2581 lines
163 KiB
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2581 lines
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Entry
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- #613616 - HYPEROXALURIA, PRIMARY, TYPE III; HP3
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- OMIM
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<p>
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<span class="h4">#613616</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/613616"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS259900"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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="#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 style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=HYPEROXALURIA, PRIMARY, TYPE III" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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 id="mimEuroGentestFold" class="collapse">
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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=3529&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary hyperoxaluria </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12433&Typ=Pat" title="Primary hyperoxaluria type 3" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Primary hyperoxaluria type… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK316514/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8596" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613616[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=416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary hyperoxaluria</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93600" title="Primary hyperoxaluria type 3" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Primary hyperoxaluria type…</a></div>
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</div>
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</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-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111672" 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/613616" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span 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> 734990008<br />
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<strong>ORPHA:</strong> 416, 93600<br />
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<strong>DO:</strong> 0111672<br />
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">ICD+</a>
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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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613616
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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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HYPEROXALURIA, PRIMARY, TYPE III; HP3
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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="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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<span class="mim-font">
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<a href="/geneMap/10/450?start=-3&limit=10&highlight=450">
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10q24.2
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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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Hyperoxaluria, primary, type III
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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/613616"> 613616 </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 recessive">AR</abbr>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
HOGA1
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613597"> 613597 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
|
</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/613616" 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>
|
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</div>
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|
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS259900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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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/613616" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613616" 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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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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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">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
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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">
|
|
|
|
- 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 /> -
|
|
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 /> -
|
|
Urolithiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95566004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95566004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20-N23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20-N23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0451641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0451641</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034368</a>]</span><br /> -
|
|
Calcium oxalate renal stones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232754</a>]</span><br /> -
|
|
Hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br /> -
|
|
End-stage renal disease (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ureteral calculi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31054009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31054009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1456865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1456865</a>, <a href="https://bioportal.bioontology.org/search?q=C0041952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041952</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urethral calculi <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20342001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20342001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N21.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/594.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">594.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162301</a>]</span><br /> -
|
|
Urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68566005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68566005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N39.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N39.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042029&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042029</a>, <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span><br />
|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Hyperoxaluria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367621000119107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367621000119107</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.53</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.992</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020500&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020500</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003159</a>]</span><br /> -
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Glycolic aciduria, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232755</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65520001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65520001</a>]</span><br /> -
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Hypercalciuria (in some patients) <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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Hyperuricosuria (in some patients) <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.993</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003149</a>]</span><br /> -
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Elevated plasma oxalate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232757</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Onset of urolithiasis in infancy<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the 4-hydroxy-2-oxoglutarate aldolase 1 gene (HOGA1, <a href="/entry/613597#0001">613597.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h5>
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Hyperoxaluria, primary
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- <a href="/phenotypicSeries/PS259900">PS259900</a>
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- 3 Entries
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/2/1178?start=-3&limit=10&highlight=1178"> 2q37.3 </a>
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<span class="mim-font">
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<a href="/entry/259900"> Hyperoxaluria, primary, type 1 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/259900"> 259900 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/604285"> AGXT </a>
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<span class="mim-font">
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<a href="/entry/604285"> 604285 </a>
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<span class="mim-font">
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<a href="/geneMap/9/191?start=-3&limit=10&highlight=191"> 9p13.2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/260000"> Hyperoxaluria, primary, type II </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 recessive">AR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/260000"> 260000 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/604296"> GRHPR </a>
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<span class="mim-font">
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<a href="/entry/604296"> 604296 </a>
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</span>
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</td>
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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/10/450?start=-3&limit=10&highlight=450"> 10q24.2 </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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<a href="/entry/613616"> Hyperoxaluria, primary, type III </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 recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613616"> 613616 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/613597"> HOGA1 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/613597"> 613597 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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</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 primary hyperoxaluria type III (HP3) is caused by homozygous or compound heterozygous mutation in the HOGA1 gene (<a href="/entry/613597">613597</a>) on chromosome 10q24.</p>
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<br />
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<div>
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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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<p>Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; <a href="/entry/259900">259900</a>) and type II (HP2; <a href="/entry/260000">260000</a>), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by <a href="#5" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of primary hyperoxaluria, see <a href="/entry/259900">259900</a>.</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p><a href="#4" class="mim-tip-reference" title="Monico, C. G., Rossetti, S., Belostotsky, R., Cogal, A. G., Herges, R. M., Seide, B. M., Olson J. B., Bergstrahl, E. J., Williams, H. J., Haley, W. E., Frishberg, Y., Milliner, D. S. <strong>Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.</strong> Clin. J. Am. Soc. Nephrol. 6: 2289-2295, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896830</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896830[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/10.2215/CJN.02760311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21896830">Monico et al. (2011)</a> compared 25 patients with primary hyperoxaluria type III from 19 unrelated families to patients with primary hyperoxaluria type I and type II. Patients with HP3 had lower urine oxalate and higher urine calcium and uric acid when compared to those with HP1 and HP2. HP3 was also characterized by symptomatic calcium oxalate stone disease early in life, with half of patients presenting with stones by age 5 years. After a median follow-up of 7.2 years, mean estimated glomerular filtration rate was 116 mL/min per 1.73 m-2. None of the patients had progressed to end-stage renal disease. The authors also identified 2 patients with mild hyperoxaluria, both of whom developed symptoms in adulthood, and 3 of 100 idiopathic calcium oxalate stone formers who were heterozygous for mutations in the HOGA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21896830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al. (2015)</a> reported a 27-month-old Chinese boy with primary hyperoxaluria type III. Age of onset was 10 months when he presented with bilateral renal calculi, multiple bladder stones, and upper ureteral calculi. Clinical features included early onset of nephrolithiasis, abnormal increase in urinary excretion levels of oxalate and calcium, and decreased level of citrate. At age 27 months, his renal function was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" 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>Among 7 patients from 6 different families with primary hyperoxaluria type III identified by <a href="#1" class="mim-tip-reference" title="Allard, L., Cochat, P., Leclerc, A.-L., Cachat, F., Fichtner, C., De Souza, V. C., Garcia, C. D., Camoin-Schweitzer, M.-C., Macher, M.-A., Acquaviva-Bourdain, C., Bacchetta, J. <strong>Renal function can be impaired in children with primary hyperoxaluria type 3.</strong> Pediat. Nephrol. 30: 1807-1813, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25972204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25972204</a>] [<a href="https://doi.org/10.1007/s00467-015-3090-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25972204">Allard et al. (2015)</a>, 5 patients presented with urolithiasis and 2 presented with urinary tract infection that subsequently led to a diagnosis of urolithiasis. Median age of onset of symptoms was 1.8 years (range, 0.4-9.8), with onset before age 3 years in 5 patients. Urine crystal analysis, performed in 4 patients, showed monohydrated calcium oxalate. All patients had persistent hyperoxaluria. Urine calcium excretion was normal in all but 1 patient. Urine excretion of glycolate was normal in all patients tested. At last follow-up, 2 patients had significantly impaired renal function, evidenced by abnormal glomerular filtration rates of 77 and 83 mL/min per 1.73 m2 at 12.4 and 3.5 years of age, respectively. Three heterozygous parents in these families had a history of urolithiasis, raising the possibility that heterozygous mutations could lead to mild forms of HP3; however, because no investigations of the kidney stones were performed, other causes of the urolithiasis could not be ruled out. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25972204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="M'dimegh, S., Aquaviva-Bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A. <strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong> J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27561601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27561601</a>] [<a href="https://doi.org/10.1002/jcla.22053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27561601">M'dimegh et al. (2017)</a> identified 3 unrelated Tunisian patients, who ranged in age from 2 to 8 years, with primary hyperoxaluria type III. All 3 patients were born to consanguineous parents. The median age of onset of clinical symptoms was 3.93 years, with a range of 1.5 to 5.5 years. All patients had normal renal function at diagnosis. Two of the families had a positive family history for urolithiasis. All patients presented with urolithiasis, but only one had nephrocalcinosis. Urine crystal analysis, performed in 2 cases, revealed monohydrated calcium oxalate. One patient displayed impaired renal function at follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27561601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of HP3 in the family reported by <a href="#2" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[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/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" 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="#2" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[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/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> performed high-density SNP array analysis in 15 patients with non-HP1/non-HP2 calcium oxalate nephrolithiasis and 24 unaffected relatives from 8 unrelated families. Using a strategy of 'heterozygosity mapping' followed by reconstruction of haplotypes, they identified a 6.1-Mb critical region on chromosome 10 containing 19 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" 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 of 9 unrelated families with non-HP1/non-HP2 calcium oxalate nephrolithiasis mapping to chromosome 10, <a href="#2" class="mim-tip-reference" title="Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y. <strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong> Am. J. Hum. Genet. 87: 392-399, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[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/10.1016/j.ajhg.2010.07.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797690">Belostotsky et al. (2010)</a> analyzed the candidate gene DHDPSL and identified homozygosity or compound heterozygosity for 6 different mutations (<a href="/entry/613597#0001">613597.0001</a>-<a href="/entry/613597#0006">613597.0006</a>, respectively). The unaffected parents were all heterozygous for 1 of the mutations, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-month-old Chinese boy with primary hyperoxaluria in whom mutations in the AGXT (<a href="/entry/604285">604285</a>) and GRHPR (<a href="/entry/604296">604296</a>) genes had been excluded, <a href="#5" class="mim-tip-reference" title="Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L. <strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong> Am. J. Nephrol. 42: 78-84, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>] [<a href="https://doi.org/10.1159/000439232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26340091">Wang et al. (2015)</a> identified compound heterozygous mutations in the HOGA1 gene (<a href="/entry/613597#0007">613597.0007</a> and <a href="/entry/613597#0008">613597.0008</a>). The parents were each heterozygous for one of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" 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>Among 7 patients from 6 different families with HP3, <a href="#1" class="mim-tip-reference" title="Allard, L., Cochat, P., Leclerc, A.-L., Cachat, F., Fichtner, C., De Souza, V. C., Garcia, C. D., Camoin-Schweitzer, M.-C., Macher, M.-A., Acquaviva-Bourdain, C., Bacchetta, J. <strong>Renal function can be impaired in children with primary hyperoxaluria type 3.</strong> Pediat. Nephrol. 30: 1807-1813, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25972204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25972204</a>] [<a href="https://doi.org/10.1007/s00467-015-3090-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25972204">Allard et al. (2015)</a> identified 7 different homozygous or compound heterozygous mutations in the HOGA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25972204" 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 3 unrelated boys, born to consanguineous Tunisian parents, with primary hyperoxaluria, who did not have mutations in the AGXT or GRHPR genes, <a href="#3" class="mim-tip-reference" title="M'dimegh, S., Aquaviva-Bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A. <strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong> J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27561601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27561601</a>] [<a href="https://doi.org/10.1002/jcla.22053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27561601">M'dimegh et al. (2017)</a> identified mutations in the HOGA1 gene: 2 boys were homozygous for a P190L and a G287V (<a href="/entry/613597#0002">613597.0002</a>) mutation, respectively, and the other boy was heterozygous for the G287V mutation. Two of the families had a positive family history for recurrent urolithiasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27561601" 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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Allard, L., Cochat, P., Leclerc, A.-L., Cachat, F., Fichtner, C., De Souza, V. C., Garcia, C. D., Camoin-Schweitzer, M.-C., Macher, M.-A., Acquaviva-Bourdain, C., Bacchetta, J.
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Pediat. Nephrol. 30: 1807-1813, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25972204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25972204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25972204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y.
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Am. J. Hum. Genet. 87: 392-399, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797690[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=20797690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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M'dimegh, S., Aquaviva-Bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A.
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<strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong>
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J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27561601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27561601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27561601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Monico, C. G., Rossetti, S., Belostotsky, R., Cogal, A. G., Herges, R. M., Seide, B. M., Olson J. B., Bergstrahl, E. J., Williams, H. J., Haley, W. E., Frishberg, Y., Milliner, D. S.
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<strong>Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.</strong>
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Clin. J. Am. Soc. Nephrol. 6: 2289-2295, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21896830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21896830</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21896830[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=21896830" 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/10.2215/CJN.02760311" target="_blank">Full Text</a>]
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Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L.
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<strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong>
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Am. J. Nephrol. 42: 78-84, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26340091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26340091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26340091" 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/10.1159/000439232" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 01/08/2021
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Sonja A. Rasmussen - updated : 04/09/2019
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Marla J. F. O'Neill : 10/28/2010
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alopez : 07/25/2024
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carol : 01/08/2021<br>carol : 02/28/2020<br>carol : 04/11/2019<br>carol : 04/10/2019<br>carol : 04/09/2019<br>carol : 12/07/2010<br>wwang : 10/28/2010
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HYPEROXALURIA, PRIMARY, TYPE III; HP3
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<strong>SNOMEDCT:</strong> 734990008;
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<strong>ORPHA:</strong> 416, 93600;
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<strong>DO:</strong> 0111672;
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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10q24.2
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Hyperoxaluria, primary, type III
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613616
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Autosomal recessive
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3
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HOGA1
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613597
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<p>A number sign (#) is used with this entry because of evidence that primary hyperoxaluria type III (HP3) is caused by homozygous or compound heterozygous mutation in the HOGA1 gene (613597) on chromosome 10q24.</p>
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<strong>Description</strong>
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<p>Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; 259900) and type II (HP2; 260000), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by Wang et al., 2015). </p><p>For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900.</p>
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<p>Monico et al. (2011) compared 25 patients with primary hyperoxaluria type III from 19 unrelated families to patients with primary hyperoxaluria type I and type II. Patients with HP3 had lower urine oxalate and higher urine calcium and uric acid when compared to those with HP1 and HP2. HP3 was also characterized by symptomatic calcium oxalate stone disease early in life, with half of patients presenting with stones by age 5 years. After a median follow-up of 7.2 years, mean estimated glomerular filtration rate was 116 mL/min per 1.73 m-2. None of the patients had progressed to end-stage renal disease. The authors also identified 2 patients with mild hyperoxaluria, both of whom developed symptoms in adulthood, and 3 of 100 idiopathic calcium oxalate stone formers who were heterozygous for mutations in the HOGA1 gene. </p><p>Wang et al. (2015) reported a 27-month-old Chinese boy with primary hyperoxaluria type III. Age of onset was 10 months when he presented with bilateral renal calculi, multiple bladder stones, and upper ureteral calculi. Clinical features included early onset of nephrolithiasis, abnormal increase in urinary excretion levels of oxalate and calcium, and decreased level of citrate. At age 27 months, his renal function was normal. </p><p>Among 7 patients from 6 different families with primary hyperoxaluria type III identified by Allard et al. (2015), 5 patients presented with urolithiasis and 2 presented with urinary tract infection that subsequently led to a diagnosis of urolithiasis. Median age of onset of symptoms was 1.8 years (range, 0.4-9.8), with onset before age 3 years in 5 patients. Urine crystal analysis, performed in 4 patients, showed monohydrated calcium oxalate. All patients had persistent hyperoxaluria. Urine calcium excretion was normal in all but 1 patient. Urine excretion of glycolate was normal in all patients tested. At last follow-up, 2 patients had significantly impaired renal function, evidenced by abnormal glomerular filtration rates of 77 and 83 mL/min per 1.73 m2 at 12.4 and 3.5 years of age, respectively. Three heterozygous parents in these families had a history of urolithiasis, raising the possibility that heterozygous mutations could lead to mild forms of HP3; however, because no investigations of the kidney stones were performed, other causes of the urolithiasis could not be ruled out. </p><p>M'dimegh et al. (2017) identified 3 unrelated Tunisian patients, who ranged in age from 2 to 8 years, with primary hyperoxaluria type III. All 3 patients were born to consanguineous parents. The median age of onset of clinical symptoms was 3.93 years, with a range of 1.5 to 5.5 years. All patients had normal renal function at diagnosis. Two of the families had a positive family history for urolithiasis. All patients presented with urolithiasis, but only one had nephrocalcinosis. Urine crystal analysis, performed in 2 cases, revealed monohydrated calcium oxalate. One patient displayed impaired renal function at follow-up. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of HP3 in the family reported by Belostotsky et al. (2010) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Belostotsky et al. (2010) performed high-density SNP array analysis in 15 patients with non-HP1/non-HP2 calcium oxalate nephrolithiasis and 24 unaffected relatives from 8 unrelated families. Using a strategy of 'heterozygosity mapping' followed by reconstruction of haplotypes, they identified a 6.1-Mb critical region on chromosome 10 containing 19 genes. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 9 unrelated families with non-HP1/non-HP2 calcium oxalate nephrolithiasis mapping to chromosome 10, Belostotsky et al. (2010) analyzed the candidate gene DHDPSL and identified homozygosity or compound heterozygosity for 6 different mutations (613597.0001-613597.0006, respectively). The unaffected parents were all heterozygous for 1 of the mutations, respectively. </p><p>In a 27-month-old Chinese boy with primary hyperoxaluria in whom mutations in the AGXT (604285) and GRHPR (604296) genes had been excluded, Wang et al. (2015) identified compound heterozygous mutations in the HOGA1 gene (613597.0007 and 613597.0008). The parents were each heterozygous for one of the mutations. </p><p>Among 7 patients from 6 different families with HP3, Allard et al. (2015) identified 7 different homozygous or compound heterozygous mutations in the HOGA1 gene. </p><p>In 3 unrelated boys, born to consanguineous Tunisian parents, with primary hyperoxaluria, who did not have mutations in the AGXT or GRHPR genes, M'dimegh et al. (2017) identified mutations in the HOGA1 gene: 2 boys were homozygous for a P190L and a G287V (613597.0002) mutation, respectively, and the other boy was heterozygous for the G287V mutation. Two of the families had a positive family history for recurrent urolithiasis. </p>
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<strong>REFERENCES</strong>
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Allard, L., Cochat, P., Leclerc, A.-L., Cachat, F., Fichtner, C., De Souza, V. C., Garcia, C. D., Camoin-Schweitzer, M.-C., Macher, M.-A., Acquaviva-Bourdain, C., Bacchetta, J.
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<strong>Renal function can be impaired in children with primary hyperoxaluria type 3.</strong>
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Pediat. Nephrol. 30: 1807-1813, 2015.
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[PubMed: 25972204]
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[Full Text: https://doi.org/10.1007/s00467-015-3090-x]
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Belostotsky, R., Seboun, E., Idelson, G. H., Milliner, D. S., Becker-Cohen, R., Rinat, C., Monico, C. G., Feinstein, S., Ben-Shalom, E., Magen, D., Weissman, I., Charon, C., Frishberg, Y.
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<strong>Mutations in DHDPSL are responsible for primary hyperoxaluria type III.</strong>
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Am. J. Hum. Genet. 87: 392-399, 2010.
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[PubMed: 20797690]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.023]
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M'dimegh, S., Aquaviva-Bourdain, C., Omezzine, A., Souche, G., M'barek, I., Abidi, K., Gargah, T., Abroug, S., Bouslama, A.
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<strong>HOGA1 gene mutations of primary hyperoxaluria type 3 in Tunisian patients.</strong>
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J. Clin. Lab. Anal. 31: e22053, 2017. Note: Electronic Article.
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[PubMed: 27561601]
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[Full Text: https://doi.org/10.1002/jcla.22053]
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Monico, C. G., Rossetti, S., Belostotsky, R., Cogal, A. G., Herges, R. M., Seide, B. M., Olson J. B., Bergstrahl, E. J., Williams, H. J., Haley, W. E., Frishberg, Y., Milliner, D. S.
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<strong>Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.</strong>
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Clin. J. Am. Soc. Nephrol. 6: 2289-2295, 2011.
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[PubMed: 21896830]
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[Full Text: https://doi.org/10.2215/CJN.02760311]
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Wang, X., Zhao, X., Wang, X., Yao, J., Zhang, F., Lang, Y., Tuffery-Giraud, S., Bottillo, I., Shao, L.
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<strong>Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3.</strong>
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Am. J. Nephrol. 42: 78-84, 2015.
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[PubMed: 26340091]
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[Full Text: https://doi.org/10.1159/000439232]
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Sonja A. Rasmussen - updated : 01/08/2021<br>Sonja A. Rasmussen - updated : 04/09/2019
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