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<title>
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Entry
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- #193100 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
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- OMIM
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<span class="h4">#193100</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/193100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS193100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11912&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89937" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050948" 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/193100" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001184/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:193100" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 237889002<br />
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<strong>ORPHA:</strong> 89937<br />
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<strong>DO:</strong> 0050948<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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|
193100
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
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<span class="mim-font">
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HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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|
<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT<br />
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HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
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<th>
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|
Location
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</th>
|
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
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</th>
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<th>
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|
Gene/Locus
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
|
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</thead>
|
|
<tbody>
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/32?start=-3&limit=10&highlight=32">
|
|
12p13.32
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypophosphatemic rickets, autosomal dominant
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193100"> 193100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FGF23
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605380"> 605380 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/193100" 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>
|
|
|
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|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS193100" 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/193100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/193100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
<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 patients with childhood-onset) <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>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation (childhood-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860408</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tooth abscesses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299709002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299709002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0518988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0518988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030757</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">
|
|
|
|
- Renal phosphate wasting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span><br /> -
|
|
Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</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">
|
|
|
|
- Osteomalacia <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 /> -
|
|
Rickets (childhood-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860409</a>]</span> <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">[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 /> -
|
|
Bone pain <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 />
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lower limb deformities (childhood-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860410</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449715001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449715001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002814</a>]</span><br /> -
|
|
Pseudofractures (adult-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806104</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Generalized weakness (adult-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806103</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/728.87" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.87</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003324</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Inappropriately normal serum 1,25-dihydroxyvitamin D3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860412</a>]</span><br /> -
|
|
Increased serum alkaline phosphatase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166627004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166627004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1314665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1314665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003155</a>]</span><br /> -
|
|
Normocalcemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860413&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860413</a>]</span><br /> -
|
|
Normal serum parathyroid hormone (PTH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860414&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860414</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty<br /> -
|
|
Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</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 /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Rarely, patients with childhood-onset may lose the renal phosphate-wasting defect<br /> -
|
|
Treatment with vitamin D and phosphate is effective<br /> -
|
|
Similar phenotype to X-linked hypophosphatemia (XLH, <a href="/entry/307800">307800</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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 fibroblast growth factor 23 gene (FGF23, <a href="/entry/605380#0001">605380.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hypophosphatemic rickets
|
|
- <a href="/phenotypicSeries/PS193100">PS193100</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/4/394?start=-3&limit=10&highlight=394"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/241520"> Hypophosphatemic rickets, AR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/241520"> 241520 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600980"> DMP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600980"> 600980 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/859?start=-3&limit=10&highlight=859"> 6q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613312"> Hypophosphatemic rickets, autosomal recessive, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613312"> 613312 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173335"> ENPP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173335"> 173335 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/32?start=-3&limit=10&highlight=32"> 12p13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193100"> Hypophosphatemic rickets, autosomal dominant </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">
|
|
<a href="/entry/193100"> 193100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605380"> FGF23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605380"> 605380 </a>
|
|
</span>
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because autosomal dominant hypophosphatemic rickets (ADHR) is caused by heterozygous mutation in the FGF23 gene (<a href="/entry/605380">605380</a>), a member of the fibroblast growth factor family, on chromosome 12p13.</p></div>
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<p>Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; <a href="/entry/307800">307800</a>), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (<a href="#5" class="mim-tip-reference" title="Econs, M. J., McEnery, P. T., Lennon, F., Speer, M. C. <strong>Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.</strong> J. Clin. Invest. 100: 2653-2657, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389727</a>] [<a href="https://doi.org/10.1172/JCI119809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389727">Econs et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389727" 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>See also hypophosphatemic bone disease (<a href="/entry/146350">146350</a>).</p><p><strong><em>Genetic Heterogeneity of Hypophosphatemic Rickets</em></strong></p><p>
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Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (<a href="/entry/241520">241520</a>), caused by mutation in the DMP1 gene (<a href="/entry/600980">600980</a>) on chromosome 4q21, and ARHR2 (<a href="/entry/613312">613312</a>), caused by mutation in the ENPP1 gene (<a href="/entry/173335">173335</a>) on chromosome 6q23. An X-linked dominant form (XLHR; <a href="/entry/307800">307800</a>) is caused by mutation in the PHEX gene (<a href="/entry/300550">300550</a>), and an X-linked recessive form (<a href="/entry/300554">300554</a>) is caused by mutation in the CLCN5 gene (<a href="/entry/300008">300008</a>).</p><p><strong><em>Clinical Variability of Hypophosphatemic Rickets</em></strong></p><p>
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Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, <a href="/entry/264700">264700</a>). A form of hypophosphatemic rickets with hypercalciuria (HHRH; <a href="/entry/241530">241530</a>) is caused by mutation in the SLC34A3 gene (<a href="/entry/609826">609826</a>), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (<a href="/entry/612089">612089</a>) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; <a href="/entry/604824">604824</a>).</p>
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<p><a href="#7" class="mim-tip-reference" title="Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D. <strong>Growth disturbance in hereditary hypophosphatemia.</strong> Am. J. Dis. Child. 112: 290-297, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5925614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5925614</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090130064005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5925614">Harrison et al. (1966)</a> reported a brother and 2 sisters with hypophosphatemia, whose father had hypophosphatemia, severe osteomalacia, and stunting of growth and whose mother was normal (also see <a href="#2" class="mim-tip-reference" title="Bianchine, J. W., Stambler, A. A., Harrison, H. E. <strong>Familial hypophosphatemic rickets showing autosomal dominant inheritance.</strong> Birth Defects Orig. Art. Ser. VII(6): 287-294, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173181</a>]" pmid="5173181">Bianchine et al., 1971</a>). Follow-up on the family (<a href="#8" class="mim-tip-reference" title="Harrison, H. E., Harrison, H. C. <strong>Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence.</strong> Philadelphia: W. B. Saunders (pub.) 1979. Pp. 230-238."None>Harrison and Harrison, 1979</a>) stated the father had had hypophosphatemic rickets and osteomalacia as a child for which osteotomies were performed. As an adult, the father had active osteomalacia with severe pain in the hips, legs, and neck. Several automobile accidents and other trauma contributed to the damage to the skeleton. At age 50, he walked with the aid of canes, had limited motion in both hips, and fusion of articular facets of the cervical spine. He had 4 children of whom 2 daughters and a son were affected. The oldest daughter gave birth to an affected son. Serum alkaline phosphatase was elevated at 3 months of age and he subsequently developed hypophosphatemia and active rickets related to inadequate compliance with treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5173181+5925614" 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="Econs, M. J., McEnery, P. T. <strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong> J. Clin. Endocr. Metab. 82: 674-681, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024275</a>] [<a href="https://doi.org/10.1210/jcem.82.2.3765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024275">Econs and McEnery (1997)</a> reported a large kindred from southern Ohio in which 23 individuals had hypophosphatemic rickets inherited in an autosomal dominant pattern spanning 5 generations. Patients could be divided into 2 general groups: those who presented with renal phosphate wasting after puberty and those who presented with renal phosphate wasting and rickets as children. There were equal numbers of patients in each group. Nine patients, all female, presented from 14.5 to 45 years with bone pain, fatigue, and weakness. Although several patients had pseudofractures and/or stress fractures, none had a history of rickets or lower limb deformities. All had hypophosphatemia, and some of the women presented shortly after pregnancy. Vitamin D and phosphate therapy resulted in clinical improvement in many patients. Among the 9 patients who presented between ages 1 to 3 years, all showed rickets and hypophosphatemia. Two of these patients, both male, later lost the renal phosphate-wasting defect in their mid-to-late teens. Additional studies of all patients showed inappropriately normal serum 1,25-dihydroxyvitamin D3. <a href="#6" class="mim-tip-reference" title="Econs, M. J., McEnery, P. T. <strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong> J. Clin. Endocr. Metab. 82: 674-681, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024275</a>] [<a href="https://doi.org/10.1210/jcem.82.2.3765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024275">Econs and McEnery (1997)</a> noted that ADHR is similar clinically to X-linked hypophosphatemia, with the additional unique features of incomplete penetrance, delayed onset, and occasional resolution of the phosphate-wasting defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024275" 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="#12" class="mim-tip-reference" title="Wilson, D. R., York, S. E., Jaworski, Z. F., Yendt, E. R. <strong>Studies in hypophosphatemic vitamin D-refractory osteomalacia in adults: oral phosphate supplements as an adjunct to therapy.</strong> Medicine 44: 99-134, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14272750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14272750</a>] [<a href="https://doi.org/10.1097/00005792-196503000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14272750">Wilson et al. (1965)</a> reported a family study initiated from a female proband with typical vitamin D-resistant rickets. Only the proband was clinically affected but, although the parents had normal blood phosphorus, many more remote relatives had hypophosphatemia. Father-to-son transmission of hypophosphatemia was observed. Although the normal parents and their relationship as second cousins suggested autosomal recessive inheritance, the authors favored autosomal dominance with reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14272750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In their literature review, <a href="#13" class="mim-tip-reference" title="Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H. <strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong> Medicine 37: 97-142, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13565132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13565132</a>] [<a href="https://doi.org/10.1097/00005792-195805000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13565132">Winters et al. (1958)</a> noted a report of male-to-male transmission of 'vitamin D resistant rickets,' which may have been an instance of hypophosphatemic bone disease (<a href="/entry/146350">146350</a>). <a href="#10" class="mim-tip-reference" title="Pak, C. Y. C., Deluca, H. F., Bartter, F. C., Henneman, D. H., Frame, B., Simopoulos, A. P., Delea, C. S. <strong>Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.</strong> Arch. Intern. Med. 129: 894-899, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4338211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4338211</a>]" pmid="4338211">Pak et al. (1972)</a> also reported a presumably autosomal dominant form of vitamin D-resistant rickets. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13565132+4338211" 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 both ADHR and XLH, <a href="#3" class="mim-tip-reference" title="Brickman, A. S., Coburn, J. W., Kurokawa, K., Bethune, J. E., Harrison, H. E., Norman, A. W. <strong>Actions of 1,25 dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets.</strong> New Eng. J. Med. 289: 495-498, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4353218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4353218</a>] [<a href="https://doi.org/10.1056/NEJM197309062891002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4353218">Brickman et al. (1973)</a> found that treatment with 1,25-dihydroxycholecalciferol alone was ineffective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4353218" 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="Econs, M. J., McEnery, P. T. <strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong> J. Clin. Endocr. Metab. 82: 674-681, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024275</a>] [<a href="https://doi.org/10.1210/jcem.82.2.3765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024275">Econs and McEnery (1997)</a> reported successful treatment of ADHR with phosphate and high doses of vitamin D. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024275" 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 genomewide search in a large family with autosomal dominant hypophosphatemic rickets, <a href="#5" class="mim-tip-reference" title="Econs, M. J., McEnery, P. T., Lennon, F., Speer, M. C. <strong>Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.</strong> J. Clin. Invest. 100: 2653-2657, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389727</a>] [<a href="https://doi.org/10.1172/JCI119809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389727">Econs et al. (1997)</a> identified a candidate disease locus, termed ADHR, on chromosome 12p. Two-point lod scores using an affecteds-only analysis for selected markers were 5.65 at theta = 0.0 for VWF (<a href="/entry/613160">613160</a>) in 12p13.3 and 3.73 at theta = 0.0 for CD4 (<a href="/entry/186940">186940</a>). Multipoint linkage analysis delineated an 18-cM interval between markers D12S100 and D12S397 (maximum multipoint lod score of 8.13). Moreover, there was no evidence of linkage between ADHR and regions of the genome that contain the 2 known sodium-dependent inorganic phosphate cotransporters: 5q35, the location of the SLC34A1 gene (<a href="/entry/182309">182309</a>); and 6p, the location of the SLC17A1 gene (<a href="/entry/182308">182308</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389727" 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="#9" class="mim-tip-reference" title="Holm, I. A., Huang, X., Kunkel, L. M. <strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong> Am. J. Hum. Genet. 60: 790-797, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106524</a>]" pmid="9106524">Holm et al. (1997)</a> observed a female patient with apparently sporadic hypophosphatemia and an apparently balanced, de novo 9;13 translocation. The breakpoints were at 9q22 and 13q14. See <a href="/entry/612089">612089</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 unrelated families with ADHR, the <a href="#1" class="mim-tip-reference" title="ADHR Consortium. <strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong> Nature Genet. 26: 345-348, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062477</a>] [<a href="https://doi.org/10.1038/81664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062477">ADHR Consortium (2000)</a> identified 3 different missense mutations in the FGF23 gene (see, e.g., <a href="/entry/605380#0001">605380.0001</a>-<a href="/entry/605380#0002">605380.0002</a>). Three of the families had been reported by <a href="#6" class="mim-tip-reference" title="Econs, M. J., McEnery, P. T. <strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong> J. Clin. Endocr. Metab. 82: 674-681, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024275</a>] [<a href="https://doi.org/10.1210/jcem.82.2.3765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024275">Econs and McEnery (1997)</a>, <a href="#2" class="mim-tip-reference" title="Bianchine, J. W., Stambler, A. A., Harrison, H. E. <strong>Familial hypophosphatemic rickets showing autosomal dominant inheritance.</strong> Birth Defects Orig. Art. Ser. VII(6): 287-294, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173181</a>]" pmid="5173181">Bianchine et al. (1971)</a>, and <a href="#11" class="mim-tip-reference" title="Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H. <strong>Three DNA markers for hypophosphataemic rickets.</strong> Hum. Genet. 89: 539-542, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353055</a>] [<a href="https://doi.org/10.1007/BF00219180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353055">Rowe et al. (1992)</a>. These mutations represented the first mutations found in a human FGF gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11062477+1353055+9024275+5173181" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between autosomal dominant hypophosphatemic rickets (see, e.g., <a href="/entry/193100">193100</a>) and mutation in the SGK3 gene, see <a href="/entry/607591#0001">607591.0001</a>.</p>
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<a href="#Deluca1969" class="mim-tip-reference" title="Deluca, H. F. <strong>Vitamin D.</strong> New Eng. J. Med. 281: 1103-1104, 1969.">Deluca (1969)</a>
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ADHR Consortium.
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<strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong>
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Nature Genet. 26: 345-348, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/81664" target="_blank">Full Text</a>]
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Bianchine, J. W., Stambler, A. A., Harrison, H. E.
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<strong>Familial hypophosphatemic rickets showing autosomal dominant inheritance.</strong>
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Birth Defects Orig. Art. Ser. VII(6): 287-294, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brickman, A. S., Coburn, J. W., Kurokawa, K., Bethune, J. E., Harrison, H. E., Norman, A. W.
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<strong>Actions of 1,25 dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets.</strong>
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New Eng. J. Med. 289: 495-498, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4353218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4353218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4353218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197309062891002" target="_blank">Full Text</a>]
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Deluca, H. F.
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<strong>Vitamin D.</strong>
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New Eng. J. Med. 281: 1103-1104, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4309963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4309963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4309963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM196911132812006" target="_blank">Full Text</a>]
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Econs, M. J., McEnery, P. T., Lennon, F., Speer, M. C.
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<strong>Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.</strong>
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J. Clin. Invest. 100: 2653-2657, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI119809" target="_blank">Full Text</a>]
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Econs, M. J., McEnery, P. T.
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<strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong>
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J. Clin. Endocr. Metab. 82: 674-681, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.82.2.3765" target="_blank">Full Text</a>]
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Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D.
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<strong>Growth disturbance in hereditary hypophosphatemia.</strong>
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Am. J. Dis. Child. 112: 290-297, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5925614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5925614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5925614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1966.02090130064005" target="_blank">Full Text</a>]
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Harrison, H. E., Harrison, H. C.
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<strong>Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence.</strong>
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Philadelphia: W. B. Saunders (pub.) 1979. Pp. 230-238.
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Holm, I. A., Huang, X., Kunkel, L. M.
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<strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong>
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Am. J. Hum. Genet. 60: 790-797, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Pak, C. Y. C., Deluca, H. F., Bartter, F. C., Henneman, D. H., Frame, B., Simopoulos, A. P., Delea, C. S.
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<strong>Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.</strong>
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Arch. Intern. Med. 129: 894-899, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4338211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4338211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4338211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H.
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<strong>Three DNA markers for hypophosphataemic rickets.</strong>
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Hum. Genet. 89: 539-542, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00219180" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Wilson, D. R., York, S. E., Jaworski, Z. F., Yendt, E. R.
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<strong>Studies in hypophosphatemic vitamin D-refractory osteomalacia in adults: oral phosphate supplements as an adjunct to therapy.</strong>
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Medicine 44: 99-134, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14272750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14272750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14272750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00005792-196503000-00001" target="_blank">Full Text</a>]
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Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H.
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<strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong>
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Medicine 37: 97-142, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13565132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13565132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13565132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00005792-195805000-00001" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 3/22/2010
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Marla J. F. O'Neill - updated : 5/29/2008<br>Cassandra L. Kniffin - reorganized : 9/1/2005<br>Cassandra L. Kniffin - updated : 8/15/2005<br>Victor A. McKusick - updated : 10/25/2000<br>Victor A. McKusick - updated : 10/22/1997<br>Victor A. McKusick - updated : 6/12/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 01/10/2025
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carol : 02/17/2023<br>carol : 09/14/2020<br>carol : 10/04/2010<br>carol : 3/23/2010<br>carol : 3/22/2010<br>carol : 5/29/2008<br>alopez : 11/27/2006<br>carol : 9/1/2005<br>ckniffin : 8/15/2005<br>alopez : 10/31/2000<br>terry : 10/25/2000<br>alopez : 7/26/1999<br>terry : 1/15/1998<br>terry : 1/14/1998<br>terry : 10/28/1997<br>jenny : 10/24/1997<br>terry : 10/22/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>mimadm : 6/7/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>marie : 3/8/1988
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<span class="mim-font">
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<strong>#</strong> 193100
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<h3>
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HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT<br />
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HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT
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<strong>SNOMEDCT:</strong> 237889002;
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<strong>ORPHA:</strong> 89937;
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<strong>DO:</strong> 0050948;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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12p13.32
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<span class="mim-font">
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Hypophosphatemic rickets, autosomal dominant
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<span class="mim-font">
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193100
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<span class="mim-font">
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Autosomal dominant
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3
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FGF23
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605380
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal dominant hypophosphatemic rickets (ADHR) is caused by heterozygous mutation in the FGF23 gene (605380), a member of the fibroblast growth factor family, on chromosome 12p13.</p>
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<strong>Description</strong>
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<p>Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). </p><p>See also hypophosphatemic bone disease (146350).</p><p><strong><em>Genetic Heterogeneity of Hypophosphatemic Rickets</em></strong></p><p>
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Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (241520), caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312), caused by mutation in the ENPP1 gene (173335) on chromosome 6q23. An X-linked dominant form (XLHR; 307800) is caused by mutation in the PHEX gene (300550), and an X-linked recessive form (300554) is caused by mutation in the CLCN5 gene (300008).</p><p><strong><em>Clinical Variability of Hypophosphatemic Rickets</em></strong></p><p>
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Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene (609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (612089) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; 604824).</p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Harrison et al. (1966) reported a brother and 2 sisters with hypophosphatemia, whose father had hypophosphatemia, severe osteomalacia, and stunting of growth and whose mother was normal (also see Bianchine et al., 1971). Follow-up on the family (Harrison and Harrison, 1979) stated the father had had hypophosphatemic rickets and osteomalacia as a child for which osteotomies were performed. As an adult, the father had active osteomalacia with severe pain in the hips, legs, and neck. Several automobile accidents and other trauma contributed to the damage to the skeleton. At age 50, he walked with the aid of canes, had limited motion in both hips, and fusion of articular facets of the cervical spine. He had 4 children of whom 2 daughters and a son were affected. The oldest daughter gave birth to an affected son. Serum alkaline phosphatase was elevated at 3 months of age and he subsequently developed hypophosphatemia and active rickets related to inadequate compliance with treatment. </p><p>Econs and McEnery (1997) reported a large kindred from southern Ohio in which 23 individuals had hypophosphatemic rickets inherited in an autosomal dominant pattern spanning 5 generations. Patients could be divided into 2 general groups: those who presented with renal phosphate wasting after puberty and those who presented with renal phosphate wasting and rickets as children. There were equal numbers of patients in each group. Nine patients, all female, presented from 14.5 to 45 years with bone pain, fatigue, and weakness. Although several patients had pseudofractures and/or stress fractures, none had a history of rickets or lower limb deformities. All had hypophosphatemia, and some of the women presented shortly after pregnancy. Vitamin D and phosphate therapy resulted in clinical improvement in many patients. Among the 9 patients who presented between ages 1 to 3 years, all showed rickets and hypophosphatemia. Two of these patients, both male, later lost the renal phosphate-wasting defect in their mid-to-late teens. Additional studies of all patients showed inappropriately normal serum 1,25-dihydroxyvitamin D3. Econs and McEnery (1997) noted that ADHR is similar clinically to X-linked hypophosphatemia, with the additional unique features of incomplete penetrance, delayed onset, and occasional resolution of the phosphate-wasting defect. </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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wilson et al. (1965) reported a family study initiated from a female proband with typical vitamin D-resistant rickets. Only the proband was clinically affected but, although the parents had normal blood phosphorus, many more remote relatives had hypophosphatemia. Father-to-son transmission of hypophosphatemia was observed. Although the normal parents and their relationship as second cousins suggested autosomal recessive inheritance, the authors favored autosomal dominance with reduced penetrance. </p><p>In their literature review, Winters et al. (1958) noted a report of male-to-male transmission of 'vitamin D resistant rickets,' which may have been an instance of hypophosphatemic bone disease (146350). Pak et al. (1972) also reported a presumably autosomal dominant form of vitamin D-resistant rickets. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>In both ADHR and XLH, Brickman et al. (1973) found that treatment with 1,25-dihydroxycholecalciferol alone was ineffective. </p><p>Econs and McEnery (1997) reported successful treatment of ADHR with phosphate and high doses of vitamin D. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By genomewide search in a large family with autosomal dominant hypophosphatemic rickets, Econs et al. (1997) identified a candidate disease locus, termed ADHR, on chromosome 12p. Two-point lod scores using an affecteds-only analysis for selected markers were 5.65 at theta = 0.0 for VWF (613160) in 12p13.3 and 3.73 at theta = 0.0 for CD4 (186940). Multipoint linkage analysis delineated an 18-cM interval between markers D12S100 and D12S397 (maximum multipoint lod score of 8.13). Moreover, there was no evidence of linkage between ADHR and regions of the genome that contain the 2 known sodium-dependent inorganic phosphate cotransporters: 5q35, the location of the SLC34A1 gene (182309); and 6p, the location of the SLC17A1 gene (182308). </p>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</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>Holm et al. (1997) observed a female patient with apparently sporadic hypophosphatemia and an apparently balanced, de novo 9;13 translocation. The breakpoints were at 9q22 and 13q14. See 612089. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In affected members of 4 unrelated families with ADHR, the ADHR Consortium (2000) identified 3 different missense mutations in the FGF23 gene (see, e.g., 605380.0001-605380.0002). Three of the families had been reported by Econs and McEnery (1997), Bianchine et al. (1971), and Rowe et al. (1992). These mutations represented the first mutations found in a human FGF gene. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between autosomal dominant hypophosphatemic rickets (see, e.g., 193100) and mutation in the SGK3 gene, see 607591.0001.</p>
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<span class="mim-font">
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<strong>See Also:</strong>
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Deluca (1969)
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<strong>REFERENCES</strong>
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ADHR Consortium.
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<strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong>
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Nature Genet. 26: 345-348, 2000.
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[PubMed: 11062477]
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[Full Text: https://doi.org/10.1038/81664]
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Bianchine, J. W., Stambler, A. A., Harrison, H. E.
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<strong>Familial hypophosphatemic rickets showing autosomal dominant inheritance.</strong>
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Birth Defects Orig. Art. Ser. VII(6): 287-294, 1971.
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[PubMed: 5173181]
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Brickman, A. S., Coburn, J. W., Kurokawa, K., Bethune, J. E., Harrison, H. E., Norman, A. W.
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<strong>Actions of 1,25 dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets.</strong>
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New Eng. J. Med. 289: 495-498, 1973.
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[PubMed: 4353218]
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[Full Text: https://doi.org/10.1056/NEJM197309062891002]
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Deluca, H. F.
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<strong>Vitamin D.</strong>
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New Eng. J. Med. 281: 1103-1104, 1969.
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[PubMed: 4309963]
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[Full Text: https://doi.org/10.1056/NEJM196911132812006]
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Econs, M. J., McEnery, P. T., Lennon, F., Speer, M. C.
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<strong>Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.</strong>
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J. Clin. Invest. 100: 2653-2657, 1997.
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[PubMed: 9389727]
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[Full Text: https://doi.org/10.1172/JCI119809]
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Econs, M. J., McEnery, P. T.
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<strong>Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.</strong>
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J. Clin. Endocr. Metab. 82: 674-681, 1997.
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[PubMed: 9024275]
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[Full Text: https://doi.org/10.1210/jcem.82.2.3765]
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Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D.
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<strong>Growth disturbance in hereditary hypophosphatemia.</strong>
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Am. J. Dis. Child. 112: 290-297, 1966.
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[PubMed: 5925614]
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[Full Text: https://doi.org/10.1001/archpedi.1966.02090130064005]
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<p class="mim-text-font">
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Harrison, H. E., Harrison, H. C.
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<strong>Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence.</strong>
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Philadelphia: W. B. Saunders (pub.) 1979. Pp. 230-238.
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Holm, I. A., Huang, X., Kunkel, L. M.
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<strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong>
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Am. J. Hum. Genet. 60: 790-797, 1997.
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[PubMed: 9106524]
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Pak, C. Y. C., Deluca, H. F., Bartter, F. C., Henneman, D. H., Frame, B., Simopoulos, A. P., Delea, C. S.
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<strong>Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.</strong>
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Arch. Intern. Med. 129: 894-899, 1972.
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[PubMed: 4338211]
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Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H.
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<strong>Three DNA markers for hypophosphataemic rickets.</strong>
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Hum. Genet. 89: 539-542, 1992.
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[PubMed: 1353055]
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[Full Text: https://doi.org/10.1007/BF00219180]
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Wilson, D. R., York, S. E., Jaworski, Z. F., Yendt, E. R.
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<strong>Studies in hypophosphatemic vitamin D-refractory osteomalacia in adults: oral phosphate supplements as an adjunct to therapy.</strong>
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Medicine 44: 99-134, 1965.
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[PubMed: 14272750]
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[Full Text: https://doi.org/10.1097/00005792-196503000-00001]
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Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H.
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<strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong>
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Medicine 37: 97-142, 1958.
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[PubMed: 13565132]
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[Full Text: https://doi.org/10.1097/00005792-195805000-00001]
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Marla J. F. O'Neill - updated : 3/22/2010<br>Marla J. F. O'Neill - updated : 5/29/2008<br>Cassandra L. Kniffin - reorganized : 9/1/2005<br>Cassandra L. Kniffin - updated : 8/15/2005<br>Victor A. McKusick - updated : 10/25/2000<br>Victor A. McKusick - updated : 10/22/1997<br>Victor A. McKusick - updated : 6/12/1997
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Victor A. McKusick : 6/2/1986
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