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Entry
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- #614296 - WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL
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- OMIM
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<p>
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<span class="h4">#614296</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/614296"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23020&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK4144/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9480" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/wfs1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614296[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411590" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e6017fc8-8b53-43a0-b05a-352ec51f75f2/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080584" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/614296" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 411590<br />
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<strong>DO:</strong> 0080584<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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614296
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/4/69?start=-3&limit=10&highlight=69">
|
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4p16.1
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</a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Wolfram-like syndrome, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614296"> 614296 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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WFS1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/606201"> 606201 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614296" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/614296" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614296" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Ears </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hearing loss, sensorineural, congenital progressive (affects primarily low- and middle-frequency ranges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280365&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280365</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
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|
Glaucoma (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depression (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
|
|
Anxiety (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
|
|
Hallucinations (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br /> -
|
|
Psychosis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br /> -
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Schizophrenia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58214004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58214004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191526005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191526005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/295.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span><br /> -
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Autism (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35919005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35919005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408857007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408857007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43614003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43614003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0524528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0524528</a>, <a href="https://bioportal.bioontology.org/search?q=C0004352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000717</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000717</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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- Diabetes mellitus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br /> -
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Impaired glucose tolerance (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267426009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267426009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9414007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9414007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151671</a>, <a href="https://bioportal.bioontology.org/search?q=C0271650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040270</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the wolframin ER transmembrane glycoprotein gene (WFS1, <a href="/entry/606201#0020">606201.0020</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant Wolfram-like syndrome (WFSL), involving hearing loss with optic atrophy and/or impaired glucose regulation, is caused by heterozygous mutation in the WFS1 gene (<a href="/entry/606201">606201</a>) on chromosome 4p16.</p>
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<p>Autosomal dominant Wolfram-like syndrome (WFSL) is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by <a href="#6" class="mim-tip-reference" title="Valero, R., Bannwarth, S., Roman, S., Paquis-Flucklinger, V., Vialettes, B. <strong>Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.</strong> Diabet. Med. 25: 657-661, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18544103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18544103</a>] [<a href="https://doi.org/10.1111/j.1464-5491.2008.02448.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18544103">Valero et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18544103" 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>Wolfram syndrome (WFS1; <a href="/entry/222300">222300</a>) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene.</p><p>An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (<a href="/entry/125250">125250</a>), is caused by heterozygous mutation in the OPA1 gene (<a href="/entry/605290">605290</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. <strong>Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.</strong> J. Med. Genet. 43: 435-440, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648378">Eiberg et al. (2006)</a> reported a 3-generation Danish family in which a Wolfram syndrome (see <a href="/entry/222300">222300</a>)-like phenotype segregated in an autosomal dominant fashion. The 4 affected individuals had childhood-onset progressive hearing impairment as well as optic atrophy that began in childhood or middle age. Laboratory evaluation revealed that 3 of the 4 also had impaired glucose regulation: 1 was found to have undiagnosed diabetes, another had impaired glucose tolerance by the oral glucose tolerance test, and the third had poor pancreatic beta-cell function as evaluated by the insulinogenic index. In addition, 1 of the 4 affected individuals had anxiety and a sleeping disorder. Isolated congenital hearing impairment was found in 2 other family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Valero, R., Bannwarth, S., Roman, S., Paquis-Flucklinger, V., Vialettes, B. <strong>Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.</strong> Diabet. Med. 25: 657-661, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18544103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18544103</a>] [<a href="https://doi.org/10.1111/j.1464-5491.2008.02448.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18544103">Valero et al. (2008)</a> studied a French mother and son with hearing impairment and noninsulin-dependent diabetes mellitus (NIDDM). The index case was the 60-year-old son, who had progressive hearing impairment since childhood, requiring permanent use of a hearing aid, and was diagnosed with NIDDM at 45 years of age. Ophthalmologic examination showed no anomaly, with no optic atrophy or diabetic retinopathy, and no other manifestation classically associated with Wolfram syndrome was observed. His 81-year-old mother, who also had moderate hearing impairment since childhood, did not use a hearing aid but exhibited obvious difficulties with speech comprehension. She was found to have NIDDM at 45 years of age, and insulin was added at 60 years of age due to failure of oral agents. She also had severe visual impairment due to bilateral optic atrophy, which was discovered at age 60 years during an evaluation for diabetes follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18544103" 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="Hogewind, B. F. T., Pennings, R. J. E., Hol, F. A., Kunst, H. P. M., Hoefsloot, E. H., Cruysberg, J. R. M., Cremers, C. W. R. J. <strong>Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1.</strong> Molec. Vis. 16: 26-35, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20069065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20069065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20069065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20069065">Hogewind et al. (2010)</a> studied a Dutch family in which 2 brothers and their mother had hearing loss and optic neuropathy. No other Wolfram syndrome-related symptoms, such as diabetes mellitus, diabetes insipidus, or renal or psychiatric problems, were reported or discovered on physical examination. Specifically, diabetes mellitus was excluded by confirming normal fasting serum glucose and HbA1c in all 3 affected individuals; insulin and C-peptide were also assessed in the older brother and found to be normal. Hearing in the mother and the older brother was so diminished that they had only minimal speech recognition; the younger brother still had relatively normal maximum speech recognition scores. Ophthalmologic examination in all 3 affected individuals showed an enlarged blind spot on perimetry testing, loss of neuroretinal rim on Heidelberg retinal tomography (HRT), a deviating visual evoked potential (VEP) response, and red-green color vision defect; unaffected family members exhibited none of these findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20069065" 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="Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L. <strong>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.</strong> Am. J. Med. Genet. 155A: 1298-1313, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21538838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21538838</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21538838[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21538838">Rendtorff et al. (2011)</a> restudied the Swedish family originally reported by <a href="#5" class="mim-tip-reference" title="Samuelson, A. <strong>Familjart upptradande synnervsatrofi och dovhet.</strong> Nord. Med. 6: 769-772, 1940."None>Samuelson (1940)</a>, which they stated was the first report of isolated autosomal dominant optic atrophy and sensorineural hearing loss. Vision loss and hearing impairment was reported to have varied in severity among the 4 affected family members originally studied. The deceased proband, who had severe bilateral sensorineural hearing loss from early childhood and optic atrophy from age 9 years, also suffered from depression and hallucinations; 4 other affected family members had regular psychiatric treatment for anxiety, and 1 affected individual had committed suicide. Optic atrophy in this family presented as temporal paleness of the optic nerves, and progressed to low visual acuity after the age of 60 years; in addition, 4 of the 6 affected individuals developed glaucoma which responded well to standard treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21538838" 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>By haplotype and sequence analysis in a 3-generation Danish family segregating an autosomal dominant Wolfram syndrome-like phenotype, <a href="#2" class="mim-tip-reference" title="Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. <strong>Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.</strong> J. Med. Genet. 43: 435-440, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648378">Eiberg et al. (2006)</a> excluded linkage to the OPA4 (<a href="/entry/605293">605293</a>) and OPA5 (<a href="/entry/610708">610708</a>) loci and excluded mutations in the OPA1 (<a href="/entry/605290">605290</a>), OPA3 (<a href="/entry/606580">606580</a>), GJB2 (<a href="/entry/121011">121011</a>), and GJB6 (<a href="/entry/604418">604418</a>) genes. A positive lod score of 1.61 was obtained for chromosome 4p16.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648378" 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 WFSL in the family reported by <a href="#2" class="mim-tip-reference" title="Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. <strong>Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.</strong> J. Med. Genet. 43: 435-440, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648378">Eiberg et al. (2006)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Domenech, E., Gomez-Zaera, M., Nunes, V. <strong>WFS1 mutations in Spanish patients with diabetes mellitus and deafness.</strong> Europ. J. Hum. Genet. 10: 421-426, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107816</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200823" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12107816">Domenech et al. (2002)</a> screened the WFS1 gene (<a href="/entry/606201">606201</a>) in 23 patients with both sensorineural deafness and type 2 diabetes mellitus (T2D; <a href="/entry/125853">125853</a>) and identified 3 different heterozygous missense mutations in 3 unrelated patients, respectively, but stated that the lack of knowledge about the function of WFS1 made it difficult to explain the possible contribution of these mutations to the diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107816" 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 3-generation Danish family segregating an autosomal dominant Wolfram syndrome-like phenotype, in which affected individuals had deafness, optic atrophy, and impaired glucose regulation mapping to chromosome 4p16.3, <a href="#2" class="mim-tip-reference" title="Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. <strong>Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.</strong> J. Med. Genet. 43: 435-440, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2005.034892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648378">Eiberg et al. (2006)</a> analyzed the candidate gene WFS1 and identified a heterozygous missense mutation (E864K; <a href="/entry/606201#0020">606201.0020</a>) in affected individuals. The mutation was not found in unaffected family members or in the 2 family members who had isolated congenital hearing impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648378" 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 60-year-old French man with congenital hearing impairment and NIDDM and his 81-year-old mother with deafness, diabetes, and optic atrophy, both of whom were known to be negative for the common mtDNA mutations associated with the maternally inherited diabetes-deafness syndrome (MIDD; <a href="/entry/520000">520000</a>), <a href="#6" class="mim-tip-reference" title="Valero, R., Bannwarth, S., Roman, S., Paquis-Flucklinger, V., Vialettes, B. <strong>Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.</strong> Diabet. Med. 25: 657-661, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18544103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18544103</a>] [<a href="https://doi.org/10.1111/j.1464-5491.2008.02448.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18544103">Valero et al. (2008)</a> identified heterozygosity for the E864K mutation in the WSF1 gene. The mutation was not found in 100 French controls. The proband, who also carried an R228Q mutation in WFS1 (<a href="/entry/606201#0026">606201.0026</a>) that was not found in controls, did not have optic atrophy or any other manifestations of Wolfram syndrome. No DNA was available for study from his deceased father; an unaffected half brother did not carry either WFS1 mutation. Audiogram analysis of his apparently healthy 21-year-old son revealed bilateral mild hearing loss at high frequencies, but the son declined to participate in genetic analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18544103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Dutch family with deafness and optic neuropathy, in whom screening of the OPA1 gene (<a href="/entry/605290">605290</a>) and mtDNA screening for the 3 most frequent Leber optic atrophy (<a href="/entry/535000">535000</a>) mutations were both negative, <a href="#3" class="mim-tip-reference" title="Hogewind, B. F. T., Pennings, R. J. E., Hol, F. A., Kunst, H. P. M., Hoefsloot, E. H., Cruysberg, J. R. M., Cremers, C. W. R. J. <strong>Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1.</strong> Molec. Vis. 16: 26-35, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20069065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20069065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20069065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20069065">Hogewind et al. (2010)</a> identified heterozygosity for a missense mutation in the WSF1 gene (K836N; <a href="/entry/606201#0027">606201.0027</a>). The mutation was not found in unaffected family members or in 200 European chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20069065" 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="Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L. <strong>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.</strong> Am. J. Med. Genet. 155A: 1298-1313, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21538838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21538838</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21538838[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21538838">Rendtorff et al. (2011)</a> analyzed the WSF1 gene in 15 probands with deafness and optic atrophy who were known to be negative for mutation in the OPA1 and TIMM8A (<a href="/entry/300356">300356</a>) genes, and identified heterozygosity for the same missense mutation in the WSF1 gene (A684V; <a href="/entry/606201#0028">606201.0028</a>) in 6 probands, 1 of whom was from the Swedish family originally described by <a href="#5" class="mim-tip-reference" title="Samuelson, A. <strong>Familjart upptradande synnervsatrofi och dovhet.</strong> Nord. Med. 6: 769-772, 1940."None>Samuelson (1940)</a>. Two additional probands were heterozygous for 2 different WFS1 missense mutations, respectively (see, e.g., <a href="/entry/606201#0031">606201.0031</a>). In 7 of the 8 mutation-positive families, there were spouses with isolated sensorineural hearing loss (SNHL); analysis of the GJB2 gene (<a href="/entry/121011">121011</a>) revealed that 3 of the probands who were heterozygous for mutation in WFS1 also carried a known SNHL-related mutation in the GJB2 gene (<a href="/entry/121011#0001">121011.0001</a> or <a href="/entry/121011#0005">121011.0005</a>), inherited from a deaf parent who did not have optic atrophy. Noting that psychiatric disorders, including anxiety, depression, hallucinations, and schizophrenia, were present in affected individuals from 3 of the families with WFS1 mutations, <a href="#4" class="mim-tip-reference" title="Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L. <strong>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.</strong> Am. J. Med. Genet. 155A: 1298-1313, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21538838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21538838</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21538838[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21538838">Rendtorff et al. (2011)</a> suggested that additional abnormalities might also be present in other families with Wolfram-like syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21538838" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hogewind, B. F. T., Pennings, R. J. E., Hol, F. A., Kunst, H. P. M., Hoefsloot, E. H., Cruysberg, J. R. M., Cremers, C. W. R. J.
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<strong>Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1.</strong>
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Molec. Vis. 16: 26-35, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20069065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20069065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20069065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20069065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Rendtorff2011" class="mim-anchor"></a>
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Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L.
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<strong>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.</strong>
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Am. J. Med. Genet. 155A: 1298-1313, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21538838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21538838</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21538838[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21538838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33970" target="_blank">Full Text</a>]
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<a id="Samuelson1940" class="mim-anchor"></a>
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Samuelson, A.
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<strong>Familjart upptradande synnervsatrofi och dovhet.</strong>
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Nord. Med. 6: 769-772, 1940.
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Valero, R., Bannwarth, S., Roman, S., Paquis-Flucklinger, V., Vialettes, B.
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<strong>Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.</strong>
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Diabet. Med. 25: 657-661, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18544103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18544103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18544103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1464-5491.2008.02448.x" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 10/19/2011
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carol : 03/06/2024
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carol : 03/05/2024<br>carol : 05/24/2016<br>carol : 12/3/2014<br>carol : 10/19/2011<br>carol : 10/19/2011
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<strong>#</strong> 614296
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WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL
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HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
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<strong>ORPHA:</strong> 411590;
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<strong>DO:</strong> 0080584;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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4p16.1
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Wolfram-like syndrome, autosomal dominant
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614296
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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WFS1
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606201
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant Wolfram-like syndrome (WFSL), involving hearing loss with optic atrophy and/or impaired glucose regulation, is caused by heterozygous mutation in the WFS1 gene (606201) on chromosome 4p16.</p>
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<strong>Description</strong>
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<p>Autosomal dominant Wolfram-like syndrome (WFSL) is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008). </p><p>Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene.</p><p>An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290).</p>
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<p>Eiberg et al. (2006) reported a 3-generation Danish family in which a Wolfram syndrome (see 222300)-like phenotype segregated in an autosomal dominant fashion. The 4 affected individuals had childhood-onset progressive hearing impairment as well as optic atrophy that began in childhood or middle age. Laboratory evaluation revealed that 3 of the 4 also had impaired glucose regulation: 1 was found to have undiagnosed diabetes, another had impaired glucose tolerance by the oral glucose tolerance test, and the third had poor pancreatic beta-cell function as evaluated by the insulinogenic index. In addition, 1 of the 4 affected individuals had anxiety and a sleeping disorder. Isolated congenital hearing impairment was found in 2 other family members. </p><p>Valero et al. (2008) studied a French mother and son with hearing impairment and noninsulin-dependent diabetes mellitus (NIDDM). The index case was the 60-year-old son, who had progressive hearing impairment since childhood, requiring permanent use of a hearing aid, and was diagnosed with NIDDM at 45 years of age. Ophthalmologic examination showed no anomaly, with no optic atrophy or diabetic retinopathy, and no other manifestation classically associated with Wolfram syndrome was observed. His 81-year-old mother, who also had moderate hearing impairment since childhood, did not use a hearing aid but exhibited obvious difficulties with speech comprehension. She was found to have NIDDM at 45 years of age, and insulin was added at 60 years of age due to failure of oral agents. She also had severe visual impairment due to bilateral optic atrophy, which was discovered at age 60 years during an evaluation for diabetes follow-up. </p><p>Hogewind et al. (2010) studied a Dutch family in which 2 brothers and their mother had hearing loss and optic neuropathy. No other Wolfram syndrome-related symptoms, such as diabetes mellitus, diabetes insipidus, or renal or psychiatric problems, were reported or discovered on physical examination. Specifically, diabetes mellitus was excluded by confirming normal fasting serum glucose and HbA1c in all 3 affected individuals; insulin and C-peptide were also assessed in the older brother and found to be normal. Hearing in the mother and the older brother was so diminished that they had only minimal speech recognition; the younger brother still had relatively normal maximum speech recognition scores. Ophthalmologic examination in all 3 affected individuals showed an enlarged blind spot on perimetry testing, loss of neuroretinal rim on Heidelberg retinal tomography (HRT), a deviating visual evoked potential (VEP) response, and red-green color vision defect; unaffected family members exhibited none of these findings. </p><p>Rendtorff et al. (2011) restudied the Swedish family originally reported by Samuelson (1940), which they stated was the first report of isolated autosomal dominant optic atrophy and sensorineural hearing loss. Vision loss and hearing impairment was reported to have varied in severity among the 4 affected family members originally studied. The deceased proband, who had severe bilateral sensorineural hearing loss from early childhood and optic atrophy from age 9 years, also suffered from depression and hallucinations; 4 other affected family members had regular psychiatric treatment for anxiety, and 1 affected individual had committed suicide. Optic atrophy in this family presented as temporal paleness of the optic nerves, and progressed to low visual acuity after the age of 60 years; in addition, 4 of the 6 affected individuals developed glaucoma which responded well to standard treatment. </p>
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<strong>Mapping</strong>
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<p>By haplotype and sequence analysis in a 3-generation Danish family segregating an autosomal dominant Wolfram syndrome-like phenotype, Eiberg et al. (2006) excluded linkage to the OPA4 (605293) and OPA5 (610708) loci and excluded mutations in the OPA1 (605290), OPA3 (606580), GJB2 (121011), and GJB6 (604418) genes. A positive lod score of 1.61 was obtained for chromosome 4p16.3. </p>
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<p>The transmission pattern of WFSL in the family reported by Eiberg et al. (2006) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Domenech et al. (2002) screened the WFS1 gene (606201) in 23 patients with both sensorineural deafness and type 2 diabetes mellitus (T2D; 125853) and identified 3 different heterozygous missense mutations in 3 unrelated patients, respectively, but stated that the lack of knowledge about the function of WFS1 made it difficult to explain the possible contribution of these mutations to the diseases. </p><p>In a 3-generation Danish family segregating an autosomal dominant Wolfram syndrome-like phenotype, in which affected individuals had deafness, optic atrophy, and impaired glucose regulation mapping to chromosome 4p16.3, Eiberg et al. (2006) analyzed the candidate gene WFS1 and identified a heterozygous missense mutation (E864K; 606201.0020) in affected individuals. The mutation was not found in unaffected family members or in the 2 family members who had isolated congenital hearing impairment. </p><p>In a 60-year-old French man with congenital hearing impairment and NIDDM and his 81-year-old mother with deafness, diabetes, and optic atrophy, both of whom were known to be negative for the common mtDNA mutations associated with the maternally inherited diabetes-deafness syndrome (MIDD; 520000), Valero et al. (2008) identified heterozygosity for the E864K mutation in the WSF1 gene. The mutation was not found in 100 French controls. The proband, who also carried an R228Q mutation in WFS1 (606201.0026) that was not found in controls, did not have optic atrophy or any other manifestations of Wolfram syndrome. No DNA was available for study from his deceased father; an unaffected half brother did not carry either WFS1 mutation. Audiogram analysis of his apparently healthy 21-year-old son revealed bilateral mild hearing loss at high frequencies, but the son declined to participate in genetic analysis. </p><p>In affected members of a Dutch family with deafness and optic neuropathy, in whom screening of the OPA1 gene (605290) and mtDNA screening for the 3 most frequent Leber optic atrophy (535000) mutations were both negative, Hogewind et al. (2010) identified heterozygosity for a missense mutation in the WSF1 gene (K836N; 606201.0027). The mutation was not found in unaffected family members or in 200 European chromosomes. </p><p>Rendtorff et al. (2011) analyzed the WSF1 gene in 15 probands with deafness and optic atrophy who were known to be negative for mutation in the OPA1 and TIMM8A (300356) genes, and identified heterozygosity for the same missense mutation in the WSF1 gene (A684V; 606201.0028) in 6 probands, 1 of whom was from the Swedish family originally described by Samuelson (1940). Two additional probands were heterozygous for 2 different WFS1 missense mutations, respectively (see, e.g., 606201.0031). In 7 of the 8 mutation-positive families, there were spouses with isolated sensorineural hearing loss (SNHL); analysis of the GJB2 gene (121011) revealed that 3 of the probands who were heterozygous for mutation in WFS1 also carried a known SNHL-related mutation in the GJB2 gene (121011.0001 or 121011.0005), inherited from a deaf parent who did not have optic atrophy. Noting that psychiatric disorders, including anxiety, depression, hallucinations, and schizophrenia, were present in affected individuals from 3 of the families with WFS1 mutations, Rendtorff et al. (2011) suggested that additional abnormalities might also be present in other families with Wolfram-like syndrome. </p>
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<strong>REFERENCES</strong>
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Domenech, E., Gomez-Zaera, M., Nunes, V.
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<strong>WFS1 mutations in Spanish patients with diabetes mellitus and deafness.</strong>
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Europ. J. Hum. Genet. 10: 421-426, 2002.
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[PubMed: 12107816]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200823]
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Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L.
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<strong>Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.</strong>
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J. Med. Genet. 43: 435-440, 2006.
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[PubMed: 16648378]
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[Full Text: https://doi.org/10.1136/jmg.2005.034892]
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Hogewind, B. F. T., Pennings, R. J. E., Hol, F. A., Kunst, H. P. M., Hoefsloot, E. H., Cruysberg, J. R. M., Cremers, C. W. R. J.
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<strong>Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1.</strong>
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Molec. Vis. 16: 26-35, 2010.
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[PubMed: 20069065]
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<li>
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Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L.
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<strong>Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.</strong>
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Am. J. Med. Genet. 155A: 1298-1313, 2011.
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[PubMed: 21538838]
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[Full Text: https://doi.org/10.1002/ajmg.a.33970]
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<li>
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Samuelson, A.
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<strong>Familjart upptradande synnervsatrofi och dovhet.</strong>
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Nord. Med. 6: 769-772, 1940.
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Valero, R., Bannwarth, S., Roman, S., Paquis-Flucklinger, V., Vialettes, B.
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<strong>Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.</strong>
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[PubMed: 18544103]
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[Full Text: https://doi.org/10.1111/j.1464-5491.2008.02448.x]
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