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Entry
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- #133020 - ERYTHERMALGIA, PRIMARY
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- OMIM
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<p>
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<span class="h4">#133020</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/133020"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</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="#pathogenesis">Pathogenesis</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=ERYTHERMALGIA, PRIMARY" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21236&Typ=Pat" title="Hereditary sodium channelopathy-related small fibers neuropathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hereditary sodium channelo… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11928&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary erythromelalgia </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1163/" 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="#mimMedlinePlusGeneticsFold" id="mimMedlinePlusGeneticsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Consumer-friendly information about the effects of genetic variation on human health."><span id="mimMedlinePlusGeneticsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>MedlinePlus Genetics</div>
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<div id="mimMedlinePlusGeneticsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/condition/erythromelalgia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">Erythromelalgia </a></div><div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/condition/small-fiber-neuropathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">Small fiber neuropathy </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=133020[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306577" title="Hereditary sodium channelopathy-related small fibers neuropathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hereditary sodium channelo…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary erythromelalgia</a></div>
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</div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:9240" 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/133020" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:133020" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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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> 403390002, 709489006<br />
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<strong>ORPHA:</strong> 306577, 90026<br />
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<strong>DO:</strong> 9240<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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133020
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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ERYTHERMALGIA, PRIMARY
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<div>
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<h4>
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<span class="mim-font">
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ERYTHROMELALGIA, PRIMARY<br />
|
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ERYTHROMELALGIA, FAMILIAL
|
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</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
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<span class="h3 mim-font">
|
|
NEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/741?start=-3&limit=10&highlight=741">
|
|
2q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Small fiber neuropathy
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133020"> 133020 </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">
|
|
SCN9A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603415"> 603415 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/741?start=-3&limit=10&highlight=741">
|
|
2q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Erythermalgia, primary
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133020"> 133020 </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">
|
|
SCN9A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603415"> 603415 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/133020" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/133020" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/133020" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaw pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274667000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274667000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R68.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R68.84</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.92" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.92</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236000</a>, <a href="https://bioportal.bioontology.org/search?q=C2015951&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2015951</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040264</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dry eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162290004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162290004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46152009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46152009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302896008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302896008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H04.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H04.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022575</a>, <a href="https://bioportal.bioontology.org/search?q=C0013238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013238</a>, <a href="https://bioportal.bioontology.org/search?q=C0314719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0314719</a>, <a href="https://bioportal.bioontology.org/search?q=C0720056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720056</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001097</a>]</span><br /> -
|
|
Blurred vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246636008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246636008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111516008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111516008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344232</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000622</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dry mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56893005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56893005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87715008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87715008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300268000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300268000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K11.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K11.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000217</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000217</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orthostatic dizziness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103017008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103017008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/407645004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">407645004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234987</a>]</span><br />
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reddish or purplish skin discoloration, episodic, associated with pain <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851498</a>]</span><br /> -
|
|
Hyperhidrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312230002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312230002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</a>]</span><br /> -
|
|
Decreased intraepithelial nerve fiber density <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276708</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Swelling of the affected areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851497</a>]</span><br /> -
|
|
Muscle pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Myalgias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br />
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|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Burning pain, episodic, typically in the distal extremities, particularly the hands and feet (bilateral, symmetric), triggered by warm stimuli, exercise, standing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851496</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36349006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36349006</a>]</span><br /> -
|
|
Itching <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418290006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418290006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418363000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418363000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424492005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424492005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L29.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L29</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033774&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033774</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000989</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000989</a>]</span><br /> -
|
|
Impaired distal temperature sensation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276707</a>]</span><br /> -
|
|
Hypoesthesia over affected areas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011501&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011501</a>]</span><br /> -
|
|
Autonomic dysfunction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15241006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15241006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G90.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">337</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/337.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">337.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145628</a>, <a href="https://bioportal.bioontology.org/search?q=C0013363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012332</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Relief is achieved by cooling or by elevating the extremities<br /> -
|
|
Disorder may progress to involve a larger body area<br /> -
|
|
Onset usually in childhood or adolescence<br /> -
|
|
Adult-onset is referred to as small fiber neuropathy<br />
|
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|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the voltage-gated sodium channel 9 alpha-subunit gene (SCN9A, <a href="/entry/603415#0001">603415.0001</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">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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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="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<p>A number sign (#) is used with this entry because primary erythermalgia is caused by heterozygous mutation in the SCN9A gene (<a href="/entry/603415">603415</a>), encoding a voltage-gated sodium channel, on chromosome 2q24.</p><p>Small fiber neuropathy can also be caused by heterozygous mutation in the SCN9A gene.</p>
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<p>'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold (<a href="#21" class="mim-tip-reference" title="Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. <strong>Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7.</strong> Arch. Neurol. 62: 1587-1590, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216943</a>] [<a href="https://doi.org/10.1001/archneur.62.10.1587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16216943">Michiels et al., 2005</a>). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant (<a href="#18" class="mim-tip-reference" title="Mandell, F., Folkman, J., Matsumoto, S. <strong>Erythromelalgia.</strong> Pediatrics 59: 45-48, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/840540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">840540</a>]" pmid="840540">Mandell et al., 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16216943+840540" 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="#28" class="mim-tip-reference" title="Waxman, S. G., Dib-Hajj, S. D. <strong>Erythromelalgia: a hereditary pain syndrome enters the molecular era.</strong> Ann. Neurol. 57: 785-788, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15929046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15929046</a>] [<a href="https://doi.org/10.1002/ana.20511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15929046">Waxman and Dib-Hajj (2005)</a> provided a review of primary erythermalgia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15929046" 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>Although 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia (<a href="#28" class="mim-tip-reference" title="Waxman, S. G., Dib-Hajj, S. D. <strong>Erythromelalgia: a hereditary pain syndrome enters the molecular era.</strong> Ann. Neurol. 57: 785-788, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15929046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15929046</a>] [<a href="https://doi.org/10.1002/ana.20511" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15929046">Waxman and Dib-Hajj, 2005</a>), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms (<a href="#23" class="mim-tip-reference" title="Michiels, J. J., van Joost, T. <strong>Erythromelalgia and thrombocytopenia: a causal relation.</strong> J. Am. Acad. Derm. 22: 107-111, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2405024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2405024</a>] [<a href="https://doi.org/10.1016/s0190-9622(08)80005-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2405024">Michiels and van Joost, 1990</a>). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia (<a href="#22" class="mim-tip-reference" title="Michiels, J. J., ten Kate, F. W. J., Vuzevski, V. D., Abels, J. <strong>Histopathology of erythromelalgia in thrombocythaemia.</strong> Histopathology 8: 669-678, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6384014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6384014</a>] [<a href="https://doi.org/10.1111/j.1365-2559.1984.tb02379.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6384014">Michiels et al., 1984</a>; <a href="#10" class="mim-tip-reference" title="Drenth, J. P. H., Vuzevski, V., Van Joost, T., Casteels-Van Daele, M., Vermylen, J., Michiels, J. J. <strong>Cutaneous pathology in primary erythermalgia.</strong> Am. J. Dermatopath. 18: 30-34, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8721588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8721588</a>] [<a href="https://doi.org/10.1097/00000372-199602000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8721588">Drenth et al., 1996</a>). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy (<a href="#20" class="mim-tip-reference" title="Michiels, J. J., Abels, J., Steketee, J., van Vliet, H. H. D. M., Vuzevski, V. D. <strong>Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia.</strong> Ann. Intern. Med. 102: 466-471, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3977194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3977194</a>] [<a href="https://doi.org/10.7326/0003-4819-102-4-466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3977194">Michiels et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8721588+6384014+15929046+2405024+3977194" 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="#27" class="mim-tip-reference" title="van Genderen, P. J. J., Michiels, J. J., Drenth, J. P. H. <strong>Hereditary erythermalgia and acquired erythromelalgia. (Letter)</strong> Am. J. Med. Genet. 45: 530-531, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465864</a>] [<a href="https://doi.org/10.1002/ajmg.1320450426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465864">Van Genderen et al. (1993)</a> emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot (<a href="#23" class="mim-tip-reference" title="Michiels, J. J., van Joost, T. <strong>Erythromelalgia and thrombocytopenia: a causal relation.</strong> J. Am. Acad. Derm. 22: 107-111, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2405024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2405024</a>] [<a href="https://doi.org/10.1016/s0190-9622(08)80005-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2405024">Michiels and van Joost, 1990</a>). <a href="#27" class="mim-tip-reference" title="van Genderen, P. J. J., Michiels, J. J., Drenth, J. P. H. <strong>Hereditary erythermalgia and acquired erythromelalgia. (Letter)</strong> Am. J. Med. Genet. 45: 530-531, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465864</a>] [<a href="https://doi.org/10.1002/ajmg.1320450426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465864">Van Genderen et al. (1993)</a> noted that 3 of the 5 patients reported by <a href="#26" class="mim-tip-reference" title="Smith, L. A., Allen, F. V. <strong>Erythermalgia (erythromelalgia) of the extremities: a syndrome characterized by redness, heat, and pain.</strong> Am. Heart J. 16: 175-188, 1938."None>Smith and Allen (1938)</a> were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8465864+2405024" 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>Small Fiber Neuropathy</em></strong></p><p>
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Small nerve fiber neuropathy (SFNP) is a relatively common disorder of thinly myelinated and unmyelinated nerve fibers characterized clinically by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the small diameter nerve fibers; large diameter fibers are spared (summary by <a href="#12" class="mim-tip-reference" title="Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. <strong>Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy.</strong> Ann. Neurol. 71: 26-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21698661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21698661</a>] [<a href="https://doi.org/10.1002/ana.22485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21698661">Faber et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21698661" 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="#18" class="mim-tip-reference" title="Mandell, F., Folkman, J., Matsumoto, S. <strong>Erythromelalgia.</strong> Pediatrics 59: 45-48, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/840540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">840540</a>]" pmid="840540">Mandell et al. (1977)</a> reported a child with primary erythermalgia with onset at age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=840540" 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="#13" class="mim-tip-reference" title="Finley, W. H., Lindsey, J. R., Fine, J. D., Dixon, G. A. <strong>Familial primary erythermalgia (erythromelalgia). (Abstract)</strong> Am. J. Hum. Genet. 43: A49 only, 1988."None>Finley et al. (1988)</a> described a family in which autosomal dominant inheritance of primary erythermalgia was supported by the fact that some males had unaffected daughters and an affected man had an affected son. The proband, a 26-year-old white female, had onset of burning feet while walking at age 9 years. Gradually the frequency of episodes, correlated with heat, increased. Humidity seemed to aggravate the symptoms. Relief of pain was achieved by an electric fan blowing on the feet, by putting the feet into a bucket of ice, or by taking large doses of aspirin. The same family had been reported by <a href="#1" class="mim-tip-reference" title="Burbank, M. K., Spittell, J. A., Jr., Fairbairn, J. F., II. <strong>Familial erythromelalgia: genetic and physiologic observations. (Abstract)</strong> J. Lab. Clin. Med. 68: 861 only, 1966."None>Burbank et al. (1966)</a>. <a href="#14" class="mim-tip-reference" title="Finley, W. H., Lindsey, J. R., Jr., Fine, J.-D., Dixon, G. A., Burbank, M. K. <strong>Autosomal dominant erythromelalgia.</strong> Am. J. Med. Genet. 42: 310-315, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536168</a>] [<a href="https://doi.org/10.1002/ajmg.1320420310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1536168">Finley et al. (1992)</a> provided follow-up of the family reported by <a href="#13" class="mim-tip-reference" title="Finley, W. H., Lindsey, J. R., Fine, J. D., Dixon, G. A. <strong>Familial primary erythermalgia (erythromelalgia). (Abstract)</strong> Am. J. Hum. Genet. 43: A49 only, 1988."None>Finley et al. (1988)</a>. There were 29 affected individuals spanning 5 generations. Onset was in early childhood, as early as the first year of life. Affected individuals reported intermittent pain, redness, and burning sensation of the hands and feet that was triggered by exercise, warm weather, and humidity. The episodes seemed to increase in frequency and severity with age. Medical treatment was unsatisfactory. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1536168" 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="#17" class="mim-tip-reference" title="Herskovitz, S., Loh, F., Berger, A. R., Kucherov, M. <strong>Erythromelalgia: association with hereditary sensory neuropathy and response to amitriptyline.</strong> Neurology 43: 621-622, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8451013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8451013</a>] [<a href="https://doi.org/10.1212/wnl.43.3_part_1.621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8451013">Herskovitz et al. (1993)</a> described a 31-year-old man with hereditary sensory neuropathy first manifesting at the age of 18 years and with erythermalgia beginning at the age of 21. The burning pain in the feet occurred episodically especially during the spring and summer months, was precipitated by heat, and was associated with redness or purplish discoloration, warmth, and slight swelling of the feet. It was found that amitriptyline, 75 mg daily, provided marked relief of symptoms. The father was thought to be mildly affected on the basis of pes planus and clinical and nerve conduction studies. Although not described as erythromelalgia, the same situation was described by <a href="#11" class="mim-tip-reference" title="Dyck, P. J., Low, P. A., Stevens, J. C. <strong>'Burning feet' as the only manifestation of dominantly inherited sensory neuropathy.</strong> Mayo Clin. Proc. 58: 426-429, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6575233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6575233</a>]" pmid="6575233">Dyck et al. (1983)</a> in a family with 'burning feet' as the only manifestation of dominantly inherited sensory neuropathy. Their patient required sural nerve biopsy to demonstrate objective neuropathic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8451013+6575233" 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="#21" class="mim-tip-reference" title="Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. <strong>Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7.</strong> Arch. Neurol. 62: 1587-1590, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216943</a>] [<a href="https://doi.org/10.1001/archneur.62.10.1587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16216943">Michiels et al. (2005)</a> reported a Flemish family in which 10 members spanning 4 generations had autosomal dominant primary erythermalgia. Five patients were available for study. Age at onset ranged from 2.5 to 10 years. Episodes were typically elicited by warmth, exercise, or standing, and relief was provided by cold. Attacks were characterized by moderate to severe painful, red, swollen feet; some patients developed skin lesions resulting from repeated exposure to cold water. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216943" 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>Small Fiber Neuropathy</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. <strong>Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy.</strong> Ann. Neurol. 71: 26-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21698661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21698661</a>] [<a href="https://doi.org/10.1002/ana.22485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21698661">Faber et al. (2012)</a> reported 8 unrelated Dutch Caucasian patients with SFNP, 3 of whom reported similar complaints in family members. All 8 patients complained of pain, with onset ranging from 16 to 68 years of age. Most had onset of pain in the distal extremities, usually the feet, but 2 presented with pain throughout the body before affecting distal limbs. Pain was aggravated by warmth in 3, and relieved by cooling only in 1. One patient initially experienced excruciating pain in the teeth/jaw triggered by cold and heat, and pain behind the eyes, which was not relieved by multiple tooth extractions. Most patients reported persistence of the pain or burning over several years to involve the hands, mouth, or body. Seven of 8 patients had autonomic symptoms, including orthostatic dizziness, palpitations, dry eyes, and dry mouth. Two patients had significant gastrointestinal complaints. All had a decrease in skin small diameter nerve fibers below the fifth percentile for controls. All patients had some sort of distally altered temperature sensation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21698661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Devigili, G., Eleopra, R., Pierro, T., Lombardi, R., Rinaldo, S., Lettieri, C., Faber, C. G., Merkies, I. S. J., Waxman, S. G., Lauria, G. <strong>Paroxysmal itch caused by gain-of-function Na(v)1.7 mutation.</strong> Pain 155: 1702-1707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24820863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24820863</a>] [<a href="https://doi.org/10.1016/j.pain.2014.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24820863">Devigili et al. (2014)</a> reported a woman, her sister, and their mother with small fiber neuropathy manifest as paroxysmal intense neuropathic itching and flushing, mainly triggered by warmth and spicy food. The proband developed itching symptoms at age 15 years, and the itch episodes were followed by prolonged burning pain in her thirties. There were no cardiovascular autonomic symptoms. The mother and sister had onset of itching as adults; they too described burning pain and flushing after the itch attacks. All 3 patients showed preferential involvement of the proximal arms, trunk, and neck, and all had impaired superficial sensation in the affected body areas. Skin biopsy in 2 patients showed reduced intraepithelial nerve fiber density. Treatment with pregabalin resulted in excellent relief. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24820863" 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 great variety of therapeutic options have been tested for primary erythermalgia, with mixed results (<a href="#6" class="mim-tip-reference" title="Davis, M. D. P., O'Fallon, W. M., Rogers, R. S., III, Rooke, T. W. <strong>Natural history of erythromelalgia: presentation and outcome in 168 patients.</strong> Arch. Derm. 136: 330-336, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10724194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10724194</a>] [<a href="https://doi.org/10.1001/archderm.136.3.330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10724194">Davis et al., 2000</a>). <a href="#5" class="mim-tip-reference" title="D'Angelo, R., Cohen, I. T., Brandom, B. W. <strong>Continuous epidural infusion of bupivacaine and fentanyl for erythromelalgia in an adolescent.</strong> Anesth. Analg. 74: 142-144, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1734777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1734777</a>]" pmid="1734777">D'Angelo et al. (1992)</a> claimed success with continuous epidural infusion of various combinations of Bupivacaine and morphine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1734777+10724194" 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 4 unrelated patients with genetically confirmed primary erythermalgia, <a href="#15" class="mim-tip-reference" title="Goldberg, Y. P., Price, N., Namdari, R., Cohen, C. J., Lamers, M. H., Winters, C., Price, J., Young, C. E., Verschoof, H., Sherrington, R., Pimstone, S. N., Hayden, M. R. <strong>Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.</strong> Pain 153: 80-85, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22035805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22035805</a>] [<a href="https://doi.org/10.1016/j.pain.2011.09.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22035805">Goldberg et al. (2012)</a> found that treatment with an oral compound (XEN402) that blocks the SCN9A channel significantly attenuated constant or induced pain compared to placebo. The findings underscored the use of rare genetic disorders to develop targeted therapeutics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22035805" 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="#9" class="mim-tip-reference" title="Drenth, J. P. H., Finley, W. H., Breedveld, G. J., Testers, L., Michiels, J. J., Guillet, G., Taieb, A., Kirby, R. L., Heutink, P. <strong>The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.</strong> Am. J. Hum. Genet. 68: 1277-1282, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283792</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11283792[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11283792">Drenth et al. (2001)</a> identified 5 kindreds with multiple cases of primary erythermalgia. By a genomewide search in the largest of these kindreds, they detected strong evidence for linkage of the disorder to markers from chromosome 2q. The highest lod score was obtained with D2S2330; maximum lod = 6.51. Analysis of recombination events identified markers D2S2370 and D2S1776 as flanking the locus on 2q31-q32. This defined a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on 2q31-q32. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11283792" 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 Chinese family segregating primary erythermalgia, <a href="#29" class="mim-tip-reference" title="Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., Wu, G., Jin, J., Ding, B., Zhu, X., Shen, Y. <strong>Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.</strong> J. Med. Genet. 41: 171-174, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985375</a>] [<a href="https://doi.org/10.1136/jmg.2003.012153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985375">Yang et al. (2004)</a> found linkage of the disorder to a 5.98-cM region between D2S2370 and D2S2345. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a Chinese family with primary erythermalgia linked to chromosome 2q and in a sporadic patient, <a href="#29" class="mim-tip-reference" title="Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., Wu, G., Jin, J., Ding, B., Zhu, X., Shen, Y. <strong>Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.</strong> J. Med. Genet. 41: 171-174, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985375</a>] [<a href="https://doi.org/10.1136/jmg.2003.012153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985375">Yang et al. (2004)</a> identified mutations in the SCN9A gene (L858H, <a href="/entry/603415#0001">603415.0001</a>; I848T, <a href="/entry/603415#0002">603415.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985375" 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 5 affected members of a Flemish family with primary erythermalgia, <a href="#21" class="mim-tip-reference" title="Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. <strong>Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7.</strong> Arch. Neurol. 62: 1587-1590, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16216943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16216943</a>] [<a href="https://doi.org/10.1001/archneur.62.10.1587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16216943">Michiels et al. (2005)</a> identified a heterozygous mutation in the SCN9A gene (<a href="/entry/603415#0003">603415.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216943" 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 17 affected members of the family reported by <a href="#14" class="mim-tip-reference" title="Finley, W. H., Lindsey, J. R., Jr., Fine, J.-D., Dixon, G. A., Burbank, M. K. <strong>Autosomal dominant erythromelalgia.</strong> Am. J. Med. Genet. 42: 310-315, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536168</a>] [<a href="https://doi.org/10.1002/ajmg.1320420310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1536168">Finley et al. (1992)</a>, <a href="#8" class="mim-tip-reference" title="Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., Waxman, S. G. <strong>Gain-of-function mutation in Na(v)1.7 in familial erythromelalgia induces bursting of sensory neurons.</strong> Brain 128: 1847-1854, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15958509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15958509</a>] [<a href="https://doi.org/10.1093/brain/awh514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15958509">Dib-Hajj et al. (2005)</a> identified a heterozygous mutation in the SCN9A gene (<a href="/entry/603415#0004">603415.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1536168+15958509" 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>Small Fiber Neuropathy</em></strong></p><p>
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In 8 (28.6%) of 28 patients with biopsy-confirmed small fiber neuropathy, <a href="#12" class="mim-tip-reference" title="Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. <strong>Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy.</strong> Ann. Neurol. 71: 26-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21698661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21698661</a>] [<a href="https://doi.org/10.1002/ana.22485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21698661">Faber et al. (2012)</a> identified a heterozygous gain-of-function mutation in the SCN9A gene (see, e.g., <a href="/entry/603415#0023">603415.0023</a>-<a href="/entry/603415#0025">603415.0025</a>). In vitro functional expression studies in HEK293 cells and dorsal root ganglion neurons showed that all the mutations caused hyperexcitability of dorsal root ganglion neurons, either by impairing slow inactivation, depolarizing slow and fast inactivation, or causing enhanced resurgent currents and increasing the number of action potentials evoked by depolarization. <a href="#12" class="mim-tip-reference" title="Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. <strong>Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy.</strong> Ann. Neurol. 71: 26-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21698661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21698661</a>] [<a href="https://doi.org/10.1002/ana.22485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21698661">Faber et al. (2012)</a> postulated that increased sodium channel activity may also trigger axonal degeneration via calcium-importing reverse sodium-calcium exchange. None of the mutations were the same as those found in primary erythermalgia or paroxysmal extreme pain disorder (PEPD; <a href="/entry/167400">167400</a>). The findings expanded the phenotype associated with SCN9A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21698661" 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 woman, her sister, and their mother with small fiber neuropathy manifest as paroxysmal itching, <a href="#7" class="mim-tip-reference" title="Devigili, G., Eleopra, R., Pierro, T., Lombardi, R., Rinaldo, S., Lettieri, C., Faber, C. G., Merkies, I. S. J., Waxman, S. G., Lauria, G. <strong>Paroxysmal itch caused by gain-of-function Na(v)1.7 mutation.</strong> Pain 155: 1702-1707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24820863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24820863</a>] [<a href="https://doi.org/10.1016/j.pain.2014.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24820863">Devigili et al. (2014)</a> identified a heterozygous missense mutation in the SCN9A gene (I739V; <a href="/entry/603415#0027">603415.0027</a>). In the 3 affected members of the family reported by <a href="#7" class="mim-tip-reference" title="Devigili, G., Eleopra, R., Pierro, T., Lombardi, R., Rinaldo, S., Lettieri, C., Faber, C. G., Merkies, I. S. J., Waxman, S. G., Lauria, G. <strong>Paroxysmal itch caused by gain-of-function Na(v)1.7 mutation.</strong> Pain 155: 1702-1707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24820863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24820863</a>] [<a href="https://doi.org/10.1016/j.pain.2014.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24820863">Devigili et al. (2014)</a>, <a href="#19" class="mim-tip-reference" title="Martinelli-Boneschi, F., Colombi, M., Castori, M., Devigili, G., Eleopra, R., Malik, R. A., Ritelli, M., Zoppi, N., Dordoni, C., Sorosina, M., Grammatico, P., Fadavi, H., and 17 others. <strong>COL6A5 variants in familial neuropathic chronic itch.</strong> Brain 140: 555-567, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28073787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28073787</a>] [<a href="https://doi.org/10.1093/brain/aww343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28073787">Martinelli-Boneschi et al. (2017)</a> identified a heterozygous missense variant, R2162S (c.6486G-C, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368345789;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs368345789</a>), in the COL6A5 gene (<a href="/entry/611916">611916</a>). The variant, which was found by whole-exome sequencing, segregated with the disorder in the family; it was present at a low frequency in the ExAC and gnomAD databases (2.5 x 10(-5)). Functional studies of the R2162S variant were not performed, but the authors postulated that the COL6A5 variant may have contributed to the phenotype. <a href="#19" class="mim-tip-reference" title="Martinelli-Boneschi, F., Colombi, M., Castori, M., Devigili, G., Eleopra, R., Malik, R. A., Ritelli, M., Zoppi, N., Dordoni, C., Sorosina, M., Grammatico, P., Fadavi, H., and 17 others. <strong>COL6A5 variants in familial neuropathic chronic itch.</strong> Brain 140: 555-567, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28073787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28073787</a>] [<a href="https://doi.org/10.1093/brain/aww343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28073787">Martinelli-Boneschi et al. (2017)</a> noted that the mother in the family developed dysautonomic symptoms, including cardiovascular and sympathetic cholinergic impairment, which may have been related to the SCN9A mutation. In addition, none of the 3 patients demonstrated length-dependent distribution of symptoms that usually occurs in small fiber neuropathy, and 1 of the 3 did not have small fiber neuropathy on skin biopsy. The itch in all patients responded well to gabapentin treatment. The contribution of each variant to the phenotype was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24820863+28073787" 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="#4" class="mim-tip-reference" title="Cummins, T. R., Dib-Hajj, S. D., Waxman, S. G. <strong>Electrophysiological properties of mutant Na(v)1.7 sodium channels in a painful inherited neuropathy.</strong> J. Neurosci. 24: 8232-8236, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15385606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15385606</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.2695-04.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15385606">Cummins et al. (2004)</a> demonstrated by functional expression studies that L858H and I848T mutant SCN9A channels were activated at more negative potentials and approximately 10-fold and 3-fold slower inactivation kinetics, respectively, than wildtype channels. The findings indicated that the mutant channel confers hyperexcitability to peripheral sensory and sympathetic neurons, contributing to symptom production in erythermalgia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15385606" 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="#16" class="mim-tip-reference" title="Han, C., Hoeijmakers, J. G. J., Liu, S., Gerrits, M. M., te Morsche, R. H. M., Lauria, G., Dib-Hajj, S. D., Drenth, J. P. H., Faber, C. G., Merkies, I. S. J., Waxman, S. G. <strong>Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.</strong> Brain 135: 2613-2628, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22826602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22826602</a>] [<a href="https://doi.org/10.1093/brain/aws187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22826602">Han et al. (2012)</a> found that 2 patients with small fiber neuropathy without prominent autonomic symptoms reported by <a href="#12" class="mim-tip-reference" title="Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. <strong>Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy.</strong> Ann. Neurol. 71: 26-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21698661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21698661</a>] [<a href="https://doi.org/10.1002/ana.22485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21698661">Faber et al. (2012)</a> carried the same heterozygous R185H mutation in the SCN9A gene (<a href="/entry/603415#0026">603415.0026</a>). Three additional patients with small fiber neuropathy and severe autonomic dysfunction carried a heterozygous I739V mutation (<a href="/entry/603415#0027">603415.0027</a>). In vitro functional expression assays showed that the R185H mutation rendered dorsal root ganglion neurons hyperexcitable and enhanced resurgent currents, but did not produce detectable changes in sympathetic neurons of the superior cervical ganglion. The I739V mutation impaired channel slow inactivation in both dorsal root ganglion cells and sympathetic neurons of the superior cervical ganglion, and rendered dorsal root ganglion neurons hyperexcitable. In contrast to R185H, I739V rendered superior ganglion neurons hypoexcitable. <a href="#16" class="mim-tip-reference" title="Han, C., Hoeijmakers, J. G. J., Liu, S., Gerrits, M. M., te Morsche, R. H. M., Lauria, G., Dib-Hajj, S. D., Drenth, J. P. H., Faber, C. G., Merkies, I. S. J., Waxman, S. G. <strong>Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.</strong> Brain 135: 2613-2628, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22826602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22826602</a>] [<a href="https://doi.org/10.1093/brain/aws187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22826602">Han et al. (2012)</a> suggested that the effects of the mutation on 2 different types of neurons correlated with the symptoms of pain and the variable autonomic dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21698661+22826602" 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>Erythromelalgia was first described and named by S. Weir <a href="#24" class="mim-tip-reference" title="Mitchell, S. W. <strong>On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded.</strong> Am. J. Med. Sci. 76: 2-36, 1878."None>Mitchell (1878)</a>.</p><p><a href="#2" class="mim-tip-reference" title="Cross, E. G. <strong>The familial occurrence of erythromelalgia and nephritis.</strong> Canad. Med. Assoc. J. 87: 1 only, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13882378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13882378</a>]" pmid="13882378">Cross (1962)</a> described a family in which members of 4 generations had renal disease, and the males had erythromelalgia as well. Two females had erythromelalgia without renal disease, and 1 female who was thought not to have renal disease had a son with both erythromelalgia and renal disease. It appeared that the renal disease was more severe in the males than in the females. It turned out that the family of <a href="#2" class="mim-tip-reference" title="Cross, E. G. <strong>The familial occurrence of erythromelalgia and nephritis.</strong> Canad. Med. Assoc. J. 87: 1 only, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13882378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13882378</a>]" pmid="13882378">Cross (1962)</a> in fact had Fabry disease (<a href="/entry/301500">301500</a>), a diagnosis first made by David Wise, who visited Cross and studied the family in 1962 (<a href="#3" class="mim-tip-reference" title="Cross, E. G. <strong>Personal Communication.</strong> Toronto, Ontario, Canada 1/12/1989."None>Cross, 1989</a>). The family and a second one from Toronto were included in the study of <a href="#25" class="mim-tip-reference" title="Opitz, J. M., Stiles, F. C., Wise, D., Race, R. R., Sanger, R., Von Gemmingen, G. R., Kierland, R. R., Cross, E. G., De Groot, W. P. <strong>The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xg locus.</strong> Am. J. Hum. Genet. 17: 325-342, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948499</a>]" pmid="17948499">Opitz et al. (1965)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13882378+17948499" 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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Burbank, M. K., Spittell, J. A., Jr., Fairbairn, J. F., II.
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<strong>Familial erythromelalgia: genetic and physiologic observations. (Abstract)</strong>
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J. Lab. Clin. Med. 68: 861 only, 1966.
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<strong>The familial occurrence of erythromelalgia and nephritis.</strong>
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Canad. Med. Assoc. J. 87: 1 only, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13882378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13882378</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13882378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Toronto, Ontario, Canada 1/12/1989.
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Cummins, T. R., Dib-Hajj, S. D., Waxman, S. G.
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<strong>Electrophysiological properties of mutant Na(v)1.7 sodium channels in a painful inherited neuropathy.</strong>
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J. Neurosci. 24: 8232-8236, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15385606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15385606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15385606" 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/10.1523/JNEUROSCI.2695-04.2004" target="_blank">Full Text</a>]
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D'Angelo, R., Cohen, I. T., Brandom, B. W.
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<strong>Continuous epidural infusion of bupivacaine and fentanyl for erythromelalgia in an adolescent.</strong>
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Anesth. Analg. 74: 142-144, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1734777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1734777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1734777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Davis, M. D. P., O'Fallon, W. M., Rogers, R. S., III, Rooke, T. W.
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<strong>Natural history of erythromelalgia: presentation and outcome in 168 patients.</strong>
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Arch. Derm. 136: 330-336, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10724194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10724194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10724194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archderm.136.3.330" target="_blank">Full Text</a>]
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Devigili, G., Eleopra, R., Pierro, T., Lombardi, R., Rinaldo, S., Lettieri, C., Faber, C. G., Merkies, I. S. J., Waxman, S. G., Lauria, G.
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<strong>Paroxysmal itch caused by gain-of-function Na(v)1.7 mutation.</strong>
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Pain 155: 1702-1707, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24820863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24820863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24820863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.pain.2014.05.006" target="_blank">Full Text</a>]
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Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., Waxman, S. G.
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<strong>Gain-of-function mutation in Na(v)1.7 in familial erythromelalgia induces bursting of sensory neurons.</strong>
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Brain 128: 1847-1854, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15958509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15958509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15958509" 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/awh514" target="_blank">Full Text</a>]
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Drenth, J. P. H., Finley, W. H., Breedveld, G. J., Testers, L., Michiels, J. J., Guillet, G., Taieb, A., Kirby, R. L., Heutink, P.
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<strong>The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.</strong>
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Am. J. Hum. Genet. 68: 1277-1282, 2001.
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[<a href="https://doi.org/10.1086/320107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420310" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Waxman, S. G., Dib-Hajj, S. D.
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<strong>Erythromelalgia: a hereditary pain syndrome enters the molecular era.</strong>
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Ann. Neurol. 57: 785-788, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15929046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15929046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15929046" 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.20511" target="_blank">Full Text</a>]
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Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., Wu, G., Jin, J., Ding, B., Zhu, X., Shen, Y.
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<strong>Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.</strong>
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J. Med. Genet. 41: 171-174, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2003.012153" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 05/19/2020
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Cassandra L. Kniffin - updated : 10/28/2014<br>Cassandra L. Kniffin - updated : 12/5/2011<br>Cassandra L. Kniffin - updated : 10/19/2006<br>Cassandra L. Kniffin - updated : 6/15/2006<br>Cassandra L. Kniffin - updated : 6/8/2006<br>Cassandra L. Kniffin - updated : 8/31/2005<br>Cassandra L. Kniffin - updated : 8/19/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Natalie E. Krasikov - updated : 5/11/2004<br>Victor A. McKusick - updated : 6/15/2001
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/11/1988
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carol : 05/27/2020
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alopez : 05/26/2020<br>ckniffin : 05/19/2020<br>carol : 08/11/2016<br>carol : 06/23/2016<br>mcolton : 6/1/2015<br>carol : 11/10/2014<br>mcolton : 10/30/2014<br>ckniffin : 10/28/2014<br>terry : 4/30/2012<br>carol : 12/5/2011<br>ckniffin : 12/5/2011<br>wwang : 10/25/2006<br>ckniffin : 10/19/2006<br>carol : 6/22/2006<br>ckniffin : 6/15/2006<br>ckniffin : 6/8/2006<br>terry : 12/13/2005<br>wwang : 8/31/2005<br>wwang : 8/19/2005<br>ckniffin : 8/18/2005<br>carol : 5/11/2004<br>joanna : 3/19/2004<br>mcapotos : 12/27/2001<br>cwells : 6/27/2001<br>terry : 6/15/2001<br>mimadm : 9/24/1994<br>warfield : 4/20/1994<br>carol : 1/24/1994<br>carol : 7/22/1993<br>carol : 3/1/1993<br>carol : 2/25/1993
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<span class="mim-font">
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<strong>#</strong> 133020
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</h3>
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<div>
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<h3>
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ERYTHERMALGIA, PRIMARY
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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ERYTHROMELALGIA, PRIMARY<br />
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ERYTHROMELALGIA, FAMILIAL
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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NEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED
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<strong>SNOMEDCT:</strong> 403390002, 709489006;
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<strong>ORPHA:</strong> 306577, 90026;
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<strong>DO:</strong> 9240;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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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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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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2q24.3
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<span class="mim-font">
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Small fiber neuropathy
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<span class="mim-font">
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133020
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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SCN9A
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<span class="mim-font">
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603415
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<span class="mim-font">
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2q24.3
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<span class="mim-font">
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Erythermalgia, primary
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<span class="mim-font">
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133020
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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SCN9A
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<span class="mim-font">
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603415
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because primary erythermalgia is caused by heterozygous mutation in the SCN9A gene (603415), encoding a voltage-gated sodium channel, on chromosome 2q24.</p><p>Small fiber neuropathy can also be caused by heterozygous mutation in the SCN9A gene.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>'Primary erythermalgia' is an autosomal dominant disorder characterized by childhood or adolescent onset of episodic symmetrical red congestion, vasodilatation, and burning pain of the feet and lower legs provoked by exercise, long standing, and exposure to warmth. Relief is obtained with cold (Michiels et al., 2005). The severity of the disorder may progress with age, and symptoms may extend over a larger body area, such as over the ankles and lower legs, and become constant (Mandell et al., 1977). </p><p>Waxman and Dib-Hajj (2005) provided a review of primary erythermalgia. </p><p>Although 'primary' or 'familial erythromelalgia' are sometimes used as alternative terms for primary erythermalgia (Waxman and Dib-Hajj, 2005), secondary erythromelalgia is a distinct acquired disorder associated with thrombocythemia or myeloproliferative disorders. It has relatively late onset and symptoms are caused by platelet aggregation in end-arteriolar circulation, leading to ischemia and symptoms (Michiels and van Joost, 1990). Treatment with aspirin, which irreversibly inhibits platelet cyclooxygenase activity, affords relief from acquired erythromelalgia (Michiels et al., 1984; Drenth et al., 1996). Similarly, acquired erythromelalgia vanishes with lowering the platelet count to normal with chemotherapy (Michiels et al., 1985). </p><p>Van Genderen et al. (1993) emphasized the distinction between hereditary erythermalgia and acquired erythromelalgia. In primary erythermalgia, the burning pain, redness, and warmth of feet and lower legs, with relative sparing of the toes, are easily provoked by warmth and exercise. In contrast, in acquired erythromelalgia the burning pain and red congestion preferentially involves one or more toes or fingers or sole of the forefoot (Michiels and van Joost, 1990). Van Genderen et al. (1993) noted that 3 of the 5 patients reported by Smith and Allen (1938) were not consistent with the diagnosis of primary erythromelalgia because the symptoms were relieved promptly by aspirin, consistent with acquired erythromelalgia. </p><p><strong><em>Small Fiber Neuropathy</em></strong></p><p>
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Small nerve fiber neuropathy (SFNP) is a relatively common disorder of thinly myelinated and unmyelinated nerve fibers characterized clinically by adult onset of neuropathic pain, often of a burning quality, and autonomic symptoms. Affected individuals have reduced intraepidermal nerve fiber density affecting the small diameter nerve fibers; large diameter fibers are spared (summary by Faber et al., 2012). </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mandell et al. (1977) reported a child with primary erythermalgia with onset at age 3 years. </p><p>Finley et al. (1988) described a family in which autosomal dominant inheritance of primary erythermalgia was supported by the fact that some males had unaffected daughters and an affected man had an affected son. The proband, a 26-year-old white female, had onset of burning feet while walking at age 9 years. Gradually the frequency of episodes, correlated with heat, increased. Humidity seemed to aggravate the symptoms. Relief of pain was achieved by an electric fan blowing on the feet, by putting the feet into a bucket of ice, or by taking large doses of aspirin. The same family had been reported by Burbank et al. (1966). Finley et al. (1992) provided follow-up of the family reported by Finley et al. (1988). There were 29 affected individuals spanning 5 generations. Onset was in early childhood, as early as the first year of life. Affected individuals reported intermittent pain, redness, and burning sensation of the hands and feet that was triggered by exercise, warm weather, and humidity. The episodes seemed to increase in frequency and severity with age. Medical treatment was unsatisfactory. </p><p>Herskovitz et al. (1993) described a 31-year-old man with hereditary sensory neuropathy first manifesting at the age of 18 years and with erythermalgia beginning at the age of 21. The burning pain in the feet occurred episodically especially during the spring and summer months, was precipitated by heat, and was associated with redness or purplish discoloration, warmth, and slight swelling of the feet. It was found that amitriptyline, 75 mg daily, provided marked relief of symptoms. The father was thought to be mildly affected on the basis of pes planus and clinical and nerve conduction studies. Although not described as erythromelalgia, the same situation was described by Dyck et al. (1983) in a family with 'burning feet' as the only manifestation of dominantly inherited sensory neuropathy. Their patient required sural nerve biopsy to demonstrate objective neuropathic abnormalities. </p><p>Michiels et al. (2005) reported a Flemish family in which 10 members spanning 4 generations had autosomal dominant primary erythermalgia. Five patients were available for study. Age at onset ranged from 2.5 to 10 years. Episodes were typically elicited by warmth, exercise, or standing, and relief was provided by cold. Attacks were characterized by moderate to severe painful, red, swollen feet; some patients developed skin lesions resulting from repeated exposure to cold water. </p><p><strong><em>Small Fiber Neuropathy</em></strong></p><p>
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Faber et al. (2012) reported 8 unrelated Dutch Caucasian patients with SFNP, 3 of whom reported similar complaints in family members. All 8 patients complained of pain, with onset ranging from 16 to 68 years of age. Most had onset of pain in the distal extremities, usually the feet, but 2 presented with pain throughout the body before affecting distal limbs. Pain was aggravated by warmth in 3, and relieved by cooling only in 1. One patient initially experienced excruciating pain in the teeth/jaw triggered by cold and heat, and pain behind the eyes, which was not relieved by multiple tooth extractions. Most patients reported persistence of the pain or burning over several years to involve the hands, mouth, or body. Seven of 8 patients had autonomic symptoms, including orthostatic dizziness, palpitations, dry eyes, and dry mouth. Two patients had significant gastrointestinal complaints. All had a decrease in skin small diameter nerve fibers below the fifth percentile for controls. All patients had some sort of distally altered temperature sensation. </p><p>Devigili et al. (2014) reported a woman, her sister, and their mother with small fiber neuropathy manifest as paroxysmal intense neuropathic itching and flushing, mainly triggered by warmth and spicy food. The proband developed itching symptoms at age 15 years, and the itch episodes were followed by prolonged burning pain in her thirties. There were no cardiovascular autonomic symptoms. The mother and sister had onset of itching as adults; they too described burning pain and flushing after the itch attacks. All 3 patients showed preferential involvement of the proximal arms, trunk, and neck, and all had impaired superficial sensation in the affected body areas. Skin biopsy in 2 patients showed reduced intraepithelial nerve fiber density. Treatment with pregabalin resulted in excellent relief. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>A great variety of therapeutic options have been tested for primary erythermalgia, with mixed results (Davis et al., 2000). D'Angelo et al. (1992) claimed success with continuous epidural infusion of various combinations of Bupivacaine and morphine. </p><p>In 4 unrelated patients with genetically confirmed primary erythermalgia, Goldberg et al. (2012) found that treatment with an oral compound (XEN402) that blocks the SCN9A channel significantly attenuated constant or induced pain compared to placebo. The findings underscored the use of rare genetic disorders to develop targeted therapeutics. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Drenth et al. (2001) identified 5 kindreds with multiple cases of primary erythermalgia. By a genomewide search in the largest of these kindreds, they detected strong evidence for linkage of the disorder to markers from chromosome 2q. The highest lod score was obtained with D2S2330; maximum lod = 6.51. Analysis of recombination events identified markers D2S2370 and D2S1776 as flanking the locus on 2q31-q32. This defined a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on 2q31-q32. </p><p>In a Chinese family segregating primary erythermalgia, Yang et al. (2004) found linkage of the disorder to a 5.98-cM region between D2S2370 and D2S2345. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a Chinese family with primary erythermalgia linked to chromosome 2q and in a sporadic patient, Yang et al. (2004) identified mutations in the SCN9A gene (L858H, 603415.0001; I848T, 603415.0002). </p><p>In 5 affected members of a Flemish family with primary erythermalgia, Michiels et al. (2005) identified a heterozygous mutation in the SCN9A gene (603415.0003). </p><p>In 17 affected members of the family reported by Finley et al. (1992), Dib-Hajj et al. (2005) identified a heterozygous mutation in the SCN9A gene (603415.0004). </p><p><strong><em>Small Fiber Neuropathy</em></strong></p><p>
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In 8 (28.6%) of 28 patients with biopsy-confirmed small fiber neuropathy, Faber et al. (2012) identified a heterozygous gain-of-function mutation in the SCN9A gene (see, e.g., 603415.0023-603415.0025). In vitro functional expression studies in HEK293 cells and dorsal root ganglion neurons showed that all the mutations caused hyperexcitability of dorsal root ganglion neurons, either by impairing slow inactivation, depolarizing slow and fast inactivation, or causing enhanced resurgent currents and increasing the number of action potentials evoked by depolarization. Faber et al. (2012) postulated that increased sodium channel activity may also trigger axonal degeneration via calcium-importing reverse sodium-calcium exchange. None of the mutations were the same as those found in primary erythermalgia or paroxysmal extreme pain disorder (PEPD; 167400). The findings expanded the phenotype associated with SCN9A mutations. </p><p>In a woman, her sister, and their mother with small fiber neuropathy manifest as paroxysmal itching, Devigili et al. (2014) identified a heterozygous missense mutation in the SCN9A gene (I739V; 603415.0027). In the 3 affected members of the family reported by Devigili et al. (2014), Martinelli-Boneschi et al. (2017) identified a heterozygous missense variant, R2162S (c.6486G-C, rs368345789), in the COL6A5 gene (611916). The variant, which was found by whole-exome sequencing, segregated with the disorder in the family; it was present at a low frequency in the ExAC and gnomAD databases (2.5 x 10(-5)). Functional studies of the R2162S variant were not performed, but the authors postulated that the COL6A5 variant may have contributed to the phenotype. Martinelli-Boneschi et al. (2017) noted that the mother in the family developed dysautonomic symptoms, including cardiovascular and sympathetic cholinergic impairment, which may have been related to the SCN9A mutation. In addition, none of the 3 patients demonstrated length-dependent distribution of symptoms that usually occurs in small fiber neuropathy, and 1 of the 3 did not have small fiber neuropathy on skin biopsy. The itch in all patients responded well to gabapentin treatment. The contribution of each variant to the phenotype was unclear. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cummins et al. (2004) demonstrated by functional expression studies that L858H and I848T mutant SCN9A channels were activated at more negative potentials and approximately 10-fold and 3-fold slower inactivation kinetics, respectively, than wildtype channels. The findings indicated that the mutant channel confers hyperexcitability to peripheral sensory and sympathetic neurons, contributing to symptom production in erythermalgia. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Han et al. (2012) found that 2 patients with small fiber neuropathy without prominent autonomic symptoms reported by Faber et al. (2012) carried the same heterozygous R185H mutation in the SCN9A gene (603415.0026). Three additional patients with small fiber neuropathy and severe autonomic dysfunction carried a heterozygous I739V mutation (603415.0027). In vitro functional expression assays showed that the R185H mutation rendered dorsal root ganglion neurons hyperexcitable and enhanced resurgent currents, but did not produce detectable changes in sympathetic neurons of the superior cervical ganglion. The I739V mutation impaired channel slow inactivation in both dorsal root ganglion cells and sympathetic neurons of the superior cervical ganglion, and rendered dorsal root ganglion neurons hyperexcitable. In contrast to R185H, I739V rendered superior ganglion neurons hypoexcitable. Han et al. (2012) suggested that the effects of the mutation on 2 different types of neurons correlated with the symptoms of pain and the variable autonomic dysfunction. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Erythromelalgia was first described and named by S. Weir Mitchell (1878).</p><p>Cross (1962) described a family in which members of 4 generations had renal disease, and the males had erythromelalgia as well. Two females had erythromelalgia without renal disease, and 1 female who was thought not to have renal disease had a son with both erythromelalgia and renal disease. It appeared that the renal disease was more severe in the males than in the females. It turned out that the family of Cross (1962) in fact had Fabry disease (301500), a diagnosis first made by David Wise, who visited Cross and studied the family in 1962 (Cross, 1989). The family and a second one from Toronto were included in the study of Opitz et al. (1965). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<strong>Familial erythromelalgia: genetic and physiologic observations. (Abstract)</strong>
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J. Lab. Clin. Med. 68: 861 only, 1966.
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<p class="mim-text-font">
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Cross, E. G.
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<strong>The familial occurrence of erythromelalgia and nephritis.</strong>
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Canad. Med. Assoc. J. 87: 1 only, 1962.
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<p class="mim-text-font">
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Cross, E. G.
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<strong>Personal Communication.</strong>
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Toronto, Ontario, Canada 1/12/1989.
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Cummins, T. R., Dib-Hajj, S. D., Waxman, S. G.
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<strong>Electrophysiological properties of mutant Na(v)1.7 sodium channels in a painful inherited neuropathy.</strong>
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<strong>Gain-of-function mutation in Na(v)1.7 in familial erythromelalgia induces bursting of sensory neurons.</strong>
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<strong>The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.</strong>
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Dyck, P. J., Low, P. A., Stevens, J. C.
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Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J.
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Goldberg, Y. P., Price, N., Namdari, R., Cohen, C. J., Lamers, M. H., Winters, C., Price, J., Young, C. E., Verschoof, H., Sherrington, R., Pimstone, S. N., Hayden, M. R.
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Mandell, F., Folkman, J., Matsumoto, S.
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<strong>Erythromelalgia.</strong>
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Pediatrics 59: 45-48, 1977.
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Martinelli-Boneschi, F., Colombi, M., Castori, M., Devigili, G., Eleopra, R., Malik, R. A., Ritelli, M., Zoppi, N., Dordoni, C., Sorosina, M., Grammatico, P., Fadavi, H., and 17 others.
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Michiels, J. J., Abels, J., Steketee, J., van Vliet, H. H. D. M., Vuzevski, V. D.
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<strong>Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia.</strong>
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Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H.
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<strong>Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7.</strong>
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Michiels, J. J., ten Kate, F. W. J., Vuzevski, V. D., Abels, J.
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<strong>Histopathology of erythromelalgia in thrombocythaemia.</strong>
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Histopathology 8: 669-678, 1984.
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Michiels, J. J., van Joost, T.
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<strong>Erythromelalgia and thrombocytopenia: a causal relation.</strong>
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J. Am. Acad. Derm. 22: 107-111, 1990.
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<p class="mim-text-font">
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<strong>On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded.</strong>
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Am. J. Med. Sci. 76: 2-36, 1878.
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<p class="mim-text-font">
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Opitz, J. M., Stiles, F. C., Wise, D., Race, R. R., Sanger, R., Von Gemmingen, G. R., Kierland, R. R., Cross, E. G., De Groot, W. P.
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<strong>The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage relations with the Xg locus.</strong>
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Am. J. Hum. Genet. 17: 325-342, 1965.
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[PubMed: 17948499]
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<p class="mim-text-font">
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Smith, L. A., Allen, F. V.
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<strong>Erythermalgia (erythromelalgia) of the extremities: a syndrome characterized by redness, heat, and pain.</strong>
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Am. Heart J. 16: 175-188, 1938.
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van Genderen, P. J. J., Michiels, J. J., Drenth, J. P. H.
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<strong>Hereditary erythermalgia and acquired erythromelalgia. (Letter)</strong>
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Am. J. Med. Genet. 45: 530-531, 1993.
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[PubMed: 8465864]
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[Full Text: https://doi.org/10.1002/ajmg.1320450426]
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Waxman, S. G., Dib-Hajj, S. D.
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<strong>Erythromelalgia: a hereditary pain syndrome enters the molecular era.</strong>
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Ann. Neurol. 57: 785-788, 2005.
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[PubMed: 15929046]
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[Full Text: https://doi.org/10.1002/ana.20511]
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Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., Wu, G., Jin, J., Ding, B., Zhu, X., Shen, Y.
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<strong>Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.</strong>
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J. Med. Genet. 41: 171-174, 2004.
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[PubMed: 14985375]
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[Full Text: https://doi.org/10.1136/jmg.2003.012153]
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Cassandra L. Kniffin - updated : 05/19/2020<br>Cassandra L. Kniffin - updated : 10/28/2014<br>Cassandra L. Kniffin - updated : 12/5/2011<br>Cassandra L. Kniffin - updated : 10/19/2006<br>Cassandra L. Kniffin - updated : 6/15/2006<br>Cassandra L. Kniffin - updated : 6/8/2006<br>Cassandra L. Kniffin - updated : 8/31/2005<br>Cassandra L. Kniffin - updated : 8/19/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Natalie E. Krasikov - updated : 5/11/2004<br>Victor A. McKusick - updated : 6/15/2001
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Victor A. McKusick : 10/11/1988
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carol : 05/27/2020<br>alopez : 05/26/2020<br>ckniffin : 05/19/2020<br>carol : 08/11/2016<br>carol : 06/23/2016<br>mcolton : 6/1/2015<br>carol : 11/10/2014<br>mcolton : 10/30/2014<br>ckniffin : 10/28/2014<br>terry : 4/30/2012<br>carol : 12/5/2011<br>ckniffin : 12/5/2011<br>wwang : 10/25/2006<br>ckniffin : 10/19/2006<br>carol : 6/22/2006<br>ckniffin : 6/15/2006<br>ckniffin : 6/8/2006<br>terry : 12/13/2005<br>wwang : 8/31/2005<br>wwang : 8/19/2005<br>ckniffin : 8/18/2005<br>carol : 5/11/2004<br>joanna : 3/19/2004<br>mcapotos : 12/27/2001<br>cwells : 6/27/2001<br>terry : 6/15/2001<br>mimadm : 9/24/1994<br>warfield : 4/20/1994<br>carol : 1/24/1994<br>carol : 7/22/1993<br>carol : 3/1/1993<br>carol : 2/25/1993
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