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<title>
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Entry
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- #310468 - NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
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- OMIM
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<span class="h4">#310468</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/310468"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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=(NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE) OR (CLCN5)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3719&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dent disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12453&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Dent disease type 1 </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9518" 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=310468[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dent disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Dent disease type 1</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111798" 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/310468" 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:0111798" 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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<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> 236713006<br />
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<strong>ORPHA:</strong> 1652, 93622<br />
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<strong>DO:</strong> 0111798<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>
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310468
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</span>
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</span>
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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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|
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1<br />
|
|
UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1<br />
|
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NEPHROLITHIASIS 1; NPHL1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/X/293?start=-3&limit=10&highlight=293">
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Xp11.23
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Nephrolithiasis, type I
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/310468"> 310468 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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CLCN5
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300008"> 300008 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/310468" 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>
|
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|
|
|
|
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/310468" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/310468" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
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|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
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|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Proximal renal tubule defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span><br /> -
|
|
Nephrocalcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br /> -
|
|
Nephrolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95570007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span><br /> -
|
|
Renal insufficiency, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0748318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0748318</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</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><br /> -
|
|
Renal failure in adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839604</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 /> -
|
|
Renal biopsy shows tubular atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839605</a>]</span><br /> -
|
|
Interstitial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/125565008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">125565008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887486</a>]</span><br /> -
|
|
Glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82646005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82646005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197661001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197661001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1417247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1417247</a>, <a href="https://bioportal.bioontology.org/search?q=C0178664&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0178664</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000096</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
|
</div>
|
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|
|
</div>
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Low-molecular-weight proteinuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003126</a>]</span><br /> -
|
|
Hypercalciuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71938000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71938000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.994" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.994</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002150</a>]</span><br /> -
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Microscopic hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197940006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197940006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002907" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002907</a>]</span><br />
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- Variable phenotypic severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Female carriers may have asymptomatic proteinuria or hypercalciuria<br /> -
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Part of 'Dent disease complex' (see <a href="/entry/300009">300009</a>)<br />
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- Caused by mutation in the chloride channel 5 gene (CLCN5, <a href="/entry/300008#0005">300008.0005</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that X-linked recessive nephrolithiasis with renal failure (XRN) is caused by mutation in the CLCN5 gene (<a href="/entry/300008">300008</a>) on chromosome Xp11.</p>
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<p>X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (<a href="#6" class="mim-tip-reference" title="Scheinman, S. J. <strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong> Kidney Int. 53: 3-17, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452994</a>] [<a href="https://doi.org/10.1046/j.1523-1755.1998.00718.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9452994">Scheinman, 1998</a>; <a href="#3" class="mim-tip-reference" title="Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L. <strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong> Am. J. Kidney Dis. 44: 963-986, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558518</a>] [<a href="https://doi.org/10.1053/j.ajkd.2004.06.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558518">Gambaro et al., 2004</a>). For a general discussion of Dent disease, see <a href="/entry/300009">300009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15558518+9452994" 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="Frymoyer, P. A., Scheinman, S. J., Dunham, P. B., Jones, D. B., Hueber, P., Schroeder, E. T. <strong>X-linked recessive nephrolithiasis with renal failure.</strong> New Eng. J. Med. 325: 681-686, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1908057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1908057</a>] [<a href="https://doi.org/10.1056/NEJM199109053251003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1908057">Frymoyer et al. (1991)</a> reported a large kindred living in the St. Lawrence valley of northern New York, descendants of 19th century Irish immigrants, with nephrolithiasis inherited in an X-linked recessive pattern. Nine affected males had onset in childhood of calcium nephrolithiasis and proteinuria, with progression to nephrocalcinosis and renal insufficiency. Renal biopsies showed tubular atrophy, interstitial fibrosis, and glomerulosclerosis. Renal biopsies were abnormal even in younger members, but abnormalities in the renal excretion of calcium, phosphate, potassium, and uric acid were found only in affected adults. In 1 patient who had a renal transplant for 7 years, the disease had not recurred. <a href="#2" class="mim-tip-reference" title="Frymoyer, P. A., Scheinman, S. J., Schroeder, E. T. <strong>X-linked recessive nephrolithiasis with renal failure. (Letter)</strong> New Eng. J. Med. 326: 1029-1030, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372109</a>] [<a href="https://doi.org/10.1056/NEJM199204093261516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372109">Frymoyer et al. (1992)</a> pointed out that patients with X-linked recessive nephrocalcinosis differed from Dent disease by having normal growth, no evidence of bone disease, and sometimes absence of hypercalciuria despite the presence of nephrocalcinosis, recurrent calcium nephrolithiasis, or both. Furthermore, all could acidify their urine to a pH below 5.6. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1372109+1908057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the family reported by <a href="#1" class="mim-tip-reference" title="Frymoyer, P. A., Scheinman, S. J., Dunham, P. B., Jones, D. B., Hueber, P., Schroeder, E. T. <strong>X-linked recessive nephrolithiasis with renal failure.</strong> New Eng. J. Med. 325: 681-686, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1908057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1908057</a>] [<a href="https://doi.org/10.1056/NEJM199109053251003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1908057">Frymoyer et al. (1991)</a> as having X-linked recessive nephrolithiasis, <a href="#5" class="mim-tip-reference" title="Scheinman, S. J., Pook, M. A., Wooding, C., Pang, J. T., Frymoyer, P. A., Thakker, R. V. <strong>Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.</strong> J. Clin. Invest. 91: 2351-2357, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099916</a>] [<a href="https://doi.org/10.1172/JCI116467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8099916">Scheinman et al. (1993)</a> found linkage to chromosome Xp11.22 (maximum lod score of 5.91 at marker DXS255). Multilocus analysis indicated that the mutant gene was distal to DXS255 but proximal to the DMD (<a href="/entry/300377">300377</a>) locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8099916+1908057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members from 2 unrelated North American families with X-linked recessive nephrolithiasis, <a href="#4" class="mim-tip-reference" title="Lloyd, S. E., Pearce, S. H. S., Fisher, S. E., Steinmeyer, K., Schwappach, B., Scheinman, S. J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S. P. A., Wrong, O., Jentsch, T. J., Craig, I. W., Thakker, R. V. <strong>A common molecular basis for three inherited kidney stone diseases.</strong> Nature 379: 445-449, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8559248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8559248</a>] [<a href="https://doi.org/10.1038/379445a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8559248">Lloyd et al. (1996)</a> identified 2 different mutations in the CLCN5 gene (<a href="/entry/300008#0005">300008.0005</a>; <a href="/entry/300008#0006">300008.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8559248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a kindred with X-linked recessive nephrolithiasis, <a href="#7" class="mim-tip-reference" title="Schurman, S. J., Norden, A. G. W., Scheinman, S. J. <strong>X-linked recessive nephrolithiasis: presentation and diagnosis in children.</strong> J. Pediat. 132: 859-862, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9602200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9602200</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70318-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9602200">Schurman et al. (1998)</a> identified a mutation in the CLCN5 gene (<a href="/entry/300008#0011">300008.0011</a>). The disease had occurred in males in first, third, and fifth generations, with the carrier females in the intervening second and fourth generations. Individuals at risk were screened with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9602200" 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="Scheinman, S. J., Pook, M. A., Wooding, C., Pang, J. T., Frymoyer, P. A., Thakker, R. V. <strong>Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.</strong> J. Clin. Invest. 91: 2351-2357, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099916</a>] [<a href="https://doi.org/10.1172/JCI116467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8099916">Scheinman et al. (1993)</a> suggested the symbol 'XRN' (for X-linked recessive nephrolithiasis) for this disorder; NPHL1 was the locus symbol assigned by the human gene nomenclature committee. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099916" 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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Frymoyer, P. A., Scheinman, S. J., Dunham, P. B., Jones, D. B., Hueber, P., Schroeder, E. T.
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<strong>X-linked recessive nephrolithiasis with renal failure.</strong>
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New Eng. J. Med. 325: 681-686, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1908057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1908057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1908057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199109053251003" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Frymoyer, P. A., Scheinman, S. J., Schroeder, E. T.
|
|
<strong>X-linked recessive nephrolithiasis with renal failure. (Letter)</strong>
|
|
New Eng. J. Med. 326: 1029-1030, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199204093261516" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Gambaro2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L.
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|
<strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong>
|
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Am. J. Kidney Dis. 44: 963-986, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558518" 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/10.1053/j.ajkd.2004.06.030" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Lloyd1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lloyd, S. E., Pearce, S. H. S., Fisher, S. E., Steinmeyer, K., Schwappach, B., Scheinman, S. J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S. P. A., Wrong, O., Jentsch, T. J., Craig, I. W., Thakker, R. V.
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<strong>A common molecular basis for three inherited kidney stone diseases.</strong>
|
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Nature 379: 445-449, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8559248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8559248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8559248" 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/10.1038/379445a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Scheinman1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scheinman, S. J., Pook, M. A., Wooding, C., Pang, J. T., Frymoyer, P. A., Thakker, R. V.
|
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<strong>Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.</strong>
|
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J. Clin. Invest. 91: 2351-2357, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8099916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8099916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8099916" 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/10.1172/JCI116467" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Scheinman1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scheinman, S. J.
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<strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong>
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Kidney Int. 53: 3-17, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9452994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9452994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9452994" 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/10.1046/j.1523-1755.1998.00718.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Schurman1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schurman, S. J., Norden, A. G. W., Scheinman, S. J.
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<strong>X-linked recessive nephrolithiasis: presentation and diagnosis in children.</strong>
|
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J. Pediat. 132: 859-862, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9602200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9602200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9602200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(98)70318-x" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Cassandra L. Kniffin - reorganized : 9/19/2005
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</span>
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</div>
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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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Victor A. McKusick - updated : 6/10/1998
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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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<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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</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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Victor A. McKusick : 9/18/1991
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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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<a id="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 06/22/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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terry : 11/25/2009<br>ckniffin : 9/15/2008<br>carol : 9/19/2005<br>ckniffin : 9/6/2005<br>terry : 6/15/1998<br>dholmes : 6/10/1998<br>dholmes : 6/10/1998<br>joanna : 2/1/1996<br>mark : 1/31/1996<br>mark : 1/31/1996<br>terry : 1/30/1996<br>terry : 12/21/1994<br>warfield : 4/20/1994<br>mimadm : 3/1/1994<br>carol : 2/28/1994<br>carol : 7/9/1993<br>carol : 10/13/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 310468
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1<br />
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UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1<br />
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NEPHROLITHIASIS 1; NPHL1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 236713006;
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<strong>ORPHA:</strong> 1652, 93622;
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<strong>DO:</strong> 0111798;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Xp11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Nephrolithiasis, type I
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</span>
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</td>
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<td>
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<span class="mim-font">
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310468
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CLCN5
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</span>
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</td>
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<td>
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<span class="mim-font">
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300008
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<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>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that X-linked recessive nephrolithiasis with renal failure (XRN) is caused by mutation in the CLCN5 gene (300008) on chromosome Xp11.</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>Description</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>X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. </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>Clinical Features</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>Frymoyer et al. (1991) reported a large kindred living in the St. Lawrence valley of northern New York, descendants of 19th century Irish immigrants, with nephrolithiasis inherited in an X-linked recessive pattern. Nine affected males had onset in childhood of calcium nephrolithiasis and proteinuria, with progression to nephrocalcinosis and renal insufficiency. Renal biopsies showed tubular atrophy, interstitial fibrosis, and glomerulosclerosis. Renal biopsies were abnormal even in younger members, but abnormalities in the renal excretion of calcium, phosphate, potassium, and uric acid were found only in affected adults. In 1 patient who had a renal transplant for 7 years, the disease had not recurred. Frymoyer et al. (1992) pointed out that patients with X-linked recessive nephrocalcinosis differed from Dent disease by having normal growth, no evidence of bone disease, and sometimes absence of hypercalciuria despite the presence of nephrocalcinosis, recurrent calcium nephrolithiasis, or both. Furthermore, all could acidify their urine to a pH below 5.6. </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>Mapping</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">
|
|
<p>In the family reported by Frymoyer et al. (1991) as having X-linked recessive nephrolithiasis, Scheinman et al. (1993) found linkage to chromosome Xp11.22 (maximum lod score of 5.91 at marker DXS255). Multilocus analysis indicated that the mutant gene was distal to DXS255 but proximal to the DMD (300377) locus. </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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In affected members from 2 unrelated North American families with X-linked recessive nephrolithiasis, Lloyd et al. (1996) identified 2 different mutations in the CLCN5 gene (300008.0005; 300008.0006). </p><p>In affected members of a kindred with X-linked recessive nephrolithiasis, Schurman et al. (1998) identified a mutation in the CLCN5 gene (300008.0011). The disease had occurred in males in first, third, and fifth generations, with the carrier females in the intervening second and fourth generations. Individuals at risk were screened with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium. </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>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</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>Scheinman et al. (1993) suggested the symbol 'XRN' (for X-linked recessive nephrolithiasis) for this disorder; NPHL1 was the locus symbol assigned by the human gene nomenclature committee. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Frymoyer, P. A., Scheinman, S. J., Dunham, P. B., Jones, D. B., Hueber, P., Schroeder, E. T.
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<strong>X-linked recessive nephrolithiasis with renal failure.</strong>
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New Eng. J. Med. 325: 681-686, 1991.
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[PubMed: 1908057]
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[Full Text: https://doi.org/10.1056/NEJM199109053251003]
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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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Frymoyer, P. A., Scheinman, S. J., Schroeder, E. T.
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<strong>X-linked recessive nephrolithiasis with renal failure. (Letter)</strong>
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New Eng. J. Med. 326: 1029-1030, 1992.
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[PubMed: 1372109]
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[Full Text: https://doi.org/10.1056/NEJM199204093261516]
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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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Gambaro, G., Vezzoli, G., Casari, G., Rampoldi, L., D'Angelo, A., Borghi, L.
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<strong>Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.</strong>
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Am. J. Kidney Dis. 44: 963-986, 2004.
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[PubMed: 15558518]
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[Full Text: https://doi.org/10.1053/j.ajkd.2004.06.030]
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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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Lloyd, S. E., Pearce, S. H. S., Fisher, S. E., Steinmeyer, K., Schwappach, B., Scheinman, S. J., Harding, B., Bolino, A., Devoto, M., Goodyer, P., Rigden, S. P. A., Wrong, O., Jentsch, T. J., Craig, I. W., Thakker, R. V.
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<strong>A common molecular basis for three inherited kidney stone diseases.</strong>
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Nature 379: 445-449, 1996.
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[PubMed: 8559248]
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[Full Text: https://doi.org/10.1038/379445a0]
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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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Scheinman, S. J., Pook, M. A., Wooding, C., Pang, J. T., Frymoyer, P. A., Thakker, R. V.
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<strong>Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.</strong>
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J. Clin. Invest. 91: 2351-2357, 1993.
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[PubMed: 8099916]
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[Full Text: https://doi.org/10.1172/JCI116467]
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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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Scheinman, S. J.
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<strong>X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.</strong>
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Kidney Int. 53: 3-17, 1998.
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[PubMed: 9452994]
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[Full Text: https://doi.org/10.1046/j.1523-1755.1998.00718.x]
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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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Schurman, S. J., Norden, A. G. W., Scheinman, S. J.
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<strong>X-linked recessive nephrolithiasis: presentation and diagnosis in children.</strong>
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J. Pediat. 132: 859-862, 1998.
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[PubMed: 9602200]
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[Full Text: https://doi.org/10.1016/s0022-3476(98)70318-x]
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Cassandra L. Kniffin - reorganized : 9/19/2005<br>Victor A. McKusick - updated : 6/10/1998
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Victor A. McKusick : 9/18/1991
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