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Entry
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- #266900 - SENIOR-LOKEN SYNDROME 1; SLSN1
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- OMIM
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<span class="h4">#266900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/266900"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS266900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(SENIOR-LOKEN SYNDROME) OR (NPHP1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2824&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9640" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=266900[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=3156" 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/8330c8a5-508d-4778-84e1-b9c2a27cd4c9/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 style="display: table-cell;">Animal Models</div>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050576" 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/266900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050576" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 236531005<br />
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<strong>ORPHA:</strong> 3156<br />
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<strong>DO:</strong> 0050576<br />
|
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
|
266900
|
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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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SENIOR-LOKEN SYNDROME 1; SLSN1
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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>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SENIOR-LOKEN SYNDROME<br />
|
|
LOKEN-SENIOR SYNDROME<br />
|
|
RENAL-RETINAL SYNDROME<br />
|
|
JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS<br />
|
|
RENAL DYSPLASIA AND RETINAL APLASIA
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
|
</div>
|
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|
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|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/555?start=-3&limit=10&highlight=555">
|
|
2q13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Senior-Loken syndrome-1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266900"> 266900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NPHP1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607100"> 607100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/266900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS266900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/266900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/266900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tapetoretinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br /> -
|
|
Flat electroretinogram (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678401</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Juvenile nephronophthisis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444830001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444830001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855681</a>, <a href="https://bioportal.bioontology.org/search?q=C0687120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008659</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000090</a>]</span><br /> -
|
|
End stage renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br /> -
|
|
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Polyuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56574000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56574000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28442001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28442001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718402002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718402002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R35.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R35.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000103</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000103</a>]</span><br /> -
|
|
Polydipsia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17173007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17173007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/139104001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">139104001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085602</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001959" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001959</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001959" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001959</a>]</span><br />
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|
</span>
|
|
</div>
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|
</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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|
</div>
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the nephrocystin gene (NPHP1, <a href="/entry/607100#0005">607100.0005</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Senior-Loken syndrome
|
|
- <a href="/phenotypicSeries/PS266900">PS266900</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/88?start=-3&limit=10&highlight=88"> 1p36.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606996"> Senior-Loken syndrome 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606996"> 606996 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607215"> NPHP4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607215"> 607215 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1844?start=-3&limit=10&highlight=1844"> 1q43-q44 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613615"> Senior-Loken syndrome 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613615"> 613615 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613524"> SDCCAG8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613524"> 613524 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/555?start=-3&limit=10&highlight=555"> 2q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266900"> Senior-Loken syndrome-1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266900"> 266900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607100"> NPHP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607100"> 607100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1163?start=-3&limit=10&highlight=1163"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616629"> Senior-Loken syndrome 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616629"> 616629 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607380"> TRAF3IP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607380"> 607380 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/594?start=-3&limit=10&highlight=594"> 3q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609254"> Senior-Loken syndrome 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609254"> 609254 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609237"> IQCB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609237"> 609237 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/669?start=-3&limit=10&highlight=669"> 3q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606995"> Senior-Loken syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606995"> 606995 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606995"> SLSN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606995"> 606995 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/157?start=-3&limit=10&highlight=157"> 4p14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616307"> Senior-Loken syndrome 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616307"> 616307 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608151"> WDR19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608151"> 608151 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/664?start=-3&limit=10&highlight=664"> 12q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610189"> Senior-Loken syndrome 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610189"> 610189 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610142"> CEP290 </a>
|
|
</span>
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<a href="/entry/610142"> 610142 </a>
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<p>A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-1 (SLSN1) is caused by homozygous mutation in the NPHP1 gene (<a href="/entry/607100">607100</a>) on chromosome 2q13.</p>
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<p>Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see <a href="/entry/256100">256100</a>) and Leber congenital amaurosis (see <a href="/entry/204000">204000</a>). Mutations in some of the same genes that cause nephronophthisis (see <a href="/entry/256100">256100</a>) cause Senior-Loken syndrome.</p><p><strong><em>Genetic Heterogeneity of Senior-Loken Syndrome</em></strong></p><p>
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Other forms of SLSN include SLSN4 (<a href="/entry/606996">606996</a>), caused by mutation in the NPHP4 gene (<a href="/entry/607215">607215</a>) on chromosome 1p36; SLSN5 (<a href="/entry/609254">609254</a>), caused by mutation in the NPHP5 gene (IQCB1; <a href="/entry/609237">609237</a>) on chromosome 3q13; SLSN6 (<a href="/entry/610189">610189</a>), caused by mutation in the NPHP6 gene (CEP290; <a href="/entry/610142">610142</a>) on chromosome 12q21; SLSN7 (<a href="/entry/613615">613615</a>), caused by mutation in the SDCCAG8 gene (<a href="/entry/613524">613524</a>) on chromosome 1q43; SLSN8 (<a href="/entry/616307">616307</a>), caused by mutation in the WDR19 gene (<a href="/entry/608151">608151</a>) on chromosome 4p14; and SLSN9 (<a href="/entry/616629">616629</a>), caused by mutation in the TRAF3IP1 gene (<a href="/entry/607380">607380</a>) on chromosome 2q37.</p><p>Another form of SLSN, SLSN3 (<a href="/entry/606995">606995</a>), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (<a href="/entry/604387">604387</a>).</p>
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<p>The symbols used for the first 3 identified forms of Senior-Loken syndrome were correlated with the original symbols used for proteins mutated in various forms of nephronophthisis (NPHP1-NPHP4). Because no form of SLSN had been found to be associated with the NPHP2 gene (now symbolized INVS, <a href="/entry/243305">243305</a>), which is mutant in NPHP2 (<a href="/entry/602088">602088</a>), the symbol SLSN2 was left out of the series.</p>
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<p><a href="#16" class="mim-tip-reference" title="Loken, A. C., Hanssen, O., Halvorsen, S., Jolster, N. J. <strong>Hereditary renal dysplasia and blindness.</strong> Acta Paediat. (Stockh.) 50: 177-184, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13763238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13763238</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1961.tb08037.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13763238">Loken et al. (1961)</a> reported brother and sister with the main features of nephronophthisis and Leber congenital amaurosis. In the sister, renal dysplasia was proved at autopsy. <a href="#26" class="mim-tip-reference" title="Senior, B., Friedmann, A. I., Braudo, J. L. <strong>Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy.</strong> Am. J. Ophthal. 52: 625-633, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13910672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13910672</a>] [<a href="https://doi.org/10.1016/0002-9394(61)90147-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13910672">Senior et al. (1961)</a> and <a href="#10" class="mim-tip-reference" title="Fairley, K. F., Leighton, P. W., Kincaid-Smith, P. <strong>Familial visual defects associated with polycystic kidney and medullary sponge kidney.</strong> Brit. Med. J. 1: 1060-1063, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20789756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20789756</a>] [<a href="https://doi.org/10.1136/bmj.1.5337.1060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20789756">Fairley et al. (1963)</a> also reported families with an oculorenal syndrome. In the former family the renal changes resembled those in Fanconi familial juvenile nephronophthisis (<a href="/entry/256100">256100</a>). In the latter family the renal change was similar to that in polycystic kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20789756+13763238+13910672" 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 an Amish isolate, <a href="#23" class="mim-tip-reference" title="Schimke, R. N. <strong>Hereditary renal-retinal dysplasia.</strong> Ann. Intern. Med. 70: 735-744, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5771531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5771531</a>] [<a href="https://doi.org/10.7326/0003-4819-70-4-735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5771531">Schimke (1969)</a> found 2 cousins with vasopressin-resistant diabetes insipidus, progressive azotemia, and retinitis pigmentosa. A more remotely related person may also have been affected. Despite some histologic similarities to juvenile nephronophthisis and to medullary cystic disease, <a href="#23" class="mim-tip-reference" title="Schimke, R. N. <strong>Hereditary renal-retinal dysplasia.</strong> Ann. Intern. Med. 70: 735-744, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5771531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5771531</a>] [<a href="https://doi.org/10.7326/0003-4819-70-4-735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5771531">Schimke (1969)</a> concluded that the total clinicogenetic picture supported the view that this is a distinct entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5771531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Dekaban, A. S. <strong>Familial occurrence of congenital retinal blindness and developmental retinal lesions.</strong> J. Genet. Hum. 17: 289-296, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5387411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5387411</a>]" pmid="5387411">Dekaban (1969)</a> described 2 brothers with congenital retinal blindness and a developmental renal abnormality leading to uremia. Autopsy was performed in 1 of the patients who died at age 10 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5387411" 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>The heterogeneity of the renal-retinal syndrome is indicated by the variable age of onset of the retinal abnormality. In some families it is congenital, whereas in others it behaves like isolated recessive retinitis pigmentosa. In connection with the longstanding association claimed between juvenile nephronophthisis, bone dysplasia, and retinitis pigmentosa, <a href="#17" class="mim-tip-reference" title="Mendley, S. R., Poznanski, A. K., Spargo, B. H., Langman, C. B. <strong>Hereditary sclerosing glomerulopathy in the conorenal syndrome.</strong> Am. J. Kidney Dis. 25: 792-797, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747734</a>] [<a href="https://doi.org/10.1016/0272-6386(95)90556-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747734">Mendley et al. (1995)</a> expressed doubts concerning the rigor with which the renal diagnoses has been made in some patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Hogewind, B. L., Veltkamp, J. J., Polak, B. C. P., van Es, L. A. <strong>Electro-retinal abnormalities in heterozygotes of renal-retinal dysplasia.</strong> Acta Med. Scand. 202: 323-326, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/920253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">920253</a>] [<a href="https://doi.org/10.1111/j.0954-6820.1977.tb16836.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="920253">Hogewind et al. (1977)</a> found asymptomatic electroretinographic changes in some obligatory heterozygotes for renal-retinal dysplasia. <a href="#9" class="mim-tip-reference" title="Diekmann, L., Louis, C., Schulte-Kemna, E. <strong>Familiaere Nephropathie mit Retinitis pigmentosa und peripherer Dysostose.</strong> Helv. Paediat. Acta 32: 375-382, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/617982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">617982</a>]" pmid="617982">Diekmann et al. (1977)</a> described retinitis pigmentosa and nephronophthisis in 2 young sisters, one of whom died at age 7 years. <a href="#3" class="mim-tip-reference" title="Boichis, H., Passwell, J., David, R., Miller, H. <strong>Congenital hepatic fibrosis and nephronophthisis: a family study.</strong> Quart. J. Med. 42: 221-233, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13804544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13804544</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1960.tb07761.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13804544">Boichis et al. (1973)</a>, <a href="#21" class="mim-tip-reference" title="Proesmans, W., Van Damme, B., Macken, J. <strong>Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.</strong> Clin. Nephrol. 3: 160-164, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1149338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1149338</a>]" pmid="1149338">Proesmans et al. (1975)</a>, and <a href="#8" class="mim-tip-reference" title="Delaney, V., Mullaney, J., Bourke, E. <strong>Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.</strong> Quart. J. Med. 47: 281-290, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/568809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">568809</a>]" pmid="568809">Delaney et al. (1978)</a> described the triad of nephronophthisis, retinal degeneration or hypoplasia, and congenital hepatic fibrosis. Whether this is a separate entity is not clear. <a href="#12" class="mim-tip-reference" title="Godel, V., Iaina, A., Nemet, P., Lazar, M. <strong>Retinal manifestations in familial juvenile nephronophthisis.</strong> Clin. Genet. 16: 277-281, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/519897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">519897</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01000.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="519897">Godel et al. (1979)</a> reviewed the retinopathy in 3 families and emphasized its variability: congenital Leber amaurosis, retinitis pigmentosa, and sector retinitis pigmentosa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13804544+519897+568809+920253+617982+1149338" 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="Clarke, M. P., Sullivan, T. J., Francis, C., Baumal, R., Fenton, T., Pearce, W. G. <strong>Senior-Loken syndrome: case report of two siblings and association with sensorineural deafness.</strong> Brit. J. Ophthal. 76: 171-172, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1540564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1540564</a>] [<a href="https://doi.org/10.1136/bjo.76.3.171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1540564">Clarke et al. (1992)</a> described a brother and sister, the products of a first-cousin marriage between parents of Asiatic Indian origin, who had nephronophthisis and retinal dystrophy associated with moderately severe sensorineural hearing loss bilaterally. Deafness had not previously been reported with the Senior-Loken syndrome; <a href="#6" class="mim-tip-reference" title="Clarke, M. P., Sullivan, T. J., Francis, C., Baumal, R., Fenton, T., Pearce, W. G. <strong>Senior-Loken syndrome: case report of two siblings and association with sensorineural deafness.</strong> Brit. J. Ophthal. 76: 171-172, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1540564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1540564</a>] [<a href="https://doi.org/10.1136/bjo.76.3.171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1540564">Clarke et al. (1992)</a> suggested that this 'may represent a genetically linked condition.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1540564" 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="#27" class="mim-tip-reference" title="Warady, B. A., Cibis, G., Alon, U., Blowey, D., Hellerstein, S. <strong>Senior-Loken syndrome: revisited.</strong> Pediatrics 94: 111-112, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8008515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8008515</a>]" pmid="8008515">Warady et al. (1994)</a> reported 2 sporadic cases: a girl in whom the diagnosis of Leber amaurosis had been made at 3 months of age, who had polyuria and polydipsia from the age of 4 years and who was found to have end-stage renal disease at age 11; and a 5.5-year-old boy with Dandy-Walker syndrome, Leber amaurosis, and mental retardation as well as longstanding polyuria and polydipsia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8008515" 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 prevalence of nephronophthisis is estimated to be 1 in 100,000, with 1 in 10 affected individuals having retinal dysfunction, constituting Senior-Loken syndrome (summary by <a href="#19" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Caridi, G., Murer, L., Bellantuono, R., Sorino, P., Caringella, D. A., Gusmano, R., Ghiggeri, G. M. <strong>Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.</strong> Am. J. Kidney Dis. 32: 1059-1062, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856524</a>] [<a href="https://doi.org/10.1016/s0272-6386(98)70083-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856524">Caridi et al. (1998)</a> described Senior-Loken syndrome (SLSN1) in patients with homozygous deletion (<a href="/entry/607100#0005">607100.0005</a>) of the NPHP1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modifier Genes</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others. <strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (Letter)</strong> Nature Genet. 41: 739-745, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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/10.1038/ng.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19430481">Khanna et al. (2009)</a> presented evidence that a common allele in the RPGRIP1L gene (A229T; <a href="/entry/610937#0013">610937.0013</a>) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations, including SLSN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19430481" 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="Antignac, C., Arduy, C. H., Beckmann, J. S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.-L., Kleinknecht, C., Broyer, M., Weissenbach, J., Habib, R., Cohen, D. <strong>A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.</strong> Nature Genet. 3: 342-345, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981755</a>] [<a href="https://doi.org/10.1038/ng0493-342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981755">Antignac et al. (1993)</a> demonstrated linkage of nephronophthisis to a region on chromosome 2p (NPHP1; <a href="/entry/256100">256100</a>) but excluded linkage of Senior-Loken syndrome from this region. They suggested that there may be genetic heterogeneity between nephronophthisis and Senior-Loken syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Omran, H., Sasmaz, G., Haffner, K., Volz, A., Olbrich, H., Melkaoui, R., Otto, E., Wienker, T. F., Korinthenberg, R., Brandis, M., Antignac, C., Hildebrandt, F. <strong>Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.</strong> J. Am. Soc. Nephrol. 13: 75-79, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752023</a>] [<a href="https://doi.org/10.1681/ASN.V13175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11752023">Omran et al. (2002)</a> identified a gene locus for Senior-Loken syndrome on chromosome 3q21-q22 (SLSN3; <a href="/entry/606995">606995</a>), in the region of the NPHP3 locus (<a href="/entry/604387">604387</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11752023" 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="#24" class="mim-tip-reference" title="Schuermann, M. J., Otto, E., Becker, A., Saar, K., Ruschendorf, F., Polak, B. C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nurnberg, P., Hildebrandt, F. <strong>Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.</strong> Am. J. Hum. Genet. 70: 1240-1246, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11920287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11920287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11920287[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/10.1086/340317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11920287">Schuermann et al. (2002)</a> identified a Senior-Loken syndrome locus on 1p36.31 (SLSN4; <a href="/entry/606996">606996</a>), overlapping the NPHP4 locus (<a href="/entry/606996">606996</a>). In patients with Senior-Loken syndrome mapping to chromosome 1p36, <a href="#20" class="mim-tip-reference" title="Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhager, R., Sudbrak, R., Hennies, H. C., Nurnberg, P., Hildebrandt, F. <strong>A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.</strong> Am. J. Hum. Genet. 71: 1161-1167, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1489 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12205563[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/10.1086/344395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12205563">Otto et al. (2002)</a> identified mutations in the NPHP4 gene (<a href="/entry/607215">607215</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11920287+12205563" 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="#19" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> refined the critical genetic region for SLSN5 to an 8.7-Mb interval containing the IQCB1 gene on chromosome 3q21.1. They identified 8 different mutations in the IQCB1 gene in patients with SLSN (e.g., <a href="/entry/609237#0001">609237.0001</a>). All individuals with IQCB1 mutations had retinitis pigmentosa, and <a href="#19" class="mim-tip-reference" title="Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others. <strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong> Nature Genet. 37: 282-288, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>] [<a href="https://doi.org/10.1038/ng1520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15723066">Otto et al. (2005)</a> concluded that mutation in IQCB1 is the most frequent cause of SLSN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Avasthi1976" class="mim-tip-reference" title="Avasthi, P. S., Erickson, D. G., Gardner, K. D. <strong>Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.</strong> Ann. Intern. Med. 84: 157-161, 1976.">Avasthi et al. (1976)</a>; <a href="#Bois1970" class="mim-tip-reference" title="Bois, E., Royer, P. <strong>Association de nephropathie tubulo-interstitielle chronique et de degenerescence tapeto-retinienne. Etude genetique.</strong> Arch. Franc. Pediat. 27: 471-481, 1970.">Bois and Royer (1970)</a>; <a href="#Fontaine1970" class="mim-tip-reference" title="Fontaine, J. L., Boulesteix, J., Saraux, H., Lasfargues, G., Grenet, P., Ghiem Minh Dung, N., Dhermy, P., Roy, C., Laplane, R. <strong>Nephropathie tubulo-interstitielle de l'enfant avec degenerescence tapeto-retinienne (syndrome de Senior). A propos d'une observation.</strong> Arch. Franc. Pediat. 27: 459-470, 1970.">Fontaine et al. (1970)</a>; <a href="#Keeler1924" class="mim-tip-reference" title="Keeler, C. E. <strong>The inheritance of a retinal abnormality in white mice.</strong> Proc. Nat. Acad. Sci. 10: 329-333, 1924.">Keeler (1924)</a>; <a href="#Saraux1970" class="mim-tip-reference" title="Saraux, H., Dhermy, P., Fontaine, J. L., Boulesteix, J., Lasfargues, S. G., Grenet, P., N'Gheim, M., Laplane, R. <strong>La degenerescence retino-tubulaire de Senior et Loken.</strong> Arch. Ophtal. Rev. Gen. Ophtal. 30: 683-696, 1970.">Saraux et al. (1970)</a>; <a href="#Schuman1985" class="mim-tip-reference" title="Schuman, J. S., Lieberman, K. V., Friedman, A. H., Berger, M., Schoeneman, M. J. <strong>Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.</strong> Am. J. Ophthal. 100: 822-827, 1985.">Schuman et al. (1985)</a>
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Antignac, C., Arduy, C. H., Beckmann, J. S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.-L., Kleinknecht, C., Broyer, M., Weissenbach, J., Habib, R., Cohen, D.
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<strong>A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.</strong>
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Nature Genet. 3: 342-345, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0493-342" target="_blank">Full Text</a>]
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Avasthi, P. S., Erickson, D. G., Gardner, K. D.
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<strong>Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.</strong>
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Ann. Intern. Med. 84: 157-161, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/766680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">766680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=766680" 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/10.7326/0003-4819-84-2-157" target="_blank">Full Text</a>]
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Boichis, H., Passwell, J., David, R., Miller, H.
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<strong>Congenital hepatic fibrosis and nephronophthisis: a family study.</strong>
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Quart. J. Med. 42: 221-233, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13804544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13804544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13804544" 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.1651-2227.1960.tb07761.x" target="_blank">Full Text</a>]
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Bois, E., Royer, P.
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<strong>Association de nephropathie tubulo-interstitielle chronique et de degenerescence tapeto-retinienne. Etude genetique.</strong>
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Arch. Franc. Pediat. 27: 471-481, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5425823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5425823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5425823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Caridi, G., Murer, L., Bellantuono, R., Sorino, P., Caringella, D. A., Gusmano, R., Ghiggeri, G. M.
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<strong>Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.</strong>
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Am. J. Kidney Dis. 32: 1059-1062, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0272-6386(98)70083-6" target="_blank">Full Text</a>]
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Clarke, M. P., Sullivan, T. J., Francis, C., Baumal, R., Fenton, T., Pearce, W. G.
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<strong>Senior-Loken syndrome: case report of two siblings and association with sensorineural deafness.</strong>
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Brit. J. Ophthal. 76: 171-172, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1540564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1540564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1540564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.76.3.171" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Dekaban1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dekaban, A. S.
|
|
<strong>Familial occurrence of congenital retinal blindness and developmental retinal lesions.</strong>
|
|
J. Genet. Hum. 17: 289-296, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5387411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5387411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5387411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Delaney1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Delaney, V., Mullaney, J., Bourke, E.
|
|
<strong>Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.</strong>
|
|
Quart. J. Med. 47: 281-290, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/568809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">568809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=568809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Diekmann1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Diekmann, L., Louis, C., Schulte-Kemna, E.
|
|
<strong>Familiaere Nephropathie mit Retinitis pigmentosa und peripherer Dysostose.</strong>
|
|
Helv. Paediat. Acta 32: 375-382, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/617982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">617982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=617982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Fairley1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fairley, K. F., Leighton, P. W., Kincaid-Smith, P.
|
|
<strong>Familial visual defects associated with polycystic kidney and medullary sponge kidney.</strong>
|
|
Brit. Med. J. 1: 1060-1063, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20789756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20789756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20789756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bmj.1.5337.1060" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Fontaine1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fontaine, J. L., Boulesteix, J., Saraux, H., Lasfargues, G., Grenet, P., Ghiem Minh Dung, N., Dhermy, P., Roy, C., Laplane, R.
|
|
<strong>Nephropathie tubulo-interstitielle de l'enfant avec degenerescence tapeto-retinienne (syndrome de Senior). A propos d'une observation.</strong>
|
|
Arch. Franc. Pediat. 27: 459-470, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5425822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5425822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5425822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Godel1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Godel, V., Iaina, A., Nemet, P., Lazar, M.
|
|
<strong>Retinal manifestations in familial juvenile nephronophthisis.</strong>
|
|
Clin. Genet. 16: 277-281, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/519897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">519897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=519897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01000.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Hogewind1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hogewind, B. L., Veltkamp, J. J., Polak, B. C. P., van Es, L. A.
|
|
<strong>Electro-retinal abnormalities in heterozygotes of renal-retinal dysplasia.</strong>
|
|
Acta Med. Scand. 202: 323-326, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/920253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">920253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=920253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.0954-6820.1977.tb16836.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Keeler1924" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Keeler, C. E.
|
|
<strong>The inheritance of a retinal abnormality in white mice.</strong>
|
|
Proc. Nat. Acad. Sci. 10: 329-333, 1924.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16576828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16576828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16576828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.10.7.329" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Khanna2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
|
|
<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (Letter)</strong>
|
|
Nature Genet. 41: 739-745, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19430481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19430481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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=19430481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.366" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Loken1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loken, A. C., Hanssen, O., Halvorsen, S., Jolster, N. J.
|
|
<strong>Hereditary renal dysplasia and blindness.</strong>
|
|
Acta Paediat. (Stockh.) 50: 177-184, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13763238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13763238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13763238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1651-2227.1961.tb08037.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Mendley1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mendley, S. R., Poznanski, A. K., Spargo, B. H., Langman, C. B.
|
|
<strong>Hereditary sclerosing glomerulopathy in the conorenal syndrome.</strong>
|
|
Am. J. Kidney Dis. 25: 792-797, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0272-6386(95)90556-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Omran2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Omran, H., Sasmaz, G., Haffner, K., Volz, A., Olbrich, H., Melkaoui, R., Otto, E., Wienker, T. F., Korinthenberg, R., Brandis, M., Antignac, C., Hildebrandt, F.
|
|
<strong>Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.</strong>
|
|
J. Am. Soc. Nephrol. 13: 75-79, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11752023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11752023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11752023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1681/ASN.V13175" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Otto2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others.
|
|
<strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong>
|
|
Nature Genet. 37: 282-288, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15723066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15723066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15723066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1520" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Otto2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhager, R., Sudbrak, R., Hennies, H. C., Nurnberg, P., Hildebrandt, F.
|
|
<strong>A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.</strong>
|
|
Am. J. Hum. Genet. 71: 1161-1167, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1489 only, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205563</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12205563[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=12205563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/344395" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Proesmans1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Proesmans, W., Van Damme, B., Macken, J.
|
|
<strong>Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.</strong>
|
|
Clin. Nephrol. 3: 160-164, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1149338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1149338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1149338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Saraux1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saraux, H., Dhermy, P., Fontaine, J. L., Boulesteix, J., Lasfargues, S. G., Grenet, P., N'Gheim, M., Laplane, R.
|
|
<strong>La degenerescence retino-tubulaire de Senior et Loken.</strong>
|
|
Arch. Ophtal. Rev. Gen. Ophtal. 30: 683-696, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4099092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4099092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4099092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Schimke1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schimke, R. N.
|
|
<strong>Hereditary renal-retinal dysplasia.</strong>
|
|
Ann. Intern. Med. 70: 735-744, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5771531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5771531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5771531" 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/10.7326/0003-4819-70-4-735" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Schuermann2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuermann, M. J., Otto, E., Becker, A., Saar, K., Ruschendorf, F., Polak, B. C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nurnberg, P., Hildebrandt, F.
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<strong>Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.</strong>
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Am. J. Hum. Genet. 70: 1240-1246, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11920287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11920287</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11920287[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=11920287" 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/10.1086/340317" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Schuman1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuman, J. S., Lieberman, K. V., Friedman, A. H., Berger, M., Schoeneman, M. J.
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<strong>Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.</strong>
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Am. J. Ophthal. 100: 822-827, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4073180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4073180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4073180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0002-9394(14)73374-4" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Senior1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Senior, B., Friedmann, A. I., Braudo, J. L.
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<strong>Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy.</strong>
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Am. J. Ophthal. 52: 625-633, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13910672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13910672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13910672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9394(61)90147-7" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Warady1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warady, B. A., Cibis, G., Alon, U., Blowey, D., Hellerstein, S.
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<strong>Senior-Loken syndrome: revisited.</strong>
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Pediatrics 94: 111-112, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8008515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8008515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8008515" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/1/2010
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/15/2009<br>Victor A. McKusick - updated : 3/11/2005<br>Victor A. McKusick - updated : 5/17/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/08/2024
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<span class="mim-text-font">
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carol : 04/05/2024<br>carol : 01/17/2018<br>carol : 06/21/2016<br>alopez : 11/4/2015<br>ckniffin : 11/2/2015<br>carol : 6/7/2012<br>carol : 6/7/2012<br>ckniffin : 6/6/2012<br>alopez : 3/7/2012<br>carol : 1/18/2012<br>alopez : 11/3/2010<br>ckniffin : 10/29/2010<br>ckniffin : 10/5/2010<br>alopez : 3/16/2010<br>carol : 3/4/2010<br>carol : 3/4/2010<br>carol : 3/3/2010<br>carol : 3/1/2010<br>terry : 12/17/2009<br>wwang : 6/18/2009<br>ckniffin : 6/15/2009<br>alopez : 6/14/2006<br>mgross : 3/11/2005<br>mgross : 3/11/2005<br>cwells : 11/6/2003<br>carol : 12/26/2002<br>alopez : 6/10/2002<br>alopez : 6/10/2002<br>terry : 5/17/2002<br>carol : 3/5/2001<br>terry : 7/9/1998<br>mark : 1/31/1996<br>terry : 1/27/1996<br>mark : 10/3/1995<br>carol : 9/21/1994<br>warfield : 3/30/1994<br>mimadm : 3/12/1994<br>carol : 4/29/1993<br>carol : 6/22/1992
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<span class="mim-font">
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<strong>#</strong> 266900
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<div>
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<h3>
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SENIOR-LOKEN SYNDROME 1; SLSN1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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SENIOR-LOKEN SYNDROME<br />
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LOKEN-SENIOR SYNDROME<br />
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RENAL-RETINAL SYNDROME<br />
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JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS<br />
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RENAL DYSPLASIA AND RETINAL APLASIA
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</span>
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</h4>
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<strong>SNOMEDCT:</strong> 236531005;
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<strong>ORPHA:</strong> 3156;
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<strong>DO:</strong> 0050576;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q13
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<span class="mim-font">
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Senior-Loken syndrome-1
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</td>
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<td>
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<span class="mim-font">
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266900
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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NPHP1
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<span class="mim-font">
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607100
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Senior-Loken syndrome-1 (SLSN1) is caused by homozygous mutation in the NPHP1 gene (607100) on chromosome 2q13.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome.</p><p><strong><em>Genetic Heterogeneity of Senior-Loken Syndrome</em></strong></p><p>
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Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37.</p><p>Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387).</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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<span class="mim-text-font">
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<p>The symbols used for the first 3 identified forms of Senior-Loken syndrome were correlated with the original symbols used for proteins mutated in various forms of nephronophthisis (NPHP1-NPHP4). Because no form of SLSN had been found to be associated with the NPHP2 gene (now symbolized INVS, 243305), which is mutant in NPHP2 (602088), the symbol SLSN2 was left out of the series.</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Loken et al. (1961) reported brother and sister with the main features of nephronophthisis and Leber congenital amaurosis. In the sister, renal dysplasia was proved at autopsy. Senior et al. (1961) and Fairley et al. (1963) also reported families with an oculorenal syndrome. In the former family the renal changes resembled those in Fanconi familial juvenile nephronophthisis (256100). In the latter family the renal change was similar to that in polycystic kidney. </p><p>In an Amish isolate, Schimke (1969) found 2 cousins with vasopressin-resistant diabetes insipidus, progressive azotemia, and retinitis pigmentosa. A more remotely related person may also have been affected. Despite some histologic similarities to juvenile nephronophthisis and to medullary cystic disease, Schimke (1969) concluded that the total clinicogenetic picture supported the view that this is a distinct entity. </p><p>Dekaban (1969) described 2 brothers with congenital retinal blindness and a developmental renal abnormality leading to uremia. Autopsy was performed in 1 of the patients who died at age 10 years. </p><p>The heterogeneity of the renal-retinal syndrome is indicated by the variable age of onset of the retinal abnormality. In some families it is congenital, whereas in others it behaves like isolated recessive retinitis pigmentosa. In connection with the longstanding association claimed between juvenile nephronophthisis, bone dysplasia, and retinitis pigmentosa, Mendley et al. (1995) expressed doubts concerning the rigor with which the renal diagnoses has been made in some patients. </p><p>Hogewind et al. (1977) found asymptomatic electroretinographic changes in some obligatory heterozygotes for renal-retinal dysplasia. Diekmann et al. (1977) described retinitis pigmentosa and nephronophthisis in 2 young sisters, one of whom died at age 7 years. Boichis et al. (1973), Proesmans et al. (1975), and Delaney et al. (1978) described the triad of nephronophthisis, retinal degeneration or hypoplasia, and congenital hepatic fibrosis. Whether this is a separate entity is not clear. Godel et al. (1979) reviewed the retinopathy in 3 families and emphasized its variability: congenital Leber amaurosis, retinitis pigmentosa, and sector retinitis pigmentosa. </p><p>Clarke et al. (1992) described a brother and sister, the products of a first-cousin marriage between parents of Asiatic Indian origin, who had nephronophthisis and retinal dystrophy associated with moderately severe sensorineural hearing loss bilaterally. Deafness had not previously been reported with the Senior-Loken syndrome; Clarke et al. (1992) suggested that this 'may represent a genetically linked condition.' </p><p>Warady et al. (1994) reported 2 sporadic cases: a girl in whom the diagnosis of Leber amaurosis had been made at 3 months of age, who had polyuria and polydipsia from the age of 4 years and who was found to have end-stage renal disease at age 11; and a 5.5-year-old boy with Dandy-Walker syndrome, Leber amaurosis, and mental retardation as well as longstanding polyuria and polydipsia. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The prevalence of nephronophthisis is estimated to be 1 in 100,000, with 1 in 10 affected individuals having retinal dysfunction, constituting Senior-Loken syndrome (summary by Otto et al., 2005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Caridi et al. (1998) described Senior-Loken syndrome (SLSN1) in patients with homozygous deletion (607100.0005) of the NPHP1 gene. </p><p><strong><em>Modifier Genes</em></strong></p><p>
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Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L gene (A229T; 610937.0013) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations, including SLSN. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Antignac et al. (1993) demonstrated linkage of nephronophthisis to a region on chromosome 2p (NPHP1; 256100) but excluded linkage of Senior-Loken syndrome from this region. They suggested that there may be genetic heterogeneity between nephronophthisis and Senior-Loken syndrome. </p><p>Omran et al. (2002) identified a gene locus for Senior-Loken syndrome on chromosome 3q21-q22 (SLSN3; 606995), in the region of the NPHP3 locus (604387). </p><p>Schuermann et al. (2002) identified a Senior-Loken syndrome locus on 1p36.31 (SLSN4; 606996), overlapping the NPHP4 locus (606996). In patients with Senior-Loken syndrome mapping to chromosome 1p36, Otto et al. (2002) identified mutations in the NPHP4 gene (607215). </p><p>Otto et al. (2005) refined the critical genetic region for SLSN5 to an 8.7-Mb interval containing the IQCB1 gene on chromosome 3q21.1. They identified 8 different mutations in the IQCB1 gene in patients with SLSN (e.g., 609237.0001). All individuals with IQCB1 mutations had retinitis pigmentosa, and Otto et al. (2005) concluded that mutation in IQCB1 is the most frequent cause of SLSN. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Avasthi et al. (1976); Bois and Royer (1970); Fontaine et al. (1970);
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Keeler (1924); Saraux et al. (1970); Schuman et al. (1985)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<p />
|
|
</div>
|
|
|
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Antignac, C., Arduy, C. H., Beckmann, J. S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.-L., Kleinknecht, C., Broyer, M., Weissenbach, J., Habib, R., Cohen, D.
|
|
<strong>A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.</strong>
|
|
Nature Genet. 3: 342-345, 1993.
|
|
|
|
|
|
[PubMed: 7981755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0493-342]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Avasthi, P. S., Erickson, D. G., Gardner, K. D.
|
|
<strong>Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.</strong>
|
|
Ann. Intern. Med. 84: 157-161, 1976.
|
|
|
|
|
|
[PubMed: 766680]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-84-2-157]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boichis, H., Passwell, J., David, R., Miller, H.
|
|
<strong>Congenital hepatic fibrosis and nephronophthisis: a family study.</strong>
|
|
Quart. J. Med. 42: 221-233, 1973.
|
|
|
|
|
|
[PubMed: 13804544]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1960.tb07761.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bois, E., Royer, P.
|
|
<strong>Association de nephropathie tubulo-interstitielle chronique et de degenerescence tapeto-retinienne. Etude genetique.</strong>
|
|
Arch. Franc. Pediat. 27: 471-481, 1970.
|
|
|
|
|
|
[PubMed: 5425823]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caridi, G., Murer, L., Bellantuono, R., Sorino, P., Caringella, D. A., Gusmano, R., Ghiggeri, G. M.
|
|
<strong>Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.</strong>
|
|
Am. J. Kidney Dis. 32: 1059-1062, 1998.
|
|
|
|
|
|
[PubMed: 9856524]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0272-6386(98)70083-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clarke, M. P., Sullivan, T. J., Francis, C., Baumal, R., Fenton, T., Pearce, W. G.
|
|
<strong>Senior-Loken syndrome: case report of two siblings and association with sensorineural deafness.</strong>
|
|
Brit. J. Ophthal. 76: 171-172, 1992.
|
|
|
|
|
|
[PubMed: 1540564]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.76.3.171]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dekaban, A. S.
|
|
<strong>Familial occurrence of congenital retinal blindness and developmental retinal lesions.</strong>
|
|
J. Genet. Hum. 17: 289-296, 1969.
|
|
|
|
|
|
[PubMed: 5387411]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Delaney, V., Mullaney, J., Bourke, E.
|
|
<strong>Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.</strong>
|
|
Quart. J. Med. 47: 281-290, 1978.
|
|
|
|
|
|
[PubMed: 568809]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Diekmann, L., Louis, C., Schulte-Kemna, E.
|
|
<strong>Familiaere Nephropathie mit Retinitis pigmentosa und peripherer Dysostose.</strong>
|
|
Helv. Paediat. Acta 32: 375-382, 1977.
|
|
|
|
|
|
[PubMed: 617982]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fairley, K. F., Leighton, P. W., Kincaid-Smith, P.
|
|
<strong>Familial visual defects associated with polycystic kidney and medullary sponge kidney.</strong>
|
|
Brit. Med. J. 1: 1060-1063, 1963.
|
|
|
|
|
|
[PubMed: 20789756]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bmj.1.5337.1060]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fontaine, J. L., Boulesteix, J., Saraux, H., Lasfargues, G., Grenet, P., Ghiem Minh Dung, N., Dhermy, P., Roy, C., Laplane, R.
|
|
<strong>Nephropathie tubulo-interstitielle de l'enfant avec degenerescence tapeto-retinienne (syndrome de Senior). A propos d'une observation.</strong>
|
|
Arch. Franc. Pediat. 27: 459-470, 1970.
|
|
|
|
|
|
[PubMed: 5425822]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Godel, V., Iaina, A., Nemet, P., Lazar, M.
|
|
<strong>Retinal manifestations in familial juvenile nephronophthisis.</strong>
|
|
Clin. Genet. 16: 277-281, 1979.
|
|
|
|
|
|
[PubMed: 519897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb01000.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hogewind, B. L., Veltkamp, J. J., Polak, B. C. P., van Es, L. A.
|
|
<strong>Electro-retinal abnormalities in heterozygotes of renal-retinal dysplasia.</strong>
|
|
Acta Med. Scand. 202: 323-326, 1977.
|
|
|
|
|
|
[PubMed: 920253]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.0954-6820.1977.tb16836.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Keeler, C. E.
|
|
<strong>The inheritance of a retinal abnormality in white mice.</strong>
|
|
Proc. Nat. Acad. Sci. 10: 329-333, 1924.
|
|
|
|
|
|
[PubMed: 16576828]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.10.7.329]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
|
|
<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. (Letter)</strong>
|
|
Nature Genet. 41: 739-745, 2009.
|
|
|
|
|
|
[PubMed: 19430481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.366]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loken, A. C., Hanssen, O., Halvorsen, S., Jolster, N. J.
|
|
<strong>Hereditary renal dysplasia and blindness.</strong>
|
|
Acta Paediat. (Stockh.) 50: 177-184, 1961.
|
|
|
|
|
|
[PubMed: 13763238]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1961.tb08037.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mendley, S. R., Poznanski, A. K., Spargo, B. H., Langman, C. B.
|
|
<strong>Hereditary sclerosing glomerulopathy in the conorenal syndrome.</strong>
|
|
Am. J. Kidney Dis. 25: 792-797, 1995.
|
|
|
|
|
|
[PubMed: 7747734]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0272-6386(95)90556-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Omran, H., Sasmaz, G., Haffner, K., Volz, A., Olbrich, H., Melkaoui, R., Otto, E., Wienker, T. F., Korinthenberg, R., Brandis, M., Antignac, C., Hildebrandt, F.
|
|
<strong>Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene.</strong>
|
|
J. Am. Soc. Nephrol. 13: 75-79, 2002.
|
|
|
|
|
|
[PubMed: 11752023]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1681/ASN.V13175]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., Utsch, B., Sayer, J. A., and 21 others.
|
|
<strong>Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.</strong>
|
|
Nature Genet. 37: 282-288, 2005.
|
|
|
|
|
|
[PubMed: 15723066]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1520]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhager, R., Sudbrak, R., Hennies, H. C., Nurnberg, P., Hildebrandt, F.
|
|
<strong>A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.</strong>
|
|
Am. J. Hum. Genet. 71: 1161-1167, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1489 only, 2002.
|
|
|
|
|
|
[PubMed: 12205563]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/344395]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Proesmans, W., Van Damme, B., Macken, J.
|
|
<strong>Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.</strong>
|
|
Clin. Nephrol. 3: 160-164, 1975.
|
|
|
|
|
|
[PubMed: 1149338]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saraux, H., Dhermy, P., Fontaine, J. L., Boulesteix, J., Lasfargues, S. G., Grenet, P., N'Gheim, M., Laplane, R.
|
|
<strong>La degenerescence retino-tubulaire de Senior et Loken.</strong>
|
|
Arch. Ophtal. Rev. Gen. Ophtal. 30: 683-696, 1970.
|
|
|
|
|
|
[PubMed: 4099092]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schimke, R. N.
|
|
<strong>Hereditary renal-retinal dysplasia.</strong>
|
|
Ann. Intern. Med. 70: 735-744, 1969.
|
|
|
|
|
|
[PubMed: 5771531]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-70-4-735]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Schuermann, M. J., Otto, E., Becker, A., Saar, K., Ruschendorf, F., Polak, B. C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nurnberg, P., Hildebrandt, F.
|
|
<strong>Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36.</strong>
|
|
Am. J. Hum. Genet. 70: 1240-1246, 2002.
|
|
|
|
|
|
[PubMed: 11920287]
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|
|
|
|
[Full Text: https://doi.org/10.1086/340317]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Schuman, J. S., Lieberman, K. V., Friedman, A. H., Berger, M., Schoeneman, M. J.
|
|
<strong>Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.</strong>
|
|
Am. J. Ophthal. 100: 822-827, 1985.
|
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|
|
|
[PubMed: 4073180]
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|
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|
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[Full Text: https://doi.org/10.1016/s0002-9394(14)73374-4]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Senior, B., Friedmann, A. I., Braudo, J. L.
|
|
<strong>Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy.</strong>
|
|
Am. J. Ophthal. 52: 625-633, 1961.
|
|
|
|
|
|
[PubMed: 13910672]
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|
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|
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[Full Text: https://doi.org/10.1016/0002-9394(61)90147-7]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Warady, B. A., Cibis, G., Alon, U., Blowey, D., Hellerstein, S.
|
|
<strong>Senior-Loken syndrome: revisited.</strong>
|
|
Pediatrics 94: 111-112, 1994.
|
|
|
|
|
|
[PubMed: 8008515]
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</p>
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</li>
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</ol>
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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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 6/15/2009<br>Victor A. McKusick - updated : 3/11/2005<br>Victor A. McKusick - updated : 5/17/2002
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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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<br />
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</div>
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<div class="row">
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Victor A. McKusick : 6/4/1986
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alopez : 04/08/2024<br>carol : 04/05/2024<br>carol : 01/17/2018<br>carol : 06/21/2016<br>alopez : 11/4/2015<br>ckniffin : 11/2/2015<br>carol : 6/7/2012<br>carol : 6/7/2012<br>ckniffin : 6/6/2012<br>alopez : 3/7/2012<br>carol : 1/18/2012<br>alopez : 11/3/2010<br>ckniffin : 10/29/2010<br>ckniffin : 10/5/2010<br>alopez : 3/16/2010<br>carol : 3/4/2010<br>carol : 3/4/2010<br>carol : 3/3/2010<br>carol : 3/1/2010<br>terry : 12/17/2009<br>wwang : 6/18/2009<br>ckniffin : 6/15/2009<br>alopez : 6/14/2006<br>mgross : 3/11/2005<br>mgross : 3/11/2005<br>cwells : 11/6/2003<br>carol : 12/26/2002<br>alopez : 6/10/2002<br>alopez : 6/10/2002<br>terry : 5/17/2002<br>carol : 3/5/2001<br>terry : 7/9/1998<br>mark : 1/31/1996<br>terry : 1/27/1996<br>mark : 10/3/1995<br>carol : 9/21/1994<br>warfield : 3/30/1994<br>mimadm : 3/12/1994<br>carol : 4/29/1993<br>carol : 6/22/1992
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