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Entry
- #617883 - FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
- OMIM
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<span class="h4">#617883</span>
<br />
<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/617883"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS227650"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=FANCONI ANEMIA, COMPLEMENTATION GROUP S" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=634&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 84<br />
<strong>DO:</strong> 0060979<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
617883
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/610?start=-3&limit=10&highlight=610">
17q21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Fanconi anemia, complementation group S
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617883"> 617883 </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">
BRCA1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113705"> 113705 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/617883" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS227650" 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>
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</div>
&nbsp;
<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/617883" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/617883" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal 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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
Poor overall growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
Dysmorphic features, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015145</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253978002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253978002</a>]</span><br /> -
Macrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12458006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12458006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235081004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235081004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266079&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266079</a>, <a href="https://bioportal.bioontology.org/search?q=C2729166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2729166</a>, <a href="https://bioportal.bioontology.org/search?q=C2227134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2227134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thick earlobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279305</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Upslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br /> -
Long eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Small alae nasi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855615</a>]</span><br /> -
Anteverted nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1398312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1398312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Thick upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000215</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71485000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71485000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266036</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001572</a>]</span><br /> -
Dental malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Radial ray anomalies (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410049</a>]</span><br /> -
Hyperextensible knees <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Proximally placed thumbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009623</a>]</span><br /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pigmentary abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552307</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low anterior hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842366</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,Low_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Intellectual disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Anemia (when stressed, in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased susceptibility to cancer <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552221</a>]</span><br /> -
Breast cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254838004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254837009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254837009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C50-C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50-C50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678222</a>, <a href="https://bioportal.bioontology.org/search?q=C0006142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003002</a>]</span><br /> -
Ovarian cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363443007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363443007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123843001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123843001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C56</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/183.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">183.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1140680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1140680</a>, <a href="https://bioportal.bioontology.org/search?q=C0919267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0919267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100615</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100615</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased chromosomal breakage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376628</a>, <a href="https://bioportal.bioontology.org/search?q=C1859424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040012</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040012</a>]</span><br />
</span>
</div>
</div>
</div>
<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 mutation in the BRCA1 DNA repair-associated protein gene (BRCA1, <a href="/entry/113705#0038">113705.0038</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Fanconi anemia
- <a href="/phenotypicSeries/PS227650">PS227650</a>
- 21 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/1/154?start=-3&limit=10&highlight=154"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617243"> ?Fanconi anemia, complementation group V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617243"> 617243 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604094"> MAD2L2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604094"> 604094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1580?start=-3&limit=10&highlight=1580"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616435"> Fanconi anemia, complementation group T </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616435"> 616435 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610538"> UBE2T </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610538"> 610538 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/274?start=-3&limit=10&highlight=274"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614083"> Fanconi anemia, complementation group L </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614083"> 614083 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608111"> PHF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608111"> 608111 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/49?start=-3&limit=10&highlight=49"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227646"> Fanconi anemia, complementation group D2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227646"> 227646 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613984"> FANCD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613984"> 613984 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/427?start=-3&limit=10&highlight=427"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600901"> Fanconi anemia, complementation group E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600901"> 600901 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613976"> FANCE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613976"> 613976 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/844?start=-3&limit=10&highlight=844"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617247"> ?Fanconi anemia, complementation group U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617247"> 617247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600375"> XRCC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600375"> 600375 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/161?start=-3&limit=10&highlight=161"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614082"> Fanconi anemia, complementation group G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614082"> 614082 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602956"> XRCC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602956"> 602956 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/330?start=-3&limit=10&highlight=330"> 9q22.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227645"> Fanconi anemia, complementation group C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227645"> 227645 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613899"> FANCC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613899"> 613899 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/245?start=-3&limit=10&highlight=245"> 11p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603467"> Fanconi anemia, complementation group F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603467"> 603467 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613897"> FANCF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613897"> 613897 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/83?start=-3&limit=10&highlight=83"> 13q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605724"> Fanconi anemia, complementation group D1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605724"> 605724 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600185"> BRCA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600185"> 600185 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/103?start=-3&limit=10&highlight=103"> 15q15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617244"> Fanconi anemia, complementation group R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617244"> 617244 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179617"> RAD51 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179617"> 179617 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/497?start=-3&limit=10&highlight=497"> 15q26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609053"> Fanconi anemia, complementation group I </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/609053"> 609053 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611360"> FANCI </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611360"> 611360 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/147?start=-3&limit=10&highlight=147"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613951"> Fanconi anemia, complementation group P </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613951"> 613951 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613278"> SLX4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613278"> 613278 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/205?start=-3&limit=10&highlight=205"> 16p13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615272"> Fanconi anemia, complementation group Q </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615272"> 615272 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133520"> ERCC4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133520"> 133520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/278?start=-3&limit=10&highlight=278"> 16p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610832"> Fanconi anemia, complementation group N </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610832"> 610832 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610355"> PALB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610355"> 610355 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/638?start=-3&limit=10&highlight=638"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617784"> ?Fanconi anemia, complementation group W </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617784"> 617784 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614151"> RFWD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614151"> 614151 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/754?start=-3&limit=10&highlight=754"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227650"> Fanconi anemia, complementation group A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227650"> 227650 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607139"> FANCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607139"> 607139 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/610?start=-3&limit=10&highlight=610"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617883"> Fanconi anemia, complementation group S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617883"> 617883 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113705"> BRCA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113705"> 113705 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/792?start=-3&limit=10&highlight=792"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613390"> Fanconi anemia, complementation group O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613390"> 613390 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602774"> RAD51C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602774"> 602774 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/824?start=-3&limit=10&highlight=824"> 17q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609054"> Fanconi anemia, complementation group J </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609054"> 609054 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605882"> BRIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605882"> 605882 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/74?start=-3&limit=10&highlight=74"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300514"> Fanconi anemia, complementation group B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300514"> 300514 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300515"> FANCB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300515"> 300515 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that Fanconi anemia complementation group S (FANCS) is caused by compound heterozygous or homozygous mutation in the BRCA1 gene (<a href="/entry/113705">113705</a>) on chromosome 17q21.</p><p>Heterozygous mutation in the BRCA1 gene can also cause susceptibility to familial breast-ovarian cancer-1 (BROVCA1; <a href="/entry/604370">604370</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
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<p>Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by <a href="#2" class="mim-tip-reference" title="Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L. &lt;strong&gt;Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report&lt;/strong&gt; Europ. J. Med. Genet. 61: 130-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29133208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29133208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2017.11.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29133208">Freire et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29133208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see <a href="/entry/227650">227650</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Domchek, S. M., Tang, J., Stopfer, J., Lilli, D. R., Hamel, N., Tischkowitz, M., Monteiro, A. N. A., Messick, T. E., Powers, J., Yonker, A., Couch, F. J., Goldgar, D. E., Davidson, H. R., Nathanson, K. L., Foulkes, W. D., Greenberg, R. A. &lt;strong&gt;Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.&lt;/strong&gt; Cancer Discov. 3: 399-405, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23269703/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23269703&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1158/2159-8290.CD-12-0421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23269703">Domchek et al. (2012)</a> reported a 28-year-old woman with a complex phenotype suggesting Fanconi anemia. The patient presented with stage IV papillary serous ovarian carcinoma at age 28 years. She had a significant medical history of microcephaly, short stature, and developmental delay with limited speech. She had coarse features with low anterior hairline, macrognathia, prominent nasal bridge, and small alae nasi; she did not have obvious abnormalities of the thumb or radial ray. Although she had normal blood count at presentation, she developed significant toxicity and bone marrow failure resulting in death after chemotherapeutic treatment with an interstrand crosslinking agent. The patient had a family history of breast and ovarian cancer in the maternal line and a history of various cancers in the paternal line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23269703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Sawyer, S. L., Tian, L., Kahkonen, M., Schwartzentruber, J., Kircher, M., University of Washington Centre for Mendelian Genomics, FORGE Canada Consortium, Majewski, J., Dyment, D. A., Innes, A. M., Boycott, K. M., Moreau, L. A., Moilanen, J. S., Greenberg, R. A. &lt;strong&gt;Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.&lt;/strong&gt; Cancer Discov. 5: 135-142, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25472942/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25472942&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1158/2159-8290.CD-14-1156&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25472942">Sawyer et al. (2014)</a> reported a woman, born of unrelated Finnish parents, who presented at birth with microsomia and dysmorphic features, including microcephaly, sparse hair, upslanting palpebral fissures, blepharophimosis, epicanthal folds, hypertelorism, narrow palate with dental malocclusion, and hyper- and hypopigmented skin lesions. She also had short stature, duodenal stenosis, proximally placed thumbs, and hyperextensible knees. She had delayed speech and mild intellectual disability. Additional features included conductive hearing loss and a history of hip dislocation. At age 23 years, she was diagnosed with ductal breast carcinoma. She did not experience unusual treatment-associated toxicity, and she did not have bone marrow failure. Patient lymphocytes showed increased chromosomal breakage and radial chromosome formation compared to controls, consistent with a diagnosis of Fanconi anemia. There was a strong family history of cancer on both sides, including ovarian, endometrial, and stomach cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25472942" 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="Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L. &lt;strong&gt;Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report&lt;/strong&gt; Europ. J. Med. Genet. 61: 130-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29133208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29133208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2017.11.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29133208">Freire et al. (2018)</a> reported a 2.5-year-old girl, born of consanguineous Brazilian parents, with FANCS. She had intrauterine growth retardation, microcephaly (-7.7 SD), short stature (-6.1 SD), failure to thrive, delayed development, and dysmorphic facial features, including thickened earlobes, long eyelashes, microphthalmia, full upper lip, large teeth, anteverted nose, clinodactyly, and hyperchromic spots on the trunk and feet. Her blood counts were normal, and she did not have radial ray abnormalities. Genetic testing for the cause of short stature revealed BRCA1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29133208" 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="Seo, A., Steinberg-Shemer, O., Unal, S., Casadei, S., Walsh, T., Gumruk, F., Shalev, S., Shimamura, A., Akarsu, N. A., Tamary, H., King, M.-C. &lt;strong&gt;Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.&lt;/strong&gt; Proc. Nat. Acad. Sci. 115: 5241-5246, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29712865/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29712865&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.1801796115&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29712865">Seo et al. (2018)</a> reported 4 children from 2 unrelated consanguineous families (family A of Arab descent and family B of Turkish descent) who were born with multiple congenital anomalies and severe chromosomal fragility. All 4 children had failure to thrive, microcephaly, global developmental delay with impaired intellectual development, microphthalmia, and skin pigmentation lesions. Two sibs in family A had dysmorphic features, including triangular facies, upslanting palpebral fissures, and micrognathia. The 2 sibs in family B had brain gliosis. One child in family A developed fatal T-cell acute lymphoblastic leukemia at age 5, and 1 child in family B developed a neuroblastoma at age 2. Although chromosome breakage was increased in vitro, none of the patients had anemia or bone marrow failure. The patient with neuroblastoma was able to tolerate chemotherapy, which is unusual for a patient with Fanconi anemia, suggesting some residual BRCA1 function. Both families had a history of cancers, including intestinal, urologic, lung, and esophageal, although none of the 4 parents had cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29712865" 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>The transmission pattern of FANCS in the family reported by <a href="#2" class="mim-tip-reference" title="Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L. &lt;strong&gt;Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report&lt;/strong&gt; Europ. J. Med. Genet. 61: 130-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29133208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29133208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2017.11.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29133208">Freire et al. (2018)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29133208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 28-year-old woman with a complex phenotype consistent with FANCS, <a href="#1" class="mim-tip-reference" title="Domchek, S. M., Tang, J., Stopfer, J., Lilli, D. R., Hamel, N., Tischkowitz, M., Monteiro, A. N. A., Messick, T. E., Powers, J., Yonker, A., Couch, F. J., Goldgar, D. E., Davidson, H. R., Nathanson, K. L., Foulkes, W. D., Greenberg, R. A. &lt;strong&gt;Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.&lt;/strong&gt; Cancer Discov. 3: 399-405, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23269703/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23269703&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1158/2159-8290.CD-12-0421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23269703">Domchek et al. (2012)</a> identified 2 mutations in the BRCA1 gene (V1736A, <a href="/entry/113705#0038">113705.0038</a> and c.2457delC, <a href="/entry/113705#0039">113705.0039</a>), as well as a variant of unknown significance in the BRCA2 gene (c.971G-C, R324T). In vitro functional expression studies showed that the BRCA1 V1736A variant was a hypomorphic allele, with decreased localization to double-strand breaks and decreased interaction with RAP80 (UIMC1; <a href="/entry/609433">609433</a>) compared to wildtype. No studies of the BRCA2 variant were performed. The patient's mother died of ovarian cancer at age 55; her DNA was not available. A maternal great-aunt with both breast and ovarian cancer carried a heterozygous V1736A mutation, and another maternal great-aunt with peritoneal cancer carried the V1736A mutation and the BRCA2 R324T variant. A heterozygous V1736A mutation was also found in 2 unaffected family members. Tumor tissue from the patients with a heterozygous V1736A mutation showed loss of heterozygosity for the wildtype BRCA1 allele, suggesting that the V1736A mutation is pathogenic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23269703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Sawyer, S. L., Tian, L., Kahkonen, M., Schwartzentruber, J., Kircher, M., University of Washington Centre for Mendelian Genomics, FORGE Canada Consortium, Majewski, J., Dyment, D. A., Innes, A. M., Boycott, K. M., Moreau, L. A., Moilanen, J. S., Greenberg, R. A. &lt;strong&gt;Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.&lt;/strong&gt; Cancer Discov. 5: 135-142, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25472942/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25472942&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1158/2159-8290.CD-14-1156&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25472942">Sawyer et al. (2014)</a> reported a woman with FANCS who was compound heterozygous for mutations in the BRCA1 gene (R1699W, <a href="/entry/113705#0040">113705.0040</a> and c.594_597del4, <a href="/entry/113705#0041">113705.0041</a>). Patient lymphocytes showed increased chromosomal breakage and radial chromosome formation compared to controls. The patient's mother, who was heterozygous for the 4-bp deletion, had ovarian cancer. There was a strong family history of cancer, including ovarian, endometrial, and stomach cancer. Studies of patient cells showed decreased BRCA1 and RAD51 (<a href="/entry/179617">179617</a>) foci in response to insult, suggesting impaired double-strand break repair function. Ectopic expression of wildtype BRCA1 restored these repair functions. The R1699W mutation had previously been identified in heterozygous state in a Scandinavian family (LUND279) segregating breast and ovarian cancer by <a href="#5" class="mim-tip-reference" title="Vallon-Christersson, J., Cayanan, C., Haraldsson, K., Loman, N., Bergthorsson, J. T., Brondum-Nielsen, K., Gerdes, A.-M., Moller, P., Kristoffersson, U., Olsson, H., Borg, A., Monteiro, A. N. A. &lt;strong&gt;Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.&lt;/strong&gt; Hum. Molec. Genet. 10: 353-360, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11157798/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11157798&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.4.353&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11157798">Vallon-Christersson et al. (2001)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11157798+25472942" 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 2.5-year-old girl, born of consanguineous Brazilian parents, with FANCS, <a href="#2" class="mim-tip-reference" title="Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L. &lt;strong&gt;Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report&lt;/strong&gt; Europ. J. Med. Genet. 61: 130-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29133208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29133208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2017.11.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29133208">Freire et al. (2018)</a> identified a homozygous nonsense mutation in the BRCA1 gene (C903X; <a href="/entry/113705#0042">113705.0042</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was found in heterozygous state in her parents. Patient cells showed increased chromosomal breakage compared to controls. The patient's mother was subsequently screened and found to have breast cancer. There was additional family history of breast cancer on the maternal side. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29133208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients from 2 unrelated consanguineous Middle Eastern families with a complex phenotype consistent with FANCS, <a href="#4" class="mim-tip-reference" title="Seo, A., Steinberg-Shemer, O., Unal, S., Casadei, S., Walsh, T., Gumruk, F., Shalev, S., Shimamura, A., Akarsu, N. A., Tamary, H., King, M.-C. &lt;strong&gt;Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.&lt;/strong&gt; Proc. Nat. Acad. Sci. 115: 5241-5246, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29712865/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29712865&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.1801796115&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29712865">Seo et al. (2018)</a> identified homozygous nonsense mutations in the BRCA1 gene (W372X, <a href="/entry/113705#0043">113705.0043</a> and L431X, <a href="/entry/113705#0044">113705.0044</a>). Both mutations, as well as the previously reported C903X mutation (<a href="#2" class="mim-tip-reference" title="Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L. &lt;strong&gt;Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report&lt;/strong&gt; Europ. J. Med. Genet. 61: 130-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29133208/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29133208&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2017.11.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29133208">Freire et al., 2018</a>), occurred in exon 11. Complete loss of BRCA1 was thought to be embryonic lethal; however, homozygosity for these nonsense mutations was viable in these patients due to the presence of a naturally occurring alternative splice donor in BRCA1 exon 11 that lies 5-prime to the mutations and produces 2 short isoforms that lack the residues affected by the mutations. Fibroblasts derived from 1 patient showed no detectable full-length BRCA1 protein, but had protein levels corresponding to one of the normal isoforms that retain some capacity to repair DNA damage and can partially compensate for loss of the full-length protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29712865+29133208" 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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<a id="Domchek2012" class="mim-anchor"></a>
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Domchek, S. M., Tang, J., Stopfer, J., Lilli, D. R., Hamel, N., Tischkowitz, M., Monteiro, A. N. A., Messick, T. E., Powers, J., Yonker, A., Couch, F. J., Goldgar, D. E., Davidson, H. R., Nathanson, K. L., Foulkes, W. D., Greenberg, R. A.
<strong>Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.</strong>
Cancer Discov. 3: 399-405, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23269703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23269703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23269703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1158/2159-8290.CD-12-0421" target="_blank">Full Text</a>]
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<a id="Freire2018" class="mim-anchor"></a>
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Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L.
<strong>Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report</strong>
Europ. J. Med. Genet. 61: 130-133, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29133208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29133208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29133208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2017.11.003" target="_blank">Full Text</a>]
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Sawyer, S. L., Tian, L., Kahkonen, M., Schwartzentruber, J., Kircher, M., University of Washington Centre for Mendelian Genomics, FORGE Canada Consortium, Majewski, J., Dyment, D. A., Innes, A. M., Boycott, K. M., Moreau, L. A., Moilanen, J. S., Greenberg, R. A.
<strong>Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.</strong>
Cancer Discov. 5: 135-142, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25472942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25472942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25472942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1158/2159-8290.CD-14-1156" target="_blank">Full Text</a>]
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<a id="Seo2018" class="mim-anchor"></a>
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Seo, A., Steinberg-Shemer, O., Unal, S., Casadei, S., Walsh, T., Gumruk, F., Shalev, S., Shimamura, A., Akarsu, N. A., Tamary, H., King, M.-C.
<strong>Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.</strong>
Proc. Nat. Acad. Sci. 115: 5241-5246, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29712865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29712865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29712865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.1801796115" target="_blank">Full Text</a>]
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<a id="Vallon-Christersson2001" class="mim-anchor"></a>
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Vallon-Christersson, J., Cayanan, C., Haraldsson, K., Loman, N., Bergthorsson, J. T., Brondum-Nielsen, K., Gerdes, A.-M., Moller, P., Kristoffersson, U., Olsson, H., Borg, A., Monteiro, A. N. A.
<strong>Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.</strong>
Hum. Molec. Genet. 10: 353-360, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/10.4.353" target="_blank">Full Text</a>]
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Contributors:
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Cassandra L. Kniffin - updated : 04/16/2019
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Cassandra L. Kniffin : 02/22/2018
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carol : 04/18/2019
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carol : 04/17/2019<br>carol : 04/16/2019<br>ckniffin : 04/16/2019<br>carol : 03/07/2018<br>ckniffin : 02/27/2018
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<strong>#</strong> 617883
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FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
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<strong>ORPHA:</strong> 84; &nbsp;
<strong>DO:</strong> 0060979; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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17q21.31
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Fanconi anemia, complementation group S
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617883
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Autosomal recessive
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3
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BRCA1
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113705
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Fanconi anemia complementation group S (FANCS) is caused by compound heterozygous or homozygous mutation in the BRCA1 gene (113705) on chromosome 17q21.</p><p>Heterozygous mutation in the BRCA1 gene can also cause susceptibility to familial breast-ovarian cancer-1 (BROVCA1; 604370).</p>
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<strong>Description</strong>
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<p>Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018). </p><p>For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.</p>
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<strong>Clinical Features</strong>
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<p>Domchek et al. (2012) reported a 28-year-old woman with a complex phenotype suggesting Fanconi anemia. The patient presented with stage IV papillary serous ovarian carcinoma at age 28 years. She had a significant medical history of microcephaly, short stature, and developmental delay with limited speech. She had coarse features with low anterior hairline, macrognathia, prominent nasal bridge, and small alae nasi; she did not have obvious abnormalities of the thumb or radial ray. Although she had normal blood count at presentation, she developed significant toxicity and bone marrow failure resulting in death after chemotherapeutic treatment with an interstrand crosslinking agent. The patient had a family history of breast and ovarian cancer in the maternal line and a history of various cancers in the paternal line. </p><p>Sawyer et al. (2014) reported a woman, born of unrelated Finnish parents, who presented at birth with microsomia and dysmorphic features, including microcephaly, sparse hair, upslanting palpebral fissures, blepharophimosis, epicanthal folds, hypertelorism, narrow palate with dental malocclusion, and hyper- and hypopigmented skin lesions. She also had short stature, duodenal stenosis, proximally placed thumbs, and hyperextensible knees. She had delayed speech and mild intellectual disability. Additional features included conductive hearing loss and a history of hip dislocation. At age 23 years, she was diagnosed with ductal breast carcinoma. She did not experience unusual treatment-associated toxicity, and she did not have bone marrow failure. Patient lymphocytes showed increased chromosomal breakage and radial chromosome formation compared to controls, consistent with a diagnosis of Fanconi anemia. There was a strong family history of cancer on both sides, including ovarian, endometrial, and stomach cancer. </p><p>Freire et al. (2018) reported a 2.5-year-old girl, born of consanguineous Brazilian parents, with FANCS. She had intrauterine growth retardation, microcephaly (-7.7 SD), short stature (-6.1 SD), failure to thrive, delayed development, and dysmorphic facial features, including thickened earlobes, long eyelashes, microphthalmia, full upper lip, large teeth, anteverted nose, clinodactyly, and hyperchromic spots on the trunk and feet. Her blood counts were normal, and she did not have radial ray abnormalities. Genetic testing for the cause of short stature revealed BRCA1 mutations. </p><p>Seo et al. (2018) reported 4 children from 2 unrelated consanguineous families (family A of Arab descent and family B of Turkish descent) who were born with multiple congenital anomalies and severe chromosomal fragility. All 4 children had failure to thrive, microcephaly, global developmental delay with impaired intellectual development, microphthalmia, and skin pigmentation lesions. Two sibs in family A had dysmorphic features, including triangular facies, upslanting palpebral fissures, and micrognathia. The 2 sibs in family B had brain gliosis. One child in family A developed fatal T-cell acute lymphoblastic leukemia at age 5, and 1 child in family B developed a neuroblastoma at age 2. Although chromosome breakage was increased in vitro, none of the patients had anemia or bone marrow failure. The patient with neuroblastoma was able to tolerate chemotherapy, which is unusual for a patient with Fanconi anemia, suggesting some residual BRCA1 function. Both families had a history of cancers, including intestinal, urologic, lung, and esophageal, although none of the 4 parents had cancer. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FANCS in the family reported by Freire et al. (2018) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 28-year-old woman with a complex phenotype consistent with FANCS, Domchek et al. (2012) identified 2 mutations in the BRCA1 gene (V1736A, 113705.0038 and c.2457delC, 113705.0039), as well as a variant of unknown significance in the BRCA2 gene (c.971G-C, R324T). In vitro functional expression studies showed that the BRCA1 V1736A variant was a hypomorphic allele, with decreased localization to double-strand breaks and decreased interaction with RAP80 (UIMC1; 609433) compared to wildtype. No studies of the BRCA2 variant were performed. The patient's mother died of ovarian cancer at age 55; her DNA was not available. A maternal great-aunt with both breast and ovarian cancer carried a heterozygous V1736A mutation, and another maternal great-aunt with peritoneal cancer carried the V1736A mutation and the BRCA2 R324T variant. A heterozygous V1736A mutation was also found in 2 unaffected family members. Tumor tissue from the patients with a heterozygous V1736A mutation showed loss of heterozygosity for the wildtype BRCA1 allele, suggesting that the V1736A mutation is pathogenic. </p><p>Sawyer et al. (2014) reported a woman with FANCS who was compound heterozygous for mutations in the BRCA1 gene (R1699W, 113705.0040 and c.594_597del4, 113705.0041). Patient lymphocytes showed increased chromosomal breakage and radial chromosome formation compared to controls. The patient's mother, who was heterozygous for the 4-bp deletion, had ovarian cancer. There was a strong family history of cancer, including ovarian, endometrial, and stomach cancer. Studies of patient cells showed decreased BRCA1 and RAD51 (179617) foci in response to insult, suggesting impaired double-strand break repair function. Ectopic expression of wildtype BRCA1 restored these repair functions. The R1699W mutation had previously been identified in heterozygous state in a Scandinavian family (LUND279) segregating breast and ovarian cancer by Vallon-Christersson et al. (2001). </p><p>In a 2.5-year-old girl, born of consanguineous Brazilian parents, with FANCS, Freire et al. (2018) identified a homozygous nonsense mutation in the BRCA1 gene (C903X; 113705.0042). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was found in heterozygous state in her parents. Patient cells showed increased chromosomal breakage compared to controls. The patient's mother was subsequently screened and found to have breast cancer. There was additional family history of breast cancer on the maternal side. </p><p>In 4 patients from 2 unrelated consanguineous Middle Eastern families with a complex phenotype consistent with FANCS, Seo et al. (2018) identified homozygous nonsense mutations in the BRCA1 gene (W372X, 113705.0043 and L431X, 113705.0044). Both mutations, as well as the previously reported C903X mutation (Freire et al., 2018), occurred in exon 11. Complete loss of BRCA1 was thought to be embryonic lethal; however, homozygosity for these nonsense mutations was viable in these patients due to the presence of a naturally occurring alternative splice donor in BRCA1 exon 11 that lies 5-prime to the mutations and produces 2 short isoforms that lack the residues affected by the mutations. Fibroblasts derived from 1 patient showed no detectable full-length BRCA1 protein, but had protein levels corresponding to one of the normal isoforms that retain some capacity to repair DNA damage and can partially compensate for loss of the full-length protein. </p>
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<strong>REFERENCES</strong>
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</h4>
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<p />
</div>
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<ol>
<li>
<p class="mim-text-font">
Domchek, S. M., Tang, J., Stopfer, J., Lilli, D. R., Hamel, N., Tischkowitz, M., Monteiro, A. N. A., Messick, T. E., Powers, J., Yonker, A., Couch, F. J., Goldgar, D. E., Davidson, H. R., Nathanson, K. L., Foulkes, W. D., Greenberg, R. A.
<strong>Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.</strong>
Cancer Discov. 3: 399-405, 2012.
[PubMed: 23269703]
[Full Text: https://doi.org/10.1158/2159-8290.CD-12-0421]
</p>
</li>
<li>
<p class="mim-text-font">
Freire, B. L., Homma, T. K., Funari, M. F. A., Lerario, A. M., Leal, A. M., Velloso, E. D. R. P., Malaquias, A. C., Jorge, A. A. L.
<strong>Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report</strong>
Europ. J. Med. Genet. 61: 130-133, 2018.
[PubMed: 29133208]
[Full Text: https://doi.org/10.1016/j.ejmg.2017.11.003]
</p>
</li>
<li>
<p class="mim-text-font">
Sawyer, S. L., Tian, L., Kahkonen, M., Schwartzentruber, J., Kircher, M., University of Washington Centre for Mendelian Genomics, FORGE Canada Consortium, Majewski, J., Dyment, D. A., Innes, A. M., Boycott, K. M., Moreau, L. A., Moilanen, J. S., Greenberg, R. A.
<strong>Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.</strong>
Cancer Discov. 5: 135-142, 2014.
[PubMed: 25472942]
[Full Text: https://doi.org/10.1158/2159-8290.CD-14-1156]
</p>
</li>
<li>
<p class="mim-text-font">
Seo, A., Steinberg-Shemer, O., Unal, S., Casadei, S., Walsh, T., Gumruk, F., Shalev, S., Shimamura, A., Akarsu, N. A., Tamary, H., King, M.-C.
<strong>Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.</strong>
Proc. Nat. Acad. Sci. 115: 5241-5246, 2018.
[PubMed: 29712865]
[Full Text: https://doi.org/10.1073/pnas.1801796115]
</p>
</li>
<li>
<p class="mim-text-font">
Vallon-Christersson, J., Cayanan, C., Haraldsson, K., Loman, N., Bergthorsson, J. T., Brondum-Nielsen, K., Gerdes, A.-M., Moller, P., Kristoffersson, U., Olsson, H., Borg, A., Monteiro, A. N. A.
<strong>Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.</strong>
Hum. Molec. Genet. 10: 353-360, 2001.
[PubMed: 11157798]
[Full Text: https://doi.org/10.1093/hmg/10.4.353]
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