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2020 lines
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Entry
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- %614227 - HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
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- OMIM
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<p>
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<span class="h4">%614227</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/614227"><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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=100689490" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+100689490" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/100689490" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</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="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="http://www.informatics.jax.org/disease/614227" 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:0060062" 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>DO:</strong> 0060062<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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614227
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</span>
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</span>
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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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HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
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</h3>
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</div>
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<div>
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<br />
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/195?start=-3&limit=10&highlight=195">2p22.1-p21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:38300001-47500000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:38,300,001-47,500,000</a> </span>
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</em>
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</strong>
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<br />
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/2/195?start=-3&limit=10&highlight=195">
|
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2p22.1-p21
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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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Hyperuricemic nephropathy, familial juvenile, 3
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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/614227"> 614227 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614227" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> GENITOURINARY </strong>
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<em> Kidneys </em>
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- Interstitial nephropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280217</a>]</span><br /> -
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Defective urinary concentrating ability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280218</a>]</span><br /> -
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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 />
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Elevated serum uric acid concentrations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280219</a>]</span><br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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>Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by <a href="#1" class="mim-tip-reference" title="Piret, S. E., Danoy, P., Dahan, K., Reed, A. A. C., Pryce, K., Wong, W., Torres, R. J., Puig, J. G., Muller, T., Kotanko, P., Lhotta, K., Devuyst, O., Brown, M. A., Thakker, R. V. <strong>Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.</strong> Hum. Genet. 129: 51-58, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20976470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20976470</a>] [<a href="https://doi.org/10.1007/s00439-010-0897-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20976470">Piret et al. (2011)</a> is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, <a href="/entry/162000">162000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20976470" 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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<br />
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Piret, S. E., Danoy, P., Dahan, K., Reed, A. A. C., Pryce, K., Wong, W., Torres, R. J., Puig, J. G., Muller, T., Kotanko, P., Lhotta, K., Devuyst, O., Brown, M. A., Thakker, R. V. <strong>Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.</strong> Hum. Genet. 129: 51-58, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20976470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20976470</a>] [<a href="https://doi.org/10.1007/s00439-010-0897-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20976470">Piret et al. (2011)</a> performed SNP-based genomewide linkage analysis in 6 multiplex families with familial juvenile hyperuricemic nephropathy, including 3 previously studied by <a href="#3" class="mim-tip-reference" title="Williams, S. E., Reed, A. A. C., Galvanovskis, J., Antignac, C., Goodship, T., Karet, F. E., Kotanko, P., Lhotta, K., Moriniere, V., Williams, P., Wong, W., Rorsman, P., Thakker, R. V. <strong>Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.</strong> Hum. Molec. Genet. 18: 2963-2974, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19465746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19465746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19465746[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/10.1093/hmg/ddp235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19465746">Williams et al. (2009)</a> and 2 previously studied by <a href="#2" class="mim-tip-reference" title="Stacey, J. M., Turner, J. J. O., Harding, B., Nesbit, M. A., Kotanko, P., Lhotta, K., Puig, J. G., Torres, R. J., Thakker, R. V. <strong>Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.</strong> J. Clin. Endocr. Metab. 88: 464-470, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12519891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12519891</a>] [<a href="https://doi.org/10.1210/jc.2002-021268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12519891">Stacey et al. (2003)</a>, in which mutations in UMOD (<a href="/entry/191845">191845</a>), REN (<a href="/entry/179820">179820</a>), and HNF1B (<a href="/entry/189907">189907</a>) had been excluded. Parametric linkage analysis using a 'rare dominant' model established linkage in 5 of the 6 HNFJ families, with a lod score greater than 3 (theta = 0) at chromosome 2p22.1-p21. Recombination events in 2 unrelated affected individuals defined an approximately 5.5-Mb disease interval, flanked by <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs372139;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs372139</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs896986;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs896986</a>, a locus that the authors designated FJHN3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12519891+20976470+19465746" 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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<br />
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<a id="molecularGenetics" class="mim-anchor"></a>
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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Piret, S. E., Danoy, P., Dahan, K., Reed, A. A. C., Pryce, K., Wong, W., Torres, R. J., Puig, J. G., Muller, T., Kotanko, P., Lhotta, K., Devuyst, O., Brown, M. A., Thakker, R. V. <strong>Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.</strong> Hum. Genet. 129: 51-58, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20976470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20976470</a>] [<a href="https://doi.org/10.1007/s00439-010-0897-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20976470">Piret et al. (2011)</a> analyzed function and expression patterns of 28 genes contained in the candidate interval on chromosome 2p22.1-p21. Sequence analysis of the most likely candidate, SLC8A1 (<a href="/entry/182305">182305</a>), in probands from 5 families with renal disease mapping to that region did not reveal any mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20976470" 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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<br />
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Piret2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Piret, S. E., Danoy, P., Dahan, K., Reed, A. A. C., Pryce, K., Wong, W., Torres, R. J., Puig, J. G., Muller, T., Kotanko, P., Lhotta, K., Devuyst, O., Brown, M. A., Thakker, R. V.
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<strong>Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.</strong>
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Hum. Genet. 129: 51-58, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20976470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20976470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20976470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-010-0897-1" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Stacey2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stacey, J. M., Turner, J. J. O., Harding, B., Nesbit, M. A., Kotanko, P., Lhotta, K., Puig, J. G., Torres, R. J., Thakker, R. V.
|
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<strong>Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.</strong>
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J. Clin. Endocr. Metab. 88: 464-470, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12519891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12519891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12519891" 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/10.1210/jc.2002-021268" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Williams2009" class="mim-anchor"></a>
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<p class="mim-text-font">
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Williams, S. E., Reed, A. A. C., Galvanovskis, J., Antignac, C., Goodship, T., Karet, F. E., Kotanko, P., Lhotta, K., Moriniere, V., Williams, P., Wong, W., Rorsman, P., Thakker, R. V.
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<strong>Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.</strong>
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Hum. Molec. Genet. 18: 2963-2974, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19465746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19465746</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19465746[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=19465746" 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/10.1093/hmg/ddp235" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 9/15/2011
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alopez : 02/09/2021
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<span class="mim-text-font">
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carol : 01/29/2021<br>ckniffin : 01/26/2021<br>carol : 09/15/2011
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<strong>%</strong> 614227
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HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
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<strong>DO:</strong> 0060062;
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<strong>
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<em>
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Cytogenetic location: 2p22.1-p21
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:38,300,001-47,500,000 </span>
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</em>
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</strong>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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2p22.1-p21
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<span class="mim-font">
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Hyperuricemic nephropathy, familial juvenile, 3
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</td>
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<td>
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<span class="mim-font">
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614227
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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2
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</span>
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</td>
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</tr>
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</tbody>
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by Piret et al. (2011) is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, 162000). </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Piret et al. (2011) performed SNP-based genomewide linkage analysis in 6 multiplex families with familial juvenile hyperuricemic nephropathy, including 3 previously studied by Williams et al. (2009) and 2 previously studied by Stacey et al. (2003), in which mutations in UMOD (191845), REN (179820), and HNF1B (189907) had been excluded. Parametric linkage analysis using a 'rare dominant' model established linkage in 5 of the 6 HNFJ families, with a lod score greater than 3 (theta = 0) at chromosome 2p22.1-p21. Recombination events in 2 unrelated affected individuals defined an approximately 5.5-Mb disease interval, flanked by rs372139 and rs896986, a locus that the authors designated FJHN3. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p><strong><em>Exclusion Studies</em></strong></p><p>
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Piret et al. (2011) analyzed function and expression patterns of 28 genes contained in the candidate interval on chromosome 2p22.1-p21. Sequence analysis of the most likely candidate, SLC8A1 (182305), in probands from 5 families with renal disease mapping to that region did not reveal any mutations. </p>
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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>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Piret, S. E., Danoy, P., Dahan, K., Reed, A. A. C., Pryce, K., Wong, W., Torres, R. J., Puig, J. G., Muller, T., Kotanko, P., Lhotta, K., Devuyst, O., Brown, M. A., Thakker, R. V.
|
|
<strong>Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.</strong>
|
|
Hum. Genet. 129: 51-58, 2011.
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[PubMed: 20976470]
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[Full Text: https://doi.org/10.1007/s00439-010-0897-1]
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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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Stacey, J. M., Turner, J. J. O., Harding, B., Nesbit, M. A., Kotanko, P., Lhotta, K., Puig, J. G., Torres, R. J., Thakker, R. V.
|
|
<strong>Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.</strong>
|
|
J. Clin. Endocr. Metab. 88: 464-470, 2003.
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[PubMed: 12519891]
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[Full Text: https://doi.org/10.1210/jc.2002-021268]
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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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Williams, S. E., Reed, A. A. C., Galvanovskis, J., Antignac, C., Goodship, T., Karet, F. E., Kotanko, P., Lhotta, K., Moriniere, V., Williams, P., Wong, W., Rorsman, P., Thakker, R. V.
|
|
<strong>Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.</strong>
|
|
Hum. Molec. Genet. 18: 2963-2974, 2009.
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[PubMed: 19465746]
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[Full Text: https://doi.org/10.1093/hmg/ddp235]
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</p>
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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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Marla J. F. O'Neill : 9/15/2011
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</span>
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<span class="mim-text-font">
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alopez : 02/09/2021<br>carol : 01/29/2021<br>ckniffin : 01/26/2021<br>carol : 09/15/2011
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