustrum (19 of 26 episodes), medial temporal lobe and limbic structures including amygdala, hippocampus, or medial temporal lobe (19 of 26), and spinal cord (3 of 26 episodes). </p><p>Gika et al. (2010) reported the clinical features of 1 of the patients reported by Neilson et al. (2009) who carried a heterozygous mutation in the RANBP2 gene (T585M; 601181.0001). This Caucasian girl presented at age 9 months with encephalopathy and seizures following a febrile illness. Brain MRI showed T2 signals in the thalami and the pons. She required ventilation for 10 days, but then made a slow and complete recovery both clinically and on brain imaging. At age 2 years, she presented with acute onset of right-sided sixth nerve palsy after a viral infection; brain CT was normal and the palsy resolved. She presented again at age 9 years with vomiting and decreased consciousness following a 3-day history of fever associated with influenza A. Her condition deteriorated and she progressed into a coma with hypotonia lasting several months. Brain MRI showed T2 signals similar to, but more extensive than, those seen on her first presentation. Two years after this illness, she was nonambulant and severely affected both neurologically and cognitively. The patient's mother, who also carried the mutation, had an episode of 'encephalitis/polyneuritis' at age 19 years following a viral infection and had a foot drop ever since. Neither of the mother's parents carried the mutation. </p><p>Lonnqvist et al. (2011) reported a 3-generation family in which 6 affected individuals with ANE had variable outcomes. Five patients had onset of episodes between age 7 months and 6 years; 1 had a single episode at age 12 years as a sequel to mumps. Two patients had recurrence in childhood. One patient had complete recovery, and 3 patients had recovery with only minor motor impairment, 1 of whom also developed seizures responsive to medication. A fifth patient, who had 2 episodes, was severely mentally retarded with intractable epilepsy at age 35, and a sixth patient had learning disabilities and severe visual impairment. All episodes were preceded by common viral infections. Brain MRI showed that the external capsule and mamillary bodies were affected in all, and the brainstem and thalami in 3. Most lesions resolved after the acute phase. Only 1 patient had cortical changes. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Infection-induced acute encephalopathy-3 is transmitted in an autosomal dominant pattern with reduced penetrance (Gika et al., 2010). </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By whole-genome mapping of the large affected family reported by Neilson et al. (2003), Neilson et al. (2004) identified a 6.5-Mb region containing the ADANE disease locus on chromosome 2q12.1-q13 (2-point lod score of 3.39 at D2S293). Further analysis showed cosegregation of a 5-marker haplotype, yielding a multipoint lod score of 3.6 across the interval. Sequence analysis showed no disease-causing mutations in 4 candidate genes in the interval: BCL2L11 (603827), ST6GalIII (608472), CHT1 (608761), and FLJ20019. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 10 unrelated families with acute necrotizing encephalopathy, including the family reported by Neilson et al. (2003, 2004), Neilson et al. (2009) identified a heterozygous mutation in the RANBP2 gene (T585M; 601181.0001). Haplotype analysis did not support a founder effect. Two additional families were found to carry different heterozygous mutations in the RANBP2 gene (601181.0002 and 601181.0003). Neilson et al. (2009) concluded that mutations in the RANBP2 gene predispose to ANE, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required. Four more affected families did not carry RANBP2 mutations, indicating genetic heterogeneity. </p><p>Lonnqvist et al. (2011) identified the heterozygous T585M mutation in 6 affected members of a 3-generation Finnish family with ANE. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Eiben, R. M., Dooley, J. P., Stowe, S. M.
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<strong>Subacute necrotizing encephalopathy in infancy.</strong>
|
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Neurology 15: 293 only, 1965.
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Gika, A. D., Rich, P., Gupta, S., Neilson, D. E., Clarke, A.
|
|
<strong>Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.</strong>
|
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Dev. Med. Child Neurol. 52: 99-102, 2010.
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[PubMed: 19811512]
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[Full Text: https://doi.org/10.1111/j.1469-8749.2009.03405.x]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H.
|
|
<strong>Dominant encephalopathy mimicking mitochondrial disease.</strong>
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Neurology 76: 101-103, 2011.
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[PubMed: 21205700]
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[Full Text: https://doi.org/10.1212/WNL.0b013e318203e908]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others.
|
|
<strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong>
|
|
Am. J. Hum. Genet. 84: 44-51, 2009.
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[PubMed: 19118815]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.12.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Neilson, D. E., Eiben, R. M., Waniewski, S., Hoppel, C. L., Varnes, M. E., Bangert, B. A., Wiznitzer, M., Warman, M. L., Kerr, D. S.
|
|
<strong>Autosomal dominant acute necrotizing encephalopathy.</strong>
|
|
Neurology 61: 226-230, 2003.
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[PubMed: 12874403]
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[Full Text: https://doi.org/10.1212/01.wnl.0000073544.28775.1a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Neilson, D. E., Feiler, H. S., Wilhelmsen, K. C., Lynn, A., Eiben, R. M., Kerr, D. S., Warman, M. L.
|
|
<strong>Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.</strong>
|
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Ann. Neurol. 55: 291-294, 2004.
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[PubMed: 14755735]
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[Full Text: https://doi.org/10.1002/ana.10849]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/18/2012<br>Cassandra L. Kniffin - updated : 5/2/2011<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Cassandra L. Kniffin - updated : 5/20/2004
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 8/12/2003
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Edit History:
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carol : 08/11/2023<br>alopez : 08/10/2023<br>ckniffin : 08/08/2023<br>carol : 08/31/2015<br>mgross : 10/5/2012<br>carol : 6/19/2012<br>ckniffin : 6/18/2012<br>carol : 10/3/2011<br>ckniffin : 9/19/2011<br>wwang : 5/10/2011<br>ckniffin : 5/2/2011<br>wwang : 2/26/2009<br>ckniffin : 2/2/2009<br>joanna : 1/29/2009<br>terry : 3/3/2005<br>tkritzer : 5/27/2004<br>ckniffin : 5/20/2004<br>carol : 8/15/2003<br>ckniffin : 8/12/2003
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