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<title>
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Entry
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- #277180 - VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
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- OMIM
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<span class="h4">#277180</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/277180"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS277180"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#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><a href="https://clinicaltrials.gov/search?cond=(VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF) OR (CFTR)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1000&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1790" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=277180[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=48" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:0111864" 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/277180" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111864" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:277180" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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|
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<strong>SNOMEDCT:</strong> 275416002<br />
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<strong>ORPHA:</strong> 48<br />
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<strong>DO:</strong> 0111864<br />
|
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
|
277180
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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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VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
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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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CAVD
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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="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF, INCLUDED; CUAVD, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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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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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/7/609?start=-3&limit=10&highlight=609">
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7q31.2
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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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Congenital bilateral absence of vas deferens
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|
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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/277180"> 277180 </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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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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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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CFTR
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602421"> 602421 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/277180" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS277180" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/277180" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/277180" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
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</span>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vas deferens aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848588</a>]</span><br /> -
|
|
Azoospermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425558002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425558002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48188009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48188009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.01</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/606.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">606.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
|
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|
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</div>
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, <a href="/entry/602421#0005">602421.0005</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Vas deferens, congenital bilateral aplasia of
|
|
- <a href="/phenotypicSeries/PS277180">PS277180</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/609?start=-3&limit=10&highlight=609"> 7q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/277180"> Congenital bilateral absence of vas deferens </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/277180"> 277180 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602421"> CFTR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602421"> 602421 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/103?start=-3&limit=10&highlight=103"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300985"> Congenital bilateral absence of vas deferens, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</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/300985"> 300985 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300572"> ADGRG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300572"> 300572 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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|
|
<div class="text-right small">
|
|
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<p>A number sign (#) is used with this entry because at least one form of congenital bilateral aplasia of the vas deferens (CBAVD) is caused by homozygous or compound heterozygous mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR; <a href="/entry/602421">602421</a>) on chromosome 7q31. Mutations in the same gene cause cystic fibrosis (<a href="/entry/219700">219700</a>).</p>
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<p>Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by <a href="#16" class="mim-tip-reference" title="Patat, O., Pagin, A., Siegfried, A., Mitchell, V., Chassaing, N., Faguer, S., Monteil, L., Gaston, V., Bujan, L., Courtade-Saidi, M., Marcelli, F., Lalau, G., Rigot, J.-M., Mieusset, R., Bieth, E. <strong>Truncating mutations in the adhesion G protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens.</strong> Am. J. Hum. Genet. 99: 437-442, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27476656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27476656</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27476656[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.06.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27476656">Patat et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27476656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens</em></strong></p><p>
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Also see CBAVDX (<a href="/entry/300985">300985</a>), caused by mutation in the ADGRG2 gene (<a href="/entry/300572">300572</a>).</p>
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<p>Congenital bilateral aplasia of the vas deferens (CBAVD), which leads to male infertility, may occur in isolation or as a manifestation of cystic fibrosis. <a href="#11" class="mim-tip-reference" title="Kaplan, E., Shwachman, H., Perlmutter, A. D., Rule, A., Khaw, K.-T., Holsclaw, D. S. <strong>Reproductive failure in males with cystic fibrosis.</strong> New Eng. J. Med. 279: 65-69, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5657013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5657013</a>] [<a href="https://doi.org/10.1056/NEJM196807112790203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5657013">Kaplan et al. (1968)</a> found that males with cystic fibrosis are infertile because of failure of normal development of the vas deferens. <a href="#15" class="mim-tip-reference" title="Oppenheimer, E. H., Esterly, J. R. <strong>Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system.</strong> J. Pediat. 75: 806-811, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5357932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5357932</a>] [<a href="https://doi.org/10.1016/s0022-3476(69)80303-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5357932">Oppenheimer and Esterly (1969)</a> concluded that the changes in the transport ducts of the male genital system are responsible for infertility and are not a developmental anomaly but a degenerative change due to obstruction similar to that which occurs in the pancreas and salivary glands in cystic fibrosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5657013+5357932" 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="#2" class="mim-tip-reference" title="Augarten, A., Yahav, Y., Kerem, B. S., Halle, D., Laufer, J., Szeinberg, A., Dor, J., Mashiach, S., Gazit, E., Madgar, I. <strong>Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.</strong> Lancet 344: 1473-1474, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7968122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7968122</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)90292-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7968122">Augarten et al. (1994)</a> suggested that CBAVD patients with renal malformations are likely not to have cystic fibrosis. They investigated 47 CBAVD patients by ultrasonography and found that 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least 1 cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7968122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Dumur, V., Gervais, R., Rigot, J.-M., Delomel-Vinner, E., Decaestecker, B., Lafitte, J.-J., Roussel, P. <strong>Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.</strong> Hum. Genet. 97: 7-10, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557264</a>] [<a href="https://doi.org/10.1007/BF00218824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557264">Dumur et al. (1996)</a> concluded with others that, unlike forms of CBAVD accompanied by renal maldevelopment, most cases of CBAVD without renal agenesis are related to CF. They found that the sweat test is useful for demonstrating the connection, especially when genetic analysis has not characterized mutations on both alleles of the CF gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557264" 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="#19" class="mim-tip-reference" title="Schellen, T. M. C. M., van Straaten, A. <strong>Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.</strong> Fertil. Steril. 34: 401-404, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7418895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7418895</a>] [<a href="https://doi.org/10.1016/s0015-0282(16)45030-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7418895">Schellen and van Straaten (1980)</a> described 4 brothers, aged 31 to 42 years, with aplasia of the vasa deferentia. No parental consanguinity could be demonstrated by a genealogic tracing 'as far back as 1750.' No associated abnormalities were found. There was no evidence of cystic fibrosis in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7418895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of families of males with azoospermia and extreme oligozoospermia, <a href="#3" class="mim-tip-reference" title="Budde, W. J. A. M., Verjaal, M., Hamerlynck, J. V. T. H., Bobrow, M. <strong>Familial occurrence of azoospermia and extreme oligozoospermia.</strong> Clin. Genet. 26: 555-562, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6499267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6499267</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01103.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6499267">Budde et al. (1984)</a> found 2 brothers with congenital aplasia of the vasa deferentia. <a href="#6" class="mim-tip-reference" title="Czeizel, A. <strong>Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs.</strong> Hum. Genet. 70: 288 only, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4018795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4018795</a>] [<a href="https://doi.org/10.1007/BF00273461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4018795">Czeizel (1985)</a> reported 2 unrelated male sib-pairs with bilateral congenital aplasia of the vasa deferentia. <a href="#12" class="mim-tip-reference" title="Kleczkowska, A., Fryns, J. P., Steeno, O., van den Berghe, H. <strong>On the familial occurrence of congenital bilateral absence of vas deferens.</strong> Clin. Genet. 35: 268-271, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2653673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2653673</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02941.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2653673">Kleczkowska et al. (1989)</a> and <a href="#8" class="mim-tip-reference" title="Gilgenkrantz, S., Guillemin, P., Kimmel, B. <strong>On the familial occurrence of congenital bilateral absence of vas deferens. (Letter)</strong> Clin. Genet. 37: 159 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2311268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2311268</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03495.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2311268">Gilgenkrantz et al. (1990)</a> reported affected families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6499267+2653673+4018795+2311268" 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="#20" class="mim-tip-reference" title="Silber, S. J., Ord, T., Balmaceda, J., Patrizio, P., Asch, R. H. <strong>Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm.</strong> New Eng. J. Med. 323: 1788-1792, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247117</a>] [<a href="https://doi.org/10.1056/NEJM199012273232602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247117">Silber et al. (1990)</a> used sperm aspirated from the epididymis of patients with congenital absence of the vas deferens to fertilize human oocytes in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247117" 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="#18" class="mim-tip-reference" title="Rigot, J.-M., Lafitte, J.-J., Dumur, V., Gervais, R., Manouvrier, S., Biserte, J., Mazeman, E., Roussel, P. <strong>Cystic fibrosis and congenital absence of the vas deferens. (Letter)</strong> New Eng. J. Med. 325: 64-65, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2046716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2046716</a>] [<a href="https://doi.org/10.1056/NEJM199107043250116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2046716">Rigot et al. (1991)</a> pointed to the risk attendant on the possibility that these males are carriers of a mild form of cystic fibrosis. They had examined 19 azoospermic men with aplasia of the epididymis and vas deferens and found that 8 were heterozygous for the delF508 deletion (<a href="/entry/602421#0001">602421.0001</a>), the most common mutation causing cystic fibrosis. All but 1 had chronic sinusitis and 2 had sweat chloride levels close to 100 mmol per liter. <a href="#1" class="mim-tip-reference" title="Anguiano, A., Oates, R. D., Amos, J. A., Dean, M., Gerrard, B., Stewart, C., Maher, T. A., White, M. B., Milunsky, A. <strong>Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis.</strong> JAMA 267: 1794-1797, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1545465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1545465</a>]" pmid="1545465">Anguiano et al. (1992)</a> reported similar findings. They studied 25 unselected, unrelated azoospermic men with CBAVD, most of them of northern European ancestry, who had presented to a male infertility clinic of a teaching hospital. In 16 (64%), at least 1 detectable CF mutation was found. Three of these 16 men were shown to be compound heterozygotes, one of whom had a previously undescribed mutation. This, they suggested, represents a primarily genital phenotype of CF. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2046716+1545465" 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="Martin, R. A., Lyons Jones, K., Downey, E. C. <strong>Congenital absence of the vas deferens: recurrence in a family.</strong> Am. J. Med. Genet. 42: 714-715, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632444</a>] [<a href="https://doi.org/10.1002/ajmg.1320420517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632444">Martin et al. (1992)</a> reported 2 brothers with congenital absence of the vas deferens discovered in childhood during inguinal hernia repair. The vas was absent unilaterally in one and bilaterally in the other. <a href="#13" class="mim-tip-reference" title="Martin, R. A., Lyons Jones, K., Downey, E. C. <strong>Congenital absence of the vas deferens: recurrence in a family.</strong> Am. J. Med. Genet. 42: 714-715, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632444</a>] [<a href="https://doi.org/10.1002/ajmg.1320420517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632444">Martin et al. (1992)</a> suggested that X-linked recessive or autosomal dominant male-limited inheritance is more likely. All fathers of affected males should be examined for the presence of unilateral CBAVD. Theoretically, females carrying an autosomal dominant CBAVD gene should lack the normal remnant of wolffian duct regression (Gartner duct), while these remnants should be present in females carrying an X-linked recessive gene. The Gartner duct is clinically undetectable, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632444" 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>See <a href="/entry/602421">602421</a> (e.g., <a href="/entry/602421#0060">602421.0060</a>) for mutations of the CFTR gene responsible for isolated bilateral absence of the vas deferens.</p><p><a href="#9" class="mim-tip-reference" title="Goshen, R., Kerem, E., Shoshani, T., Kerem, B.-S., Feigin, E., Zamir, O., Yahav, Y. <strong>Cystic fibrosis manifested as undescended testis and absence of vas deferens.</strong> Pediatrics 90: 982-983, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359500</a>]" pmid="1359500">Goshen et al. (1992)</a> described the case of a 2.5-year-old boy who was found to have fibrous replacement of the vas deferens when surgery was done for undescended testis and repair of an indirect inguinal hernia. One year later the patient developed diarrhea with steatorrhea, and sweat tests revealed elevated chloride. DNA studies demonstrated compound heterozygosity for the delF508 mutation and the trp1282-to-ter mutation (<a href="/entry/602421#0022">602421.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359500" 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>To test the hypothesis of commonality of CBAVD and CF, <a href="#17" class="mim-tip-reference" title="Rave-Harel, N., Madgar, I., Goshen, R., Nissim-Rafinia, M., Ziadni, A., Rahat, A., Chiba, O., Kalman, Y. M., Brautbar, C., Levinson, D., Augarten, A., Kerem, E., Kerem, B. <strong>CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.</strong> Am. J. Hum. Genet. 56: 1359-1366, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539210</a>]" pmid="7539210">Rave-Harel et al. (1995)</a> reasoned that 2 brothers with CBAVD could be expected to carry the same 2 CFTR alleles, while their fertile brothers would be expected to carry at least one different allele. Eleven families were studied, of which 2 families, with unidentified CFTR mutations, did not support this hypothesis. In these families, 2 brothers with CBAVD inherited different CFTR alleles. Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD. The results suggested that although in some families CBAVD is associated with 2 CFTR mutations, in other families it is caused by other mechanisms, such as mutations at other loci or homozygosity or heterozygosity for partially penetrant CFTR mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539210" 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="#14" class="mim-tip-reference" title="Mercier, B., Verlingue, C., Lissens, W., Silber, S. J., Novelli, G., Bonduelle, M., Audrezet, M. P., Ferec, C. <strong>Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.</strong> Am. J. Hum. Genet. 56: 272-277, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529962</a>]" pmid="7529962">Mercier et al. (1995)</a> analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with congenital bilateral aplasia of the vas deferens who were otherwise healthy. They identified 4 novel missense mutations: A800G, G149R, R258G, and E193K. They showed that 42% of these subjects were carriers of 1 CFTR allele and that 24% were compound heterozygotes for CFTR alleles. Thus, they were unable to identify the presence of 2 CFTR mutations in 76% of these patients. Furthermore, they described the segregation of CFTR haplotypes in the family of 1 CBAVD male; in this family, 2 male sibs with identical CFTR loci displayed different phenotypes, one of them being fertile and the other sterile. This suggested that one or more additional genes are involved in the etiology of CBAVD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7529962" 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="#5" class="mim-tip-reference" title="Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.-C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C., Estivill, X. <strong>Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.</strong> New Eng. J. Med. 332: 1475-1480, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739684</a>] [<a href="https://doi.org/10.1056/NEJM199506013322204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7739684">Chillon et al. (1995)</a> characterized the mutations in the CFTR gene in 102 patients with CBAVD. They also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. (Studies of CFTR mRNA in tissues from normal persons have identified various mRNA molecules that lack exon 4, 9, or 12. Whether or not CFTR mRNA contains exon 9 depends on the variable length of a stretch of thymine residues in intron 8 of CFTR. This sequence, known as a polyT sequence, contains 5, 7, or 9 thymines (the 5T, 7T, and 9T alleles, respectively). Since the 5T allele causes reduced levels of normal CFTR mRNA, this variant would appear likely to be involved in the pathogenesis of CBAVD.) In 19 of the 102 patients, mutations in both copies of the CFTR gene were found, and none of these had the 5T allele. A mutation was found in 1 copy of CFTR in 54 patients, and 34 of them (63%) had the 5T allele in the other CFTR gene. No CFTR mutations were found in 29 patients, but 7 of them (24%) had the 5T allele. The frequency of this allele in the general population is about 5%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7739684" 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="#5" class="mim-tip-reference" title="Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.-C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C., Estivill, X. <strong>Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.</strong> New Eng. J. Med. 332: 1475-1480, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739684</a>] [<a href="https://doi.org/10.1056/NEJM199506013322204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7739684">Chillon et al. (1995)</a> concluded that the combination of the 5T allele in 1 copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD. The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7739684" 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="#10" class="mim-tip-reference" title="Grangeia, A., Sa, R., Carvalho, F., Martin, J., Girodon, E., Silva, J., Ferraz, L., Barros, A., Sousa, M. <strong>Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.</strong> Genet. Med. 9: 163-172, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17413420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17413420</a>] [<a href="https://doi.org/10.1097/gim.0b013e3180318aaf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17413420">Grangeia et al. (2007)</a> screened DNA samples from 45 patients with congenital absence of the vas deferens by different molecular approaches, including screening for the 31 most frequent CF mutations. This approach identified 8 common mutations were identified in 40 patients. Denaturing gradient gel electrophoresis, denaturing high performance liquid chromatography, and DNA sequencing identified 17 additional mutations, 3 of which were novel. Semiquantitative fluorescent multiplex PCR detected a 21-kb deletion (<a href="/entry/602421#0123">602421.0123</a>) in 1 individual and confirmed the true homozygosity of 2 individuals. Overall, 42 patients (93.3%) had 2 mutations and 3 patients (6.7%) had 1 mutation detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17413420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Sun, W., Anderson, B., Redman, J., Milunsky, A., Buller, A., McGinniss, M. J., Quan, F., Anguiano, A., Huang, S., Hantash, F., Strom, C. <strong>CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.</strong> Genet. Med. 8: 339-345, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16778595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16778595</a>] [<a href="https://doi.org/10.1097/01.gim.0000223549.57443.16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16778595">Sun et al. (2006)</a> analyzed the polymorphic TG dinucleotide repeat adjacent to the 5T variant in intron 8 and the codon 470 in exon 10 to determine the haplotype of the 5T variant in trans. The authors evaluated 12 males affected with congenital bilateral absence of vas deferens and positive for the 5T variant and found that 10 of 12 had the 12TG-5T-470V haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16778595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cai, H., Qing, X., Niringiyumukiza, J. D., Zhan, X., Mo, D., Zhou, Y., Shang, X. <strong>CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.</strong> Genet. Med. 21: 826-836, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30214069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30214069</a>] [<a href="https://doi.org/10.1038/s41436-018-0262-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30214069">Cai et al. (2019)</a> identified 23 published studies regarding unilateral absence of the vas deferens and investigated the frequency of CFTR variants and renal abnormalities in these patients. Among 141 patients with congenital unilateral absence of the vas deferens (CUAVD), 60 (42.6%; pooled effect size 0.46) had at least 1 CFTR variant, with 43 (30.5%; pooled effect size 0.27) having 1 variant and 17 (12%; pooled effect size 0.05) having 2 variants. The pooled effect size CUAVD was 0.04 for F508del and 0.09 for the 5T allele. The summary odds ratio for 5T risk in CUAVD was 5.79 compared with normal controls and 2.82 compared with non-CAVD infertile males. The overall incidence of renal anomalies was 22% in CUAVD. The pooled odds ratio for renal anomalies risk among CUAVD patients was 4.85 compared with CBAVD patients. <a href="#4" class="mim-tip-reference" title="Cai, H., Qing, X., Niringiyumukiza, J. D., Zhan, X., Mo, D., Zhou, Y., Shang, X. <strong>CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.</strong> Genet. Med. 21: 826-836, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30214069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30214069</a>] [<a href="https://doi.org/10.1038/s41436-018-0262-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30214069">Cai et al. (2019)</a> concluded that CFTR variants are common in CUAVD, and the 5T allele may be associated with increased CUAVD risk. CUAVD patients bear a high risk of renal anomalies than CBAVD patients, but this is not associated with CFTR variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30214069" 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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Cai, H., Qing, X., Niringiyumukiza, J. D., Zhan, X., Mo, D., Zhou, Y., Shang, X.
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<strong>CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30214069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30214069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30214069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.-C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C., Estivill, X.
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<strong>Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.</strong>
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New Eng. J. Med. 332: 1475-1480, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7739684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7739684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7739684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199506013322204" target="_blank">Full Text</a>]
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Dumur, V., Gervais, R., Rigot, J.-M., Delomel-Vinner, E., Decaestecker, B., Lafitte, J.-J., Roussel, P.
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<strong>Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557264" 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/BF00218824" target="_blank">Full Text</a>]
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<a id="Gilgenkrantz1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gilgenkrantz, S., Guillemin, P., Kimmel, B.
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<strong>On the familial occurrence of congenital bilateral absence of vas deferens. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2311268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2311268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2311268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03495.x" target="_blank">Full Text</a>]
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<a id="Goshen1992" class="mim-anchor"></a>
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Goshen, R., Kerem, E., Shoshani, T., Kerem, B.-S., Feigin, E., Zamir, O., Yahav, Y.
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<strong>Cystic fibrosis manifested as undescended testis and absence of vas deferens.</strong>
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Pediatrics 90: 982-983, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1359500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1359500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1359500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Grangeia2007" class="mim-anchor"></a>
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Grangeia, A., Sa, R., Carvalho, F., Martin, J., Girodon, E., Silva, J., Ferraz, L., Barros, A., Sousa, M.
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<strong>Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.</strong>
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Genet. Med. 9: 163-172, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17413420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17413420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17413420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/gim.0b013e3180318aaf" target="_blank">Full Text</a>]
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<a id="Kaplan1968" class="mim-anchor"></a>
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Kaplan, E., Shwachman, H., Perlmutter, A. D., Rule, A., Khaw, K.-T., Holsclaw, D. S.
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<strong>Reproductive failure in males with cystic fibrosis.</strong>
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New Eng. J. Med. 279: 65-69, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5657013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5657013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5657013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM196807112790203" target="_blank">Full Text</a>]
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<a id="Kleczkowska1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kleczkowska, A., Fryns, J. P., Steeno, O., van den Berghe, H.
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<strong>On the familial occurrence of congenital bilateral absence of vas deferens.</strong>
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Clin. Genet. 35: 268-271, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2653673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2653673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2653673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02941.x" target="_blank">Full Text</a>]
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<a id="Martin1992" class="mim-anchor"></a>
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Martin, R. A., Lyons Jones, K., Downey, E. C.
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<strong>Congenital absence of the vas deferens: recurrence in a family.</strong>
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Am. J. Med. Genet. 42: 714-715, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632444" 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.1320420517" target="_blank">Full Text</a>]
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<a id="Mercier1995" class="mim-anchor"></a>
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Mercier, B., Verlingue, C., Lissens, W., Silber, S. J., Novelli, G., Bonduelle, M., Audrezet, M. P., Ferec, C.
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<strong>Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.</strong>
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Am. J. Hum. Genet. 56: 272-277, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7529962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Oppenheimer1969" class="mim-anchor"></a>
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<div class="">
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Oppenheimer, E. H., Esterly, J. R.
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<strong>Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system.</strong>
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J. Pediat. 75: 806-811, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5357932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5357932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5357932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(69)80303-3" target="_blank">Full Text</a>]
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<a id="Patat2016" class="mim-anchor"></a>
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Patat, O., Pagin, A., Siegfried, A., Mitchell, V., Chassaing, N., Faguer, S., Monteil, L., Gaston, V., Bujan, L., Courtade-Saidi, M., Marcelli, F., Lalau, G., Rigot, J.-M., Mieusset, R., Bieth, E.
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<strong>Truncating mutations in the adhesion G protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens.</strong>
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Am. J. Hum. Genet. 99: 437-442, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27476656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27476656</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27476656[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=27476656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.06.012" target="_blank">Full Text</a>]
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<a id="Rave-Harel1995" class="mim-anchor"></a>
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Rave-Harel, N., Madgar, I., Goshen, R., Nissim-Rafinia, M., Ziadni, A., Rahat, A., Chiba, O., Kalman, Y. M., Brautbar, C., Levinson, D., Augarten, A., Kerem, E., Kerem, B.
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<strong>CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.</strong>
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Am. J. Hum. Genet. 56: 1359-1366, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Rigot1991" class="mim-anchor"></a>
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Rigot, J.-M., Lafitte, J.-J., Dumur, V., Gervais, R., Manouvrier, S., Biserte, J., Mazeman, E., Roussel, P.
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<strong>Cystic fibrosis and congenital absence of the vas deferens. (Letter)</strong>
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New Eng. J. Med. 325: 64-65, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2046716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2046716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2046716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199107043250116" target="_blank">Full Text</a>]
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<a id="Schellen1980" class="mim-anchor"></a>
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Schellen, T. M. C. M., van Straaten, A.
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<strong>Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.</strong>
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Fertil. Steril. 34: 401-404, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7418895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7418895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7418895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0015-0282(16)45030-2" target="_blank">Full Text</a>]
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Silber, S. J., Ord, T., Balmaceda, J., Patrizio, P., Asch, R. H.
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<strong>Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm.</strong>
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New Eng. J. Med. 323: 1788-1792, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199012273232602" target="_blank">Full Text</a>]
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Sun, W., Anderson, B., Redman, J., Milunsky, A., Buller, A., McGinniss, M. J., Quan, F., Anguiano, A., Huang, S., Hantash, F., Strom, C.
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<strong>CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.</strong>
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Genet. Med. 8: 339-345, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16778595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16778595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16778595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/01.gim.0000223549.57443.16" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 03/04/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/29/2016<br>Ada Hamosh - updated : 8/2/2007<br>Ada Hamosh - updated : 7/25/2007<br>John F. Jackson - reorganized : 3/7/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 03/04/2020
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carol : 09/29/2016<br>terry : 06/03/2009<br>terry : 9/26/2008<br>alopez : 8/2/2007<br>alopez : 7/31/2007<br>terry : 7/25/2007<br>carol : 9/10/2001<br>carol : 3/7/1998<br>terry : 1/6/1995<br>carol : 5/16/1994<br>mimadm : 3/12/1994<br>carol : 10/13/1992<br>carol : 9/17/1992<br>carol : 5/18/1992
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<strong>#</strong> 277180
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VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
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CAVD
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Other entities represented in this entry:
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<span class="h3 mim-font">
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VAS DEFERENS, CONGENITAL UNILATERAL APLASIA OF, INCLUDED; CUAVD, INCLUDED
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<strong>SNOMEDCT:</strong> 275416002;
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<strong>ORPHA:</strong> 48;
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<strong>DO:</strong> 0111864;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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7q31.2
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Congenital bilateral absence of vas deferens
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277180
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Autosomal recessive
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3
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CFTR
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602421
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<p>A number sign (#) is used with this entry because at least one form of congenital bilateral aplasia of the vas deferens (CBAVD) is caused by homozygous or compound heterozygous mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR; 602421) on chromosome 7q31. Mutations in the same gene cause cystic fibrosis (219700).</p>
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<strong>Description</strong>
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<p>Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by Patat et al., 2016). </p><p><strong><em>Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens</em></strong></p><p>
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Also see CBAVDX (300985), caused by mutation in the ADGRG2 gene (300572).</p>
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<strong>Clinical Features</strong>
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<p>Congenital bilateral aplasia of the vas deferens (CBAVD), which leads to male infertility, may occur in isolation or as a manifestation of cystic fibrosis. Kaplan et al. (1968) found that males with cystic fibrosis are infertile because of failure of normal development of the vas deferens. Oppenheimer and Esterly (1969) concluded that the changes in the transport ducts of the male genital system are responsible for infertility and are not a developmental anomaly but a degenerative change due to obstruction similar to that which occurs in the pancreas and salivary glands in cystic fibrosis. </p><p>Augarten et al. (1994) suggested that CBAVD patients with renal malformations are likely not to have cystic fibrosis. They investigated 47 CBAVD patients by ultrasonography and found that 10 (21%) had renal malformations and 37 (79%) did not. In the former group, no cystic fibrosis mutations were found and sweat chloride concentrations were normal. In the latter group, 18 patients (49%) carried at least 1 cystic fibrosis mutation and sweat chloride was high in 17 of 26 tested (65%). </p><p>Dumur et al. (1996) concluded with others that, unlike forms of CBAVD accompanied by renal maldevelopment, most cases of CBAVD without renal agenesis are related to CF. They found that the sweat test is useful for demonstrating the connection, especially when genetic analysis has not characterized mutations on both alleles of the CF gene. </p>
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<strong>Inheritance</strong>
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<p>Schellen and van Straaten (1980) described 4 brothers, aged 31 to 42 years, with aplasia of the vasa deferentia. No parental consanguinity could be demonstrated by a genealogic tracing 'as far back as 1750.' No associated abnormalities were found. There was no evidence of cystic fibrosis in this family. </p><p>In a study of families of males with azoospermia and extreme oligozoospermia, Budde et al. (1984) found 2 brothers with congenital aplasia of the vasa deferentia. Czeizel (1985) reported 2 unrelated male sib-pairs with bilateral congenital aplasia of the vasa deferentia. Kleczkowska et al. (1989) and Gilgenkrantz et al. (1990) reported affected families. </p><p>Silber et al. (1990) used sperm aspirated from the epididymis of patients with congenital absence of the vas deferens to fertilize human oocytes in vitro. </p><p>Rigot et al. (1991) pointed to the risk attendant on the possibility that these males are carriers of a mild form of cystic fibrosis. They had examined 19 azoospermic men with aplasia of the epididymis and vas deferens and found that 8 were heterozygous for the delF508 deletion (602421.0001), the most common mutation causing cystic fibrosis. All but 1 had chronic sinusitis and 2 had sweat chloride levels close to 100 mmol per liter. Anguiano et al. (1992) reported similar findings. They studied 25 unselected, unrelated azoospermic men with CBAVD, most of them of northern European ancestry, who had presented to a male infertility clinic of a teaching hospital. In 16 (64%), at least 1 detectable CF mutation was found. Three of these 16 men were shown to be compound heterozygotes, one of whom had a previously undescribed mutation. This, they suggested, represents a primarily genital phenotype of CF. </p><p>Martin et al. (1992) reported 2 brothers with congenital absence of the vas deferens discovered in childhood during inguinal hernia repair. The vas was absent unilaterally in one and bilaterally in the other. Martin et al. (1992) suggested that X-linked recessive or autosomal dominant male-limited inheritance is more likely. All fathers of affected males should be examined for the presence of unilateral CBAVD. Theoretically, females carrying an autosomal dominant CBAVD gene should lack the normal remnant of wolffian duct regression (Gartner duct), while these remnants should be present in females carrying an X-linked recessive gene. The Gartner duct is clinically undetectable, however. </p>
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<strong>Molecular Genetics</strong>
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<p>See 602421 (e.g., 602421.0060) for mutations of the CFTR gene responsible for isolated bilateral absence of the vas deferens.</p><p>Goshen et al. (1992) described the case of a 2.5-year-old boy who was found to have fibrous replacement of the vas deferens when surgery was done for undescended testis and repair of an indirect inguinal hernia. One year later the patient developed diarrhea with steatorrhea, and sweat tests revealed elevated chloride. DNA studies demonstrated compound heterozygosity for the delF508 mutation and the trp1282-to-ter mutation (602421.0022). </p><p>To test the hypothesis of commonality of CBAVD and CF, Rave-Harel et al. (1995) reasoned that 2 brothers with CBAVD could be expected to carry the same 2 CFTR alleles, while their fertile brothers would be expected to carry at least one different allele. Eleven families were studied, of which 2 families, with unidentified CFTR mutations, did not support this hypothesis. In these families, 2 brothers with CBAVD inherited different CFTR alleles. Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD. The results suggested that although in some families CBAVD is associated with 2 CFTR mutations, in other families it is caused by other mechanisms, such as mutations at other loci or homozygosity or heterozygosity for partially penetrant CFTR mutations. </p><p>Mercier et al. (1995) analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with congenital bilateral aplasia of the vas deferens who were otherwise healthy. They identified 4 novel missense mutations: A800G, G149R, R258G, and E193K. They showed that 42% of these subjects were carriers of 1 CFTR allele and that 24% were compound heterozygotes for CFTR alleles. Thus, they were unable to identify the presence of 2 CFTR mutations in 76% of these patients. Furthermore, they described the segregation of CFTR haplotypes in the family of 1 CBAVD male; in this family, 2 male sibs with identical CFTR loci displayed different phenotypes, one of them being fertile and the other sterile. This suggested that one or more additional genes are involved in the etiology of CBAVD. </p><p>Chillon et al. (1995) characterized the mutations in the CFTR gene in 102 patients with CBAVD. They also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. (Studies of CFTR mRNA in tissues from normal persons have identified various mRNA molecules that lack exon 4, 9, or 12. Whether or not CFTR mRNA contains exon 9 depends on the variable length of a stretch of thymine residues in intron 8 of CFTR. This sequence, known as a polyT sequence, contains 5, 7, or 9 thymines (the 5T, 7T, and 9T alleles, respectively). Since the 5T allele causes reduced levels of normal CFTR mRNA, this variant would appear likely to be involved in the pathogenesis of CBAVD.) In 19 of the 102 patients, mutations in both copies of the CFTR gene were found, and none of these had the 5T allele. A mutation was found in 1 copy of CFTR in 54 patients, and 34 of them (63%) had the 5T allele in the other CFTR gene. No CFTR mutations were found in 29 patients, but 7 of them (24%) had the 5T allele. The frequency of this allele in the general population is about 5%. </p><p>Chillon et al. (1995) concluded that the combination of the 5T allele in 1 copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD. The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men. </p><p>Grangeia et al. (2007) screened DNA samples from 45 patients with congenital absence of the vas deferens by different molecular approaches, including screening for the 31 most frequent CF mutations. This approach identified 8 common mutations were identified in 40 patients. Denaturing gradient gel electrophoresis, denaturing high performance liquid chromatography, and DNA sequencing identified 17 additional mutations, 3 of which were novel. Semiquantitative fluorescent multiplex PCR detected a 21-kb deletion (602421.0123) in 1 individual and confirmed the true homozygosity of 2 individuals. Overall, 42 patients (93.3%) had 2 mutations and 3 patients (6.7%) had 1 mutation detected. </p><p>Sun et al. (2006) analyzed the polymorphic TG dinucleotide repeat adjacent to the 5T variant in intron 8 and the codon 470 in exon 10 to determine the haplotype of the 5T variant in trans. The authors evaluated 12 males affected with congenital bilateral absence of vas deferens and positive for the 5T variant and found that 10 of 12 had the 12TG-5T-470V haplotype. </p><p>Cai et al. (2019) identified 23 published studies regarding unilateral absence of the vas deferens and investigated the frequency of CFTR variants and renal abnormalities in these patients. Among 141 patients with congenital unilateral absence of the vas deferens (CUAVD), 60 (42.6%; pooled effect size 0.46) had at least 1 CFTR variant, with 43 (30.5%; pooled effect size 0.27) having 1 variant and 17 (12%; pooled effect size 0.05) having 2 variants. The pooled effect size CUAVD was 0.04 for F508del and 0.09 for the 5T allele. The summary odds ratio for 5T risk in CUAVD was 5.79 compared with normal controls and 2.82 compared with non-CAVD infertile males. The overall incidence of renal anomalies was 22% in CUAVD. The pooled odds ratio for renal anomalies risk among CUAVD patients was 4.85 compared with CBAVD patients. Cai et al. (2019) concluded that CFTR variants are common in CUAVD, and the 5T allele may be associated with increased CUAVD risk. CUAVD patients bear a high risk of renal anomalies than CBAVD patients, but this is not associated with CFTR variants. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Anguiano, A., Oates, R. D., Amos, J. A., Dean, M., Gerrard, B., Stewart, C., Maher, T. A., White, M. B., Milunsky, A.
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<strong>Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis.</strong>
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JAMA 267: 1794-1797, 1992.
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[PubMed: 1545465]
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Augarten, A., Yahav, Y., Kerem, B. S., Halle, D., Laufer, J., Szeinberg, A., Dor, J., Mashiach, S., Gazit, E., Madgar, I.
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<strong>Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.</strong>
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Lancet 344: 1473-1474, 1994.
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[PubMed: 7968122]
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[Full Text: https://doi.org/10.1016/s0140-6736(94)90292-5]
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Budde, W. J. A. M., Verjaal, M., Hamerlynck, J. V. T. H., Bobrow, M.
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<strong>Familial occurrence of azoospermia and extreme oligozoospermia.</strong>
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Clin. Genet. 26: 555-562, 1984.
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[PubMed: 6499267]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb01103.x]
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Cai, H., Qing, X., Niringiyumukiza, J. D., Zhan, X., Mo, D., Zhou, Y., Shang, X.
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<strong>CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.</strong>
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Genet. Med. 21: 826-836, 2019.
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[PubMed: 30214069]
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[Full Text: https://doi.org/10.1038/s41436-018-0262-7]
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Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.-C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C., Estivill, X.
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<strong>Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.</strong>
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New Eng. J. Med. 332: 1475-1480, 1995.
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[PubMed: 7739684]
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[Full Text: https://doi.org/10.1056/NEJM199506013322204]
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<li>
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<p class="mim-text-font">
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Czeizel, A.
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<strong>Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs.</strong>
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Hum. Genet. 70: 288 only, 1985.
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[PubMed: 4018795]
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[Full Text: https://doi.org/10.1007/BF00273461]
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<li>
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<p class="mim-text-font">
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Dumur, V., Gervais, R., Rigot, J.-M., Delomel-Vinner, E., Decaestecker, B., Lafitte, J.-J., Roussel, P.
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<strong>Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.</strong>
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Hum. Genet. 97: 7-10, 1996.
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[PubMed: 8557264]
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[Full Text: https://doi.org/10.1007/BF00218824]
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<p class="mim-text-font">
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Gilgenkrantz, S., Guillemin, P., Kimmel, B.
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<strong>On the familial occurrence of congenital bilateral absence of vas deferens. (Letter)</strong>
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Clin. Genet. 37: 159 only, 1990.
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[PubMed: 2311268]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03495.x]
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Kleczkowska, A., Fryns, J. P., Steeno, O., van den Berghe, H.
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Martin, R. A., Lyons Jones, K., Downey, E. C.
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<strong>Congenital absence of the vas deferens: recurrence in a family.</strong>
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Mercier, B., Verlingue, C., Lissens, W., Silber, S. J., Novelli, G., Bonduelle, M., Audrezet, M. P., Ferec, C.
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Am. J. Hum. Genet. 56: 272-277, 1995.
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Oppenheimer, E. H., Esterly, J. R.
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<strong>Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system.</strong>
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Patat, O., Pagin, A., Siegfried, A., Mitchell, V., Chassaing, N., Faguer, S., Monteil, L., Gaston, V., Bujan, L., Courtade-Saidi, M., Marcelli, F., Lalau, G., Rigot, J.-M., Mieusset, R., Bieth, E.
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<strong>Truncating mutations in the adhesion G protein-coupled receptor G2 gene ADGRG2 cause an X-linked congenital bilateral absence of vas deferens.</strong>
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Rave-Harel, N., Madgar, I., Goshen, R., Nissim-Rafinia, M., Ziadni, A., Rahat, A., Chiba, O., Kalman, Y. M., Brautbar, C., Levinson, D., Augarten, A., Kerem, E., Kerem, B.
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<strong>CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.</strong>
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Am. J. Hum. Genet. 56: 1359-1366, 1995.
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[PubMed: 7539210]
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Rigot, J.-M., Lafitte, J.-J., Dumur, V., Gervais, R., Manouvrier, S., Biserte, J., Mazeman, E., Roussel, P.
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<strong>Cystic fibrosis and congenital absence of the vas deferens. (Letter)</strong>
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Schellen, T. M. C. M., van Straaten, A.
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<strong>Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.</strong>
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[PubMed: 7418895]
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[Full Text: https://doi.org/10.1016/s0015-0282(16)45030-2]
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Silber, S. J., Ord, T., Balmaceda, J., Patrizio, P., Asch, R. H.
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<strong>Congenital absence of the vas deferens: the fertilizing capacity of human epididymal sperm.</strong>
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New Eng. J. Med. 323: 1788-1792, 1990.
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[PubMed: 2247117]
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[Full Text: https://doi.org/10.1056/NEJM199012273232602]
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Sun, W., Anderson, B., Redman, J., Milunsky, A., Buller, A., McGinniss, M. J., Quan, F., Anguiano, A., Huang, S., Hantash, F., Strom, C.
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<strong>CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.</strong>
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Genet. Med. 8: 339-345, 2006.
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[PubMed: 16778595]
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