2463 lines
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Entry
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- #219900 - CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
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- OMIM
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<span class="h4">#219900</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/219900"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div style="display: table-cell;">External Links</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE" 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=11&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cystinosis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23024&Typ=Pat" title="Juvenile nephropathic cystinosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Juvenile nephropathic cyst… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1400/" 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/8698" 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/cystinosis" 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=219900[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=213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Cystinosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411634" title="Juvenile nephropathic cystinosis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Juvenile nephropathic cyst…</a></div>
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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 id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1064" 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/219900" 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:1064" 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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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:219900" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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> 22830006<br />
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<strong>ORPHA:</strong> 213, 411634<br />
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<strong>DO:</strong> 1064<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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219900
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</span>
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</span>
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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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CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
|
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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CYSTINOSIS, INTERMEDIATE
|
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</span>
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</h4>
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/62?start=-3&limit=10&highlight=62">
|
|
17p13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cystinosis, late-onset juvenile or adolescent nephropathic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/219900"> 219900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CTNS
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606272"> 606272 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/219900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/219900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/219900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal stature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846844</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Corneal crystals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000531</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000531</a>]</span><br /> -
|
|
Retinopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29555009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29555009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000479</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- End stage renal disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Rickets <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41345002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41345002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E55.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002748</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
|
|
Elevated white blood cell cystine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857392</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset of symptoms usually between 12-15 years<br /> -
|
|
Three type of cystinosis are recognized - infantile nephropathic (<a href="/entry/219800">219800</a>), juvenile or adolescent nephropathic (<a href="/entry/219900">219900</a>), and adult nonnephropathic (<a href="/entry/219750">219750</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
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<span class="h5 mim-font">
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- Caused by mutation in the cystinosis gene (CTNS, <a href="/entry/606272#0008">606272.0008</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because adolescent nephropathic cystinosis is caused by homozygous or compound heterozygous mutation in the CTNS gene (<a href="/entry/606272">606272</a>), which encodes cystinosin, on chromosome 17p13.</p></div>
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<div class="mim-changed mim-change"><p>See <a href="/entry/219800">219800</a> for general information about nephropathic cystinosis and the infantile type of the disorder.</p></div>
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<p>Adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. White cells show high cystine content in heterozygotes for this form of cystinosis, just as they do in infantile cystinosis. <a href="#6" class="mim-tip-reference" title="Spear, G. S., Slusser, R. J., Shulman, J. D., Alexander, F. <strong>Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant.</strong> Johns Hopkins Med. J. 129: 83-99, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5567604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5567604</a>]" pmid="5567604">Spear et al. (1971)</a> described glomerular changes in renal biopsies from a case of late-onset nephropathic cystinosis. Clinically the disorder shows a slowly progressive glomerular insufficiency rather than the prominent Fanconi syndrome, electrolyte and water disturbances, growth arrest, and rickets typical of infantile cystinosis. The patient was the only affected person in the family and the parents were not related (as one would expect if juvenile cystinosis is the genetic compound of infantile cystinosis and adult cystinosis). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5567604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Attard, M., Jean, G., Forestier, L., Cherqui, S., van't Hoff, W., Broyer, M., Antignac, C., Town, M. <strong>Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.</strong> Hum. Molec. Genet. 8: 2507-2514, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556299</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556299">Attard et al. (1999)</a> identified a mutation in the CTNS gene (<a href="/entry/606272#0008">606272.0008</a>) in a patient with late-onset juvenile nephropathic cystinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556299" 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="Thoene, J., Lemons, R., Anikster, Y., Mullet, J., Paelicke, K., Lucero, C., Gahl, W., Schneider, J., Shu, S. G., Campbell, H. T. <strong>Mutations of CTNS causing intermediate cystinosis.</strong> Molec. Genet. Metab. 67: 283-293, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444339</a>] [<a href="https://doi.org/10.1006/mgme.1999.2876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10444339">Thoene et al. (1999)</a> described 2 sibs in Taiwan with intermediate cystinosis who had linear growth and weight gain within 2 standard deviations of the mean for their ethnic group until the ages of 13 and 14 years when their plasma creatinine concentrations were 1.2 mg per deciliter and 3.3 mg per deciliter, respectively. They were found to be homozygous for a missense mutation in the CTNS gene substitution of lysine for the conserved asparagine at position 323 (N323K; <a href="/entry/606272#0016">606272.0016</a>). Presumably, this mutation allowed for some residual cystine transport, accounting for the mild clinical presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444339" 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 2 unrelated Spanish patients with juvenile-onset cystinosis, <a href="#4" class="mim-tip-reference" title="Macias-Vidal, J., Rodes, M., Hernandez-Perez, J. M., Vilaseca, M. A., Coll, M. J. <strong>Analysis of the CTNS gene in 32 cystinosis patients from Spain. (Letter)</strong> Clin. Genet. 76: 486-489, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863563</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01222.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19863563">Macias-Vidal et al. (2009)</a> identified compound heterozygosity for a missense mutation (S139F; <a href="/entry/606272#0018">606272.0018</a>) and truncating mutations (<a href="/entry/606272#0004">606272.0004</a> and <a href="/entry/606272#0005">606272.0005</a>, respectively). The S139F mutation had previously been identified in a patient with 'nonclassic' cystinosis (see <a href="/entry/219800">219800</a>), with onset before age 7 years but a milder course of disease than the infantile nephropathic form, by <a href="#1" class="mim-tip-reference" title="Attard, M., Jean, G., Forestier, L., Cherqui, S., van't Hoff, W., Broyer, M., Antignac, C., Town, M. <strong>Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.</strong> Hum. Molec. Genet. 8: 2507-2514, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556299</a>] [<a href="https://doi.org/10.1093/hmg/8.13.2507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10556299">Attard et al. (1999)</a>, who suggested that the mutation might allow production of functional protein or be located in a region of cystinosin that was not functionally important. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19863563+10556299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Goldman1971" class="mim-tip-reference" title="Goldman, H., Scriver, C. R., Aaron, K., Delvin, E., Canlas, Z. <strong>Adolescent cystinosis: comparisons with infantile and adult forms.</strong> Pediatrics 47: 979-988, 1971.">Goldman et al. (1971)</a>; <a href="#Langman1985" class="mim-tip-reference" title="Langman, C. B., Moore, E. S., Thoene, J. G., Schneider, J. A. <strong>Renal failure in a sibship with late-onset cystinosis.</strong> J. Pediat. 107: 755-756, 1985.">Langman et al. (1985)</a>; <a href="#McDowell1995" class="mim-tip-reference" title="McDowell, G. A., Gahl, W. A., Stephenson, L. A., Schneider, J. A., Weissenbach, J., Polymeropoulos, M. H., Town, M. M., van't Hoff, W., Farrall, M., Mathew, C. G. <strong>Linkage of the gene for cystinosis to markers on the short arm of chromosome 17.</strong> Nature Genet. 10: 246-248, 1995.">McDowell et al. (1995)</a>
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Attard, M., Jean, G., Forestier, L., Cherqui, S., van't Hoff, W., Broyer, M., Antignac, C., Town, M.
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<strong>Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.</strong>
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Hum. Molec. Genet. 8: 2507-2514, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.13.2507" target="_blank">Full Text</a>]
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Goldman, H., Scriver, C. R., Aaron, K., Delvin, E., Canlas, Z.
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<strong>Adolescent cystinosis: comparisons with infantile and adult forms.</strong>
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Pediatrics 47: 979-988, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5141767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5141767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5141767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Langman, C. B., Moore, E. S., Thoene, J. G., Schneider, J. A.
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<strong>Renal failure in a sibship with late-onset cystinosis.</strong>
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J. Pediat. 107: 755-756, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4056976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4056976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4056976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(85)80410-8" target="_blank">Full Text</a>]
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Macias-Vidal, J., Rodes, M., Hernandez-Perez, J. M., Vilaseca, M. A., Coll, M. J.
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<strong>Analysis of the CTNS gene in 32 cystinosis patients from Spain. (Letter)</strong>
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Clin. Genet. 76: 486-489, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19863563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19863563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19863563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01222.x" target="_blank">Full Text</a>]
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McDowell, G. A., Gahl, W. A., Stephenson, L. A., Schneider, J. A., Weissenbach, J., Polymeropoulos, M. H., Town, M. M., van't Hoff, W., Farrall, M., Mathew, C. G.
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<strong>Linkage of the gene for cystinosis to markers on the short arm of chromosome 17.</strong>
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Nature Genet. 10: 246-248, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7663525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7663525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7663525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0695-246" target="_blank">Full Text</a>]
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Spear, G. S., Slusser, R. J., Shulman, J. D., Alexander, F.
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<strong>Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant.</strong>
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Johns Hopkins Med. J. 129: 83-99, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5567604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5567604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5567604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Thoene, J., Lemons, R., Anikster, Y., Mullet, J., Paelicke, K., Lucero, C., Gahl, W., Schneider, J., Shu, S. G., Campbell, H. T.
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<strong>Mutations of CTNS causing intermediate cystinosis.</strong>
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Molec. Genet. Metab. 67: 283-293, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10444339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10444339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10444339" 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/10.1006/mgme.1999.2876" 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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Marla J. F. O'Neill - updated : 1/13/2010
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<span class="mim-text-font">
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Victor A. McKusick - updated : 9/6/2002<br>Ada Hamosh - updated : 9/25/2001
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 01/14/2025
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carol : 11/22/2016<br>wwang : 01/26/2010<br>terry : 1/13/2010<br>terry : 4/18/2005<br>tkritzer : 10/15/2004<br>tkritzer : 9/6/2002<br>carol : 10/9/2001<br>carol : 10/1/2001<br>carol : 9/25/2001<br>carol : 9/25/2001<br>mark : 6/1/1995<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>carol : 2/7/1991<br>carol : 1/8/1991<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 219900
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CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
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<em>Alternative titles; symbols</em>
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CYSTINOSIS, INTERMEDIATE
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<strong>SNOMEDCT:</strong> 22830006;
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<strong>ORPHA:</strong> 213, 411634;
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<strong>DO:</strong> 1064;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17p13.2
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<span class="mim-font">
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Cystinosis, late-onset juvenile or adolescent nephropathic
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219900
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Autosomal recessive
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<span class="mim-font">
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3
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CTNS
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606272
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because adolescent nephropathic cystinosis is caused by homozygous or compound heterozygous mutation in the CTNS gene (606272), which encodes cystinosin, on chromosome 17p13.</p><p>See 219800 for general information about nephropathic cystinosis and the infantile type of the disorder.</p>
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<strong>Clinical Features</strong>
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<p>Adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. White cells show high cystine content in heterozygotes for this form of cystinosis, just as they do in infantile cystinosis. Spear et al. (1971) described glomerular changes in renal biopsies from a case of late-onset nephropathic cystinosis. Clinically the disorder shows a slowly progressive glomerular insufficiency rather than the prominent Fanconi syndrome, electrolyte and water disturbances, growth arrest, and rickets typical of infantile cystinosis. The patient was the only affected person in the family and the parents were not related (as one would expect if juvenile cystinosis is the genetic compound of infantile cystinosis and adult cystinosis). </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Attard et al. (1999) identified a mutation in the CTNS gene (606272.0008) in a patient with late-onset juvenile nephropathic cystinosis. </p><p>Thoene et al. (1999) described 2 sibs in Taiwan with intermediate cystinosis who had linear growth and weight gain within 2 standard deviations of the mean for their ethnic group until the ages of 13 and 14 years when their plasma creatinine concentrations were 1.2 mg per deciliter and 3.3 mg per deciliter, respectively. They were found to be homozygous for a missense mutation in the CTNS gene substitution of lysine for the conserved asparagine at position 323 (N323K; 606272.0016). Presumably, this mutation allowed for some residual cystine transport, accounting for the mild clinical presentation. </p><p>In 2 unrelated Spanish patients with juvenile-onset cystinosis, Macias-Vidal et al. (2009) identified compound heterozygosity for a missense mutation (S139F; 606272.0018) and truncating mutations (606272.0004 and 606272.0005, respectively). The S139F mutation had previously been identified in a patient with 'nonclassic' cystinosis (see 219800), with onset before age 7 years but a milder course of disease than the infantile nephropathic form, by Attard et al. (1999), who suggested that the mutation might allow production of functional protein or be located in a region of cystinosin that was not functionally important. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Goldman et al. (1971); Langman et al. (1985); McDowell et al. (1995)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<p class="mim-text-font">
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Attard, M., Jean, G., Forestier, L., Cherqui, S., van't Hoff, W., Broyer, M., Antignac, C., Town, M.
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<strong>Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.</strong>
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Hum. Molec. Genet. 8: 2507-2514, 1999.
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[PubMed: 10556299]
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[Full Text: https://doi.org/10.1093/hmg/8.13.2507]
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Goldman, H., Scriver, C. R., Aaron, K., Delvin, E., Canlas, Z.
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<strong>Adolescent cystinosis: comparisons with infantile and adult forms.</strong>
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Pediatrics 47: 979-988, 1971.
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[PubMed: 5141767]
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Langman, C. B., Moore, E. S., Thoene, J. G., Schneider, J. A.
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<strong>Renal failure in a sibship with late-onset cystinosis.</strong>
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J. Pediat. 107: 755-756, 1985.
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[PubMed: 4056976]
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[Full Text: https://doi.org/10.1016/s0022-3476(85)80410-8]
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Macias-Vidal, J., Rodes, M., Hernandez-Perez, J. M., Vilaseca, M. A., Coll, M. J.
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<strong>Analysis of the CTNS gene in 32 cystinosis patients from Spain. (Letter)</strong>
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Clin. Genet. 76: 486-489, 2009.
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[PubMed: 19863563]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01222.x]
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<p class="mim-text-font">
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McDowell, G. A., Gahl, W. A., Stephenson, L. A., Schneider, J. A., Weissenbach, J., Polymeropoulos, M. H., Town, M. M., van't Hoff, W., Farrall, M., Mathew, C. G.
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<strong>Linkage of the gene for cystinosis to markers on the short arm of chromosome 17.</strong>
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Nature Genet. 10: 246-248, 1995.
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[PubMed: 7663525]
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[Full Text: https://doi.org/10.1038/ng0695-246]
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<p class="mim-text-font">
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Spear, G. S., Slusser, R. J., Shulman, J. D., Alexander, F.
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<strong>Polykaryocytosis of the visceral glomerular epithelium in cystinosis with description of an unusual clinical variant.</strong>
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Johns Hopkins Med. J. 129: 83-99, 1971.
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[PubMed: 5567604]
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<p class="mim-text-font">
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Thoene, J., Lemons, R., Anikster, Y., Mullet, J., Paelicke, K., Lucero, C., Gahl, W., Schneider, J., Shu, S. G., Campbell, H. T.
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<strong>Mutations of CTNS causing intermediate cystinosis.</strong>
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Molec. Genet. Metab. 67: 283-293, 1999.
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[PubMed: 10444339]
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[Full Text: https://doi.org/10.1006/mgme.1999.2876]
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/13/2010<br>Victor A. McKusick - updated : 9/6/2002<br>Ada Hamosh - updated : 9/25/2001
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/14/2025<br>carol : 11/22/2016<br>wwang : 01/26/2010<br>terry : 1/13/2010<br>terry : 4/18/2005<br>tkritzer : 10/15/2004<br>tkritzer : 9/6/2002<br>carol : 10/9/2001<br>carol : 10/1/2001<br>carol : 9/25/2001<br>carol : 9/25/2001<br>mark : 6/1/1995<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>carol : 2/7/1991<br>carol : 1/8/1991<br>supermim : 3/20/1990
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