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<title>
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Entry
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- #134600 - FANCONI RENOTUBULAR SYNDROME 1; FRTS1
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- OMIM
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<span class="h4">#134600</span>
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<a href="#inheritance">Inheritance</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080757" 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/134600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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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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</span>
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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> 236468006<br />
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<strong>ORPHA:</strong> 3337<br />
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<strong>DO:</strong> 0080757<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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134600
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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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FANCONI RENOTUBULAR SYNDROME 1; FRTS1
|
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
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FANCONI RENOTUBULAR SYNDROME; FRTS<br />
|
|
RENAL FANCONI SYNDROME; RFS<br />
|
|
ADULT FANCONI SYNDROME<br />
|
|
FANCONI SYNDROME WITHOUT CYSTINOSIS<br />
|
|
LUDER-SHELDON SYNDROME
|
|
</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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<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/15/180?start=-3&limit=10&highlight=180">
|
|
15q21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Fanconi renotubular syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134600"> 134600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
|
|
GATM
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602360"> 602360 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/134600" 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">
|
|
|
|
<a href="/phenotypicSeries/PS134600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/134600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/134600" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</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">
|
|
|
|
- Short stature (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</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">
|
|
|
|
- Proximal renal tubule defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000114</a>]</span><br /> -
|
|
Renal tubular acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1776003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1776003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N25.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N25.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span><br /> -
|
|
Impaired glomerular filtration rate (GFR) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393051</a>]</span><br /> -
|
|
Fibrosis seen on renal biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394620</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263756000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263756000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112674009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112674009</a>]</span><br /> -
|
|
Progressive renal failure <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0748318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0748318</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012622</a>]</span><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 (in some patients) <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 /> -
|
|
Osteomalacia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4598005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4598005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/268.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">268.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887650</a>, <a href="https://bioportal.bioontology.org/search?q=C0029442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002749</a>]</span><br /> -
|
|
Osteopenia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br /> -
|
|
Bone pain (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12584003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12584003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</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">
|
|
<strong> MUSCLE, SOFT TISSUES </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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|
|
- Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
|
|
Muscle cramps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45352006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45352006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55300003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55300003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.83</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037763</a>, <a href="https://bioportal.bioontology.org/search?q=C0026821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026821</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</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>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Aminoaciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35912001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35912001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003355</a>]</span><br /> -
|
|
Glucosuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45154002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45154002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003076</a>]</span><br /> -
|
|
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 /> -
|
|
Phosphaturia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22450000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22450000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85487008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85487008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268079&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268079</a>, <a href="https://bioportal.bioontology.org/search?q=C0282201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0282201</a>, <a href="https://bioportal.bioontology.org/search?q=C0948023&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948023</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003109</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003109</a>]</span><br /> -
|
|
Hypophosphatemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4996001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4996001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595888</a>, <a href="https://bioportal.bioontology.org/search?q=C0085682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span><br /> -
|
|
Hypokalemia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166690008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166690008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43339004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43339004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span><br />
|
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</span>
|
|
</div>
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|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset early in the first decade<br /> -
|
|
Later onset has been reported<br /> -
|
|
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Some patients may require renal transplantation<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the L-arginine:glycine amidinotransferase gene (GATM, <a href="/entry/602360#0006">602360.0006</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Fanconi renotubular syndrome
|
|
- <a href="/phenotypicSeries/PS134600">PS134600</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/925?start=-3&limit=10&highlight=925"> 3q27.2 </a>
|
|
|
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</span>
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<a href="/entry/616026"> Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that Fanconi renotubular syndrome-1 (FRTS1) is caused by heterozygous mutation in the GATM gene (<a href="/entry/602360">602360</a>) on chromosome 15q21.</p>
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<p>Fanconi renotubular syndrome-1 (FRTS1) is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by <a href="#9" class="mim-tip-reference" title="Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. <strong>Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.</strong> Am. J. Hum. Genet. 68: 264-268, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090339">Lichter-Konecki et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11090339" 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><strong><em>Genetic Heterogeneity of Fanconi Renotubular Syndrome</em></strong></p><p>
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See also FRTS2 (<a href="/entry/613388">613388</a>), caused by mutation in the SLC34A1 gene (<a href="/entry/182309">182309</a>) on chromosome 5q35; FRTS3 (<a href="/entry/615605">615605</a>), caused by mutation in the EHHADH gene (<a href="/entry/607037">607037</a>) on chromosome 3q27; FRTS4 (<a href="/entry/616026">616026</a>), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (<a href="/entry/600281">600281</a>) on chromosome 20q13; and FRTS5 (<a href="/entry/618913">618913</a>), caused by mutation in the NDUFAF6 gene (<a href="/entry/612392">612392</a>) on chromosome 8q22.</p>
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<p><a href="#15" class="mim-tip-reference" title="Smith, R., Lindenbaum, R. H., Walton, R. J. <strong>Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance: possible relationship with diabetes mellitus.</strong> Quart. J. Med. 45: 387-400, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/948541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">948541</a>]" pmid="948541">Smith et al. (1976)</a> described a kindred in which Fanconi syndrome occurred in 4 successive generations and was possibly associated with diabetes mellitus. The proband had hypophosphatemia, renal glycosuria, proteinuria, and generalized amino aciduria. At the age of 22, she developed symptoms of osteomalacia, which responded to treatment with oral phosphate. Her father, who died from diabetes mellitus, had been similarly affected. A sister was affected and at least 7 persons in 3 preceding generations had crippling bone disease and profound muscle weakness of early adult onset. <a href="#7" class="mim-tip-reference" title="Harrison, N. A., Bateman, J. M., Ledingham, J. G. G., Smith, R. <strong>Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.</strong> Clin. Nephrol. 35: 148-150, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1649711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1649711</a>]" pmid="1649711">Harrison et al. (1991)</a> reported follow-up of this family, noting that the proband and her sister developed renal glomerular failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1649711+948541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B. <strong>The adult presenting idiopathic Fanconi syndrome.</strong> J. Inherit. Metab. Dis. 4: 211-215, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796773</a>] [<a href="https://doi.org/10.1007/BF02263654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796773">Brenton et al. (1981)</a> restudied the original family of Dent and Harris (<a href="#4" class="mim-tip-reference" title="Dent, C. E., Harris, H. <strong>The genetics of 'cystinuria'.</strong> Ann. Eugen. 16: 60-87, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24541401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24541401</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1951.tb02459.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24541401">1951</a>, <a href="#5" class="mim-tip-reference" title="Dent, C. E., Harris, H. <strong>Hereditary form of rickets and osteomalacia.</strong> J. Bone Joint Surg. Br. 38: 204-226, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13295329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13295329</a>] [<a href="https://doi.org/10.1302/0301-620X.38B1.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13295329">1956</a>) in which 4 of 5 sibs had Fanconi renotubular syndrome. The 30-year follow-up also showed that lactic aciduria and tubular proteinuria were probably the earliest manifestations of the disorder in childhood, with glycosuria and amino aciduria developing in the second decade, and osteomalacia from the start of the fourth decade. Glomerular function deteriorated slowly, but was compatible with a normal life span. Although affected sibs suggested autosomal recessive inheritance, <a href="#3" class="mim-tip-reference" title="Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B. <strong>The adult presenting idiopathic Fanconi syndrome.</strong> J. Inherit. Metab. Dis. 4: 211-215, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6796773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6796773</a>] [<a href="https://doi.org/10.1007/BF02263654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6796773">Brenton et al. (1981)</a> concluded that the inheritance was undoubtedly autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24541401+13295329+6796773" 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="#11" class="mim-tip-reference" title="Luder, J., Sheldon, W. <strong>A familial tubular absorption defect of glucose and amino-acids.</strong> Arch. Dis. Child. 30: 160-164, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14377624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14377624</a>] [<a href="https://doi.org/10.1136/adc.30.150.160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14377624">Luder and Sheldon (1955)</a> and <a href="#14" class="mim-tip-reference" title="Sheldon, W., Luder, J., Webb, B. <strong>A familial tubular absorption defect of glucose and amino acids.</strong> Arch. Dis. Child. 36: 90-95, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21032379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21032379</a>] [<a href="https://doi.org/10.1136/adc.36.185.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21032379">Sheldon et al. (1961)</a> reported a pair of female twins who presented in early childhood with a renal tubular absorption defect. They had generalized aminoaciduria with loss of glucose and phosphate. One of the twins developed rickets in childhood, but responded well to vitamin D and phosphate treatment. Family history revealed that their father and paternal grandfather were mildly affected. A follow-up by <a href="#12" class="mim-tip-reference" title="Patrick, A., Cameron, J. S., Ogg, C. S. <strong>A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.</strong> Clin. Nephrol. 16: 289-292, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7032774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7032774</a>]" pmid="7032774">Patrick et al. (1981)</a> showed that 3 members had developed renal failure with renal transplant in 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7032774+21032379+14377624" 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="Friedman, A. L., Trygstad, C. W., Chesney, R. W. <strong>Autosomal dominant Fanconi syndrome with early renal failure.</strong> Am. J. Med. Genet. 2: 225-232, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/263440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">263440</a>] [<a href="https://doi.org/10.1002/ajmg.1320020303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="263440">Friedman et al. (1978)</a> observed the Fanconi syndrome in father and son from a large family in Wisconsin; a unique feature was progression to early renal failure, requiring renal transplantation in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=263440" 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="#18" class="mim-tip-reference" title="Wen, S.-F., Friedman, A. L., Oberley, T. D. <strong>Two case studies from a family with primary Fanconi syndrome.</strong> Am. J. Kidney Dis. 13: 240-246, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2919605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2919605</a>] [<a href="https://doi.org/10.1016/s0272-6386(89)80059-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2919605">Wen et al. (1989)</a> and <a href="#9" class="mim-tip-reference" title="Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. <strong>Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.</strong> Am. J. Hum. Genet. 68: 264-268, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090339">Lichter-Konecki et al. (2001)</a> reported a large family from central Wisconsin with autosomal dominant renal Fanconi syndrome. Affected individuals had variable expressivity of tubular reabsorptive defects. Most of the affected family members developed polyuria and loss of proximal tubular function during the second decade of life and demonstrated significant renal insufficiency by the third decade. The 10 affected family members whose genomes were analyzed had been diagnosed with renal Fanconi syndrome by the following diagnostic criteria: a tubular reabsorption of phosphorus (calculated as maximum rate of tubular absorption of phosphate/glomerular filtration rate) less than 2.5 mg/dl, aminoaciduria, and glucosuria with normal serum glucose. Renal biopsy in 1 patient showed tubular atrophy, interstitial fibrosis, and nephrocalcinosis. At least 1 patient had osteosclerosis of the vertebral bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11090339+2919605" 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="#10" class="mim-tip-reference" title="Long, W. S., Seashore, M. R., Siegel, N. J., Bia, M. J. <strong>Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.</strong> Yale J. Biol. Med. 63: 15-28, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2356624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2356624</a>]" pmid="2356624">Long et al. (1990)</a> reported a man with glycosuria, proteinuria, aminoaciduria, phosphaturia, renal acidosis, and generalized bone demineralization. Renal biopsy showed swollen tubular cells with granular vacuolated cytoplasm, flattered epithelial cells, and interstitial fibrosis. Bone biopsy showed osteomalacia. The disorder was progressive, and the patient developed azotemia with progressive renal failure. His young son was similarly affected, suggesting autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2356624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of renal Fanconi syndrome in the family reported by <a href="#18" class="mim-tip-reference" title="Wen, S.-F., Friedman, A. L., Oberley, T. D. <strong>Two case studies from a family with primary Fanconi syndrome.</strong> Am. J. Kidney Dis. 13: 240-246, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2919605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2919605</a>] [<a href="https://doi.org/10.1016/s0272-6386(89)80059-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2919605">Wen et al. (1989)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2919605" 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="#16" class="mim-tip-reference" title="Tolaymat, A., Sakarcan, A., Neiberger, R. <strong>Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.</strong> J. Am. Soc. Nephrol. 2: 1310-1317, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1627757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1627757</a>] [<a href="https://doi.org/10.1681/ASN.V281310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1627757">Tolaymat et al. (1992)</a> stated that 10 families with Fanconi syndrome had been described, of which 6 had an autosomal dominant mode of transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1627757" 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>By a genomewide screen of 24 members of the family with renal Fanconi syndrome reported by <a href="#18" class="mim-tip-reference" title="Wen, S.-F., Friedman, A. L., Oberley, T. D. <strong>Two case studies from a family with primary Fanconi syndrome.</strong> Am. J. Kidney Dis. 13: 240-246, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2919605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2919605</a>] [<a href="https://doi.org/10.1016/s0272-6386(89)80059-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2919605">Wen et al. (1989)</a>, <a href="#9" class="mim-tip-reference" title="Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. <strong>Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.</strong> Am. J. Hum. Genet. 68: 264-268, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090339">Lichter-Konecki et al. (2001)</a> demonstrated linkage of the disorder to chromosome 15q15.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11090339+2919605" 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 28 affected members from 5 unrelated families with FRTS1, <a href="#13" class="mim-tip-reference" title="Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., and 42 others. <strong>Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure.</strong> J. Am. Soc. Nephrol. 29: 1849-1858, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29654216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29654216</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29654216[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1681/ASN.2017111179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29654216">Reichold et al. (2018)</a> identified 4 different heterozygous missense mutations at highly conserved residues in the GATM gene (P320S, <a href="/entry/602360#0006">602360.0006</a>; T336A, <a href="/entry/602360#0007">602360.0007</a>; T336I, <a href="/entry/602360#0008">602360.0008</a>; and P34L, <a href="/entry/602360#0009">602360.0009</a>). Several of the families had previously been reported (e.g., <a href="#14" class="mim-tip-reference" title="Sheldon, W., Luder, J., Webb, B. <strong>A familial tubular absorption defect of glucose and amino acids.</strong> Arch. Dis. Child. 36: 90-95, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21032379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21032379</a>] [<a href="https://doi.org/10.1136/adc.36.185.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21032379">Sheldon et al., 1961</a>, <a href="#7" class="mim-tip-reference" title="Harrison, N. A., Bateman, J. M., Ledingham, J. G. G., Smith, R. <strong>Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.</strong> Clin. Nephrol. 35: 148-150, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1649711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1649711</a>]" pmid="1649711">Harrison et al., 1991</a>, <a href="#10" class="mim-tip-reference" title="Long, W. S., Seashore, M. R., Siegel, N. J., Bia, M. J. <strong>Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.</strong> Yale J. Biol. Med. 63: 15-28, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2356624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2356624</a>]" pmid="2356624">Long et al., 1990</a>, <a href="#9" class="mim-tip-reference" title="Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S. <strong>Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.</strong> Am. J. Hum. Genet. 68: 264-268, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11090339[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090339">Lichter-Konecki et al., 2001</a>). The mutations, which were found by a combination of linkage analysis and candidate gene sequencing, next-generation gene sequencing, and exome sequencing, were confirmed by Sanger sequencing; the variants segregated with the disorder in all families. In silico modeling suggested that the mutations may adversely affect protein folding and possibly predispose the mutant protein to aggregation. Overexpression of the mutations in renal proximal tubule cells resulted in abnormal and elongated mitochondria containing GATM-positive fibrillary aggregates, similar to the deposits observed in the proximal tubules of patient renal biopsies. Cells transfected with the T336A mutation showed decreased mitochondrial turnover rate, increased reactive oxygen species (ROS), activation of the inflammasome, including elevated IL18 (<a href="/entry/600953">600953</a>), increased levels of fibronectin and actin mRNA, and increased cell death compared to controls. These findings provided a mechanistic link between kidney fibrosis and progressive renal failure observed in the patients. Examination of Gatm-null mice showed no evidence of aminoaciduria or glycosuria, consistent with no effect on renal proximal tubular function. However, treatment of rats with oral creatine reduced renal Gatm expression and protein levels, suggesting that it could be a possible intervention to suppress the endogenous production of mutant GATM and dampen the formation of deleterious mitochondrial deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1649711+2356624+11090339+29654216+21032379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bovee, K. C., Joyce, T., Reynolds, R., Segal, S. <strong>Spontaneous Fanconi syndrome in the dog.</strong> Metabolism 27: 45-52, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/619225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">619225</a>] [<a href="https://doi.org/10.1016/0026-0495(78)90122-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="619225">Bovee et al. (1978)</a> demonstrated a presumably hereditary Fanconi syndrome in dogs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=619225" 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="Ben-Ishay, D., Dreyfuss, F., Ullmann, T. D. <strong>Fanconi syndrome with hypouricemia in an adult: family study.</strong> Am. J. Med. 31: 793-800, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867012</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90163-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13867012">Ben-Ishay et al. (1961)</a> and <a href="#8" class="mim-tip-reference" title="Hunt, D. D., Stearns, G., McKinley, J. B., Froning, E., Hicks, P., Bonfiglio, M. <strong>Long-term study of a family with Fanconi syndrome without cystinosis (Detoni-Debre-Fanconi syndrome).</strong> Am. J. Med. 40: 492-510, 1966."None>Hunt et al. (1966)</a> reported pedigrees consistent with autosomal dominant inheritance of the Fanconi renotubular syndrome. In the family of <a href="#8" class="mim-tip-reference" title="Hunt, D. D., Stearns, G., McKinley, J. B., Froning, E., Hicks, P., Bonfiglio, M. <strong>Long-term study of a family with Fanconi syndrome without cystinosis (Detoni-Debre-Fanconi syndrome).</strong> Am. J. Med. 40: 492-510, 1966."None>Hunt et al. (1966)</a>, a mother and son had retarded growth, rickets, hypophosphatemia, hypokalemia, acidosis, amino aciduria, proteinuria, and glycosuria, whereas 6 relatives had amino aciduria but no bone disturbance. Autopsy and biopsies showed no cystine deposits in tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13867012" 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="#Wallis1957" class="mim-tip-reference" title="Wallis, L. A., Engle, R. L., Jr. <strong>The adult Fanconi syndrome: II. Review of eighteen cases.</strong> Am. J. Med. 22: 13-23, 1957.">Wallis and Engle (1957)</a>
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<a id="Ben-Ishay1961" class="mim-anchor"></a>
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Ben-Ishay, D., Dreyfuss, F., Ullmann, T. D.
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<strong>Fanconi syndrome with hypouricemia in an adult: family study.</strong>
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[<a href="https://doi.org/10.1016/0002-9343(61)90163-2" target="_blank">Full Text</a>]
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Bovee, K. C., Joyce, T., Reynolds, R., Segal, S.
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<strong>Spontaneous Fanconi syndrome in the dog.</strong>
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Metabolism 27: 45-52, 1978.
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[<a href="https://doi.org/10.1016/0026-0495(78)90122-1" target="_blank">Full Text</a>]
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Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B.
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<strong>The adult presenting idiopathic Fanconi syndrome.</strong>
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[<a href="https://doi.org/10.1007/BF02263654" target="_blank">Full Text</a>]
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Dent, C. E., Harris, H.
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<strong>The genetics of 'cystinuria'.</strong>
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Ann. Eugen. 16: 60-87, 1951.
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[<a href="https://doi.org/10.1111/j.1469-1809.1951.tb02459.x" target="_blank">Full Text</a>]
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Dent, C. E., Harris, H.
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<strong>Hereditary form of rickets and osteomalacia.</strong>
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J. Bone Joint Surg. Br. 38: 204-226, 1956.
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[<a href="https://doi.org/10.1302/0301-620X.38B1.204" target="_blank">Full Text</a>]
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Friedman, A. L., Trygstad, C. W., Chesney, R. W.
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<strong>Autosomal dominant Fanconi syndrome with early renal failure.</strong>
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Am. J. Med. Genet. 2: 225-232, 1978.
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[<a href="https://doi.org/10.1002/ajmg.1320020303" target="_blank">Full Text</a>]
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<strong>Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.</strong>
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Hunt, D. D., Stearns, G., McKinley, J. B., Froning, E., Hicks, P., Bonfiglio, M.
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<strong>Long-term study of a family with Fanconi syndrome without cystinosis (Detoni-Debre-Fanconi syndrome).</strong>
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<strong>Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.</strong>
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[<a href="https://doi.org/10.1086/316923" target="_blank">Full Text</a>]
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<strong>Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.</strong>
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<strong>A familial tubular absorption defect of glucose and amino-acids.</strong>
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Arch. Dis. Child. 30: 160-164, 1955.
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[<a href="https://doi.org/10.1136/adc.30.150.160" target="_blank">Full Text</a>]
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Patrick, A., Cameron, J. S., Ogg, C. S.
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<strong>A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.</strong>
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<a id="Reichold2018" class="mim-anchor"></a>
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Reichold, M., Klootwijk, E. D., Reinders, J., Otto, E. A., Milani, M., Broeker, C., Laing, C., Wiesner, J., Devi, S., Zhou, W., Schmitt, R., Tegtmeier, I., and 42 others.
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[<a href="https://doi.org/10.1681/ASN.2017111179" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Sheldon1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sheldon, W., Luder, J., Webb, B.
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<strong>A familial tubular absorption defect of glucose and amino acids.</strong>
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[<a href="https://doi.org/10.1136/adc.36.185.90" target="_blank">Full Text</a>]
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<strong>Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance: possible relationship with diabetes mellitus.</strong>
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<strong>Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.</strong>
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[<a href="https://doi.org/10.1681/ASN.V281310" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0272-6386(89)80059-9" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 06/07/2020
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Marla J. F. O'Neill - updated : 4/27/2010<br>Victor A. McKusick - updated : 1/24/2001<br>Victor A. McKusick - updated : 2/4/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 12/03/2024
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joanna : 07/01/2020<br>carol : 06/15/2020<br>carol : 06/11/2020<br>ckniffin : 06/07/2020<br>carol : 05/17/2017<br>carol : 09/24/2014<br>alopez : 9/24/2014<br>mcolton : 9/23/2014<br>ckniffin : 9/23/2014<br>carol : 1/17/2014<br>ckniffin : 1/16/2014<br>terry : 1/13/2011<br>carol : 4/27/2010<br>terry : 6/23/2006<br>terry : 4/18/2005<br>mgross : 3/17/2004<br>tkritzer : 7/25/2003<br>terry : 7/24/2003<br>carol : 2/5/2001<br>carol : 2/5/2001<br>carol : 1/25/2001<br>terry : 1/24/2001<br>mcapotos : 9/8/2000<br>mcapotos : 2/14/2000<br>terry : 2/4/2000<br>mimadm : 9/24/1994<br>terry : 5/13/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<span class="mim-font">
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<strong>#</strong> 134600
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FANCONI RENOTUBULAR SYNDROME 1; FRTS1
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<em>Alternative titles; symbols</em>
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FANCONI RENOTUBULAR SYNDROME; FRTS<br />
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RENAL FANCONI SYNDROME; RFS<br />
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ADULT FANCONI SYNDROME<br />
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FANCONI SYNDROME WITHOUT CYSTINOSIS<br />
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LUDER-SHELDON SYNDROME
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<strong>SNOMEDCT:</strong> 236468006;
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<strong>ORPHA:</strong> 3337;
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<strong>DO:</strong> 0080757;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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15q21.1
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Fanconi renotubular syndrome 1
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<span class="mim-font">
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134600
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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GATM
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<span class="mim-font">
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602360
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Fanconi renotubular syndrome-1 (FRTS1) is caused by heterozygous mutation in the GATM gene (602360) on chromosome 15q21.</p>
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<strong>Description</strong>
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<p>Fanconi renotubular syndrome-1 (FRTS1) is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001). </p><p><strong><em>Genetic Heterogeneity of Fanconi Renotubular Syndrome</em></strong></p><p>
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See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13; and FRTS5 (618913), caused by mutation in the NDUFAF6 gene (612392) on chromosome 8q22.</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Smith et al. (1976) described a kindred in which Fanconi syndrome occurred in 4 successive generations and was possibly associated with diabetes mellitus. The proband had hypophosphatemia, renal glycosuria, proteinuria, and generalized amino aciduria. At the age of 22, she developed symptoms of osteomalacia, which responded to treatment with oral phosphate. Her father, who died from diabetes mellitus, had been similarly affected. A sister was affected and at least 7 persons in 3 preceding generations had crippling bone disease and profound muscle weakness of early adult onset. Harrison et al. (1991) reported follow-up of this family, noting that the proband and her sister developed renal glomerular failure. </p><p>Brenton et al. (1981) restudied the original family of Dent and Harris (1951, 1956) in which 4 of 5 sibs had Fanconi renotubular syndrome. The 30-year follow-up also showed that lactic aciduria and tubular proteinuria were probably the earliest manifestations of the disorder in childhood, with glycosuria and amino aciduria developing in the second decade, and osteomalacia from the start of the fourth decade. Glomerular function deteriorated slowly, but was compatible with a normal life span. Although affected sibs suggested autosomal recessive inheritance, Brenton et al. (1981) concluded that the inheritance was undoubtedly autosomal dominant. </p><p>Luder and Sheldon (1955) and Sheldon et al. (1961) reported a pair of female twins who presented in early childhood with a renal tubular absorption defect. They had generalized aminoaciduria with loss of glucose and phosphate. One of the twins developed rickets in childhood, but responded well to vitamin D and phosphate treatment. Family history revealed that their father and paternal grandfather were mildly affected. A follow-up by Patrick et al. (1981) showed that 3 members had developed renal failure with renal transplant in 1. </p><p>Friedman et al. (1978) observed the Fanconi syndrome in father and son from a large family in Wisconsin; a unique feature was progression to early renal failure, requiring renal transplantation in the father. </p><p>Wen et al. (1989) and Lichter-Konecki et al. (2001) reported a large family from central Wisconsin with autosomal dominant renal Fanconi syndrome. Affected individuals had variable expressivity of tubular reabsorptive defects. Most of the affected family members developed polyuria and loss of proximal tubular function during the second decade of life and demonstrated significant renal insufficiency by the third decade. The 10 affected family members whose genomes were analyzed had been diagnosed with renal Fanconi syndrome by the following diagnostic criteria: a tubular reabsorption of phosphorus (calculated as maximum rate of tubular absorption of phosphate/glomerular filtration rate) less than 2.5 mg/dl, aminoaciduria, and glucosuria with normal serum glucose. Renal biopsy in 1 patient showed tubular atrophy, interstitial fibrosis, and nephrocalcinosis. At least 1 patient had osteosclerosis of the vertebral bodies. </p><p>Long et al. (1990) reported a man with glycosuria, proteinuria, aminoaciduria, phosphaturia, renal acidosis, and generalized bone demineralization. Renal biopsy showed swollen tubular cells with granular vacuolated cytoplasm, flattered epithelial cells, and interstitial fibrosis. Bone biopsy showed osteomalacia. The disorder was progressive, and the patient developed azotemia with progressive renal failure. His young son was similarly affected, suggesting autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of renal Fanconi syndrome in the family reported by Wen et al. (1989) was consistent with autosomal dominant inheritance. </p><p>Tolaymat et al. (1992) stated that 10 families with Fanconi syndrome had been described, of which 6 had an autosomal dominant mode of transmission. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By a genomewide screen of 24 members of the family with renal Fanconi syndrome reported by Wen et al. (1989), Lichter-Konecki et al. (2001) demonstrated linkage of the disorder to chromosome 15q15.3. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In 28 affected members from 5 unrelated families with FRTS1, Reichold et al. (2018) identified 4 different heterozygous missense mutations at highly conserved residues in the GATM gene (P320S, 602360.0006; T336A, 602360.0007; T336I, 602360.0008; and P34L, 602360.0009). Several of the families had previously been reported (e.g., Sheldon et al., 1961, Harrison et al., 1991, Long et al., 1990, Lichter-Konecki et al., 2001). The mutations, which were found by a combination of linkage analysis and candidate gene sequencing, next-generation gene sequencing, and exome sequencing, were confirmed by Sanger sequencing; the variants segregated with the disorder in all families. In silico modeling suggested that the mutations may adversely affect protein folding and possibly predispose the mutant protein to aggregation. Overexpression of the mutations in renal proximal tubule cells resulted in abnormal and elongated mitochondria containing GATM-positive fibrillary aggregates, similar to the deposits observed in the proximal tubules of patient renal biopsies. Cells transfected with the T336A mutation showed decreased mitochondrial turnover rate, increased reactive oxygen species (ROS), activation of the inflammasome, including elevated IL18 (600953), increased levels of fibronectin and actin mRNA, and increased cell death compared to controls. These findings provided a mechanistic link between kidney fibrosis and progressive renal failure observed in the patients. Examination of Gatm-null mice showed no evidence of aminoaciduria or glycosuria, consistent with no effect on renal proximal tubular function. However, treatment of rats with oral creatine reduced renal Gatm expression and protein levels, suggesting that it could be a possible intervention to suppress the endogenous production of mutant GATM and dampen the formation of deleterious mitochondrial deposits. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bovee et al. (1978) demonstrated a presumably hereditary Fanconi syndrome in dogs. </p>
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</span>
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<div>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Ben-Ishay et al. (1961) and Hunt et al. (1966) reported pedigrees consistent with autosomal dominant inheritance of the Fanconi renotubular syndrome. In the family of Hunt et al. (1966), a mother and son had retarded growth, rickets, hypophosphatemia, hypokalemia, acidosis, amino aciduria, proteinuria, and glycosuria, whereas 6 relatives had amino aciduria but no bone disturbance. Autopsy and biopsies showed no cystine deposits in tissues. </p>
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<div>
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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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Wallis and Engle (1957)
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ben-Ishay, D., Dreyfuss, F., Ullmann, T. D.
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<strong>Fanconi syndrome with hypouricemia in an adult: family study.</strong>
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Am. J. Med. 31: 793-800, 1961.
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[PubMed: 13867012]
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[Full Text: https://doi.org/10.1016/0002-9343(61)90163-2]
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<li>
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<p class="mim-text-font">
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Bovee, K. C., Joyce, T., Reynolds, R., Segal, S.
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<strong>Spontaneous Fanconi syndrome in the dog.</strong>
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Metabolism 27: 45-52, 1978.
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[PubMed: 619225]
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[Full Text: https://doi.org/10.1016/0026-0495(78)90122-1]
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<p class="mim-text-font">
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Brenton, D. P., Isenberg, D. A., Cusworth, D. C., Garrod, P., Krywawych, S., Stamp, T. C. B.
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<strong>The adult presenting idiopathic Fanconi syndrome.</strong>
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J. Inherit. Metab. Dis. 4: 211-215, 1981.
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[PubMed: 6796773]
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[Full Text: https://doi.org/10.1007/BF02263654]
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<p class="mim-text-font">
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Cassandra L. Kniffin - updated : 06/07/2020<br>Marla J. F. O'Neill - updated : 4/27/2010<br>Victor A. McKusick - updated : 1/24/2001<br>Victor A. McKusick - updated : 2/4/2000
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