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Entry
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- #134610 - FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
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- OMIM
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<p>
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<span class="h4">#134610</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/134610"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=920&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1227/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8401" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=134610[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=342" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:2987" 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/134610" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2987" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 342<br />
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<strong>DO:</strong> 2987<br />
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">ICD+</a>
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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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134610
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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FMF, AUTOSOMAL DOMINANT
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/138?start=-3&limit=10&highlight=138">
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16p13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Familial Mediterranean fever, AD
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/134610"> 134610 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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MEFV
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<td>
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<span class="mim-font">
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<a href="/entry/608107"> 608107 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/134610" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/134610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/134610" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> RESPIRATORY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Lung </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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|
|
- Pleuritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/196075003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">196075003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R09.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R09.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">511</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002102</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002102</a>]</span><br /> -
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Thoracic pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29857009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29857009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R07.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R07.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/786.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008031</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</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>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Gastrointestinal </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Peritonitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48661000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48661000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K65" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K65</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/567.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">567.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031154</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002586</a>]</span><br /> -
|
|
Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </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> Kidneys </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Renal amyloidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48713002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48713002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268382</a>, <a href="https://bioportal.bioontology.org/search?q=C1416945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1416945</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001917</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001917</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
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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> SKELETAL </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Migratory arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111211002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111211002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240344</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033037</a>]</span><br /> -
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Polyarticular arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417373000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417373000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416956002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416956002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M13.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M05-M14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M05-M14</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M06.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M06.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/714.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">714.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005764</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005764" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005764</a>]</span><br /> -
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Arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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<span class="h5 mim-font">
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<em> Skin </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Transient erysipelas-like erythematous rash <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851349</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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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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- Fever, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77957000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77957000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277799&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277799</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.60</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span><br /> -
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Fever episodes last from 3 to 10 days <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851354</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased serum C-reactive protein (CRP, <a href="/entry/123260">123260</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678466</a>]</span><br />
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</span>
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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 style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood or adolescence<br /> -
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Colchicine treatment is not effective<br /> -
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Favorable response to antibodies against TNF-alpha (TNFA, <a href="/entry/191160">191160</a>)<br /> -
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See also autosomal recessive familial Mediterranean fever (FMF, <a href="/entry/249100">249100</a>)<br />
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</span>
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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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- Caused by mutation in the pyrin gene (MEFV, <a href="/entry/608107#0018">608107.0018</a>)<br />
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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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<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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant familial Mediterranean fever is caused by heterozygous mutation in the MEFV gene (<a href="/entry/608107">608107</a>) on chromosome 16p13.</p><p>Heterozygous mutation in the MEFV gene can also cause acute febrile neutrophilic dermatosis (AFND; <a href="/entry/608068">608068</a>), which shows some overlapping features.</p><p>Homozygous or compound heterozygous mutations in the MEFV gene result in classic familial Mediterranean fever (FMF; <a href="/entry/249100">249100</a>), which shows autosomal recessive inheritance.</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#2" class="mim-tip-reference" title="Bergman, F., Warmenius, S. <strong>Familial perireticular amyloidosis in a Swedish family.</strong> Am. J. Med. 45: 601-606, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5678100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5678100</a>] [<a href="https://doi.org/10.1016/0002-9343(68)90174-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5678100">Bergman and Warmenius (1968)</a> described a Swedish family in which 4 individuals had recurrent fever and abdominal pain that persisted for 7 to 14 days. Death from renal failure occurred at ages 19, 21, 33, and 58 years. Renal deposition of amyloid was demonstrated in 2 of the 4 patients in whom postmortem examination was performed. The amyloid was described as perireticular and morphologically identical to that seen in FMF. The inheritance pattern was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5678100" 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="Reich, C. B., Franklin, E. C. <strong>Familial Mediterranean fever in an Italian family.</strong> Arch. Intern. Med. 125: 337-340, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5412026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5412026</a>]" pmid="5412026">Reich and Franklin (1970)</a> described a 79-year-old Sicilian man with intestinal amyloidosis whose daughter and granddaughter had attacks of fever and abdominal pain. The daughter died at age 26 years and the granddaughter at age 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5412026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gertz, M. A., Petitt, R. M., Kyle, R. A. <strong>Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.</strong> Mayo Clin. Proc. 62: 1095-1100, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3682954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3682954</a>] [<a href="https://doi.org/10.1016/s0025-6196(12)62502-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3682954">Gertz et al. (1987)</a> described a nonconsanguineous, non-Jewish, American family of German descent in which in 4 persons in 3 generations developed amyloidosis with onset of symptoms between the ages of 15 and 34 years. The 4 individuals involved were grandmother, mother, and son and daughter. They had attacks of a character entirely consistent with FMF. Unlike typical FMF, colchicine had no influence on the attacks and did not prevent amyloidosis in the 3 patients who received this treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3682954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Karenko, L., Pettersson, T., Roberts, P. <strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong> J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1402641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1402641</a>] [<a href="https://doi.org/10.1111/j.1365-2796.1992.tb00600.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1402641">Karenko et al. (1992)</a> described a 23-year-old Finnish man with an 8-year history of recurrent bouts of fever and abdominal pain. His father had been repeatedly investigated because of similar episodes beginning at the age of 24 years, and one of the father's sisters was reported to have had recurrent episodes of fever. No signs of amyloidosis were detected. The authors commented on another Finnish family in which a father and son and possibly the paternal grandmother had an FMF-like syndrome. They also referred to the German family reported by <a href="#5" class="mim-tip-reference" title="Hawle, H., Winckelmann, G., Kortsik, C. St. F. <strong>Familiaeres Mittelmeerfieber in einer deutschen familie.</strong> Dtsch. Med. Wschr. 114: 665-668, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2707135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2707135</a>] [<a href="https://doi.org/10.1055/s-2008-1066652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2707135">Hawle et al. (1989)</a> in which a father and son and 3 cousins had this disorder. <a href="#6" class="mim-tip-reference" title="Karenko, L., Pettersson, T., Roberts, P. <strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong> J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1402641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1402641</a>] [<a href="https://doi.org/10.1111/j.1365-2796.1992.tb00600.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1402641">Karenko et al. (1992)</a> suggested that amyloidosis may not be an invariant feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1402641+2707135" 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="#1" class="mim-tip-reference" title="Aldea, A., Campistol, J. M., Arostegui, J. I., Rius, J., Maso, M., Vives, J., Yague, J. <strong>A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?</strong> Am. J. Med. Genet. 124A: 67-73, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679589</a>] [<a href="https://doi.org/10.1002/ajmg.a.20296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14679589">Aldea et al. (2004)</a> reported a Spanish family in which 5 members spanning 3 generations had a severe form of a FMF-like periodic inflammatory disorder with autosomal dominant inheritance. Age at onset ranged from 9 to 13 years of age with symptom-free intervals ranging from 6 to 12 weeks. Clinical features included high fever, abdominal pain, pleuritis, polyarticular and migratory arthritis, and erysipelas. C-reactive protein (CRP; <a href="/entry/123260">123260</a>) was persistently high in all affected individuals and increased significantly during attacks. Two older individuals developed renal amyloidosis at age 50 and end-stage renal disease 3 years later. Females tended to have a more severe disease course. There was not a favorable response to colchicine, but some patients showed a good response to monoclonal antibodies against TNF-alpha (TNFA; <a href="/entry/191160">191160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679589" 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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<div>
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<a id="inheritance" class="mim-anchor"></a>
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<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<p>The transmission pattern of familial Mediterranean fever in the families reported by <a href="#3" class="mim-tip-reference" title="Booth, D. R., Gillmore, J. D., Lachmann, H. J., Booth, S. E., Bybee, A., Soyturk, M., Akar, S., Pepys, M. B., Tunca, M., Hawkins, P. N. <strong>The genetic basis of autosomal dominant familial Mediterranean fever.</strong> Quart. J. Med. 93: 217-221, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10787449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10787449</a>] [<a href="https://doi.org/10.1093/qjmed/93.4.217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10787449">Booth et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10787449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Booth, D. R., Gillmore, J. D., Lachmann, H. J., Booth, S. E., Bybee, A., Soyturk, M., Akar, S., Pepys, M. B., Tunca, M., Hawkins, P. N. <strong>The genetic basis of autosomal dominant familial Mediterranean fever.</strong> Quart. J. Med. 93: 217-221, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10787449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10787449</a>] [<a href="https://doi.org/10.1093/qjmed/93.4.217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10787449">Booth et al. (2000)</a> reported autosomal dominant inheritance of FMF in 5 unrelated families. A Turkish and an Indian family each had a heterozygous double mutation in the MEFV gene (<a href="/entry/608107#0018">608107.0018</a>) on the same allele, and 3 unrelated British families had a heterozygous deletion in the MEFV gene (<a href="/entry/608107#0019">608107.0019</a>). All affected individuals had the classic FMF phenotype, including favorable response to colchicine. Incomplete penetrance was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10787449" 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 affected members of a Spanish kindred with an autosomal dominant FMF, <a href="#1" class="mim-tip-reference" title="Aldea, A., Campistol, J. M., Arostegui, J. I., Rius, J., Maso, M., Vives, J., Yague, J. <strong>A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?</strong> Am. J. Med. Genet. 124A: 67-73, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679589</a>] [<a href="https://doi.org/10.1002/ajmg.a.20296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14679589">Aldea et al. (2004)</a> identified a heterozygous mutation in the MEFV gene (<a href="/entry/608107#0020">608107.0020</a>). No additional mutations were detected in the MEFV gene or in the TNFRSF1A (<a href="/entry/191190">191190</a>) or CIAS1 (<a href="/entry/606416">606416</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Shohat, M., Magal, N., Shohat, T., Chen, X., Dagan, T., Mimouni, A., Danon, Y., Lotan, R., Ogur, G., Sirin, A., Schlezinger, M., Halpern, G. J., Schwabe, A., Kastner, D., Rotter, J. I., Fischel-Ghodsian, N. <strong>Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between met694-to-val and amyloidosis.</strong> Europ. J. Hum. Genet. 7: 287-292, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234504</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10234504">Shohat et al. (1999)</a> studied the association between amyloidosis and the 4 common mutations in exon 10 of the MEFV gene in a total of 83 FMF families from 3 ethnic groups, North African Jews, Armenians, and Turks. A significant association was found between amyloidosis and the M694V mutation (<a href="/entry/608107#0001">608107.0001</a>). Amyloidosis was present in 18 of 87 homozygous FMF patients (20.7%) and in only 2 of the 41 compound heterozygous FMF patients (4.9%). No patients carrying other mutations had amyloidosis. There was no significant association between the various mutations and the type or severity of the FMF symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10234504" 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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Aldea, A., Campistol, J. M., Arostegui, J. I., Rius, J., Maso, M., Vives, J., Yague, J.
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<strong>A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?</strong>
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Am. J. Med. Genet. 124A: 67-73, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20296" target="_blank">Full Text</a>]
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Bergman, F., Warmenius, S.
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<strong>Familial perireticular amyloidosis in a Swedish family.</strong>
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Am. J. Med. 45: 601-606, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5678100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5678100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5678100" 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/10.1016/0002-9343(68)90174-5" target="_blank">Full Text</a>]
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Booth, D. R., Gillmore, J. D., Lachmann, H. J., Booth, S. E., Bybee, A., Soyturk, M., Akar, S., Pepys, M. B., Tunca, M., Hawkins, P. N.
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<strong>The genetic basis of autosomal dominant familial Mediterranean fever.</strong>
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Quart. J. Med. 93: 217-221, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10787449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10787449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10787449" 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/qjmed/93.4.217" target="_blank">Full Text</a>]
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Gertz, M. A., Petitt, R. M., Kyle, R. A.
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<strong>Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.</strong>
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Mayo Clin. Proc. 62: 1095-1100, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3682954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3682954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3682954" 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/s0025-6196(12)62502-6" target="_blank">Full Text</a>]
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Hawle, H., Winckelmann, G., Kortsik, C. St. F.
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<strong>Familiaeres Mittelmeerfieber in einer deutschen familie.</strong>
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Dtsch. Med. Wschr. 114: 665-668, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2707135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2707135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2707135" 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/10.1055/s-2008-1066652" target="_blank">Full Text</a>]
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Karenko, L., Pettersson, T., Roberts, P.
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<strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong>
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J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1402641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1402641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1402641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2796.1992.tb00600.x" target="_blank">Full Text</a>]
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Reich, C. B., Franklin, E. C.
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<strong>Familial Mediterranean fever in an Italian family.</strong>
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Arch. Intern. Med. 125: 337-340, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5412026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5412026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5412026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shohat, M., Magal, N., Shohat, T., Chen, X., Dagan, T., Mimouni, A., Danon, Y., Lotan, R., Ogur, G., Sirin, A., Schlezinger, M., Halpern, G. J., Schwabe, A., Kastner, D., Rotter, J. I., Fischel-Ghodsian, N.
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<strong>Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between met694-to-val and amyloidosis.</strong>
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Europ. J. Hum. Genet. 7: 287-292, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10234504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10234504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10234504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200303" target="_blank">Full Text</a>]
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Victor A. McKusick : 1/28/1988
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carol : 06/12/2020<br>ckniffin : 06/09/2020<br>carol : 04/28/2011<br>wwang : 3/29/2006<br>ckniffin : 3/15/2006<br>carol : 4/16/2004<br>mgross : 3/17/2004<br>carol : 7/23/1999<br>terry : 7/16/1999<br>alopez : 10/27/1997<br>mimadm : 9/24/1994<br>carol : 12/30/1992<br>carol : 12/22/1992<br>carol : 12/14/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 134610
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FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
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FMF, AUTOSOMAL DOMINANT
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<strong>ORPHA:</strong> 342;
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<strong>DO:</strong> 2987;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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16p13.3
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Familial Mediterranean fever, AD
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<span class="mim-font">
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134610
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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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MEFV
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608107
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant familial Mediterranean fever is caused by heterozygous mutation in the MEFV gene (608107) on chromosome 16p13.</p><p>Heterozygous mutation in the MEFV gene can also cause acute febrile neutrophilic dermatosis (AFND; 608068), which shows some overlapping features.</p><p>Homozygous or compound heterozygous mutations in the MEFV gene result in classic familial Mediterranean fever (FMF; 249100), which shows autosomal recessive inheritance.</p>
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<strong>Clinical Features</strong>
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<p>Bergman and Warmenius (1968) described a Swedish family in which 4 individuals had recurrent fever and abdominal pain that persisted for 7 to 14 days. Death from renal failure occurred at ages 19, 21, 33, and 58 years. Renal deposition of amyloid was demonstrated in 2 of the 4 patients in whom postmortem examination was performed. The amyloid was described as perireticular and morphologically identical to that seen in FMF. The inheritance pattern was autosomal dominant. </p><p>Reich and Franklin (1970) described a 79-year-old Sicilian man with intestinal amyloidosis whose daughter and granddaughter had attacks of fever and abdominal pain. The daughter died at age 26 years and the granddaughter at age 8 years. </p><p>Gertz et al. (1987) described a nonconsanguineous, non-Jewish, American family of German descent in which in 4 persons in 3 generations developed amyloidosis with onset of symptoms between the ages of 15 and 34 years. The 4 individuals involved were grandmother, mother, and son and daughter. They had attacks of a character entirely consistent with FMF. Unlike typical FMF, colchicine had no influence on the attacks and did not prevent amyloidosis in the 3 patients who received this treatment. </p><p>Karenko et al. (1992) described a 23-year-old Finnish man with an 8-year history of recurrent bouts of fever and abdominal pain. His father had been repeatedly investigated because of similar episodes beginning at the age of 24 years, and one of the father's sisters was reported to have had recurrent episodes of fever. No signs of amyloidosis were detected. The authors commented on another Finnish family in which a father and son and possibly the paternal grandmother had an FMF-like syndrome. They also referred to the German family reported by Hawle et al. (1989) in which a father and son and 3 cousins had this disorder. Karenko et al. (1992) suggested that amyloidosis may not be an invariant feature. </p><p>Aldea et al. (2004) reported a Spanish family in which 5 members spanning 3 generations had a severe form of a FMF-like periodic inflammatory disorder with autosomal dominant inheritance. Age at onset ranged from 9 to 13 years of age with symptom-free intervals ranging from 6 to 12 weeks. Clinical features included high fever, abdominal pain, pleuritis, polyarticular and migratory arthritis, and erysipelas. C-reactive protein (CRP; 123260) was persistently high in all affected individuals and increased significantly during attacks. Two older individuals developed renal amyloidosis at age 50 and end-stage renal disease 3 years later. Females tended to have a more severe disease course. There was not a favorable response to colchicine, but some patients showed a good response to monoclonal antibodies against TNF-alpha (TNFA; 191160). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of familial Mediterranean fever in the families reported by Booth et al. (2000) was consistent with autosomal recessive inheritance. </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>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>Booth et al. (2000) reported autosomal dominant inheritance of FMF in 5 unrelated families. A Turkish and an Indian family each had a heterozygous double mutation in the MEFV gene (608107.0018) on the same allele, and 3 unrelated British families had a heterozygous deletion in the MEFV gene (608107.0019). All affected individuals had the classic FMF phenotype, including favorable response to colchicine. Incomplete penetrance was observed. </p><p>In affected members of a Spanish kindred with an autosomal dominant FMF, Aldea et al. (2004) identified a heterozygous mutation in the MEFV gene (608107.0020). No additional mutations were detected in the MEFV gene or in the TNFRSF1A (191190) or CIAS1 (606416) genes. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Shohat et al. (1999) studied the association between amyloidosis and the 4 common mutations in exon 10 of the MEFV gene in a total of 83 FMF families from 3 ethnic groups, North African Jews, Armenians, and Turks. A significant association was found between amyloidosis and the M694V mutation (608107.0001). Amyloidosis was present in 18 of 87 homozygous FMF patients (20.7%) and in only 2 of the 41 compound heterozygous FMF patients (4.9%). No patients carrying other mutations had amyloidosis. There was no significant association between the various mutations and the type or severity of the FMF symptoms. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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<ol>
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Aldea, A., Campistol, J. M., Arostegui, J. I., Rius, J., Maso, M., Vives, J., Yague, J.
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<strong>A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?</strong>
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Am. J. Med. Genet. 124A: 67-73, 2004.
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[PubMed: 14679589]
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[Full Text: https://doi.org/10.1002/ajmg.a.20296]
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</li>
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<li>
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<p class="mim-text-font">
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Bergman, F., Warmenius, S.
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<strong>Familial perireticular amyloidosis in a Swedish family.</strong>
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Am. J. Med. 45: 601-606, 1968.
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[PubMed: 5678100]
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[Full Text: https://doi.org/10.1016/0002-9343(68)90174-5]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Booth, D. R., Gillmore, J. D., Lachmann, H. J., Booth, S. E., Bybee, A., Soyturk, M., Akar, S., Pepys, M. B., Tunca, M., Hawkins, P. N.
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<strong>The genetic basis of autosomal dominant familial Mediterranean fever.</strong>
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Quart. J. Med. 93: 217-221, 2000.
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[PubMed: 10787449]
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[Full Text: https://doi.org/10.1093/qjmed/93.4.217]
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<p class="mim-text-font">
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Gertz, M. A., Petitt, R. M., Kyle, R. A.
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<strong>Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.</strong>
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Mayo Clin. Proc. 62: 1095-1100, 1987.
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[PubMed: 3682954]
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[Full Text: https://doi.org/10.1016/s0025-6196(12)62502-6]
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<li>
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<p class="mim-text-font">
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Hawle, H., Winckelmann, G., Kortsik, C. St. F.
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<strong>Familiaeres Mittelmeerfieber in einer deutschen familie.</strong>
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Dtsch. Med. Wschr. 114: 665-668, 1989.
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[PubMed: 2707135]
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[Full Text: https://doi.org/10.1055/s-2008-1066652]
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<li>
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<p class="mim-text-font">
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Karenko, L., Pettersson, T., Roberts, P.
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<strong>Autosomal dominant 'Mediterranean fever' in a Finnish family.</strong>
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J. Intern. Med. 232: 365-369, 1992. Note: Erratum: J. Intern. Med. 233: 101 only, 1993.
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[PubMed: 1402641]
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[Full Text: https://doi.org/10.1111/j.1365-2796.1992.tb00600.x]
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<li>
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<p class="mim-text-font">
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Reich, C. B., Franklin, E. C.
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<strong>Familial Mediterranean fever in an Italian family.</strong>
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Arch. Intern. Med. 125: 337-340, 1970.
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[PubMed: 5412026]
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<p class="mim-text-font">
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Shohat, M., Magal, N., Shohat, T., Chen, X., Dagan, T., Mimouni, A., Danon, Y., Lotan, R., Ogur, G., Sirin, A., Schlezinger, M., Halpern, G. J., Schwabe, A., Kastner, D., Rotter, J. I., Fischel-Ghodsian, N.
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<strong>Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between met694-to-val and amyloidosis.</strong>
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Europ. J. Hum. Genet. 7: 287-292, 1999.
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[PubMed: 10234504]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200303]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/15/2006<br>Victor A. McKusick - updated : 7/16/1999
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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 : 1/28/1988
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/08/2024<br>carol : 06/12/2020<br>ckniffin : 06/09/2020<br>carol : 04/28/2011<br>wwang : 3/29/2006<br>ckniffin : 3/15/2006<br>carol : 4/16/2004<br>mgross : 3/17/2004<br>carol : 7/23/1999<br>terry : 7/16/1999<br>alopez : 10/27/1997<br>mimadm : 9/24/1994<br>carol : 12/30/1992<br>carol : 12/22/1992<br>carol : 12/14/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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