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Entry
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- #300514 - FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
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- OMIM
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<p>
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<span class="h4">#300514</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300514"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS227650"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=FANCONI ANEMIA, COMPLEMENTATION GROUP B" 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=634&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/NBK1401/" 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/2782" 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=300514[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=84" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111098" 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/300514" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 84<br />
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<strong>DO:</strong> 0111098<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300514
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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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FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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FACB<br />
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FANCONI PANCYTOPENIA, TYPE 2; FA2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
|
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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/X/74?start=-3&limit=10&highlight=74">
|
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Xp22.2
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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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Fanconi anemia, complementation group B
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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/300514"> 300514 </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="X-linked recessive">XLR</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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FANCB
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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/300515"> 300515 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300514" 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 class="btn-group">
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|
<a href="/phenotypicSeries/PS227650" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300514" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300514" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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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>
|
|
</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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|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</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> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Head abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4021812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4021812</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000234</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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|
|
|
|
|
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|
|
</div>
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|
|
</div>
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|
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|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kidney abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44513007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44513007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000077</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Radial ray abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410049</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thumb abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299130003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299130003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575897</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001172</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pigmentation abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1260926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1260926</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001000</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypergonadotropic hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370999003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370999003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948896</a>, <a href="https://bioportal.bioontology.org/search?q=C1416843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1416843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000815</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</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> 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 Fanconi anemia, complementation group B gene (FANCB, <a href="/entry/300515#0001">300515.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Fanconi anemia
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- <a href="/phenotypicSeries/PS227650">PS227650</a>
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- 21 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
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</th>
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|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
<a href="/geneMap/1/154?start=-3&limit=10&highlight=154"> 1p36.22 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617243"> ?Fanconi anemia, complementation group V </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617243"> 617243 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604094"> MAD2L2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604094"> 604094 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/1/1580?start=-3&limit=10&highlight=1580"> 1q32.1 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616435"> Fanconi anemia, complementation group T </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616435"> 616435 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610538"> UBE2T </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610538"> 610538 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/274?start=-3&limit=10&highlight=274"> 2p16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614083"> Fanconi anemia, complementation group L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614083"> 614083 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608111"> PHF9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608111"> 608111 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/49?start=-3&limit=10&highlight=49"> 3p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227646"> Fanconi anemia, complementation group D2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227646"> 227646 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613984"> FANCD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613984"> 613984 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/427?start=-3&limit=10&highlight=427"> 6p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600901"> Fanconi anemia, complementation group E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600901"> 600901 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613976"> FANCE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613976"> 613976 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/844?start=-3&limit=10&highlight=844"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617247"> ?Fanconi anemia, complementation group U </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617247"> 617247 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600375"> XRCC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600375"> 600375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/161?start=-3&limit=10&highlight=161"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614082"> Fanconi anemia, complementation group G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614082"> 614082 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602956"> XRCC9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602956"> 602956 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/330?start=-3&limit=10&highlight=330"> 9q22.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227645"> Fanconi anemia, complementation group C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227645"> 227645 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613899"> FANCC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613899"> 613899 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/245?start=-3&limit=10&highlight=245"> 11p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603467"> Fanconi anemia, complementation group F </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603467"> 603467 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613897"> FANCF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613897"> 613897 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/83?start=-3&limit=10&highlight=83"> 13q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605724"> Fanconi anemia, complementation group D1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605724"> 605724 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/600185"> BRCA2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600185"> 600185 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/103?start=-3&limit=10&highlight=103"> 15q15.1 </a>
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|
</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617244"> Fanconi anemia, complementation group R </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>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617244"> 617244 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/179617"> RAD51 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/179617"> 179617 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
<a href="/geneMap/15/497?start=-3&limit=10&highlight=497"> 15q26.1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/609053"> Fanconi anemia, complementation group I </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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609053"> 609053 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611360"> FANCI </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611360"> 611360 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/147?start=-3&limit=10&highlight=147"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613951"> Fanconi anemia, complementation group P </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613951"> 613951 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613278"> SLX4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613278"> 613278 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/205?start=-3&limit=10&highlight=205"> 16p13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615272"> Fanconi anemia, complementation group Q </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615272"> 615272 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133520"> ERCC4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133520"> 133520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/278?start=-3&limit=10&highlight=278"> 16p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610832"> Fanconi anemia, complementation group N </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610832"> 610832 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610355"> PALB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610355"> 610355 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/638?start=-3&limit=10&highlight=638"> 16q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617784"> ?Fanconi anemia, complementation group W </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617784"> 617784 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614151"> RFWD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614151"> 614151 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/754?start=-3&limit=10&highlight=754"> 16q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227650"> Fanconi anemia, complementation group A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/227650"> 227650 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607139"> FANCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607139"> 607139 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/610?start=-3&limit=10&highlight=610"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617883"> Fanconi anemia, complementation group S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617883"> 617883 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113705"> BRCA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113705"> 113705 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/792?start=-3&limit=10&highlight=792"> 17q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613390"> Fanconi anemia, complementation group O </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613390"> 613390 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602774"> RAD51C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602774"> 602774 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/824?start=-3&limit=10&highlight=824"> 17q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609054"> Fanconi anemia, complementation group J </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609054"> 609054 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605882"> BRIP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605882"> 605882 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/74?start=-3&limit=10&highlight=74"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300514"> Fanconi anemia, complementation group B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300514"> 300514 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300515"> FANCB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300515"> 300515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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|
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|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</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>
|
|
<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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|
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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.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Fanconi anemia of complementation group B is caused by mutation in the FANCB gene (<a href="/entry/300515">300515</a>) on chromosome Xp22.</p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by <a href="#1" class="mim-tip-reference" title="Deakyne, J. S., Mazin, A. V. <strong>Fanconi anemia: at the crossroads of DNA repair.</strong> Biochemistry 76: 36-48, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21568838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21568838</a>] [<a href="https://doi.org/10.1134/s0006297911010068" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21568838">Deakyne and Mazin, 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21568838" 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>Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see <a href="/entry/314390">314390</a>), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (<a href="#9" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see <a href="/entry/227650">227650</a>.</p>
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<p>The existence of at least 2 separate loci, homozygosity at either of which can result in the Fanconi syndrome, was indicated by the complementation observed by <a href="#14" class="mim-tip-reference" title="Zakrzewski, S., Sperling, K. <strong>Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.</strong> Hum. Genet. 56: 81-84, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7203484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7203484</a>] [<a href="https://doi.org/10.1007/BF00281573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7203484">Zakrzewski and Sperling (1980)</a> in cell hybrid studies. They found no complementation between cells of classic Fanconi syndrome and those from patients lacking skeletal malformation. However, cells from a late-onset case complemented cells from an early-onset case. Sensitivity to the cytogenetic effects of mitomycin C was the phenotype of which complementation was studied. From comparable complementation studies, <a href="#4" class="mim-tip-reference" title="Duckworth-Rysiecki, G., Cornish, K., Clarke, C. A., Buchwald, M. <strong>Identification of two complementation groups in Fanconi anemia.</strong> Somat. Cell Molec. Genet. 11: 35-41, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3919452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3919452</a>] [<a href="https://doi.org/10.1007/BF01534732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3919452">Duckworth-Rysiecki et al. (1985)</a> likewise concluded that there are at least 2 complementation groups. <a href="#3" class="mim-tip-reference" title="Digweed, M., Zakrzewski-Ludcke, S., Sperling, K. <strong>Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response.</strong> Hum. Genet. 78: 51-54, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3338794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3338794</a>] [<a href="https://doi.org/10.1007/BF00291234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3338794">Digweed et al. (1988)</a> showed that the complementation grouping established by fibroblast fusion studies correlates with the rate of semiconservative DNA synthesis after 8-methoxypsoralen/UVA-irradiation treatment (<a href="#11" class="mim-tip-reference" title="Moustacchi, E., Papadopoulo, D., Diatloff-Zito, C., Buchwald, M. <strong>Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment.</strong> Hum. Genet. 75: 45-47, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3804331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3804331</a>] [<a href="https://doi.org/10.1007/BF00273837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3804331">Moustacchi et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3338794+3919452+3804331+7203484" 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>Because of the general nature of the disorder, FA appears to be a prime candidate for somatic cell gene therapy. <a href="#2" class="mim-tip-reference" title="Diatloff-Zito, C., Rosselli, F., Heddle, J., Moustacchi, E. <strong>Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA: phenotypic dissociation of chromosomal and cellular hypersensitivity to DNA cross-linking agents.</strong> Hum. Genet. 86: 151-161, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265827</a>] [<a href="https://doi.org/10.1007/BF00197697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2265827">Diatloff-Zito et al. (1990)</a> reported studies in which transfectants were obtained by mouse DNA-mediated gene transfer into FA primary fibroblasts. These studies again demonstrated differences between complementation groups A and B. Cells from group A, which are the most sensitive to the effects of crosslinking agents, were partially corrected for both the chromosomal aberrations and the cytotoxicity to 8-methoxypsoralen photoaddition. In contrast, after treatment with mitomycin C, only the chromosomal sensitivity was reestablished to a near-normal level. The opposite was true for group B cells, i.e., cell survival to MMC was partially corrected, whereas the frequency of MMC-induced chromosomal aberrations remained close to that of the untransfected cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2265827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D. <strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong> Am. J. Med. Genet. 47: 114-117, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>] [<a href="https://doi.org/10.1002/ajmg.1320470124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8368240">Wang et al. (1993)</a> reported a pedigree in which 4 affected males in 3 sibships connected through possible carrier females in 2 generations of a family presented with a VACTERL phenotype with hydrocephalus. This family had previously been reported by <a href="#8" class="mim-tip-reference" title="Hunter, A. G. W., MacMurray, B. <strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong> Proc. Greenwood Genet. Center 6: 146-147, 1987."None>Hunter and MacMurray (1987)</a>, <a href="#5" class="mim-tip-reference" title="Evans, J. A., Stranc, L. C., Kaplan, P., Hunter, A. G. W. <strong>VACTERL with hydrocephalus: further delineation of the syndrome(s).</strong> Am. J. Med. Genet. 34: 177-182, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2816994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2816994</a>] [<a href="https://doi.org/10.1002/ajmg.1320340209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2816994">Evans et al. (1989)</a>, and <a href="#12" class="mim-tip-reference" title="Sommer, A., Harmel, R., Zwick, D. <strong>Multiple congenital anomalies: Fanconi pancytopenia syndrome?</strong> Proc. Greenwood Genet. Center 8: 188-190, 1989."None>Sommer et al. (1989)</a>. <a href="#13" class="mim-tip-reference" title="Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D. <strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong> Am. J. Med. Genet. 47: 114-117, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>] [<a href="https://doi.org/10.1002/ajmg.1320470124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8368240">Wang et al. (1993)</a> found that affected members of this family had spontaneous chromosome breakage and rearrangements, suggesting that some cases of VACTERL-H hydrocephalus represent severe Fanconi anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2816994+8368240" 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="#9" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> reported 4 unrelated males with variable manifestations of VACTERL-H associated with mutations in the FANCB gene. Two of the affected pregnancies were terminated at 20 weeks' gestation, 1 proband died at age 15 weeks, and 1 died at age 2 years, 10 months. All presented in utero or at birth with multiple variable congenital anomalies including intrauterine growth retardation, dysmorphic ears, vertebral anomalies, esophageal, duodenal, or anal atresia, ventriculomegaly, renal agenesis, and radial agenesis. Two had cardiac defects, 2 had tracheoesophageal fistula, and 2 had small genitalia. Only the patient who lived beyond infancy developed anemia. Three patients studied had evidence of chromosome breakage. Two of the patients had male family members with a similar phenotype, both of whom died within the first month of life. One of the patients belonged to the family previously reported by <a href="#8" class="mim-tip-reference" title="Hunter, A. G. W., MacMurray, B. <strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong> Proc. Greenwood Genet. Center 6: 146-147, 1987."None>Hunter and MacMurray (1987)</a> and <a href="#13" class="mim-tip-reference" title="Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D. <strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong> Am. J. Med. Genet. 47: 114-117, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>] [<a href="https://doi.org/10.1002/ajmg.1320470124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8368240">Wang et al. (1993)</a> as having X-linked VACTERL-H. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21910217+8368240" 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="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> proposed criteria for the diagnosis of FANCB. Ventriculomegaly, absent thumbs and radii, or hypoplastic thumbs, and abnormal chromosome breakage are cardinal features. Major manifestations include renal agenesis or renal tract malformations, vertebral defects, gastrointestinal atresias, hypogonadism, and growth retardation. Minor features include tracheoesophageal fistula, cardiac malformations, lung lobation defects, structural brain malformations, low-set ears, and X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In individuals with Fanconi anemia of complementation group B, <a href="#10" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> found mutations in the FANCB gene, which they designated FAAP95 (<a href="/entry/300515#0001">300515.0001</a>-<a href="/entry/300515#0004">300515.0004</a>). They transfected lymphoblasts from individuals with FA with cDNA encoding FAAP95 and demonstrated that hypersensitivity to mitomycin C (MMC) and monoubiquitination of FANCD2 (<a href="/entry/227646">227646</a>) were both restored to normal. These data proved that FAAP95 is the gene associated with Fanconi anemia complementation group B. <a href="#10" class="mim-tip-reference" title="Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H. <strong>X-linked inheritance of Fanconi anemia complementation group B.</strong> Nature Genet. 36: 1219-1224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>] [<a href="https://doi.org/10.1038/ng1458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502827">Meetei et al. (2004)</a> suggested that evidence that the BRCA2 gene (<a href="/entry/600185">600185</a>) underlies complementation group B, as suggested by the work of <a href="#7" class="mim-tip-reference" title="Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D. <strong>Biallelic inactivation of BRCA2 in Fanconi anemia.</strong> Science 297: 606-609, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12065746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12065746</a>] [<a href="https://doi.org/10.1126/science.1073834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12065746">Howlett et al. (2002)</a>, was inconclusive. No complementation of a FANCB cell line by BRCA2 was reported, and no BRCA2 mutation was detected in another FANCB cell line; furthermore, cells with defective or depleted BRCA2 show normal monoubiquitination of FANCD2, unlike FANCB cells, which show defective FANCD2 monoubiquitination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12065746+15502827" 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="Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G. <strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong> J. Med. Genet. 43: 750-754, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.041673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16679491">Holden et al. (2006)</a> studied a family in which 2 male fetuses related to each other as nephew and maternal uncle presented with the VACTERL-H phenotype (<a href="/entry/314390">314390</a>). A fibroblast culture established from the proband fetus showed an increased number of chromosome breaks within the affected range observed in Fanconi anemia cells on breakage studies with diepoxybutane. X-inactivation studies in the mother and maternal grandmother of the proband fetus showed 100% skewing of X inactivation, a feature consistently found in females heterozygous for FANCB mutations. On screening of the 8 coding exons of FANCB, <a href="#6" class="mim-tip-reference" title="Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G. <strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong> J. Med. Genet. 43: 750-754, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.041673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16679491">Holden et al. (2006)</a> identified a splice site mutation (<a href="/entry/300515#0005">300515.0005</a>). Sequencing of both obligate carrier females, mother and maternal grandmother, confirmed that they were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16679491" 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="#9" class="mim-tip-reference" title="McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T. <strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong> Am. J. Med. Genet. 155A: 2370-2380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>] [<a href="https://doi.org/10.1002/ajmg.a.33913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21910217">McCauley et al. (2011)</a> found that 4 of 10 probands presenting with a VACTERL-H phenotype had mutations in the FANCB gene (see, e.g., <a href="/entry/300515#0006">300515.0006</a> and <a href="/entry/300515#0007">300515.0007</a>). All patients were male, and all unaffected mothers had skewed X inactivation in peripheral blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" 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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<strong>REFERENCES</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2265827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2265827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2265827" 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/10.1007/BF00197697" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291234" target="_blank">Full Text</a>]
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<a id="Duckworth-Rysiecki1985" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3919452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3919452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3919452" 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/10.1007/BF01534732" target="_blank">Full Text</a>]
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Evans, J. A., Stranc, L. C., Kaplan, P., Hunter, A. G. W.
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<strong>VACTERL with hydrocephalus: further delineation of the syndrome(s).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2816994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2816994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2816994" 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.1320340209" target="_blank">Full Text</a>]
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Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G.
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<strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong>
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J. Med. Genet. 43: 750-754, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16679491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16679491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16679491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16679491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.041673" target="_blank">Full Text</a>]
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Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12065746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12065746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12065746" 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/10.1126/science.1073834" target="_blank">Full Text</a>]
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<a id="Hunter1987" class="mim-anchor"></a>
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Hunter, A. G. W., MacMurray, B.
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<a id="McCauley2011" class="mim-anchor"></a>
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McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T.
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<strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong>
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Am. J. Med. Genet. 155A: 2370-2380, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21910217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21910217</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21910217" 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.33913" target="_blank">Full Text</a>]
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Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502827" 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/ng1458" target="_blank">Full Text</a>]
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<a id="Moustacchi1987" class="mim-anchor"></a>
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Moustacchi, E., Papadopoulo, D., Diatloff-Zito, C., Buchwald, M.
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<strong>Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment.</strong>
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Hum. Genet. 75: 45-47, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3804331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3804331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3804331" 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/10.1007/BF00273837" target="_blank">Full Text</a>]
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<a id="Sommer1989" class="mim-anchor"></a>
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Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D.
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<strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8368240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8368240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8368240" 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.1320470124" target="_blank">Full Text</a>]
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<a id="Zakrzewski1980" class="mim-anchor"></a>
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<div class="">
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Zakrzewski, S., Sperling, K.
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<strong>Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.</strong>
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Hum. Genet. 56: 81-84, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7203484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7203484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7203484" 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/10.1007/BF00281573" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/23/2012
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Victor A. McKusick : 11/29/2004
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alopez : 03/09/2021
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alopez : 09/23/2016<br>carol : 09/07/2012<br>ckniffin : 8/23/2012<br>carol : 7/8/2011<br>carol : 7/8/2009<br>wwang : 11/16/2005<br>alopez : 11/29/2004<br>alopez : 11/29/2004
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<strong>#</strong> 300514
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FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
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<em>Alternative titles; symbols</em>
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FACB<br />
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FANCONI PANCYTOPENIA, TYPE 2; FA2
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<strong>ORPHA:</strong> 84;
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<strong>DO:</strong> 0111098;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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Xp22.2
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<span class="mim-font">
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Fanconi anemia, complementation group B
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<span class="mim-font">
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300514
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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FANCB
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<span class="mim-font">
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300515
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Fanconi anemia of complementation group B is caused by mutation in the FANCB gene (300515) on chromosome Xp22.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). </p><p>Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see 314390), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011). </p><p>For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.</p>
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<strong>Clinical Features</strong>
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<p>The existence of at least 2 separate loci, homozygosity at either of which can result in the Fanconi syndrome, was indicated by the complementation observed by Zakrzewski and Sperling (1980) in cell hybrid studies. They found no complementation between cells of classic Fanconi syndrome and those from patients lacking skeletal malformation. However, cells from a late-onset case complemented cells from an early-onset case. Sensitivity to the cytogenetic effects of mitomycin C was the phenotype of which complementation was studied. From comparable complementation studies, Duckworth-Rysiecki et al. (1985) likewise concluded that there are at least 2 complementation groups. Digweed et al. (1988) showed that the complementation grouping established by fibroblast fusion studies correlates with the rate of semiconservative DNA synthesis after 8-methoxypsoralen/UVA-irradiation treatment (Moustacchi et al., 1987). </p><p>Because of the general nature of the disorder, FA appears to be a prime candidate for somatic cell gene therapy. Diatloff-Zito et al. (1990) reported studies in which transfectants were obtained by mouse DNA-mediated gene transfer into FA primary fibroblasts. These studies again demonstrated differences between complementation groups A and B. Cells from group A, which are the most sensitive to the effects of crosslinking agents, were partially corrected for both the chromosomal aberrations and the cytotoxicity to 8-methoxypsoralen photoaddition. In contrast, after treatment with mitomycin C, only the chromosomal sensitivity was reestablished to a near-normal level. The opposite was true for group B cells, i.e., cell survival to MMC was partially corrected, whereas the frequency of MMC-induced chromosomal aberrations remained close to that of the untransfected cells. </p><p>Wang et al. (1993) reported a pedigree in which 4 affected males in 3 sibships connected through possible carrier females in 2 generations of a family presented with a VACTERL phenotype with hydrocephalus. This family had previously been reported by Hunter and MacMurray (1987), Evans et al. (1989), and Sommer et al. (1989). Wang et al. (1993) found that affected members of this family had spontaneous chromosome breakage and rearrangements, suggesting that some cases of VACTERL-H hydrocephalus represent severe Fanconi anemia. </p><p>McCauley et al. (2011) reported 4 unrelated males with variable manifestations of VACTERL-H associated with mutations in the FANCB gene. Two of the affected pregnancies were terminated at 20 weeks' gestation, 1 proband died at age 15 weeks, and 1 died at age 2 years, 10 months. All presented in utero or at birth with multiple variable congenital anomalies including intrauterine growth retardation, dysmorphic ears, vertebral anomalies, esophageal, duodenal, or anal atresia, ventriculomegaly, renal agenesis, and radial agenesis. Two had cardiac defects, 2 had tracheoesophageal fistula, and 2 had small genitalia. Only the patient who lived beyond infancy developed anemia. Three patients studied had evidence of chromosome breakage. Two of the patients had male family members with a similar phenotype, both of whom died within the first month of life. One of the patients belonged to the family previously reported by Hunter and MacMurray (1987) and Wang et al. (1993) as having X-linked VACTERL-H. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</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>McCauley et al. (2011) proposed criteria for the diagnosis of FANCB. Ventriculomegaly, absent thumbs and radii, or hypoplastic thumbs, and abnormal chromosome breakage are cardinal features. Major manifestations include renal agenesis or renal tract malformations, vertebral defects, gastrointestinal atresias, hypogonadism, and growth retardation. Minor features include tracheoesophageal fistula, cardiac malformations, lung lobation defects, structural brain malformations, low-set ears, and X-linked recessive inheritance. </p>
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</span>
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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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<span class="mim-text-font">
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<p>In individuals with Fanconi anemia of complementation group B, Meetei et al. (2004) found mutations in the FANCB gene, which they designated FAAP95 (300515.0001-300515.0004). They transfected lymphoblasts from individuals with FA with cDNA encoding FAAP95 and demonstrated that hypersensitivity to mitomycin C (MMC) and monoubiquitination of FANCD2 (227646) were both restored to normal. These data proved that FAAP95 is the gene associated with Fanconi anemia complementation group B. Meetei et al. (2004) suggested that evidence that the BRCA2 gene (600185) underlies complementation group B, as suggested by the work of Howlett et al. (2002), was inconclusive. No complementation of a FANCB cell line by BRCA2 was reported, and no BRCA2 mutation was detected in another FANCB cell line; furthermore, cells with defective or depleted BRCA2 show normal monoubiquitination of FANCD2, unlike FANCB cells, which show defective FANCD2 monoubiquitination. </p><p>Holden et al. (2006) studied a family in which 2 male fetuses related to each other as nephew and maternal uncle presented with the VACTERL-H phenotype (314390). A fibroblast culture established from the proband fetus showed an increased number of chromosome breaks within the affected range observed in Fanconi anemia cells on breakage studies with diepoxybutane. X-inactivation studies in the mother and maternal grandmother of the proband fetus showed 100% skewing of X inactivation, a feature consistently found in females heterozygous for FANCB mutations. On screening of the 8 coding exons of FANCB, Holden et al. (2006) identified a splice site mutation (300515.0005). Sequencing of both obligate carrier females, mother and maternal grandmother, confirmed that they were heterozygous for the mutation. </p><p>McCauley et al. (2011) found that 4 of 10 probands presenting with a VACTERL-H phenotype had mutations in the FANCB gene (see, e.g., 300515.0006 and 300515.0007). All patients were male, and all unaffected mothers had skewed X inactivation in peripheral blood. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Deakyne, J. S., Mazin, A. V.
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<strong>Fanconi anemia: at the crossroads of DNA repair.</strong>
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Biochemistry 76: 36-48, 2011.
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[PubMed: 21568838]
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[Full Text: https://doi.org/10.1134/s0006297911010068]
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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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Diatloff-Zito, C., Rosselli, F., Heddle, J., Moustacchi, E.
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<strong>Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA: phenotypic dissociation of chromosomal and cellular hypersensitivity to DNA cross-linking agents.</strong>
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Hum. Genet. 86: 151-161, 1990.
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[PubMed: 2265827]
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[Full Text: https://doi.org/10.1007/BF00197697]
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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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Digweed, M., Zakrzewski-Ludcke, S., Sperling, K.
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<strong>Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response.</strong>
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Hum. Genet. 78: 51-54, 1988.
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[PubMed: 3338794]
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[Full Text: https://doi.org/10.1007/BF00291234]
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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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Duckworth-Rysiecki, G., Cornish, K., Clarke, C. A., Buchwald, M.
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<strong>Identification of two complementation groups in Fanconi anemia.</strong>
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Somat. Cell Molec. Genet. 11: 35-41, 1985.
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[PubMed: 3919452]
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[Full Text: https://doi.org/10.1007/BF01534732]
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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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Evans, J. A., Stranc, L. C., Kaplan, P., Hunter, A. G. W.
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<strong>VACTERL with hydrocephalus: further delineation of the syndrome(s).</strong>
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Am. J. Med. Genet. 34: 177-182, 1989.
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[PubMed: 2816994]
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[Full Text: https://doi.org/10.1002/ajmg.1320340209]
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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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Holden, S. T., Cox, J. J., Kesterton, I., Thomas, N. S., Carr, C., Woods, C. G.
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<strong>Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.</strong>
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J. Med. Genet. 43: 750-754, 2006.
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[PubMed: 16679491]
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[Full Text: https://doi.org/10.1136/jmg.2006.041673]
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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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Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., Ikeda, H., Fox, E. A., D'Andrea, A. D.
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<strong>Biallelic inactivation of BRCA2 in Fanconi anemia.</strong>
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Science 297: 606-609, 2002.
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[PubMed: 12065746]
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[Full Text: https://doi.org/10.1126/science.1073834]
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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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Hunter, A. G. W., MacMurray, B.
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<strong>Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle.</strong>
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Proc. Greenwood Genet. Center 6: 146-147, 1987.
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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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McCauley, J., Masand, N., McGowan, R., Rajagopalan, S., Hunter, A., Michaud, J. L., Gibson, K., Robertson, J., Vaz, F., Abbs, S., Holden, S. T.
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<strong>X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.</strong>
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Am. J. Med. Genet. 155A: 2370-2380, 2011.
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[PubMed: 21910217]
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[Full Text: https://doi.org/10.1002/ajmg.a.33913]
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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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Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M., Ling, C., Rooimans, M. A., Bier, P., Hoatlin, M., Pals, G., de Winter, J. P., Wang, W., Joenje, H.
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<strong>X-linked inheritance of Fanconi anemia complementation group B.</strong>
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Nature Genet. 36: 1219-1224, 2004.
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[PubMed: 15502827]
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[Full Text: https://doi.org/10.1038/ng1458]
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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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Moustacchi, E., Papadopoulo, D., Diatloff-Zito, C., Buchwald, M.
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<strong>Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment.</strong>
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Hum. Genet. 75: 45-47, 1987.
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[PubMed: 3804331]
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[Full Text: https://doi.org/10.1007/BF00273837]
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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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Sommer, A., Harmel, R., Zwick, D.
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<strong>Multiple congenital anomalies: Fanconi pancytopenia syndrome?</strong>
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Proc. Greenwood Genet. Center 8: 188-190, 1989.
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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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Wang, H., Hunter, A. G. W., Clifford, B., McLaughlin, M., Thompson, D.
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<strong>VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.</strong>
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Am. J. Med. Genet. 47: 114-117, 1993.
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[PubMed: 8368240]
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[Full Text: https://doi.org/10.1002/ajmg.1320470124]
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Zakrzewski, S., Sperling, K.
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<strong>Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.</strong>
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Hum. Genet. 56: 81-84, 1980.
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[PubMed: 7203484]
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[Full Text: https://doi.org/10.1007/BF00281573]
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