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Entry
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- #300323 - HYPERURICEMIA, HPRT-RELATED; HRH
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- OMIM
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<p>
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<span class="h4">#300323</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300323"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</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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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</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=HYPERURICEMIA, HPRT-RELATED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11259&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1149/" 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/9096" 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/lesch-nyhan-syndrome" 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=300323[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79233" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112127" 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/300323" 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:0112127" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 238007004<br />
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<strong>ORPHA:</strong> 79233<br />
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<strong>DO:</strong> 0112127<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300323
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPERURICEMIA, HPRT-RELATED; HRH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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KELLEY-SEEGMILLER SYNDROME<br />
|
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GOUT, HPRT-RELATED<br />
|
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HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL<br />
|
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HPRT DEFICIENCY, PARTIAL<br />
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HPRT1 DEFICIENCY, PARTIAL
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/697?start=-3&limit=10&highlight=697">
|
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Xq26.2-q26.3
|
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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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Hyperuricemia, HRPT-related
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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/300323"> 300323 </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="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<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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HPRT1
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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/308000"> 308000 </a>
|
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</span>
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</td>
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</tr>
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<a href="/clinicalSynopsis/300323" 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 class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300323" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300323" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Kidneys </em>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 /> -
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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>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Gout <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90560007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90560007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018099</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
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Hyperuricosuria <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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Partial deficiency of hypoxanthine phosphoribosyltransferase (HPRT, 78% activity)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, <a href="/entry/308000#0001">308000.0001</a>)<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<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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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because HPRT-related hyperuricemia (HRH), also known as Kelley-Seegmiller syndrome, is caused by mutation in the HPRT gene (<a href="/entry/308000">308000</a>) that results in partial deficiency of hypoxanthine guanine phosphoribosyltransferase.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; <a href="/entry/300322">300322</a>), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by <a href="#9" class="mim-tip-reference" title="Zoref-Shani, E., Feinstein, S., Frishberg, Y., Bromberg, Y., Sperling, O. <strong>Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.</strong> Biochim. Biophys. Acta 1500: 197-203, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10657589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10657589</a>] [<a href="https://doi.org/10.1016/s0925-4439(99)00103-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10657589">Zoref-Shani et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10657589" 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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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>In 5 male patients with gout, <a href="#4" class="mim-tip-reference" title="Kelley, W. N., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E. <strong>A specific enzyme defect in gout associated with overproduction of uric acid.</strong> Proc. Nat. Acad. Sci. 57: 1735-1739, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4291947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4291947</a>] [<a href="https://doi.org/10.1073/pnas.57.6.1735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4291947">Kelley et al. (1967)</a> found a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Two brothers in 1 family were 24 and 11 years old; three brothers in another family were 42, 49, and 55 years old. In the first family, nephrolithiasis began at age 6 or 7, followed in one by gouty arthritis at age 13. In the 3 brothers, acute gouty arthritis began between ages 20 and 31 and 2 had had recurrent nephrolithiasis. The 2 brothers of the first family had spinocerebellar derangement distinct from the neurologic disorder of the Lesch-Nyhan syndrome. The characteristics of the enzyme were the same in each family but different between families. The differences concerned relative activities for guanine and hypoxanthine and heat stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4291947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="McDonald, J. A., Kelley, W. N. <strong>Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.</strong> Science 171: 689-691, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4322125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4322125</a>] [<a href="https://doi.org/10.1126/science.171.3972.689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4322125">McDonald and Kelley (1971)</a> presented evidence of genetic heterogeneity in the Lesch-Nyhan syndrome. In the patient they reported, HPRT showed altered kinetics. Among 425 cases of hyperuricemia with gout or uric acid stone or both, <a href="#8" class="mim-tip-reference" title="Yu, T.-F., Balis, M. E., Krenitsky, T. A., Dancis, J., Silvers, D. N., Elion, G. B., Gutman, A. B. <strong>Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.</strong> Ann. Intern. Med. 76: 255-264, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5009592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5009592</a>] [<a href="https://doi.org/10.7326/0003-4819-76-2-255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5009592">Yu et al. (1972)</a> found 7 with partial HPRT deficiency and 5 of these were members of one family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5009592+4322125" 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="#1" class="mim-tip-reference" title="Andres, A., Praga, M., Ruilope, L. M., Martinez, J. M., Millet, V. G., Bello, I., Rodicio, J. L. <strong>Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.</strong> Nephron 46: 179-181, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600927</a>] [<a href="https://doi.org/10.1159/000184337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3600927">Andres et al. (1987)</a> reported the case of a 12-year-old boy who presented with acute renal failure accompanied by a disproportionate increase of serum uric acid level and massive uric acid crystalluria. After alkalinization and allopurinol therapy, serum uric acid and renal function returned to normal. HPRT deficiency was found as the basis of the abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3600927" 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="#9" class="mim-tip-reference" title="Zoref-Shani, E., Feinstein, S., Frishberg, Y., Bromberg, Y., Sperling, O. <strong>Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.</strong> Biochim. Biophys. Acta 1500: 197-203, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10657589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10657589</a>] [<a href="https://doi.org/10.1016/s0925-4439(99)00103-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10657589">Zoref-Shani et al. (2000)</a> reported a 4.5-year-old boy who was admitted to the hospital at the age of 3.5 years with acute renal failure due to uric acid nephropathy. A streptococcal throat infection and fever were present at the same time and may have been precipitating or contributing factors. The precise nature of the DNA change was not described. The authors stated that the underlying HPRT mutation was unique in that the specific activity in HPRT and erythrocyte and fibroblast lysates was normal, but the rate of uptake of hypoxanthine into nucleotides of intact cultured fibroblasts was markedly reduced (23% of normal). Other metabolic features of the mutation were described as well. With allopurinol treatment, the patient had had no further problems and was developing normally at 5 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10657589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Srivastava, T., O'Neill, J. P., Dasouki, M., Simckes, A. M. <strong>Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.</strong> Am. J. Med. Genet. 108: 219-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891689</a>] [<a href="https://doi.org/10.1002/ajmg.10217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891689">Srivastava et al. (2002)</a> reported the case of a 12-year-old boy who presented with recurrent acute renal failure from hyperuricemia and had no phenotypic features of Lesch-Nyhan syndrome. Acute infectious mononucleosis may have triggered the acute renal failure, and treatment with allopurinol prevented further episodes. Unlike the cells from patients with Lesch-Nyhan syndrome, the in vitro cultures of this patient's T lymphocytes did not proliferate in the presence of purine analog 6-thioguanine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P., Ceballos-Picot, I. <strong>Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.</strong> Molec. Genet. Metab. 127: 147-157, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31182398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31182398</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31182398">Madeo et al. (2019)</a> described the association between HPRT mutations and residual enzymatic activity in 76 French and Italian patients including 52 with LNS, 18 with the LNS neurologic variant (see <a href="/entry/300322">300322</a>), and 6 with HRH. HPRT enzyme activity was measured in red blood cell lysates via a chromatographic assay using radiolabeled hypoxanthine. HPRT activity was significantly lower in LNS compared with attenuated variants and higher in HRH than in phenotypes with neurologic involvement. There was not a significant difference in residual enzyme activity between patients with LNS and the neurologic variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31182398" 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 2 brothers with hyperuricemia and nephrolithiasis, <a href="#3" class="mim-tip-reference" title="Fujimori, S., Hidaka, Y., Davidson, B. L., Palella, T. D., Kelley, W. N. <strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong> Hum. Genet. 79: 39-43, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896620</a>] [<a href="https://doi.org/10.1007/BF00291707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2896620">Fujimori et al. (1988)</a> identified a missense mutation in the HPRT gene (I132M; <a href="/entry/308000#0001">308000.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896620" 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 male with severe precocious gout and uric acid nephrolithiasis, <a href="#2" class="mim-tip-reference" title="Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D. <strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong> J. Biol. Chem. 264: 520-525, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>]" pmid="2909537">Davidson et al. (1989)</a> identified a missense mutation in the HPRT gene (D201G; <a href="/entry/308000#0003">308000.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" 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 patient with recurrent acute renal failure from hyperuricemia, <a href="#7" class="mim-tip-reference" title="Srivastava, T., O'Neill, J. P., Dasouki, M., Simckes, A. M. <strong>Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.</strong> Am. J. Med. Genet. 108: 219-222, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891689</a>] [<a href="https://doi.org/10.1002/ajmg.10217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11891689">Srivastava et al. (2002)</a> identified a novel HPRT missense mutation (R48H; <a href="/entry/308000#0059">308000.0059</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891689" 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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Andres, A., Praga, M., Ruilope, L. M., Martinez, J. M., Millet, V. G., Bello, I., Rodicio, J. L.
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<strong>Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.</strong>
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Nephron 46: 179-181, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3600927" 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/10.1159/000184337" target="_blank">Full Text</a>]
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Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D.
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong>
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J. Biol. Chem. 264: 520-525, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fujimori, S., Hidaka, Y., Davidson, B. L., Palella, T. D., Kelley, W. N.
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<strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong>
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Hum. Genet. 79: 39-43, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896620" 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/BF00291707" target="_blank">Full Text</a>]
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Kelley, W. N., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E.
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<strong>A specific enzyme defect in gout associated with overproduction of uric acid.</strong>
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Proc. Nat. Acad. Sci. 57: 1735-1739, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4291947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4291947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4291947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P., Ceballos-Picot, I.
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<strong>Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.</strong>
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Molec. Genet. Metab. 127: 147-157, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31182398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31182398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31182398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McDonald, J. A., Kelley, W. N.
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<strong>Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.</strong>
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Science 171: 689-691, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4322125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4322125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4322125" 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/10.1126/science.171.3972.689" target="_blank">Full Text</a>]
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<a id="Srivastava2002" class="mim-anchor"></a>
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<p class="mim-text-font">
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Srivastava, T., O'Neill, J. P., Dasouki, M., Simckes, A. M.
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<strong>Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.</strong>
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Am. J. Med. Genet. 108: 219-222, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.10217" target="_blank">Full Text</a>]
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<a id="Yu1972" class="mim-anchor"></a>
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Yu, T.-F., Balis, M. E., Krenitsky, T. A., Dancis, J., Silvers, D. N., Elion, G. B., Gutman, A. B.
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<strong>Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.</strong>
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Ann. Intern. Med. 76: 255-264, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5009592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5009592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5009592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-76-2-255" target="_blank">Full Text</a>]
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Zoref-Shani, E., Feinstein, S., Frishberg, Y., Bromberg, Y., Sperling, O.
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<strong>Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.</strong>
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Biochim. Biophys. Acta 1500: 197-203, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10657589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10657589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10657589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0925-4439(99)00103-9" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/09/2020
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<span class="mim-text-font">
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Deborah L. Stone - updated : 4/11/2002
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<span class="mim-text-font">
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Ada Hamosh : 4/4/2001
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carol : 09/09/2020
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carol : 09/09/2020<br>alopez : 03/09/2016<br>carol : 3/28/2012<br>carol : 4/11/2002<br>carol : 4/11/2001<br>carol : 4/10/2001<br>mcapotos : 4/6/2001<br>mcapotos : 4/6/2001<br>carol : 4/4/2001
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<span class="mim-font">
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<strong>#</strong> 300323
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HYPERURICEMIA, HPRT-RELATED; HRH
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KELLEY-SEEGMILLER SYNDROME<br />
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GOUT, HPRT-RELATED<br />
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HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL<br />
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HPRT DEFICIENCY, PARTIAL<br />
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HPRT1 DEFICIENCY, PARTIAL
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<strong>SNOMEDCT:</strong> 238007004;
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<strong>ORPHA:</strong> 79233;
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<strong>DO:</strong> 0112127;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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Xq26.2-q26.3
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Hyperuricemia, HRPT-related
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300323
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X-linked recessive
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<span class="mim-font">
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3
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HPRT1
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<span class="mim-font">
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308000
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because HPRT-related hyperuricemia (HRH), also known as Kelley-Seegmiller syndrome, is caused by mutation in the HPRT gene (308000) that results in partial deficiency of hypoxanthine guanine phosphoribosyltransferase.</p>
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<strong>Description</strong>
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<p>Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000). </p>
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<strong>Clinical Features</strong>
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<p>In 5 male patients with gout, Kelley et al. (1967) found a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Two brothers in 1 family were 24 and 11 years old; three brothers in another family were 42, 49, and 55 years old. In the first family, nephrolithiasis began at age 6 or 7, followed in one by gouty arthritis at age 13. In the 3 brothers, acute gouty arthritis began between ages 20 and 31 and 2 had had recurrent nephrolithiasis. The 2 brothers of the first family had spinocerebellar derangement distinct from the neurologic disorder of the Lesch-Nyhan syndrome. The characteristics of the enzyme were the same in each family but different between families. The differences concerned relative activities for guanine and hypoxanthine and heat stability. </p><p>McDonald and Kelley (1971) presented evidence of genetic heterogeneity in the Lesch-Nyhan syndrome. In the patient they reported, HPRT showed altered kinetics. Among 425 cases of hyperuricemia with gout or uric acid stone or both, Yu et al. (1972) found 7 with partial HPRT deficiency and 5 of these were members of one family. </p><p>Andres et al. (1987) reported the case of a 12-year-old boy who presented with acute renal failure accompanied by a disproportionate increase of serum uric acid level and massive uric acid crystalluria. After alkalinization and allopurinol therapy, serum uric acid and renal function returned to normal. HPRT deficiency was found as the basis of the abnormality. </p><p>Zoref-Shani et al. (2000) reported a 4.5-year-old boy who was admitted to the hospital at the age of 3.5 years with acute renal failure due to uric acid nephropathy. A streptococcal throat infection and fever were present at the same time and may have been precipitating or contributing factors. The precise nature of the DNA change was not described. The authors stated that the underlying HPRT mutation was unique in that the specific activity in HPRT and erythrocyte and fibroblast lysates was normal, but the rate of uptake of hypoxanthine into nucleotides of intact cultured fibroblasts was markedly reduced (23% of normal). Other metabolic features of the mutation were described as well. With allopurinol treatment, the patient had had no further problems and was developing normally at 5 years of age. </p><p>Srivastava et al. (2002) reported the case of a 12-year-old boy who presented with recurrent acute renal failure from hyperuricemia and had no phenotypic features of Lesch-Nyhan syndrome. Acute infectious mononucleosis may have triggered the acute renal failure, and treatment with allopurinol prevented further episodes. Unlike the cells from patients with Lesch-Nyhan syndrome, the in vitro cultures of this patient's T lymphocytes did not proliferate in the presence of purine analog 6-thioguanine. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>Madeo et al. (2019) described the association between HPRT mutations and residual enzymatic activity in 76 French and Italian patients including 52 with LNS, 18 with the LNS neurologic variant (see 300322), and 6 with HRH. HPRT enzyme activity was measured in red blood cell lysates via a chromatographic assay using radiolabeled hypoxanthine. HPRT activity was significantly lower in LNS compared with attenuated variants and higher in HRH than in phenotypes with neurologic involvement. There was not a significant difference in residual enzyme activity between patients with LNS and the neurologic variant. </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>In 2 brothers with hyperuricemia and nephrolithiasis, Fujimori et al. (1988) identified a missense mutation in the HPRT gene (I132M; 308000.0001). </p><p>In a male with severe precocious gout and uric acid nephrolithiasis, Davidson et al. (1989) identified a missense mutation in the HPRT gene (D201G; 308000.0003). </p><p>In a patient with recurrent acute renal failure from hyperuricemia, Srivastava et al. (2002) identified a novel HPRT missense mutation (R48H; 308000.0059). </p>
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<strong>REFERENCES</strong>
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</span>
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<p />
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<p class="mim-text-font">
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Andres, A., Praga, M., Ruilope, L. M., Martinez, J. M., Millet, V. G., Bello, I., Rodicio, J. L.
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<strong>Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.</strong>
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Nephron 46: 179-181, 1987.
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[PubMed: 3600927]
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[Full Text: https://doi.org/10.1159/000184337]
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<p class="mim-text-font">
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Davidson, B. L., Pashmforoush, M., Kelley, W. N., Palella, T. D.
|
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<strong>Human hypoxanthine-guanine phosphoribosyltransferase deficiency: the molecular defect in a patient with gout (HPRT-Ashville).</strong>
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J. Biol. Chem. 264: 520-525, 1989.
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[PubMed: 2909537]
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<p class="mim-text-font">
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Fujimori, S., Hidaka, Y., Davidson, B. L., Palella, T. D., Kelley, W. N.
|
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<strong>Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor).</strong>
|
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Hum. Genet. 79: 39-43, 1988.
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[PubMed: 2896620]
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[Full Text: https://doi.org/10.1007/BF00291707]
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<p class="mim-text-font">
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Kelley, W. N., Rosenbloom, F. M., Henderson, J. F., Seegmiller, J. E.
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<strong>A specific enzyme defect in gout associated with overproduction of uric acid.</strong>
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Madeo, A., Di Rocco, M., Brassier, A., Bahi-Buisson, N., De Lonlay, P., Ceballos-Picot, I.
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<strong>Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.</strong>
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McDonald, J. A., Kelley, W. N.
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<strong>Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.</strong>
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Science 171: 689-691, 1971.
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Srivastava, T., O'Neill, J. P., Dasouki, M., Simckes, A. M.
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<strong>Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.</strong>
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Yu, T.-F., Balis, M. E., Krenitsky, T. A., Dancis, J., Silvers, D. N., Elion, G. B., Gutman, A. B.
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[PubMed: 5009592]
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Zoref-Shani, E., Feinstein, S., Frishberg, Y., Bromberg, Y., Sperling, O.
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<strong>Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.</strong>
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[PubMed: 10657589]
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[Full Text: https://doi.org/10.1016/s0925-4439(99)00103-9]
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