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Entry
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- #600880 - BUDD-CHIARI SYNDROME; BDCHS
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- OMIM
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<span class="h4">#600880</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/600880"><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="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</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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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(BUDD-CHIARI SYNDROME) OR (JAK2 OR F5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=854&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/990" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/jak2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600880[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=131" 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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:11512" 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/600880" 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://omia.org/results?search_type=advanced&omia_id=001203,001264" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:11512" 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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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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> 109380002, 82385007<br />
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<strong>ICD10CM:</strong> I82.0<br />
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<strong>ICD9CM:</strong> 453.0<br />
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<strong>ORPHA:</strong> 131<br />
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<strong>DO:</strong> 11512<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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600880
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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BUDD-CHIARI SYNDROME; BDCHS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<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>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1404?start=-3&limit=10&highlight=1404">
|
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1q24.2
|
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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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{Budd-Chiari syndrome}
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600880"> 600880 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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F5
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612309"> 612309 </a>
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{Budd-Chiari syndrome, somatic}
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<a href="/entry/600880"> 600880 </a>
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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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- Membranous obstruction of inferior vena cava (MOVC) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109380002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109380002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546323</a>]</span><br /> - Collateral veins<br />
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- Hepatocellular carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109841003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109841003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/187769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">187769009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1186630006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1186630006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25370001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25370001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C22.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C22.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2239176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239176</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span><br />
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<p>A number sign (#) is used with this entry because susceptibility to Budd-Chiari syndrome (BDCHS) can result from heterozygous or homozygous mutation in the F5 gene (<a href="/entry/612309">612309</a>) on chromosome 1q24 or by somatic mutation in the JAK2 gene (<a href="/entry/147796">147796</a>) on chromosome 9p24.</p>
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<div class="mim-changed mim-change"><p>Budd-Chiari syndrome (BDCHS) is defined as thrombosis of one or more of the large hepatic veins, the inferior vena cava, or both. Patients present with a classic clinical triad of abdominal pain, hepatomegaly, and ascites, typically associated with nonspecific elevations of liver enzymes. The disorder may be acute, subacute, or chronic. Edema of the legs may be present (summary by <a href="#2" class="mim-tip-reference" title="Chung, R. T., Iafrate, A. J., Amrein, P. C., Sahani, D. V., Misdraji, J. <strong>Case 15-2006: a 46-year-old woman with sudden onset of abdominal distention.</strong> New Eng. J. Med. 354: 2166-2175, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16707754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16707754</a>] [<a href="https://doi.org/10.1056/NEJMcpc069006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16707754">Chung et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16707754" 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></div>
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<p>Budd-Chiari syndrome (BDCHS) is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain, and abdominal ascites (<a href="#11" class="mim-tip-reference" title="Zimmerman, M. A., Cameron, A. M., Ghobrial, R. M. <strong>Budd-Chiari syndrome.</strong> Clin. Liver Dis. 10: 259-273, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971261</a>] [<a href="https://doi.org/10.1016/j.cld.2006.05.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971261">Zimmerman et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971261" 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 class="mim-changed mim-change"><p>One of the causes of Budd-Chiari syndrome is a membranous obstruction of the inferior vena cava (MOVC). Primary thrombosis due to a thrombophilia such as that resulting from defects in the natural coagulation inhibitors such as protein C (<a href="/entry/612283">612283</a>), protein S (<a href="/entry/176880">176880</a>), and antithrombin III (<a href="/entry/107300">107300</a>) are also causes. <a href="#8" class="mim-tip-reference" title="Riemens, S. C., Haagsma, E. B., Kok, T., Gouw, A. S. H., van der Jagt, E. J. <strong>Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology.</strong> J. Hepatol. 22: 404-409, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665859</a>] [<a href="https://doi.org/10.1016/0168-8278(95)80102-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7665859">Riemens et al. (1995)</a> reported a family in which 3 of 11 sibs (2 sisters and 1 brother) showed symptoms of MOVC developing in early adult life. All had signs of more longstanding disease, as judged by the presence of collaterals, cirrhosis, and, in one case, hepatocellular carcinoma. The brother died with lung metastasis from the hepatocellular carcinoma, while the 2 sisters had surgical removal of the membrane and were well 20 and 21 years after surgery. On family screening, no further cases of membranous obstruction of the inferior vena cava were found. There was no evidence of an inherited defect in a coagulation inhibitor or plasminogen deficiency (<a href="/entry/173350">173350</a>); however, <a href="#8" class="mim-tip-reference" title="Riemens, S. C., Haagsma, E. B., Kok, T., Gouw, A. S. H., van der Jagt, E. J. <strong>Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology.</strong> J. Hepatol. 22: 404-409, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665859</a>] [<a href="https://doi.org/10.1016/0168-8278(95)80102-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7665859">Riemens et al. (1995)</a> could not totally exclude a thrombotic etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7665859" 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></div>
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<p>Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera (PV; <a href="/entry/263300">263300</a>). <a href="#1" class="mim-tip-reference" title="Cario, H., Pahl, H. L., Schwarz, K., Galm, C., Hoffmann, M., Burdelski, M., Kohne, E., Debatin, K.-M. <strong>Familial polycythemia vera with Budd-Chiari syndrome in childhood.</strong> Brit. J. Haemat. 123: 346-352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14531919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14531919</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2003.04591.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14531919">Cario et al. (2003)</a> described a third pediatric case of Budd-Chiari syndrome as the initial symptom of familial polycythemia vera in an 11-year-old girl; the patient's grandmother also had polycythemia vera. The patient's mother was unaffected. The patient underwent orthotopic liver transplantation and the polycythemia vera was treated with hydroxyurea. In agreement with the clinical diagnosis, the polycythemia rubra vera-1 gene (PRV1; <a href="/entry/162860">162860</a>) showed increased mRNA expression in peripheral granulocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14531919" 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="#6" class="mim-tip-reference" title="Menon, K. V. N., Shah, V., Kamath, P. S. <strong>The Budd-Chiari syndrome.</strong> New Eng. J. Med. 350: 578-585, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14762185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14762185</a>] [<a href="https://doi.org/10.1056/NEJMra020282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14762185">Menon et al. (2004)</a> reviewed all aspects of Budd-Chiari syndrome, including the inherited hypercoagulable states that had been found to be associated with the disorder. They noted that the relative risk of hepatic vein thrombosis among women who use oral contraceptives is 2.37, which is similar to their relative risk of stroke, myocardial infarction, and venous thromboembolism (<a href="#10" class="mim-tip-reference" title="Valla, D., Le, M. G., Poynard, T., Zucman, N., Rueff, B., Benhamou, J. P. <strong>Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives: a case-control study.</strong> Gastroenterology 90: 807-811, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3949113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3949113</a>] [<a href="https://doi.org/10.1016/0016-5085(86)90855-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3949113">Valla et al., 1986</a>). Many patients in whom Budd-Chiari syndrome develops in association with the use of oral contraceptives or pregnancy also have an underlying thrombophilia, either inherited or acquired. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14762185+3949113" 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="#5" class="mim-tip-reference" title="Mahmoud, A. E. A., Elias, E., Beauchamp, N., Wilde, J. T. <strong>Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.</strong> Gut 40: 798-800, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9245936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9245936</a>] [<a href="https://doi.org/10.1136/gut.40.6.798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9245936">Mahmoud et al. (1997)</a> reported the incidence of the factor V Leiden mutation (R506Q; <a href="/entry/612309#0001">612309.0001</a>) in Budd-Chiari syndrome and portal vein thrombosis. The R506Q mutation was seen in 7 (23%) of 30 patients with Budd-Chiari syndrome (6 heterozygotes and 1 homozygote), 3 of whom had coexistent myeloproliferative disease. Only 1 (3%) of 32 patients with portal vein thrombosis was found to have the R506Q mutation. The mutation was found in 3 (6%) of the 54 controls, who had liver disease but no history of thrombophilia. <a href="#5" class="mim-tip-reference" title="Mahmoud, A. E. A., Elias, E., Beauchamp, N., Wilde, J. T. <strong>Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.</strong> Gut 40: 798-800, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9245936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9245936</a>] [<a href="https://doi.org/10.1136/gut.40.6.798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9245936">Mahmoud et al. (1997)</a> concluded that the R506Q mutation seems to be an important factor in the pathogenesis of Budd-Chiari syndrome but not of portal vein thrombosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9245936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gurakan, F., Gurgey, A., Bakkaloglu, A., Kocak, N. <strong>Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome.</strong> J. Pediat. Gastroent. Nutr. 28: 516-517, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10328130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10328130</a>] [<a href="https://doi.org/10.1097/00005176-199905000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10328130">Gurakan et al. (1999)</a> described a child with Budd-Chiari syndrome who was homozygous for the factor V Leiden mutation. Budd-Chiari syndrome is rare in children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10328130" 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="Janssen, H. L. A., Meinardi, J. R., Vleggaar, F. P., van Uum, S. H. M., Haagsma, E. B., van der Meer, F. J. M., van Hattum, J., Chamuleau, R. A. F. M., Adang, R. P., Vandenbroucke, J. P., van Hoek, B., Rosendaal, F. R. <strong>Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.</strong> Blood 96: 2364-2368, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001884</a>]" pmid="11001884">Janssen et al. (2000)</a> compared 43 patients with Budd-Chiari syndrome and 92 patients with portal vein thrombosis with 474 population-based controls. The relative risk of Budd-Chiari syndrome was 11.3 for individuals with the factor V Leiden mutation, 2.1 for those with a prothrombin (<a href="/entry/176930">176930</a>) gene mutation, and 6.8 for those with protein C deficiency. In patients with portal vein thrombosis, the corresponding figures were 2.7, 1.4, and 4.6, respectively. The relative risk of Budd-Chiari syndrome or portal vein thrombosis was not increased in the presence of inherited protein S or antithrombin deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001884" 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="Patel, R. K. <strong>Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. (Abstract)</strong> Proceedings of the 47th Annual Meeting of the American Society of Hematology, Atlanta 2005. P. 7282."None>Patel (2005)</a> identified a V617F mutation in the JAK2 gene (<a href="/entry/147796#0001">147796.0001</a>) in a high proportion of patients with the Budd-Chiari syndrome, providing evidence that these patients have a latent myeloproliferative disorder. <a href="#2" class="mim-tip-reference" title="Chung, R. T., Iafrate, A. J., Amrein, P. C., Sahani, D. V., Misdraji, J. <strong>Case 15-2006: a 46-year-old woman with sudden onset of abdominal distention.</strong> New Eng. J. Med. 354: 2166-2175, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16707754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16707754</a>] [<a href="https://doi.org/10.1056/NEJMcpc069006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16707754">Chung et al. (2006)</a> described Budd-Chiari syndrome in a 46-year-old woman who was well until the onset of increasing abdominal distention over a period of several days. She was found to have a combination of the JAK2 V617F mutation and the factor V Leiden mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16707754" 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="Sozer, S., Fiel, M. I., Schiano, T., Xu, M., Mascarenhas, J., Hoffman, R. <strong>The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.</strong> Blood 113: 5246-5249, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19293426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19293426</a>] [<a href="https://doi.org/10.1182/blood-2008-11-191544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19293426">Sozer et al. (2009)</a> identified somatic homozygous JAK2 V617F mutations in liver venule endothelial and hematopoietic cells from 2 unrelated patients with polycythemia vera who developed Budd-Chiari syndrome. However, analysis of endothelial cells from a third PV patient with Budd-Chiari syndrome and in 2 patients with hepatoportal sclerosis without PV showed only wildtype JAK2. Endothelial and hematopoietic cells are believed to come from a common progenitor called the hemangioblast. <a href="#9" class="mim-tip-reference" title="Sozer, S., Fiel, M. I., Schiano, T., Xu, M., Mascarenhas, J., Hoffman, R. <strong>The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.</strong> Blood 113: 5246-5249, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19293426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19293426</a>] [<a href="https://doi.org/10.1182/blood-2008-11-191544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19293426">Sozer et al. (2009)</a> concluded that finding V617F-positive endothelial cells and hematopoietic cells from patients with PV who developed Budd-Chiari syndrome indicates that endothelial cells are involved by the PV malignant process, and suggested that the disease might originate from a common cell of origin in some patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19293426" 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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Cario, H., Pahl, H. L., Schwarz, K., Galm, C., Hoffmann, M., Burdelski, M., Kohne, E., Debatin, K.-M.
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<strong>Familial polycythemia vera with Budd-Chiari syndrome in childhood.</strong>
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Brit. J. Haemat. 123: 346-352, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14531919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14531919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14531919" 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/10.1046/j.1365-2141.2003.04591.x" target="_blank">Full Text</a>]
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Chung, R. T., Iafrate, A. J., Amrein, P. C., Sahani, D. V., Misdraji, J.
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<strong>Case 15-2006: a 46-year-old woman with sudden onset of abdominal distention.</strong>
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New Eng. J. Med. 354: 2166-2175, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16707754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16707754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16707754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMcpc069006" target="_blank">Full Text</a>]
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Gurakan, F., Gurgey, A., Bakkaloglu, A., Kocak, N.
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<strong>Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome.</strong>
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J. Pediat. Gastroent. Nutr. 28: 516-517, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10328130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10328130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10328130" 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/10.1097/00005176-199905000-00016" target="_blank">Full Text</a>]
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Janssen, H. L. A., Meinardi, J. R., Vleggaar, F. P., van Uum, S. H. M., Haagsma, E. B., van der Meer, F. J. M., van Hattum, J., Chamuleau, R. A. F. M., Adang, R. P., Vandenbroucke, J. P., van Hoek, B., Rosendaal, F. R.
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<strong>Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.</strong>
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Blood 96: 2364-2368, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mahmoud, A. E. A., Elias, E., Beauchamp, N., Wilde, J. T.
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<strong>Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.</strong>
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Gut 40: 798-800, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9245936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9245936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9245936" 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/gut.40.6.798" target="_blank">Full Text</a>]
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Menon, K. V. N., Shah, V., Kamath, P. S.
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<strong>The Budd-Chiari syndrome.</strong>
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New Eng. J. Med. 350: 578-585, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14762185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14762185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14762185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMra020282" target="_blank">Full Text</a>]
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Patel, R. K.
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<strong>Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. (Abstract)</strong>
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Proceedings of the 47th Annual Meeting of the American Society of Hematology, Atlanta 2005. P. 7282.
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Riemens, S. C., Haagsma, E. B., Kok, T., Gouw, A. S. H., van der Jagt, E. J.
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<strong>Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology.</strong>
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J. Hepatol. 22: 404-409, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7665859" 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/10.1016/0168-8278(95)80102-2" target="_blank">Full Text</a>]
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Sozer, S., Fiel, M. I., Schiano, T., Xu, M., Mascarenhas, J., Hoffman, R.
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<strong>The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.</strong>
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Blood 113: 5246-5249, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19293426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19293426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19293426" 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/10.1182/blood-2008-11-191544" target="_blank">Full Text</a>]
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Valla, D., Le, M. G., Poynard, T., Zucman, N., Rueff, B., Benhamou, J. P.
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<strong>Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives: a case-control study.</strong>
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Gastroenterology 90: 807-811, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3949113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3949113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3949113" 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/10.1016/0016-5085(86)90855-3" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Zimmerman2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zimmerman, M. A., Cameron, A. M., Ghobrial, R. M.
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<strong>Budd-Chiari syndrome.</strong>
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Clin. Liver Dis. 10: 259-273, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971261" 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.cld.2006.05.005" target="_blank">Full Text</a>]
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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 : 12/29/2009
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<span class="mim-text-font">
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Victor A. McKusick - updated : 2/24/2004<br>Victor A. McKusick - updated : 12/22/2003<br>Victor A. McKusick - updated : 1/9/2001<br>Paul Brennan - updated : 11/14/1997
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<span class="mim-text-font">
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Victor A. McKusick : 10/19/1995
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carol : 02/05/2025
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alopez : 02/04/2025<br>carol : 01/11/2022<br>carol : 06/17/2016<br>alopez : 6/9/2016<br>alopez : 6/9/2016<br>carol : 3/23/2012<br>terry : 7/25/2011<br>carol : 7/19/2011<br>wwang : 1/13/2010<br>ckniffin : 12/29/2009<br>carol : 10/8/2008<br>carol : 2/9/2007<br>carol : 2/9/2007<br>tkritzer : 2/27/2004<br>terry : 2/24/2004<br>tkritzer : 12/22/2003<br>alopez : 4/30/2001<br>mcapotos : 1/22/2001<br>mcapotos : 1/12/2001<br>terry : 1/9/2001<br>alopez : 12/5/1997<br>alopez : 12/5/1997<br>alopez : 12/5/1997<br>mark : 6/10/1997<br>mark : 12/13/1995<br>mimadm : 11/3/1995<br>mark : 10/19/1995
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<span class="mim-font">
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<strong>#</strong> 600880
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BUDD-CHIARI SYNDROME; BDCHS
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED
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<strong>SNOMEDCT:</strong> 109380002, 82385007;
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<strong>ICD10CM:</strong> I82.0;
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<strong>ICD9CM:</strong> 453.0;
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<strong>ORPHA:</strong> 131;
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<strong>DO:</strong> 11512;
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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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1q24.2
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<span class="mim-font">
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{Budd-Chiari syndrome}
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<span class="mim-font">
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600880
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Autosomal recessive
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<span class="mim-font">
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3
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F5
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612309
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9p24.1
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{Budd-Chiari syndrome, somatic}
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600880
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<span class="mim-font">
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3
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JAK2
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<span class="mim-font">
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147796
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because susceptibility to Budd-Chiari syndrome (BDCHS) can result from heterozygous or homozygous mutation in the F5 gene (612309) on chromosome 1q24 or by somatic mutation in the JAK2 gene (147796) on chromosome 9p24.</p>
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<strong>Description</strong>
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<p>Budd-Chiari syndrome (BDCHS) is defined as thrombosis of one or more of the large hepatic veins, the inferior vena cava, or both. Patients present with a classic clinical triad of abdominal pain, hepatomegaly, and ascites, typically associated with nonspecific elevations of liver enzymes. The disorder may be acute, subacute, or chronic. Edema of the legs may be present (summary by Chung et al., 2006). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Budd-Chiari syndrome (BDCHS) is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain, and abdominal ascites (Zimmerman et al., 2006). </p><p>One of the causes of Budd-Chiari syndrome is a membranous obstruction of the inferior vena cava (MOVC). Primary thrombosis due to a thrombophilia such as that resulting from defects in the natural coagulation inhibitors such as protein C (612283), protein S (176880), and antithrombin III (107300) are also causes. Riemens et al. (1995) reported a family in which 3 of 11 sibs (2 sisters and 1 brother) showed symptoms of MOVC developing in early adult life. All had signs of more longstanding disease, as judged by the presence of collaterals, cirrhosis, and, in one case, hepatocellular carcinoma. The brother died with lung metastasis from the hepatocellular carcinoma, while the 2 sisters had surgical removal of the membrane and were well 20 and 21 years after surgery. On family screening, no further cases of membranous obstruction of the inferior vena cava were found. There was no evidence of an inherited defect in a coagulation inhibitor or plasminogen deficiency (173350); however, Riemens et al. (1995) could not totally exclude a thrombotic etiology. </p><p>Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera (PV; 263300). Cario et al. (2003) described a third pediatric case of Budd-Chiari syndrome as the initial symptom of familial polycythemia vera in an 11-year-old girl; the patient's grandmother also had polycythemia vera. The patient's mother was unaffected. The patient underwent orthotopic liver transplantation and the polycythemia vera was treated with hydroxyurea. In agreement with the clinical diagnosis, the polycythemia rubra vera-1 gene (PRV1; 162860) showed increased mRNA expression in peripheral granulocytes. </p><p>Menon et al. (2004) reviewed all aspects of Budd-Chiari syndrome, including the inherited hypercoagulable states that had been found to be associated with the disorder. They noted that the relative risk of hepatic vein thrombosis among women who use oral contraceptives is 2.37, which is similar to their relative risk of stroke, myocardial infarction, and venous thromboembolism (Valla et al., 1986). Many patients in whom Budd-Chiari syndrome develops in association with the use of oral contraceptives or pregnancy also have an underlying thrombophilia, either inherited or acquired. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Mahmoud et al. (1997) reported the incidence of the factor V Leiden mutation (R506Q; 612309.0001) in Budd-Chiari syndrome and portal vein thrombosis. The R506Q mutation was seen in 7 (23%) of 30 patients with Budd-Chiari syndrome (6 heterozygotes and 1 homozygote), 3 of whom had coexistent myeloproliferative disease. Only 1 (3%) of 32 patients with portal vein thrombosis was found to have the R506Q mutation. The mutation was found in 3 (6%) of the 54 controls, who had liver disease but no history of thrombophilia. Mahmoud et al. (1997) concluded that the R506Q mutation seems to be an important factor in the pathogenesis of Budd-Chiari syndrome but not of portal vein thrombosis. </p><p>Gurakan et al. (1999) described a child with Budd-Chiari syndrome who was homozygous for the factor V Leiden mutation. Budd-Chiari syndrome is rare in children. </p><p>Janssen et al. (2000) compared 43 patients with Budd-Chiari syndrome and 92 patients with portal vein thrombosis with 474 population-based controls. The relative risk of Budd-Chiari syndrome was 11.3 for individuals with the factor V Leiden mutation, 2.1 for those with a prothrombin (176930) gene mutation, and 6.8 for those with protein C deficiency. In patients with portal vein thrombosis, the corresponding figures were 2.7, 1.4, and 4.6, respectively. The relative risk of Budd-Chiari syndrome or portal vein thrombosis was not increased in the presence of inherited protein S or antithrombin deficiency. </p><p>Patel (2005) identified a V617F mutation in the JAK2 gene (147796.0001) in a high proportion of patients with the Budd-Chiari syndrome, providing evidence that these patients have a latent myeloproliferative disorder. Chung et al. (2006) described Budd-Chiari syndrome in a 46-year-old woman who was well until the onset of increasing abdominal distention over a period of several days. She was found to have a combination of the JAK2 V617F mutation and the factor V Leiden mutation. </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>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>Sozer et al. (2009) identified somatic homozygous JAK2 V617F mutations in liver venule endothelial and hematopoietic cells from 2 unrelated patients with polycythemia vera who developed Budd-Chiari syndrome. However, analysis of endothelial cells from a third PV patient with Budd-Chiari syndrome and in 2 patients with hepatoportal sclerosis without PV showed only wildtype JAK2. Endothelial and hematopoietic cells are believed to come from a common progenitor called the hemangioblast. Sozer et al. (2009) concluded that finding V617F-positive endothelial cells and hematopoietic cells from patients with PV who developed Budd-Chiari syndrome indicates that endothelial cells are involved by the PV malignant process, and suggested that the disease might originate from a common cell of origin in some patients. </p>
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</span>
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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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<p class="mim-text-font">
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Cario, H., Pahl, H. L., Schwarz, K., Galm, C., Hoffmann, M., Burdelski, M., Kohne, E., Debatin, K.-M.
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<strong>Familial polycythemia vera with Budd-Chiari syndrome in childhood.</strong>
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Brit. J. Haemat. 123: 346-352, 2003.
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[PubMed: 14531919]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2003.04591.x]
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<p class="mim-text-font">
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Chung, R. T., Iafrate, A. J., Amrein, P. C., Sahani, D. V., Misdraji, J.
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<strong>Case 15-2006: a 46-year-old woman with sudden onset of abdominal distention.</strong>
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New Eng. J. Med. 354: 2166-2175, 2006.
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[PubMed: 16707754]
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[Full Text: https://doi.org/10.1056/NEJMcpc069006]
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<p class="mim-text-font">
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Gurakan, F., Gurgey, A., Bakkaloglu, A., Kocak, N.
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Janssen, H. L. A., Meinardi, J. R., Vleggaar, F. P., van Uum, S. H. M., Haagsma, E. B., van der Meer, F. J. M., van Hattum, J., Chamuleau, R. A. F. M., Adang, R. P., Vandenbroucke, J. P., van Hoek, B., Rosendaal, F. R.
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Cassandra L. Kniffin - updated : 12/29/2009<br>Victor A. McKusick - updated : 2/24/2004<br>Victor A. McKusick - updated : 12/22/2003<br>Victor A. McKusick - updated : 1/9/2001<br>Paul Brennan - updated : 11/14/1997
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Victor A. McKusick : 10/19/1995
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carol : 02/05/2025<br>alopez : 02/04/2025<br>carol : 01/11/2022<br>carol : 06/17/2016<br>alopez : 6/9/2016<br>alopez : 6/9/2016<br>carol : 3/23/2012<br>terry : 7/25/2011<br>carol : 7/19/2011<br>wwang : 1/13/2010<br>ckniffin : 12/29/2009<br>carol : 10/8/2008<br>carol : 2/9/2007<br>carol : 2/9/2007<br>tkritzer : 2/27/2004<br>terry : 2/24/2004<br>tkritzer : 12/22/2003<br>alopez : 4/30/2001<br>mcapotos : 1/22/2001<br>mcapotos : 1/12/2001<br>terry : 1/9/2001<br>alopez : 12/5/1997<br>alopez : 12/5/1997<br>alopez : 12/5/1997<br>mark : 6/10/1997<br>mark : 12/13/1995<br>mimadm : 11/3/1995<br>mark : 10/19/1995
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