3279 lines
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Entry
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- #254900 - EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4
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- OMIM
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<p>
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<span class="h4">#254900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/254900"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS254800"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<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=EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17526&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK333437/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8334" 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/action-myoclonus-renal-failure-syndrome" 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=254900[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=163696" 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>
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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:0111444" 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/254900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111444" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 764453009<br />
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<strong>ORPHA:</strong> 163696<br />
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<strong>DO:</strong> 0111444<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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254900
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF<br />
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MYOCLONUS-NEPHROPATHY SYNDROME
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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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<td>
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<span class="mim-font">
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<a href="/geneMap/4/340?start=-3&limit=10&highlight=340">
|
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4q21.1
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</a>
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</span>
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</td>
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<span class="mim-font">
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Epilepsy, progressive myoclonic 4, with or without renal failure
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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/254900"> 254900 </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>
|
|
<span class="mim-font">
|
|
SCARB2
|
|
</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/602257"> 602257 </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 ">
|
|
<a href="/clinicalSynopsis/254900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
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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/PS254800" 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')">
|
|
<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">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/254900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/254900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Horizontal saccades <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749519</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
|
|
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Focal segmental glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br /> -
|
|
Collapsing glomerulopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749515&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749515</a>]</span><br /> -
|
|
Vacuolization in distal and collecting tubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749516</a>]</span><br /> -
|
|
Granular material in cortical tubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749517</a>]</span><br /> -
|
|
Complement component deposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Action tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30721006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30721006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551520</a>, <a href="https://bioportal.bioontology.org/search?q=C0234376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234376</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>]</span><br /> -
|
|
Intention tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30721006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30721006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551520</a>, <a href="https://bioportal.bioontology.org/search?q=C0234376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234376</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span><br /> -
|
|
Postural tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56610005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56610005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234378</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002174</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002174" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002174</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 /> -
|
|
Action myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27572006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27572006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034360</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034360</a>]</span><br /> -
|
|
Resting myoclonus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749512</a>]</span><br /> -
|
|
Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
|
|
Seizures, generalized <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246545002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246545002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002197" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002197</a>]</span><br /> -
|
|
No cognitive decline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749513</a>]</span><br /> -
|
|
Extraneuronal accumulation of autofluorescent pigmented material in various brain regions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749514</a>]</span><br /> -
|
|
Cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Peripheral Nervous System </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Electrophysiologic evidence of demyelinating peripheral neuropathy (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562974</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> HEMATOLOGY </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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|
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- Thrombocytopenia (reported in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</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> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br />
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</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> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in teens to 20's<br /> -
|
|
Rapidly progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
|
|
Patients may present with either renal or neurologic symptoms<br /> -
|
|
Patients may become totally dependent for all activities of daily living<br /> -
|
|
Death occurs 10 to 20 years after onset<br /> -
|
|
Some patients do not develop renal failure<br />
|
|
|
|
</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> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the scavenger receptor class B, member 2 gene (SCARB2, <a href="/entry/602257#0001">602257.0001</a>)<br />
|
|
|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epilepsy, progressive myoclonic
|
|
- <a href="/phenotypicSeries/PS254800">PS254800</a>
|
|
- 13 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
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</th>
|
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<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/4/340?start=-3&limit=10&highlight=340"> 4q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/254900"> Epilepsy, progressive myoclonic 4, with or without renal failure </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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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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<span class="mim-font">
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<a href="/entry/254900"> 254900 </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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<a href="/entry/602257"> SCARB2 </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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<a href="/entry/602257"> 602257 </a>
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</span>
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</td>
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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/4/357?start=-3&limit=10&highlight=357"> 4q21.21 </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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<a href="/entry/616640"> ?Epilepsy, progressive myoclonic, 10 </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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<a href="/entry/616640"> 616640 </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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<a href="/entry/616639"> PRDM8 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/616639"> 616639 </a>
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</span>
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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/6/96?start=-3&limit=10&highlight=96"> 6p22.3 </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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<a href="/entry/620681"> Myoclonic epilepsy of Lafora 2 </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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<a href="/entry/620681"> 620681 </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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<a href="/entry/608072"> NHLRC1 </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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<a href="/entry/608072"> 608072 </a>
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</span>
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</td>
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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/6/925?start=-3&limit=10&highlight=925"> 6q24.3 </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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<a href="/entry/254780"> Myoclonic epilepsy of Lafora 1 </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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<a href="/entry/254780"> 254780 </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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<a href="/entry/607566"> EPM2A </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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<a href="/entry/607566"> 607566 </a>
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</span>
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</td>
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</tr>
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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/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </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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<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </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>
|
|
</td>
|
|
<td>
|
|
<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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<a href="/entry/611726"> 611726 </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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<a href="/entry/611725"> KCTD7 </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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<a href="/entry/611725"> 611725 </a>
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</span>
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</td>
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</tr>
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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/11/213?start=-3&limit=10&highlight=213"> 11p15.1 </a>
|
|
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|
</span>
|
|
</td>
|
|
<td>
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<span class="mim-font">
|
|
<a href="/entry/616187"> Epilepsy, progressive myoclonic 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616187"> 616187 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176258"> KCNC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176258"> 176258 </a>
|
|
</span>
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|
</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/298?start=-3&limit=10&highlight=298"> 12q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612437"> Epilepsy, progressive myoclonic 1B </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/612437"> 612437 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608500"> PRICKLE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608500"> 608500 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/576?start=-3&limit=10&highlight=576"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619191"> Epilepsy, progressive myoclonic, 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/619191"> 619191 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619192"> SLC7A6OS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619192"> 619192 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/671?start=-3&limit=10&highlight=671"> 17q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614018"> Epilepsy, progressive myoclonic 6 </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/614018"> 614018 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604027"> GOSR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604027"> 604027 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/89?start=-3&limit=10&highlight=89"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616540"> ?Epilepsy, progressive myoclonic, 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/616540"> 616540 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150341"> LMNB2 </a>
|
|
</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/150341"> 150341 </a>
|
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</span>
|
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</td>
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
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|
<a href="/geneMap/19/142?start=-3&limit=10&highlight=142"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618876"> Epilepsy, progressive myoclonic, 11 </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">
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|
<a href="/entry/618876"> 618876 </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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<a href="/entry/608873"> SEMA6B </a>
|
|
</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/608873"> 608873 </a>
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</span>
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</td>
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</tr>
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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/19/475?start=-3&limit=10&highlight=475"> 19p13.11 </a>
|
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|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/616230"> Epilepsy, progressive myoclonic, 8 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<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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|
<a href="/entry/616230"> 616230 </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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<a href="/entry/606919"> CERS1 </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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<a href="/entry/606919"> 606919 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
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|
<a href="/geneMap/21/149?start=-3&limit=10&highlight=149"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/254800"> Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<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>
|
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/254800"> 254800 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601145"> CSTB </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601145"> 601145 </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="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<p>A number sign (#) is used with this entry because progressive myoclonic epilepsy-4 with or without renal failure (EPM4), also known as action myoclonus-renal failure syndrome (AMRF), is caused by homozygous or compound heterozygous mutations in the SCARB2 gene (<a href="/entry/602257">602257</a>) on chromosome 4q21.</p>
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<p>The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (<a href="#2" class="mim-tip-reference" title="Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E. <strong>Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.</strong> Brain 127: 2173-2182, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15364701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15364701</a>] [<a href="https://doi.org/10.1093/brain/awh263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15364701">Badhwar et al., 2004</a>). Some patients do not develop renal failure (<a href="#7" class="mim-tip-reference" title="Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki A. E., Berkovic, S. F. <strong>SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.</strong> Ann. Neurol. 66: 532-536, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19847901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19847901</a>] [<a href="https://doi.org/10.1002/ana.21765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19847901">Dibbens et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15364701+19847901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (<a href="/entry/254800">254800</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R. <strong>Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199."None>Andermann et al. (1981)</a> observed 3 patients in 4 French Canadian sibships who developed tremor of the fingers and hands and proteinuria at 17 to 18 years of age. Severe progressive action myoclonus, dysarthria, ataxia, infrequent generalized seizures, and renal failure requiring dialysis and/or renal transplantation ensued between 19 and 23 years of age. Despite severe neurologic disability due mainly to action myoclonus, intelligence remained normal in patients who had survived as long as 14 years after renal transplantation. Nephrosialidosis, another disorder with combined neurologic and renal abnormalities, was excluded.</p><p><a href="#2" class="mim-tip-reference" title="Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E. <strong>Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.</strong> Brain 127: 2173-2182, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15364701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15364701</a>] [<a href="https://doi.org/10.1093/brain/awh263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15364701">Badhwar et al. (2004)</a> reported 15 individuals with AMRF from 9 families originating from 5 different countries, including the U.S., Australia, Canada, Cuba, and Germany. Four of the patients had originally been reported by <a href="#1" class="mim-tip-reference" title="Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R. <strong>Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199."None>Andermann et al. (1981)</a>. Fine tremor of the fingers and hands was the first neurologic symptom with age at onset between 17 and 19 years. Involvement of the head, trunk, and sometimes the tongue occurred with progression of the disorder. Onset of action myoclonus occurred between 14 to 29 years and was the most debilitating feature of the disease. Asynchronous jerks were also present at rest. Many patients became bedridden or wheelchair-bound in the final stages. Convulsive seizures occurred in 73% of patients, with onset between 20 and 28 years. Other neurologic features included ataxia and dysarthria, and 8 patients had cerebellar atrophy on MRI. Proteinuria occurred in all cases between ages 9 to 30 years, and renal failure occurred in 12 of 15 patients within 8 years. Patients presented with neurologic symptoms (5), renal dysfunction (4), or both simultaneously (6). Nine patients died between ages 25 and 35 years, due to respiratory complications, renal failure, or complications of renal transplant. <a href="#2" class="mim-tip-reference" title="Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E. <strong>Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.</strong> Brain 127: 2173-2182, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15364701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15364701</a>] [<a href="https://doi.org/10.1093/brain/awh263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15364701">Badhwar et al. (2004)</a> found that dialysis and renal transplantation were effective treatments for the renal failure but did not improve the neurologic condition. Autosomal recessive inheritance was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15364701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Vadlamudi, L., Vears, D. F., Hughes, A., Pedagogus, E., Berkovic, S. F. <strong>Action myoclonus--renal failure syndrome: a cause for worsening tremor in young adults.</strong> Neurology 67: 1310-1311, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030781</a>] [<a href="https://doi.org/10.1212/01.wnl.0000238424.23177.5e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17030781">Vadlamudi et al. (2006)</a> reported 2 unrelated patients with AMRF. The first patient, an Australian man of English descent, developed end-stage renal failure at age 20 years and was treated with dialysis. He also developed a mild, intermittent upper limb action tremor that was exacerbated by stress. At age 24, he had action tremor, myoclonus in the hands and legs, and reported occasional falls while playing sports. He had a renal transplant at age 24. In his late 20s, he developed problems with balance and writing, action myoclonus, postural tremor, gait ataxia, dysarthria, and seizures. The second patient was a Cypriot-born Australian woman born of first cousin parents. She developed focal segmental glomerulosclerosis at age 22 years and had a renal transplant at age 28. Neurologic symptoms began at age 25, with fine action tremor of the hands and deterioration in walking. She later developed worsening tremor, action myoclonus, gait ataxia, and dysarthria. Cognitive function was preserved in both patients. <a href="#8" class="mim-tip-reference" title="Vadlamudi, L., Vears, D. F., Hughes, A., Pedagogus, E., Berkovic, S. F. <strong>Action myoclonus--renal failure syndrome: a cause for worsening tremor in young adults.</strong> Neurology 67: 1310-1311, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030781</a>] [<a href="https://doi.org/10.1212/01.wnl.0000238424.23177.5e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17030781">Vadlamudi et al. (2006)</a> emphasized the difficulty in diagnosing this disorder in the early stages because tremor may be the only presenting feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17030781" 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="Balreira, A., Gaspar, P., Caiola, D., Chaves, J., Beirao, I., Lopes Lima, J., Azevedo, J. E., Sa Miranda, M. C. <strong>A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.</strong> Hum. Molec. Genet. 17: 2238-2243, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18424452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18424452</a>] [<a href="https://doi.org/10.1093/hmg/ddn124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18424452">Balreira et al. (2008)</a> reported 2 Portuguese sisters, born of consanguineous parents, with AMRF. The first sister presented at age 15 with myoclonic jerks of the upper arms. Symptoms progressed to involve the lower limbs, resulting in gait instability. Horizontal saccades and proteinuria developed at age 18. By age 20, she was totally dependent, unable to write, eat alone, or walk independently, and manifested dysarthria and dysphagia. She developed nephrotic syndrome with thrombocytopenia; renal biopsy showed tubular alterations with vacuolization in distal and collecting tubules and granular material in cortical tubules. There was also deposition of complement components. She died at age 23. A DNA sample from the first sister was not available for testing. The second sister had a similar phenotype with onset at age 17. Horizontal saccades developed at age 20, and by age 21 she presented nephrotic syndrome and was totally dependent 1 year later. At age 23, she had normocytic normochromic anemia and hypoalbuminemia but no thrombocytopenia. She died at age 26 years. Patient fibroblasts showed 10% residual beta-glucosidase (GBA; <a href="/entry/606463">606463</a>) activity and an abnormal glycosylation pattern, consistent with depletion of post-Golgi forms of the enzyme. However, leukocytes showed normal GBA activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18424452" 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><strong><em>Neuropathologic Findings</em></strong></p><p>
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Neuropathologic examination of 1 of the patients reported by <a href="#2" class="mim-tip-reference" title="Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E. <strong>Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.</strong> Brain 127: 2173-2182, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15364701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15364701</a>] [<a href="https://doi.org/10.1093/brain/awh263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15364701">Badhwar et al. (2004)</a> showed extraneuronal accumulation of irregularly shaped, refractile, and autofluorescent pigmented granules in the cerebral cortex, the globus pallidus, and some areas of the cerebellar cortex. Renal pathology of several patients showed focal glomerulosclerosis, some with features of collapsing glomerulopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15364701" 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><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#7" class="mim-tip-reference" title="Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki A. E., Berkovic, S. F. <strong>SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.</strong> Ann. Neurol. 66: 532-536, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19847901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19847901</a>] [<a href="https://doi.org/10.1002/ana.21765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19847901">Dibbens et al. (2009)</a> identified 5 unrelated Italian patients with progressive myoclonic epilepsy due to SCARB2 mutations (see, e.g., <a href="/entry/602257#0005">602257.0005</a>-<a href="/entry/602257#0006">602257.0006</a>) who did not develop renal failure. Age at onset ranged between 14 and 23 years, and the disorder was characterized by action myoclonus, tonic-clonic seizures, and later development of ataxia. Four patients died due to refractory seizures and immobility 10 to 15 years after onset, and none of 4 patients had developed renal failure. The fifth patient showed mild proteinuria at age 32 years, 5.5 years after onset. These 5 patients were ascertained from a larger group of 41 patients with progressive myoclonic epilepsy without dementia who were negative for mutations in the CSTB gene (<a href="/entry/601145">601145</a>), which is responsible for progressive myoclonic epilepsy-1 (EPM1; <a href="/entry/254800">254800</a>). The findings of <a href="#7" class="mim-tip-reference" title="Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki A. E., Berkovic, S. F. <strong>SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.</strong> Ann. Neurol. 66: 532-536, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19847901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19847901</a>] [<a href="https://doi.org/10.1002/ana.21765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19847901">Dibbens et al. (2009)</a> expanded the phenotype associated with SCARB2 mutations to include patients without renal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19847901" 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="Dibbens, L. M., Karakis, I., Bayly, M. A., Costello, D. J., Cole, A. J., Berkovic, S. F. <strong>Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.</strong> Arch. Neurol. 68: 812-813, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21670406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21670406</a>] [<a href="https://doi.org/10.1001/archneurol.2011.120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21670406">Dibbens et al. (2011)</a> provided follow-up of a patient with progressive myoclonic epilepsy without renal failure originally reported by <a href="#5" class="mim-tip-reference" title="Costello, D. J., Chiappa, K. H., Siao, P. <strong>Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.</strong> Arch. Neurol. 66: 898-901, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19597094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19597094</a>] [<a href="https://doi.org/10.1001/archneurol.2009.131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19597094">Costello et al. (2009)</a>. He had onset of myoclonic epilepsy at age 16 years and became severely disabled, requiring a wheelchair by age 20. At age 27, he had intractable myoclonus, dysarthria, and dysphagia, but cognition remained intact and there was no evidence of renal failure. Electrophysiologic studies indicated a demyelinating peripheral neuropathy, with reduced sensory and motor action potentials and mildly decreased nerve conduction velocities. <a href="#6" class="mim-tip-reference" title="Dibbens, L. M., Karakis, I., Bayly, M. A., Costello, D. J., Cole, A. J., Berkovic, S. F. <strong>Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.</strong> Arch. Neurol. 68: 812-813, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21670406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21670406</a>] [<a href="https://doi.org/10.1001/archneurol.2011.120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21670406">Dibbens et al. (2011)</a> identified compound heterozygosity for 2 mutations in the SCARB2 gene (<a href="/entry/602257#0003">602257.0003</a> and <a href="/entry/602257#0007">602257.0007</a>). The findings reemphasized that SCARB2 mutations can cause EPM without renal failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21670406+19597094" 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="#1" class="mim-tip-reference" title="Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R. <strong>Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199."None>Andermann et al. (1981)</a> described AMRF in French Canadian sibships. One family had 2 affected sibs, and another was consanguineous. All patients were from the same ethnic group and geographic area, and family names were shared by the ancestors of all cases, consistent with autosomal recessive inheritance of the disorder.</p>
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<p>Studying only 3 unrelated affected individuals with ARMF and their relatives, <a href="#4" class="mim-tip-reference" title="Berkovic, S. F., Dibbens, L. M., Oshlack, A., Silver, J. D., Katerelos, M., Vears, D. F., Lullmann-Rauch, R., Blanz, J., Zhang, K. W., Stankovich, J., Kalnins, R. M., Dowling, J. P., and 14 others. <strong>Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.</strong> Am. J. Hum. Genet. 82: 673-684, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18308289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18308289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18308289[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.2007.12.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18308289">Berkovic et al. (2008)</a> used homozygosity mapping with single-nucleotide polymorphism (SNP) chips to localize the disorder to chromosome 4q13-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18308289" 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>Using microarray expression analysis, <a href="#4" class="mim-tip-reference" title="Berkovic, S. F., Dibbens, L. M., Oshlack, A., Silver, J. D., Katerelos, M., Vears, D. F., Lullmann-Rauch, R., Blanz, J., Zhang, K. W., Stankovich, J., Kalnins, R. M., Dowling, J. P., and 14 others. <strong>Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.</strong> Am. J. Hum. Genet. 82: 673-684, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18308289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18308289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18308289[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.2007.12.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18308289">Berkovic et al. (2008)</a> identified the SCARB2 gene (<a href="/entry/602257">602257</a>) as a likely site of mutations causing AMRF within the critical region. Mutations in SCARB2 were found in all 3 families used for mapping and subsequently confirmed in 2 other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein (see <a href="/entry/602257#0001">602257.0001</a>-<a href="/entry/602257#0003">602257.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18308289" 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 Portuguese girl with progressive myoclonic epilepsy and nephrotic syndrome, <a href="#3" class="mim-tip-reference" title="Balreira, A., Gaspar, P., Caiola, D., Chaves, J., Beirao, I., Lopes Lima, J., Azevedo, J. E., Sa Miranda, M. C. <strong>A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.</strong> Hum. Molec. Genet. 17: 2238-2243, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18424452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18424452</a>] [<a href="https://doi.org/10.1093/hmg/ddn124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18424452">Balreira et al. (2008)</a> identified a homozygous mutation in the SCARB2 gene (W178X; <a href="/entry/602257#0004">602257.0004</a>). A DNA sample from her affected sister was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18424452" 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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Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R.
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Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199.
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Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15364701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15364701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15364701" 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/awh263" target="_blank">Full Text</a>]
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Balreira, A., Gaspar, P., Caiola, D., Chaves, J., Beirao, I., Lopes Lima, J., Azevedo, J. E., Sa Miranda, M. C.
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<strong>A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.</strong>
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Hum. Molec. Genet. 17: 2238-2243, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18424452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18424452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18424452" 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/hmg/ddn124" target="_blank">Full Text</a>]
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Berkovic, S. F., Dibbens, L. M., Oshlack, A., Silver, J. D., Katerelos, M., Vears, D. F., Lullmann-Rauch, R., Blanz, J., Zhang, K. W., Stankovich, J., Kalnins, R. M., Dowling, J. P., and 14 others.
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<strong>Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.</strong>
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Am. J. Hum. Genet. 82: 673-684, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18308289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18308289</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18308289[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=18308289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Costello, D. J., Chiappa, K. H., Siao, P.
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<strong>Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.</strong>
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Arch. Neurol. 66: 898-901, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19597094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19597094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19597094" 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/archneurol.2009.131" target="_blank">Full Text</a>]
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Dibbens, L. M., Karakis, I., Bayly, M. A., Costello, D. J., Cole, A. J., Berkovic, S. F.
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<strong>Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.</strong>
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Arch. Neurol. 68: 812-813, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21670406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21670406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21670406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki A. E., Berkovic, S. F.
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<strong>SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.</strong>
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Ann. Neurol. 66: 532-536, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19847901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19847901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19847901" 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.21765" target="_blank">Full Text</a>]
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Vadlamudi, L., Vears, D. F., Hughes, A., Pedagogus, E., Berkovic, S. F.
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<strong>Action myoclonus--renal failure syndrome: a cause for worsening tremor in young adults.</strong>
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Neurology 67: 1310-1311, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17030781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17030781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17030781" 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.0000238424.23177.5e" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/21/2011<br>Cassandra L. Kniffin - updated : 9/1/2009<br>Victor A. McKusick - updated : 4/14/2008<br>Cassandra L. Kniffin - updated : 8/2/2007
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Victor A. McKusick : 6/4/1986
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carol : 10/14/2016<br>carol : 01/20/2015<br>carol : 9/22/2011<br>ckniffin : 9/20/2011<br>wwang : 6/13/2011<br>wwang : 2/21/2011<br>ckniffin : 1/21/2011<br>wwang : 9/30/2009<br>ckniffin : 9/1/2009<br>alopez : 4/30/2008<br>terry : 4/14/2008<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>mgross : 3/17/2004<br>mimman : 2/8/1996<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 8/8/1988<br>marie : 3/25/1988<br>reenie : 6/4/1986
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EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4
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<em>Alternative titles; symbols</em>
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ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF<br />
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MYOCLONUS-NEPHROPATHY SYNDROME
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<strong>SNOMEDCT:</strong> 764453009;
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<strong>ORPHA:</strong> 163696;
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<strong>DO:</strong> 0111444;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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4q21.1
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<span class="mim-font">
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Epilepsy, progressive myoclonic 4, with or without renal failure
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254900
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Autosomal recessive
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3
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SCARB2
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602257
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because progressive myoclonic epilepsy-4 with or without renal failure (EPM4), also known as action myoclonus-renal failure syndrome (AMRF), is caused by homozygous or compound heterozygous mutations in the SCARB2 gene (602257) on chromosome 4q21.</p>
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<strong>Description</strong>
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<p>The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). </p><p>For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</p>
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<strong>Clinical Features</strong>
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<p>Andermann et al. (1981) observed 3 patients in 4 French Canadian sibships who developed tremor of the fingers and hands and proteinuria at 17 to 18 years of age. Severe progressive action myoclonus, dysarthria, ataxia, infrequent generalized seizures, and renal failure requiring dialysis and/or renal transplantation ensued between 19 and 23 years of age. Despite severe neurologic disability due mainly to action myoclonus, intelligence remained normal in patients who had survived as long as 14 years after renal transplantation. Nephrosialidosis, another disorder with combined neurologic and renal abnormalities, was excluded.</p><p>Badhwar et al. (2004) reported 15 individuals with AMRF from 9 families originating from 5 different countries, including the U.S., Australia, Canada, Cuba, and Germany. Four of the patients had originally been reported by Andermann et al. (1981). Fine tremor of the fingers and hands was the first neurologic symptom with age at onset between 17 and 19 years. Involvement of the head, trunk, and sometimes the tongue occurred with progression of the disorder. Onset of action myoclonus occurred between 14 to 29 years and was the most debilitating feature of the disease. Asynchronous jerks were also present at rest. Many patients became bedridden or wheelchair-bound in the final stages. Convulsive seizures occurred in 73% of patients, with onset between 20 and 28 years. Other neurologic features included ataxia and dysarthria, and 8 patients had cerebellar atrophy on MRI. Proteinuria occurred in all cases between ages 9 to 30 years, and renal failure occurred in 12 of 15 patients within 8 years. Patients presented with neurologic symptoms (5), renal dysfunction (4), or both simultaneously (6). Nine patients died between ages 25 and 35 years, due to respiratory complications, renal failure, or complications of renal transplant. Badhwar et al. (2004) found that dialysis and renal transplantation were effective treatments for the renal failure but did not improve the neurologic condition. Autosomal recessive inheritance was observed. </p><p>Vadlamudi et al. (2006) reported 2 unrelated patients with AMRF. The first patient, an Australian man of English descent, developed end-stage renal failure at age 20 years and was treated with dialysis. He also developed a mild, intermittent upper limb action tremor that was exacerbated by stress. At age 24, he had action tremor, myoclonus in the hands and legs, and reported occasional falls while playing sports. He had a renal transplant at age 24. In his late 20s, he developed problems with balance and writing, action myoclonus, postural tremor, gait ataxia, dysarthria, and seizures. The second patient was a Cypriot-born Australian woman born of first cousin parents. She developed focal segmental glomerulosclerosis at age 22 years and had a renal transplant at age 28. Neurologic symptoms began at age 25, with fine action tremor of the hands and deterioration in walking. She later developed worsening tremor, action myoclonus, gait ataxia, and dysarthria. Cognitive function was preserved in both patients. Vadlamudi et al. (2006) emphasized the difficulty in diagnosing this disorder in the early stages because tremor may be the only presenting feature. </p><p>Balreira et al. (2008) reported 2 Portuguese sisters, born of consanguineous parents, with AMRF. The first sister presented at age 15 with myoclonic jerks of the upper arms. Symptoms progressed to involve the lower limbs, resulting in gait instability. Horizontal saccades and proteinuria developed at age 18. By age 20, she was totally dependent, unable to write, eat alone, or walk independently, and manifested dysarthria and dysphagia. She developed nephrotic syndrome with thrombocytopenia; renal biopsy showed tubular alterations with vacuolization in distal and collecting tubules and granular material in cortical tubules. There was also deposition of complement components. She died at age 23. A DNA sample from the first sister was not available for testing. The second sister had a similar phenotype with onset at age 17. Horizontal saccades developed at age 20, and by age 21 she presented nephrotic syndrome and was totally dependent 1 year later. At age 23, she had normocytic normochromic anemia and hypoalbuminemia but no thrombocytopenia. She died at age 26 years. Patient fibroblasts showed 10% residual beta-glucosidase (GBA; 606463) activity and an abnormal glycosylation pattern, consistent with depletion of post-Golgi forms of the enzyme. However, leukocytes showed normal GBA activity. </p><p><strong><em>Neuropathologic Findings</em></strong></p><p>
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Neuropathologic examination of 1 of the patients reported by Badhwar et al. (2004) showed extraneuronal accumulation of irregularly shaped, refractile, and autofluorescent pigmented granules in the cerebral cortex, the globus pallidus, and some areas of the cerebellar cortex. Renal pathology of several patients showed focal glomerulosclerosis, some with features of collapsing glomerulopathy. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Dibbens et al. (2009) identified 5 unrelated Italian patients with progressive myoclonic epilepsy due to SCARB2 mutations (see, e.g., 602257.0005-602257.0006) who did not develop renal failure. Age at onset ranged between 14 and 23 years, and the disorder was characterized by action myoclonus, tonic-clonic seizures, and later development of ataxia. Four patients died due to refractory seizures and immobility 10 to 15 years after onset, and none of 4 patients had developed renal failure. The fifth patient showed mild proteinuria at age 32 years, 5.5 years after onset. These 5 patients were ascertained from a larger group of 41 patients with progressive myoclonic epilepsy without dementia who were negative for mutations in the CSTB gene (601145), which is responsible for progressive myoclonic epilepsy-1 (EPM1; 254800). The findings of Dibbens et al. (2009) expanded the phenotype associated with SCARB2 mutations to include patients without renal involvement. </p><p>Dibbens et al. (2011) provided follow-up of a patient with progressive myoclonic epilepsy without renal failure originally reported by Costello et al. (2009). He had onset of myoclonic epilepsy at age 16 years and became severely disabled, requiring a wheelchair by age 20. At age 27, he had intractable myoclonus, dysarthria, and dysphagia, but cognition remained intact and there was no evidence of renal failure. Electrophysiologic studies indicated a demyelinating peripheral neuropathy, with reduced sensory and motor action potentials and mildly decreased nerve conduction velocities. Dibbens et al. (2011) identified compound heterozygosity for 2 mutations in the SCARB2 gene (602257.0003 and 602257.0007). The findings reemphasized that SCARB2 mutations can cause EPM without renal failure. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Andermann et al. (1981) described AMRF in French Canadian sibships. One family had 2 affected sibs, and another was consanguineous. All patients were from the same ethnic group and geographic area, and family names were shared by the ancestors of all cases, consistent with autosomal recessive inheritance of the disorder.</p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Studying only 3 unrelated affected individuals with ARMF and their relatives, Berkovic et al. (2008) used homozygosity mapping with single-nucleotide polymorphism (SNP) chips to localize the disorder to chromosome 4q13-q21. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Using microarray expression analysis, Berkovic et al. (2008) identified the SCARB2 gene (602257) as a likely site of mutations causing AMRF within the critical region. Mutations in SCARB2 were found in all 3 families used for mapping and subsequently confirmed in 2 other unrelated AMRF families. The mutations were associated with lack of SCARB2 protein (see 602257.0001-602257.0003). </p><p>In a Portuguese girl with progressive myoclonic epilepsy and nephrotic syndrome, Balreira et al. (2008) identified a homozygous mutation in the SCARB2 gene (W178X; 602257.0004). A DNA sample from her affected sister was not available for testing. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R.
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<strong>Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract)</strong>
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Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199.
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<p class="mim-text-font">
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Badhwar, A., Berkovic, S. F., Dowling, J. P., Gonzales, M., Narayanan, S., Brodtmann, A., Berzen, L., Caviness, J., Trenkwalder, C., Winkelmann, J., Rivest, J., Lambert, M., Hernandez-Cossio, O., Carpenter, S., Andermann, F., Andermann, E.
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<strong>Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.</strong>
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Brain 127: 2173-2182, 2004.
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[PubMed: 15364701]
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[Full Text: https://doi.org/10.1093/brain/awh263]
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<li>
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<p class="mim-text-font">
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Balreira, A., Gaspar, P., Caiola, D., Chaves, J., Beirao, I., Lopes Lima, J., Azevedo, J. E., Sa Miranda, M. C.
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<strong>A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.</strong>
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Hum. Molec. Genet. 17: 2238-2243, 2008.
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[PubMed: 18424452]
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[Full Text: https://doi.org/10.1093/hmg/ddn124]
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Berkovic, S. F., Dibbens, L. M., Oshlack, A., Silver, J. D., Katerelos, M., Vears, D. F., Lullmann-Rauch, R., Blanz, J., Zhang, K. W., Stankovich, J., Kalnins, R. M., Dowling, J. P., and 14 others.
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<strong>Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.</strong>
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Am. J. Hum. Genet. 82: 673-684, 2008.
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[PubMed: 18308289]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.12.019]
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<li>
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<p class="mim-text-font">
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Costello, D. J., Chiappa, K. H., Siao, P.
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<strong>Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.</strong>
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Arch. Neurol. 66: 898-901, 2009.
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[PubMed: 19597094]
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[Full Text: https://doi.org/10.1001/archneurol.2009.131]
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<p class="mim-text-font">
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Dibbens, L. M., Karakis, I., Bayly, M. A., Costello, D. J., Cole, A. J., Berkovic, S. F.
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<strong>Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.</strong>
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Arch. Neurol. 68: 812-813, 2011.
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[PubMed: 21670406]
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[Full Text: https://doi.org/10.1001/archneurol.2011.120]
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<p class="mim-text-font">
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Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki A. E., Berkovic, S. F.
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<strong>SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.</strong>
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Ann. Neurol. 66: 532-536, 2009.
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[PubMed: 19847901]
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[Full Text: https://doi.org/10.1002/ana.21765]
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<li>
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<p class="mim-text-font">
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Vadlamudi, L., Vears, D. F., Hughes, A., Pedagogus, E., Berkovic, S. F.
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<strong>Action myoclonus--renal failure syndrome: a cause for worsening tremor in young adults.</strong>
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Neurology 67: 1310-1311, 2006.
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[PubMed: 17030781]
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[Full Text: https://doi.org/10.1212/01.wnl.0000238424.23177.5e]
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Contributors:
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Cassandra L. Kniffin - updated : 9/20/2011<br>Cassandra L. Kniffin - updated : 1/21/2011<br>Cassandra L. Kniffin - updated : 9/1/2009<br>Victor A. McKusick - updated : 4/14/2008<br>Cassandra L. Kniffin - updated : 8/2/2007
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Creation Date:
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Victor A. McKusick : 6/4/1986
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