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Entry
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- #211900 - TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1
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- OMIM
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<p>
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<span class="h4">#211900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/211900"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#heterogeneity">Heterogeneity</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21246&Typ=Pat" title="Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial hyperphosphatemic… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10741&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial tumoral calcinosis </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK476672/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=211900[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306661" title="Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial hyperphosphatemic…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial tumoral calcinosis</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111063" 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/211900" 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 style="display: table-cell;">Cell Lines</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:211900" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 860796007<br />
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<strong>ORPHA:</strong> 306661, 53715<br />
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<strong>DO:</strong> 0111063<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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211900
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1
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</h3>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC<br />
|
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CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA<br />
|
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TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC<br />
|
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LIPOCALCINOGRANULOMATOSIS<br />
|
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TEUTSCHLAENDER DISEASE, FAMILIAL<br />
|
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MORBUS TEUTSCHLAENDER<br />
|
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HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS<br />
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HYPEROSTOSIS WITH HYPERPHOSPHATEMIA<br />
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CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
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<br />
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/738?start=-3&limit=10&highlight=738">
|
|
2q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Tumoral calcinosis, hyperphosphatemic, familial, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/211900"> 211900 </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">
|
|
GALNT3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601756"> 601756 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/211900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/211900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/211900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Angioid streaks, retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002982</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001102</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001102" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001102</a>]</span><br /> -
|
|
Conjunctival irritation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239093</a>]</span><br /> -
|
|
Conjunctival whitish 'salt-like' deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968901&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968901</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007799" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007799</a>]</span><br /> -
|
|
Eyelid calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5243754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5243754</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Obliterated tooth pulp cavities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968902</a>]</span><br /> -
|
|
Pulp stones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57602001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57602001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K04.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K04.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003771</a>]</span><br /> -
|
|
Thin dental enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851854</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br /> -
|
|
Short blunt tooth roots <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968904&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968904</a>]</span><br /> -
|
|
Sclerotic teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393143&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393143</a>]</span><br /> -
|
|
Taurodontism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51744007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51744007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000679" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000679</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000679" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000679</a>]</span><br /> -
|
|
Swirled radicular dentin deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968905&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968905</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vascular calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237897009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237897009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342649</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004934" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004934</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">
|
|
|
|
- Increased renal tubular phosphate reabsorption <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968910&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968910</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005571</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005571</a>]</span><br /> -
|
|
Decreased renal tubular phosphate excretion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005572</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005572</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">
|
|
|
|
- Tumoral calcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61778004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61778004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263628</a>]</span><br /> -
|
|
Ectopic periarticular calcified masses, painful (hip, elbow, shoulder) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968906</a>]</span><br /> -
|
|
Progressive deposition of basic calcium phosphate crystals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968907</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Painful swellings of the long bones, acute, recurrent attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674852</a>]</span><br /> -
|
|
Cortical hyperostosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1394142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1394142</a>]</span><br /> -
|
|
Periosteal reaction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674853&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674853</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031485</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031485</a>]</span><br /> -
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Diaphysitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62920004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62920004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0264127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264127</a>]</span><br /> -
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Sclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43846000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43846000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036429</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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<div style="margin-left: 2em;">
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<em> Skin </em>
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<div style="margin-left: 2em;">
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- Deposition of calcium phosphate crystals in skin and subcutaneous tissues <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968911</a>]</span><br /> -
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Painful ulcerations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393144</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperphosphatemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20165001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665437</a>, <a href="https://bioportal.bioontology.org/search?q=C0085681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002905</a>]</span><br /> -
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Normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968908</a>]</span><br /> -
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Increased serum FGF23 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968909</a>]</span><br /> -
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Normal serum calcium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858094</a>]</span><br /> -
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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 /> -
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Increased percent tubular reabsorption of phosphorus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968910&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968910</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005571</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005571</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in first decade of life<br /> -
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Variable manifestations<br /> -
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High prevalence among individuals of Middle Eastern or African descent<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 gene (GALNT3, <a href="/entry/601756#0001">601756.0001</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hyperphosphatemic familial tumoral calcinosis-1 (HFTC1) is caused by homozygous or compound heterozygous mutation in the GALNT3 gene (<a href="/entry/601756">601756</a>) on chromosome 2q24.</p>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (<a href="#9" class="mim-tip-reference" title="Chefetz, I., Heller, R., Galli-Tsinopoulou, A., Richard, G., Wollnik, B., Indelman, M., Koerber, F., Topaz, O., Bergman, R., Sprecher, E., Schoenau, E. <strong>A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification.</strong> Hum. Genet. 118: 261-266, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16151858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16151858</a>] [<a href="https://doi.org/10.1007/s00439-005-0026-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16151858">Chefetz et al., 2005</a>). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (<a href="/entry/605380">605380</a>) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (<a href="#15" class="mim-tip-reference" title="Frishberg, Y., Topaz, O., Bergman, R., Behar, D., Fisher, D., Gordon, D., Richard, G., Sprecher, E. <strong>Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.</strong> J. Molec. Med. 83: 33-38, 2005. Note: Erratum: J. Molec. Med. 83: 240 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15599692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15599692</a>] [<a href="https://doi.org/10.1007/s00109-004-0610-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15599692">Frishberg et al., 2005</a>), <a href="#23" class="mim-tip-reference" title="Ichikawa, S., Baujat, G., Seyahi, A., Garoufali, A. G., Imel, E. A., Padgett, L. R., Austin, A. M., Sorenson, A. H., Pejin, Z., Topouchian, V., Quartier, P., Cormier-Daire, V., Dechaux, M., Malandrinou, F. C., Singhellakis, P. N., Le Merrer, M., Econs, M. J. <strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong> Am. J. Med. Genet. 152A: 896-903, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358599">Ichikawa et al. (2010)</a> concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20358599+15599692+16151858" 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>HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; <a href="/entry/193100">193100</a>), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (<a href="#9" class="mim-tip-reference" title="Chefetz, I., Heller, R., Galli-Tsinopoulou, A., Richard, G., Wollnik, B., Indelman, M., Koerber, F., Topaz, O., Bergman, R., Sprecher, E., Schoenau, E. <strong>A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification.</strong> Hum. Genet. 118: 261-266, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16151858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16151858</a>] [<a href="https://doi.org/10.1007/s00439-005-0026-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16151858">Chefetz et al., 2005</a>; <a href="#26" class="mim-tip-reference" title="Ichikawa, S., Lyles, K. W., Econs, M. J. <strong>A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.</strong> J. Clin. Endocr. Metab. 90: 2420-2423, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15687324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15687324</a>] [<a href="https://doi.org/10.1210/jc.2004-2302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15687324">Ichikawa et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15687324+16151858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis</em></strong></p><p>
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Also see HFTC2 (<a href="/entry/617993">617993</a>), caused by mutation in the FGF23 gene (<a href="/entry/605380">605380</a>) on chromosome 12p13, and HFTC3 (<a href="/entry/617994">617994</a>), caused by mutation in the KL gene (<a href="/entry/604824">604824</a>) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#27" class="mim-tip-reference" title="Inclan, A., Leon, P., Camejo, M. G. <strong>Tumoral calcinosis.</strong> JAMA 121: 490-495, 1943."None>Inclan et al. (1943)</a> first gave the name 'tumoral calcinosis' to this condition, which was first described by <a href="#17" class="mim-tip-reference" title="Giard, A. <strong>Sur la calcification hibernale.</strong> C. R. Soc. Biol. 10: 1013-1015, 1898."None>Giard (1898)</a> and then by <a href="#14" class="mim-tip-reference" title="Duret, M. H. <strong>Tumeurs multiples et singulieres des bourses sereuses.</strong> Bull. Mem. Soc. Ant. Paris 74: 725-731, 1899."None>Duret (1899)</a>. <a href="#16" class="mim-tip-reference" title="Ghormley, R. K. <strong>Multiple calcified bursae and calcified cysts in soft tissues.</strong> Trans. West. Surg. Assoc. 51: 292-309, 1942."None>Ghormley (1942)</a> reported multiple affected sibs.</p><p><a href="#6" class="mim-tip-reference" title="Baldursson, H., Evans, E. B., Dodge, W. F., Jackson, W. T. <strong>Tumoral calcinosis with hyperphosphatemia: a report of a family with incidence in four siblings.</strong> J. Bone Joint Surg. Br. 51: 913-925, 1969."None>Baldursson et al. (1969)</a> observed 4 affected sibs out of 12 in a black family. Hyperphosphatemia was documented as early as 21 months of age in one of them in whom tumoral calcinosis appeared at 4 years of age. A majority of the cases of this condition reported in the Anglo-American literature have been in blacks. Other familial cases were reported by <a href="#7" class="mim-tip-reference" title="Barton, D. L., Reeves, R. J. <strong>Tumoral calcinosis: report of 3 cases and review of the literature.</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 86: 351-358, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687481</a>]" pmid="13687481">Barton and Reeves (1961)</a>, <a href="#22" class="mim-tip-reference" title="Harkess, J. W., Peters, H. J. <strong>Tumoral calcinosis: a report of six cases.</strong> J. Bone Joint Surg. Am. 49: 721-731, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6026005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6026005</a>]" pmid="6026005">Harkess and Peters (1967)</a>, and <a href="#51" class="mim-tip-reference" title="Wilber, J. F., Slatopolsky, E. <strong>Hyperphosphatemia and tumoral calcinosis.</strong> Ann. Intern. Med. 68: 1044-1049, 1968."None>Wilber and Slatopolsky (1968)</a>. <a href="#13" class="mim-tip-reference" title="Dodge, W. F., Travis, L. B., Assemi, M. <strong>Familial heterotopic calcification and hyperphosphatemia unresponsive to parathyroid extract. (Abstract)</strong> J. Pediat. 67: 944-945, 1965."None>Dodge et al. (1965)</a> described 3 sibs with heterotopic calcification, hyperphosphatemia, unresponsiveness to parathyroid hormone (PTH; <a href="/entry/168450">168450</a>), and elevated renal tubular maximum for phosphate reabsorption. Stigmata of Albright hereditary osteodystrophy (AHO; see <a href="/entry/103580">103580</a>) were not present. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6026005+13687481" 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>Some reported patients have had angioid streaks of the retina (see <a href="/entry/607140">607140</a>) (<a href="#32" class="mim-tip-reference" title="McPhaul, J. J., Jr., Engel, F. L. <strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong> Am. J. Med. 31: 488-492, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13774168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13774168</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90131-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13774168">McPhaul and Engel, 1961</a>). This is consistent with the view that angioid streaks in pseudoxanthoma elasticum (PXE; <a href="/entry/264800">264800</a>), sickle cell anemia (<a href="/entry/603903">603903</a>), and Paget disease (<a href="/entry/167250">167250</a>) are due to a brittle state of Bruch membrane produced by deposition of calcium, iron, and perhaps other cations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13774168" 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="#32" class="mim-tip-reference" title="McPhaul, J. J., Jr., Engel, F. L. <strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong> Am. J. Med. 31: 488-492, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13774168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13774168</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90131-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13774168">McPhaul and Engel (1961)</a> reported affected brothers; in another family the proband's paternal grandfather was thought to have been affected and he was related to a family reported as PXE. From Beirut, <a href="#37" class="mim-tip-reference" title="Najjar, S. S., Farah, F. S., Kurban, A. K., Melhem, R. E., Khachadurian, A. K. <strong>Tumoral calcinosis and pseudoxanthoma elasticum.</strong> J. Pediat. 72: 243-247, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635805</a>] [<a href="https://doi.org/10.1016/s0022-3476(68)80315-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5635805">Najjar et al. (1968)</a> described 2 sibs with periarticular calcified masses, increased blood phosphorus, normal blood calcium, calcified vessels, and skin changes of PXE. The parents may have been related. An aunt was said to have heterotopic calcification. In a review of the radiologic findings of PXE, <a href="#28" class="mim-tip-reference" title="James, A. E., Jr., Eaton, S. B., Blazek, J. V., Donner, M. W., Reeves, R. J. <strong>Roentgen findings in pseudoxanthoma elasticum (PXE).</strong> Am. J. Roentgen. Radium Ther. Nucl. Med. 106: 642-647, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306141</a>] [<a href="https://doi.org/10.2214/ajr.106.3.642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5306141">James et al. (1969)</a> pictured a large calcified mass in the region of the elbow. The patient probably had the entity discussed here, which was called 'lipocalcinogranulomatose' by <a href="#46" class="mim-tip-reference" title="Teutschlaender, O. <strong>Ueber progressive Lipogranulomatose der Muskulatur.</strong> Klin. Wschr. 14: 451-453, 1935."None>Teutschlaender (1935)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5635805+5306141+13774168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Collard, M. <strong>Une forme familiale de lipocalcinogranulomatose avec calcinose arterielle.</strong> J. Radiol. Electr. 47: 31-40, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5907200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5907200</a>]" pmid="5907200">Collard (1966)</a> described 2 affected sisters in a sibship of 5. Calcification of the media was limited to arteries of the leg. The parents were normal and unrelated. Large calcified tophus-like nodules were situated around the joints of the fingers and toes. Although rheumatic symptoms had begun at age 20 in both, the sisters were in their 50s at the time of report. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5907200" 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="#31" class="mim-tip-reference" title="McClatchie, S., Bremner, A. D. <strong>Tumoural calcinosis--an unrecognized disease.</strong> Brit. Med. J. 1: 153-155, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762276</a>] [<a href="https://doi.org/10.1136/bmj.1.5637.142-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5762276">McClatchie and Bremner (1969)</a> reported 26 cases from Kenya, where the condition has an unusually high frequency. Until the publication of the papers by <a href="#39" class="mim-tip-reference" title="Palmer, P. E. S. <strong>Tumoural calcinosis.</strong> Brit. J. Radiol. 39: 518-525, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5941999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5941999</a>] [<a href="https://doi.org/10.1259/0007-1285-39-463-518" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5941999">Palmer (1966)</a> and <a href="#48" class="mim-tip-reference" title="Thomson, J. G. <strong>Calcifying collagenolysis (tumoural calcinosis).</strong> Brit. J. Radiol. 39: 526-532, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5942000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5942000</a>] [<a href="https://doi.org/10.1259/0007-1285-39-463-526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5942000">Thomson (1966)</a>, only 25 cases had been reported; they reported an additional 50 cases, mostly from Rhodesia, and mentioned seeing others in Nigeria and elsewhere. <a href="#31" class="mim-tip-reference" title="McClatchie, S., Bremner, A. D. <strong>Tumoural calcinosis--an unrecognized disease.</strong> Brit. Med. J. 1: 153-155, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5762276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5762276</a>] [<a href="https://doi.org/10.1136/bmj.1.5637.142-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5762276">McClatchie and Bremner (1969)</a> documented its occurrence in Uganda. Eight different Kenyan tribes were represented among 17 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5941999+5942000+5762276" 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="#33" class="mim-tip-reference" title="Melhem, R. E., Najjar, S. S., Khachadurian, A. K. <strong>Cortical hyperostosis with hyperphosphatemia: a new syndrome?</strong> J. Pediat. 77: 986-990, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5486638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5486638</a>] [<a href="https://doi.org/10.1016/s0022-3476(70)80081-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5486638">Melhem et al. (1970)</a> reported 2 unrelated children with episodic pain, swelling, and heat involving several bones of the extremities. One child had rib involvement. Radiographic examination showed periosteal reaction with hyperostosis that healed completely. Both children also had unexplained hyperphosphatemia. Osteomyelitis was ruled out in both cases. The authors suggested decreased renal tubular phosphate excretion and postulated a relation of the disorder to tumoral calcinosis. The patient reported by <a href="#18" class="mim-tip-reference" title="Goldbloom, R. B., Stein, P. B., Eisen, A., McSheffrey, J. B., St. Brown, B. S. J., Wiglesworth, F. <strong>Idiopathic periosteal hyperostosis with dysproteinemia: a new clinical entity.</strong> New Eng. J. Med. 274: 873-874, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17926866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17926866</a>] [<a href="https://doi.org/10.1056/NEJM196604212741603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17926866">Goldbloom et al. (1966)</a> as having periosteal periostosis may have also had the same disorder. <a href="#4" class="mim-tip-reference" title="Altman, H. S., Pomerance, H. H. <strong>Cortical hyperostosis with hyperphosphatemia.</strong> J. Pediat. 79: 874-875, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5116713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5116713</a>] [<a href="https://doi.org/10.1016/s0022-3476(71)80411-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5116713">Altman and Pomerance (1971)</a> suggested that the patient they reported as having chronic polyostotic periostitis (<a href="#3" class="mim-tip-reference" title="Altman, H. S., Pomerance, H. H. <strong>Chronic polyostotic periostitis of unknown etiology.</strong> Pediatrics 28: 719-741, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14036714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14036714</a>]" pmid="14036714">Altman and Pomerance, 1961</a>) may have had the same disorder, although that patient had only 1 documented episode of hyperphosphatemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5116713+14036714+5486638+17926866" 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="#21" class="mim-tip-reference" title="Hacihanefioglu, U. <strong>Tumoral calcinosis: a clinical and pathological study of eleven unreported cases in Turkey.</strong> J. Bone Joint Surg. Am. 60: 1131-1135, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/721867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">721867</a>]" pmid="721867">Hacihanefioglu (1978)</a> reported 11 patients with tumoral calcinosis from Turkey. <a href="#5" class="mim-tip-reference" title="Balachandran, S., Abbud, Y., Prince, M. J., Chausmer, A. B. <strong>Tumoral calcinosis: scintigraphic studies of an affected family.</strong> Brit. J. Radiol. 53: 960-964, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7426918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7426918</a>] [<a href="https://doi.org/10.1259/0007-1285-53-634-960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7426918">Balachandran et al. (1980)</a> reported a family in which 7 of 15 sibs were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=721867+7426918" 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="#19" class="mim-tip-reference" title="Goldfarb, S. <strong>Personal Communication.</strong> Philadelphia, Pa. 4/6/1979."None>Goldfarb (1979)</a> proposed an intrinsic defect in phosphate handling by the proximal renal tubule leading to increased reabsorption (<a href="#35" class="mim-tip-reference" title="Mitnick, P. D., Goldfarb, S., Slatopolsky, E., Lemann, J., Jr., Gray, R. W., Agus, A. S. <strong>Calcium and phosphate metabolism in tumoral calcinosis.</strong> Ann. Intern. Med. 92: 482-487, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6244768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6244768</a>] [<a href="https://doi.org/10.7326/0003-4819-92-4-482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6244768">Mitnick et al., 1980</a>; <a href="#54" class="mim-tip-reference" title="Zerwekh, J. E., Sanders, L. A., Townsend, J., Pak, C. Y. C. <strong>Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1-alpha, 25-dihydroxycholecalciferol synthesis.</strong> Calcif. Tissue Int. 32: 1-6, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6775776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6775776</a>] [<a href="https://doi.org/10.1007/BF02408515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6775776">Zerwekh et al., 1980</a>). Involvement at the shoulders and buttocks was common. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6775776+6244768" 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="#34" class="mim-tip-reference" title="Mikati, M. A., Melhem, R. E., Najjar, S. S. <strong>The syndrome of hyperostosis and hyperphosphatemia.</strong> J. Pediat. 99: 900-904, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6273518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6273518</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80013-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6273518">Mikati et al. (1981)</a> described hyperphosphatemia associated with cortical hyperostosis in 6 children. All presented with recurrent episodes of swelling, pain, and tenderness of the long bones. Bone biopsies of 3 patients showed periosteal new bone formation. Serum phosphate levels were persistently elevated and serum calcium levels were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6273518" 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="#40" class="mim-tip-reference" title="Prince, M. J., Schaefer, P. C., Goldsmith, R. S., Chausmer, A. B. <strong>Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.</strong> Ann. Intern. Med. 96: 586-591, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6896123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6896123</a>] [<a href="https://doi.org/10.7326/0003-4819-96-5-586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6896123">Prince et al. (1982)</a> reported a sibship in which 7 of 13 sibs were affected. Serum phosphorus and 1,25-dihydroxycholecalciferol concentrations were increased and parathormone and 25-hydroxycholecalciferol concentrations decreased. Balance studies indicated increased gastrointestinal absorption and decreased renal excretion of calcium and phosphorus. The authors interpreted the data to indicate a hereditary abnormality of vitamin D metabolism, and suggested a defect in the normal feedback mechanism regulating the 25-hydroxy-1-alpha-hydroxylase enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6896123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Clarke, E., Swischuk, L. E., Hayden, C. K., Jr. <strong>Tumoral calcinosis, diaphysitis, and hyperphosphatemia.</strong> Radiology 151: 643-646, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6718723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6718723</a>] [<a href="https://doi.org/10.1148/radiology.151.3.6718723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6718723">Clarke et al. (1984)</a> studied 3 black children, including 2 sibs, who presented with recurrent pain and swelling of the legs. In addition to tumoral calcinosis and hyperphosphatemia, the children showed hyperostosis of diaphyses of long bones of the leg. The authors suggested that the syndrome of hyperostosis and hyperphosphatemia reported by <a href="#34" class="mim-tip-reference" title="Mikati, M. A., Melhem, R. E., Najjar, S. S. <strong>The syndrome of hyperostosis and hyperphosphatemia.</strong> J. Pediat. 99: 900-904, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6273518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6273518</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80013-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6273518">Mikati et al. (1981)</a> was fundamentally the same disorder despite the lack of tumoral calcinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6718723+6273518" 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="#44" class="mim-tip-reference" title="Steinherz, R., Chesney, R. W., Eisenstein, B., Metzker, A., DeLuca, H. F., Phelps, M. <strong>Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.</strong> Am. J. Dis. Child. 139: 816-819, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839626</a>] [<a href="https://doi.org/10.1001/archpedi.1985.02140100078036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839626">Steinherz et al. (1985)</a> observed 5 affected persons in 2 branches of a Druze Arab kindred. The patients presented with calcified deposits in or about the hips and knees beginning in childhood. The authors concluded that serum calcitriol levels do not decline in response to hyperphosphatemia and that hyperphosphatemia with elevated renotubular reabsorption of phosphate is a constant feature of this disorder. Low phosphorus diet and oral aluminum hydroxide gel did not lower serum phosphate levels or improve the calcified deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839626" 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="#29" class="mim-tip-reference" title="Lyles, K. W., Burkes, E. J., Ellis, G. J., Lucas, K. J., Dolan, E. A., Drezner, M. C. <strong>Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.</strong> J. Clin. Endocr. Metab. 60: 1093-1096, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3998061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3998061</a>] [<a href="https://doi.org/10.1210/jcem-60-6-1093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3998061">Lyles et al. (1985)</a> studied a kindred previously reported by <a href="#32" class="mim-tip-reference" title="McPhaul, J. J., Jr., Engel, F. L. <strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong> Am. J. Med. 31: 488-492, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13774168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13774168</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90131-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13774168">McPhaul and Engel (1961)</a>. Nine affected persons were identified in 4 generations, suggesting autosomal dominant inheritance. They used a unique dental lesion as a phenotypic marker. The teeth were hypoplastic but had fully developed enamel of normal color. Panoramic x-rays showed short, bulbous roots and almost complete obliteration of pulp cavities. Histologic studies showed that dentin in the radicular portion was deposited in swirls, and true pulp stones almost completely filled the pulp cavity. Elevated serum 1,25-dihydroxyvitamin D levels were found in all affected persons even though some did not show classic findings of tumoral calcinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3998061+13774168" 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="#45" class="mim-tip-reference" title="Talab, Y. A., Mallouh, A. <strong>Hyperostosis with hyperphosphatemia: a case report and review of the literature.</strong> J. Pediat. Orthop. 8: 338-341, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3284908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3284908</a>]" pmid="3284908">Talab and Mallouh (1988)</a> reported a 6-year-old girl with hyperostosis with hyperphosphatemia and noted that only 8 other cases had been previously reported. Clinical features included repeated attacks of bone pain and swelling, radiographic findings of periosteal reaction with cortical hyperostosis, and increased serum phosphorus with normal serum calcium and parathyroid hormone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3284908" 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="#52" class="mim-tip-reference" title="Wilson, M. P., Lindsley, C. B., Warady, B. A., Johnson, J. A. <strong>Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.</strong> J. Pediat. 114: 1010-1013, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2656956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2656956</a>] [<a href="https://doi.org/10.1016/s0022-3476(89)80452-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2656956">Wilson et al. (1989)</a> reported hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis in a 9-year-old black girl. There was no family history of the disorder. The report suggested a common pathogenesis between the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2656956" 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="#42" class="mim-tip-reference" title="Slavin, R. E., Wen, J., Kumar, D., Evans, E. B. <strong>Familial tumoral calcinosis: a clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.</strong> Am. J. Surg. Path. 17: 788-802, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8338191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8338191</a>]" pmid="8338191">Slavin et al. (1993)</a> reviewed the histopathologic and ultrastructural changes of tumoral calcinosis occurring in 7 affected sibs in a sibship of 15. This was the black family cared for in Galveston, Texas, over a period of 25 years and described in the medical literature a total of 9 times (i.e., <a href="#1" class="mim-tip-reference" title="Abbud, Y., Balachandran, S., Prince, M. J., Chausmer, A. B. <strong>Scintiscans of two siblings with tumoral calcinosis.</strong> Clin. Nucl. Med. 4: 117-119, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/428164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">428164</a>] [<a href="https://doi.org/10.1097/00003072-197903000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="428164">Abbud et al., 1979</a>; <a href="#5" class="mim-tip-reference" title="Balachandran, S., Abbud, Y., Prince, M. J., Chausmer, A. B. <strong>Tumoral calcinosis: scintigraphic studies of an affected family.</strong> Brit. J. Radiol. 53: 960-964, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7426918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7426918</a>] [<a href="https://doi.org/10.1259/0007-1285-53-634-960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7426918">Balachandran et al., 1980</a>; <a href="#6" class="mim-tip-reference" title="Baldursson, H., Evans, E. B., Dodge, W. F., Jackson, W. T. <strong>Tumoral calcinosis with hyperphosphatemia: a report of a family with incidence in four siblings.</strong> J. Bone Joint Surg. Br. 51: 913-925, 1969."None>Baldursson et al., 1969</a>; <a href="#8" class="mim-tip-reference" title="Chausmer, A., Meyer, W., Prince, M. <strong>Phosphate depletion therapy in two ectopic calcification syndromes.</strong> J. Am. Coll. Nutr. 1: 275-283, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7185859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7185859</a>] [<a href="https://doi.org/10.1080/07315724.1982.10718996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7185859">Chausmer et al., 1982</a>; <a href="#10" class="mim-tip-reference" title="Clarke, E., Swischuk, L. E., Hayden, C. K., Jr. <strong>Tumoral calcinosis, diaphysitis, and hyperphosphatemia.</strong> Radiology 151: 643-646, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6718723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6718723</a>] [<a href="https://doi.org/10.1148/radiology.151.3.6718723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6718723">Clarke et al., 1984</a>; <a href="#40" class="mim-tip-reference" title="Prince, M. J., Schaefer, P. C., Goldsmith, R. S., Chausmer, A. B. <strong>Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.</strong> Ann. Intern. Med. 96: 586-591, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6896123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6896123</a>] [<a href="https://doi.org/10.7326/0003-4819-96-5-586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6896123">Prince et al., 1982</a>; <a href="#41" class="mim-tip-reference" title="Pursley, T. V., Prince, M. J., Chausmer, A. B., Raimer, S. S. <strong>Cutaneous manifestations of tumoral calcinosis.</strong> Arch. Derm. 115: 1100-1102, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/485189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">485189</a>]" pmid="485189">Pursley et al., 1979</a>; <a href="#50" class="mim-tip-reference" title="Viegas, S. F., Evans, E. B., Calhoun, J., Goodwiller, S. E. <strong>Tumoral calcinosis: a case report and review of the literature.</strong> J. Hand Surg. 10A: 744-748, 1985."None>Viegas et al., 1985</a>; <a href="#53" class="mim-tip-reference" title="Witcher, S. L., Drinkard, D. W., Shapiro, R. D., Schow, C. E., Jr. <strong>Tumoral calcinosis with unusual oral dental findings.</strong> Oral Surg. Oral Med. Oral Path. 68: 104-107, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666895</a>] [<a href="https://doi.org/10.1016/0030-4220(89)90123-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2666895">Witcher et al., 1989</a>). A useful summary of the clinical findings in the 7 patients was provided. In order of frequency for the site of first lesions, hips, elbows, shoulders, and scapulae led the list. All 7 patients has elevated serum phosphorus levels, and elevated levels of 1,25-vitamin D were detected in 3. One patient, who also had calcinosis cutis involving the antecubital, popliteal, and axillary areas and legs, died at age 19 of pulmonary hypertension. The other sibs varied in age from 20 to 40 years at the time of this report. Onset had varied from 22 months to 5 years of age. Three of the sibs were males. <a href="#42" class="mim-tip-reference" title="Slavin, R. E., Wen, J., Kumar, D., Evans, E. B. <strong>Familial tumoral calcinosis: a clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.</strong> Am. J. Surg. Path. 17: 788-802, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8338191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8338191</a>]" pmid="8338191">Slavin et al. (1993)</a> concluded that tumoral calcinosis is triggered by bleeding, followed by aggregation of foamy histiocytes. These, in turn, are transformed, with participation of collagenolysis, into cystic cavities lined by osteoclast-like giant cells and histiocytes, resulting in lesions resembling adventitious bursae. Movement and friction resulting from the periarticular location of the lesions were thought to be key to this transformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6718723+428164+7426918+8338191+485189+2666895+6896123+7185859" 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="#38" class="mim-tip-reference" title="Narchi, H. <strong>Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.</strong> Pediatrics 99: 745-748, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9113957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9113957</a>] [<a href="https://doi.org/10.1542/peds.99.5.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9113957">Narchi (1997)</a> reported 2 sisters, born of consanguineous Saudi Arabian parents, with hyperostosis with hyperphosphatemia. Symptoms first appeared at ages 8 and 5 years, respectively. The older girl had warm and tender swelling of the lower third of the right tibia which resolved after several days, but recurred 5 and 6 months later in the opposite tibia. At age 11 years, she developed a 5-cm painless swelling in her right ankle. Radiographs showed multiple loculated, calcified densities which were proven to be tumoral calcinosis on histologic examination. Her younger sister had similar symptoms and radiographs showed a laminated onion skin appearance of a periosteal reaction with porotic and mild sclerotic changes of affected bones. A third unrelated girl had recurrent nonmigratory bilateral leg and arm pain since age 6 years. All 3 patients had increased serum phosphate, normal serum parathyroid hormone, normal serum vitamin D, and normal serum calcium. The co-occurrence of tumoral calcinosis in 1 child suggested a common pathogenic abnormality. <a href="#38" class="mim-tip-reference" title="Narchi, H. <strong>Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.</strong> Pediatrics 99: 745-748, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9113957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9113957</a>] [<a href="https://doi.org/10.1542/peds.99.5.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9113957">Narchi (1997)</a> noted that the recurrent episodes of bone pain and swelling were often misdiagnosed as osteomyelitis or septic arthritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9113957" 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="#2" class="mim-tip-reference" title="Adams, W. M., Laitt, R. D., Davies, M., O'Donovan, D. G. <strong>Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation.</strong> Neuroradiology 41: 351-355, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10379593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10379593</a>] [<a href="https://doi.org/10.1007/s002340050763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10379593">Adams et al. (1999)</a> described a brother and sister of Iranian descent with histologically and radiologically proven tumoral calcinosis who presented with cerebral and peripheral aneurysms. The brother died of a ruptured subclavian artery aneurysm after surgical repair of brachial, iliofemoral, and celiac axis aneurysms. Magnetic resonance and catheter angiography in the sister demonstrated marked carotid dysplasia and a left ophthalmic segment aneurysm, not amenable to treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10379593" 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="#25" class="mim-tip-reference" title="Ichikawa, S., Imel, E. A., Sorenson, A. H., Severe, R., Knudson, P., Harris, G. J., Shaker, J. L., Econs, M. J. <strong>Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.</strong> J. Clin. Endocr. Metab. 91: 4472-4475, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940445</a>] [<a href="https://doi.org/10.1210/jc.2006-1247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16940445">Ichikawa et al. (2006)</a> reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. A radiologic skeletal survey showed no evidence of ectopic calcification or hyperostosis, but the patient was noted to have more calcified costal cartilage than typical for her age. While eyelid calcification had been described in tumoral calcinosis, the authors found no reports of the disorder presenting with isolated eyelid calcifications. <a href="#25" class="mim-tip-reference" title="Ichikawa, S., Imel, E. A., Sorenson, A. H., Severe, R., Knudson, P., Harris, G. J., Shaker, J. L., Econs, M. J. <strong>Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.</strong> J. Clin. Endocr. Metab. 91: 4472-4475, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940445</a>] [<a href="https://doi.org/10.1210/jc.2006-1247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16940445">Ichikawa et al. (2006)</a> suggested that the finding of a patient with a milder phenotype carrying mutations in GALNT3 may indicate that tumoral calcinosis is more common than had been thought, with a range of milder phenotypes. That the condition could become more aggressive in the patient could not be excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16940445" 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="#23" class="mim-tip-reference" title="Ichikawa, S., Baujat, G., Seyahi, A., Garoufali, A. G., Imel, E. A., Padgett, L. R., Austin, A. M., Sorenson, A. H., Pejin, Z., Topouchian, V., Quartier, P., Cormier-Daire, V., Dechaux, M., Malandrinou, F. C., Singhellakis, P. N., Le Merrer, M., Econs, M. J. <strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong> Am. J. Med. Genet. 152A: 896-903, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358599">Ichikawa et al. (2010)</a> reported 4 unrelated patients with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis. One child, born of first-degree cousins from Sri Lanka, presented with painful left lower leg swelling which was found to be hyperostosis of the tibia with circumferential endosteal and periosteal bone formation; there was evidence of infection. In the following 2 years, she developed periarticular calcified lesions in the elbow, consistent with tumoral calcinosis. Another patient was a Greek woman who presented at age 8 years with a tibial lesion involving the cortical and trabecular bones with subperiosteal ossification. At age 14, she had subcutaneous calcified lesions of the upper thigh and left hand. Laboratory studies in both patients showed increased serum phosphorus, normal calcium, and inappropriately low/normal 1,25-(OH)2D. There were also low levels of intact circulating FGF23 and increased C-terminal FGF23 fragments. <a href="#23" class="mim-tip-reference" title="Ichikawa, S., Baujat, G., Seyahi, A., Garoufali, A. G., Imel, E. A., Padgett, L. R., Austin, A. M., Sorenson, A. H., Pejin, Z., Topouchian, V., Quartier, P., Cormier-Daire, V., Dechaux, M., Malandrinou, F. C., Singhellakis, P. N., Le Merrer, M., Econs, M. J. <strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong> Am. J. Med. Genet. 152A: 896-903, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358599">Ichikawa et al. (2010)</a> concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358599" 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="#36" class="mim-tip-reference" title="Mozaffarian, G., Lafferty, F. W., Pearson, O. H. <strong>Treatment of tumoral calcinosis with phosphorus deprivation.</strong> Ann. Intern. Med. 77: 741-745, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4538804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4538804</a>] [<a href="https://doi.org/10.7326/0003-4819-77-5-741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4538804">Mozaffarian et al. (1972)</a> proposed treatment with a low-phosphorus diet combined with large oral doses of aluminum hydroxide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4538804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review, <a href="#30" class="mim-tip-reference" title="Martinez, S. <strong>Tumoral calcinosis: 12 years later.</strong> Sem. Musculoskeletal Radiol. 6: 331-339, 2002."None>Martinez (2002)</a> noted that regression of the masses has been reported after treatment with phosphate-binding antacids (aluminum hydroxide) together with dietary phosphate and calcium deprivation (<a href="#36" class="mim-tip-reference" title="Mozaffarian, G., Lafferty, F. W., Pearson, O. H. <strong>Treatment of tumoral calcinosis with phosphorus deprivation.</strong> Ann. Intern. Med. 77: 741-745, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4538804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4538804</a>] [<a href="https://doi.org/10.7326/0003-4819-77-5-741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4538804">Mozaffarian et al., 1972</a>; <a href="#12" class="mim-tip-reference" title="Davies, M., Clements, M. R., Mawer, E. B., Freemont, A. J. <strong>Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation.</strong> Quart. J. Med. 63: 493-503, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3659264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3659264</a>]" pmid="3659264">Davies et al., 1987</a>; <a href="#20" class="mim-tip-reference" title="Gregosiewicz, A., Warda, E. <strong>Tumoral calcinosis: successful medical treatment: a case report.</strong> J. Bone Joint Surg. Am. 71: 1244-1249, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2777854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2777854</a>]" pmid="2777854">Gregosiewicz and Warda, 1989</a>). Reducing phosphate levels in this way can also assist in preventing recurrence of the calcific mass. Calcific masses are excised when appropriate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3659264+4538804+2777854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The product of the GALNT3 gene may not be the sole regulator of phosphate homeostasis in peripheral tissues, as tumoral calcinosis can also present with normal blood phosphate levels. Using haplotype analysis in 4 families with normophosphatemic familial tumoral calcinosis, <a href="#49" class="mim-tip-reference" title="Topaz, O., Shurman, D. L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., Sprecher, E. <strong>Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.</strong> Nature Genet. 36: 579-581, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15133511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15133511</a>] [<a href="https://doi.org/10.1038/ng1358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15133511">Topaz et al. (2004)</a> excluded linkage of this variant to 2q24-q31, suggesting that normophosphatemic and hyperphosphatemic familial tumoral calcinosis may be caused by mutation in different genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15133511" 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="#49" class="mim-tip-reference" title="Topaz, O., Shurman, D. L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., Sprecher, E. <strong>Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.</strong> Nature Genet. 36: 579-581, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15133511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15133511</a>] [<a href="https://doi.org/10.1038/ng1358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15133511">Topaz et al. (2004)</a> studied the large Druze and African American kindreds with familial tumoral calcinosis described by <a href="#44" class="mim-tip-reference" title="Steinherz, R., Chesney, R. W., Eisenstein, B., Metzker, A., DeLuca, H. F., Phelps, M. <strong>Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.</strong> Am. J. Dis. Child. 139: 816-819, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839626</a>] [<a href="https://doi.org/10.1001/archpedi.1985.02140100078036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839626">Steinherz et al. (1985)</a> and <a href="#42" class="mim-tip-reference" title="Slavin, R. E., Wen, J., Kumar, D., Evans, E. B. <strong>Familial tumoral calcinosis: a clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.</strong> Am. J. Surg. Path. 17: 788-802, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8338191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8338191</a>]" pmid="8338191">Slavin et al. (1993)</a>, respectively. They mapped the gene underlying the disorder to 2q24-q31 and demonstrated biallelic deleterious mutations in the GALNT3 gene (<a href="/entry/601756#0001">601756.0001</a>-<a href="/entry/601756#0003">601756.0003</a>) in all affected individuals. The GALNT3 gene encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation, suggesting that defective posttranslational modification underlies this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3839626+15133511+8338191" 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 affected members of a multigenerational family previously reported by <a href="#32" class="mim-tip-reference" title="McPhaul, J. J., Jr., Engel, F. L. <strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong> Am. J. Med. 31: 488-492, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13774168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13774168</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90131-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13774168">McPhaul and Engel (1961)</a> and <a href="#29" class="mim-tip-reference" title="Lyles, K. W., Burkes, E. J., Ellis, G. J., Lucas, K. J., Dolan, E. A., Drezner, M. C. <strong>Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.</strong> J. Clin. Endocr. Metab. 60: 1093-1096, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3998061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3998061</a>] [<a href="https://doi.org/10.1210/jcem-60-6-1093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3998061">Lyles et al. (1985)</a>, <a href="#26" class="mim-tip-reference" title="Ichikawa, S., Lyles, K. W., Econs, M. J. <strong>A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.</strong> J. Clin. Endocr. Metab. 90: 2420-2423, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15687324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15687324</a>] [<a href="https://doi.org/10.1210/jc.2004-2302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15687324">Ichikawa et al. (2005)</a> identified biallelic mutations in the GALNT3 gene. The proband was compound heterozygous for 2 mutations (<a href="/entry/601756#0002">601756.0002</a> and <a href="/entry/601756#0004">601756.0004</a>), and the affected maternal great uncle was homozygous for 1 of the mutations (<a href="/entry/601756#0004">601756.0004</a>). The family had originally been thought to show autosomal dominant inheritance, but biallelic mutations found in 2 generations demonstrated that the family had pseudoautosomal dominant inheritance. The findings confirmed that tumoral calcinosis is in fact an autosomal recessive trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15687324+3998061+13774168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome, <a href="#15" class="mim-tip-reference" title="Frishberg, Y., Topaz, O., Bergman, R., Behar, D., Fisher, D., Gordon, D., Richard, G., Sprecher, E. <strong>Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.</strong> J. Molec. Med. 83: 33-38, 2005. Note: Erratum: J. Molec. Med. 83: 240 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15599692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15599692</a>] [<a href="https://doi.org/10.1007/s00109-004-0610-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15599692">Frishberg et al. (2005)</a> identified homozygosity for a mutation in the GALNT3 gene (<a href="/entry/601756#0001">601756.0001</a>). The mutation had previously been identified in a large Druze family with HFTC, indicating that the 2 disorders are allelic. Haplotype analysis confirmed a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15599692" 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="#43" class="mim-tip-reference" title="Specktor, P., Cooper, J. G., Indelman, M., Sprecher, E. <strong>Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.</strong> J. Hum. Genet. 51: 487-490, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528452</a>] [<a href="https://doi.org/10.1007/s10038-006-0377-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528452">Specktor et al. (2006)</a> identified a homozygous mutation in the GALNT3 gene (<a href="/entry/601756#0005">601756.0005</a>) in an HFTC patient of northern European origin, suggesting that the disease may have a wider geographic distribution than previously thought. The 32-year-old man had severe joint disease and dental anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528452" 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="#25" class="mim-tip-reference" title="Ichikawa, S., Imel, E. A., Sorenson, A. H., Severe, R., Knudson, P., Harris, G. J., Shaker, J. L., Econs, M. J. <strong>Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.</strong> J. Clin. Endocr. Metab. 91: 4472-4475, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16940445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16940445</a>] [<a href="https://doi.org/10.1210/jc.2006-1247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16940445">Ichikawa et al. (2006)</a> reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis who was compound heterozygous for missense mutations in the GALNT3 gene (see <a href="/entry/601756#0008">601756.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16940445" 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="#23" class="mim-tip-reference" title="Ichikawa, S., Baujat, G., Seyahi, A., Garoufali, A. G., Imel, E. A., Padgett, L. R., Austin, A. M., Sorenson, A. H., Pejin, Z., Topouchian, V., Quartier, P., Cormier-Daire, V., Dechaux, M., Malandrinou, F. C., Singhellakis, P. N., Le Merrer, M., Econs, M. J. <strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong> Am. J. Med. Genet. 152A: 896-903, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358599">Ichikawa et al. (2010)</a> reported 4 unrelated patients with hyperphosphatemia and recurrent calcified deposits in the bones or soft tissue associated with homozygous mutations in the GALNT3 gene (see, e.g., <a href="/entry/601756#0011">601756.0011</a>-<a href="/entry/601756#0012">601756.0012</a>). One patient had a diagnosis of tumoral calcinosis, 1 hyperostosis-hyperphosphatemia syndrome, and 2 had diagnosis of both disorders. There were low levels of intact serum FGF23 and high levels of C-terminal FGF23 fragments in all 3 patients examined. <a href="#23" class="mim-tip-reference" title="Ichikawa, S., Baujat, G., Seyahi, A., Garoufali, A. G., Imel, E. A., Padgett, L. R., Austin, A. M., Sorenson, A. H., Pejin, Z., Topouchian, V., Quartier, P., Cormier-Daire, V., Dechaux, M., Malandrinou, F. C., Singhellakis, P. N., Le Merrer, M., Econs, M. J. <strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong> Am. J. Med. Genet. 152A: 896-903, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358599</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20358599[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358599">Ichikawa et al. (2010)</a> concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Ichikawa2007" class="mim-tip-reference" title="Ichikawa, S., Imel, E. A., Kreiter, M. L., Yu, X., Mackenzie, D. S., Sorenson, A. H., Goetz, R., Mohammadi, M., White, K. E., Econs, M. J. <strong>A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.</strong> J. Clin. Invest. 117: 2684-2691, 2007.">Ichikawa et al. (2007)</a>; <a href="#Teutschlaender1949" class="mim-tip-reference" title="Teutschlaender, O. <strong>Die Lipoidocalcinosis oder Lipoidkalkgicht (Lipocalcinogranulomatose).</strong> Beitr. Path. Anat. 110: 402-432, 1949.">Teutschlaender (1949)</a>
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Clin. Nucl. Med. 4: 117-119, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/428164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">428164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=428164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33337" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2006-1247" target="_blank">Full Text</a>]
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Pursley, T. V., Prince, M. J., Chausmer, A. B., Raimer, S. S.
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<strong>Cutaneous manifestations of tumoral calcinosis.</strong>
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Arch. Derm. 115: 1100-1102, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/485189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">485189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=485189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="42" class="mim-anchor"></a>
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<a id="Slavin1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Slavin, R. E., Wen, J., Kumar, D., Evans, E. B.
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<strong>Familial tumoral calcinosis: a clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.</strong>
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Am. J. Surg. Path. 17: 788-802, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8338191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8338191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8338191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Specktor2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Specktor, P., Cooper, J. G., Indelman, M., Sprecher, E.
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<strong>Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528452" 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/s10038-006-0377-6" target="_blank">Full Text</a>]
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<a id="44" class="mim-anchor"></a>
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<a id="Steinherz1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinherz, R., Chesney, R. W., Eisenstein, B., Metzker, A., DeLuca, H. F., Phelps, M.
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<strong>Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.</strong>
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Am. J. Dis. Child. 139: 816-819, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839626" 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.1985.02140100078036" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
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<a id="Talab1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Talab, Y. A., Mallouh, A.
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<strong>Hyperostosis with hyperphosphatemia: a case report and review of the literature.</strong>
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J. Pediat. Orthop. 8: 338-341, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3284908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3284908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3284908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="46" class="mim-anchor"></a>
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<a id="Teutschlaender1935" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Teutschlaender, O.
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<strong>Ueber progressive Lipogranulomatose der Muskulatur.</strong>
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Klin. Wschr. 14: 451-453, 1935.
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<a id="47" class="mim-anchor"></a>
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<a id="Teutschlaender1949" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Teutschlaender, O.
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<strong>Die Lipoidocalcinosis oder Lipoidkalkgicht (Lipocalcinogranulomatose).</strong>
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Beitr. Path. Anat. 110: 402-432, 1949.
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<a id="48" class="mim-anchor"></a>
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<a id="Thomson1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomson, J. G.
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<strong>Calcifying collagenolysis (tumoural calcinosis).</strong>
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Brit. J. Radiol. 39: 526-532, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5942000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5942000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5942000" 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/10.1259/0007-1285-39-463-526" target="_blank">Full Text</a>]
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<a id="Topaz2004" class="mim-anchor"></a>
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Topaz, O., Shurman, D. L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., Sprecher, E.
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<strong>Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.</strong>
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Nature Genet. 36: 579-581, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15133511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15133511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15133511" 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/ng1358" target="_blank">Full Text</a>]
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<a id="50" class="mim-anchor"></a>
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<a id="Viegas1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Viegas, S. F., Evans, E. B., Calhoun, J., Goodwiller, S. E.
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<strong>Tumoral calcinosis: a case report and review of the literature.</strong>
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J. Hand Surg. 10A: 744-748, 1985.
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<a id="51" class="mim-anchor"></a>
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<a id="Wilber1968" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wilber, J. F., Slatopolsky, E.
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<strong>Hyperphosphatemia and tumoral calcinosis.</strong>
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Ann. Intern. Med. 68: 1044-1049, 1968.
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<a id="Wilson1989" class="mim-anchor"></a>
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Wilson, M. P., Lindsley, C. B., Warady, B. A., Johnson, J. A.
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<strong>Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.</strong>
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J. Pediat. 114: 1010-1013, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2656956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2656956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2656956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(89)80452-4" target="_blank">Full Text</a>]
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<a id="Witcher1989" class="mim-anchor"></a>
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Witcher, S. L., Drinkard, D. W., Shapiro, R. D., Schow, C. E., Jr.
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<strong>Tumoral calcinosis with unusual oral dental findings.</strong>
|
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Oral Surg. Oral Med. Oral Path. 68: 104-107, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2666895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0030-4220(89)90123-0" target="_blank">Full Text</a>]
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<a id="54" class="mim-anchor"></a>
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<a id="Zerwekh1980" class="mim-anchor"></a>
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Zerwekh, J. E., Sanders, L. A., Townsend, J., Pak, C. Y. C.
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<strong>Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1-alpha, 25-dihydroxycholecalciferol synthesis.</strong>
|
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Calcif. Tissue Int. 32: 1-6, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6775776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6775776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6775776" 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/BF02408515" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/11/2010
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Cassandra L. Kniffin - updated : 11/13/2007<br>John A. Phillips, III - updated : 11/8/2007<br>Cassandra L. Kniffin - updated : 7/7/2006<br>George E. Tiller - updated : 5/19/2005<br>Victor A. McKusick - updated : 5/14/2004<br>Victor A. McKusick - updated : 10/25/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 05/29/2018
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carol : 05/23/2018<br>carol : 09/09/2016<br>mcolton : 03/04/2015<br>terry : 11/13/2012<br>carol : 1/14/2011<br>wwang : 11/16/2010<br>ckniffin : 11/11/2010<br>ckniffin : 11/9/2010<br>terry : 6/3/2009<br>carol : 12/19/2008<br>wwang : 12/12/2007<br>ckniffin : 11/13/2007<br>alopez : 11/8/2007<br>ckniffin : 9/12/2007<br>terry : 11/15/2006<br>carol : 7/18/2006<br>ckniffin : 7/18/2006<br>ckniffin : 7/7/2006<br>tkritzer : 5/20/2005<br>terry : 5/19/2005<br>alopez : 5/28/2004<br>alopez : 5/19/2004<br>alopez : 5/18/2004<br>terry : 5/14/2004<br>alopez : 3/18/2004<br>ckniffin : 8/27/2003<br>carol : 10/25/1999<br>alopez : 6/10/1997<br>mark : 4/30/1996<br>terry : 4/22/1996<br>davew : 7/11/1994<br>carol : 4/19/1994<br>terry : 4/18/1994<br>warfield : 4/15/1994<br>carol : 10/20/1993
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TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1
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<em>Alternative titles; symbols</em>
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TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC<br />
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CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA<br />
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TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC<br />
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LIPOCALCINOGRANULOMATOSIS<br />
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TEUTSCHLAENDER DISEASE, FAMILIAL<br />
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MORBUS TEUTSCHLAENDER<br />
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HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS<br />
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HYPEROSTOSIS WITH HYPERPHOSPHATEMIA<br />
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CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
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<strong>SNOMEDCT:</strong> 860796007;
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<strong>ORPHA:</strong> 306661, 53715;
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<strong>DO:</strong> 0111063;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q24.3
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<td>
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<span class="mim-font">
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Tumoral calcinosis, hyperphosphatemic, familial, 1
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211900
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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GALNT3
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<span class="mim-font">
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601756
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hyperphosphatemic familial tumoral calcinosis-1 (HFTC1) is caused by homozygous or compound heterozygous mutation in the GALNT3 gene (601756) on chromosome 2q24.</p>
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<strong>Description</strong>
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<p>Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. </p><p>HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). </p><p><strong><em>Genetic Heterogeneity of Hyperphosphatemic Familial Tumoral Calcinosis</em></strong></p><p>
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Also see HFTC2 (617993), caused by mutation in the FGF23 gene (605380) on chromosome 12p13, and HFTC3 (617994), caused by mutation in the KL gene (604824) on chromosome 13q13. Most cases are caused by mutation in the GALNT3 gene.</p>
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<strong>Clinical Features</strong>
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<p>Inclan et al. (1943) first gave the name 'tumoral calcinosis' to this condition, which was first described by Giard (1898) and then by Duret (1899). Ghormley (1942) reported multiple affected sibs.</p><p>Baldursson et al. (1969) observed 4 affected sibs out of 12 in a black family. Hyperphosphatemia was documented as early as 21 months of age in one of them in whom tumoral calcinosis appeared at 4 years of age. A majority of the cases of this condition reported in the Anglo-American literature have been in blacks. Other familial cases were reported by Barton and Reeves (1961), Harkess and Peters (1967), and Wilber and Slatopolsky (1968). Dodge et al. (1965) described 3 sibs with heterotopic calcification, hyperphosphatemia, unresponsiveness to parathyroid hormone (PTH; 168450), and elevated renal tubular maximum for phosphate reabsorption. Stigmata of Albright hereditary osteodystrophy (AHO; see 103580) were not present. </p><p>Some reported patients have had angioid streaks of the retina (see 607140) (McPhaul and Engel, 1961). This is consistent with the view that angioid streaks in pseudoxanthoma elasticum (PXE; 264800), sickle cell anemia (603903), and Paget disease (167250) are due to a brittle state of Bruch membrane produced by deposition of calcium, iron, and perhaps other cations. </p><p>McPhaul and Engel (1961) reported affected brothers; in another family the proband's paternal grandfather was thought to have been affected and he was related to a family reported as PXE. From Beirut, Najjar et al. (1968) described 2 sibs with periarticular calcified masses, increased blood phosphorus, normal blood calcium, calcified vessels, and skin changes of PXE. The parents may have been related. An aunt was said to have heterotopic calcification. In a review of the radiologic findings of PXE, James et al. (1969) pictured a large calcified mass in the region of the elbow. The patient probably had the entity discussed here, which was called 'lipocalcinogranulomatose' by Teutschlaender (1935). </p><p>Collard (1966) described 2 affected sisters in a sibship of 5. Calcification of the media was limited to arteries of the leg. The parents were normal and unrelated. Large calcified tophus-like nodules were situated around the joints of the fingers and toes. Although rheumatic symptoms had begun at age 20 in both, the sisters were in their 50s at the time of report. </p><p>McClatchie and Bremner (1969) reported 26 cases from Kenya, where the condition has an unusually high frequency. Until the publication of the papers by Palmer (1966) and Thomson (1966), only 25 cases had been reported; they reported an additional 50 cases, mostly from Rhodesia, and mentioned seeing others in Nigeria and elsewhere. McClatchie and Bremner (1969) documented its occurrence in Uganda. Eight different Kenyan tribes were represented among 17 cases. </p><p>Melhem et al. (1970) reported 2 unrelated children with episodic pain, swelling, and heat involving several bones of the extremities. One child had rib involvement. Radiographic examination showed periosteal reaction with hyperostosis that healed completely. Both children also had unexplained hyperphosphatemia. Osteomyelitis was ruled out in both cases. The authors suggested decreased renal tubular phosphate excretion and postulated a relation of the disorder to tumoral calcinosis. The patient reported by Goldbloom et al. (1966) as having periosteal periostosis may have also had the same disorder. Altman and Pomerance (1971) suggested that the patient they reported as having chronic polyostotic periostitis (Altman and Pomerance, 1961) may have had the same disorder, although that patient had only 1 documented episode of hyperphosphatemia. </p><p>Hacihanefioglu (1978) reported 11 patients with tumoral calcinosis from Turkey. Balachandran et al. (1980) reported a family in which 7 of 15 sibs were affected. </p><p>Goldfarb (1979) proposed an intrinsic defect in phosphate handling by the proximal renal tubule leading to increased reabsorption (Mitnick et al., 1980; Zerwekh et al., 1980). Involvement at the shoulders and buttocks was common. </p><p>Mikati et al. (1981) described hyperphosphatemia associated with cortical hyperostosis in 6 children. All presented with recurrent episodes of swelling, pain, and tenderness of the long bones. Bone biopsies of 3 patients showed periosteal new bone formation. Serum phosphate levels were persistently elevated and serum calcium levels were normal. </p><p>Prince et al. (1982) reported a sibship in which 7 of 13 sibs were affected. Serum phosphorus and 1,25-dihydroxycholecalciferol concentrations were increased and parathormone and 25-hydroxycholecalciferol concentrations decreased. Balance studies indicated increased gastrointestinal absorption and decreased renal excretion of calcium and phosphorus. The authors interpreted the data to indicate a hereditary abnormality of vitamin D metabolism, and suggested a defect in the normal feedback mechanism regulating the 25-hydroxy-1-alpha-hydroxylase enzyme. </p><p>Clarke et al. (1984) studied 3 black children, including 2 sibs, who presented with recurrent pain and swelling of the legs. In addition to tumoral calcinosis and hyperphosphatemia, the children showed hyperostosis of diaphyses of long bones of the leg. The authors suggested that the syndrome of hyperostosis and hyperphosphatemia reported by Mikati et al. (1981) was fundamentally the same disorder despite the lack of tumoral calcinosis. </p><p>Steinherz et al. (1985) observed 5 affected persons in 2 branches of a Druze Arab kindred. The patients presented with calcified deposits in or about the hips and knees beginning in childhood. The authors concluded that serum calcitriol levels do not decline in response to hyperphosphatemia and that hyperphosphatemia with elevated renotubular reabsorption of phosphate is a constant feature of this disorder. Low phosphorus diet and oral aluminum hydroxide gel did not lower serum phosphate levels or improve the calcified deposits. </p><p>Lyles et al. (1985) studied a kindred previously reported by McPhaul and Engel (1961). Nine affected persons were identified in 4 generations, suggesting autosomal dominant inheritance. They used a unique dental lesion as a phenotypic marker. The teeth were hypoplastic but had fully developed enamel of normal color. Panoramic x-rays showed short, bulbous roots and almost complete obliteration of pulp cavities. Histologic studies showed that dentin in the radicular portion was deposited in swirls, and true pulp stones almost completely filled the pulp cavity. Elevated serum 1,25-dihydroxyvitamin D levels were found in all affected persons even though some did not show classic findings of tumoral calcinosis. </p><p>Talab and Mallouh (1988) reported a 6-year-old girl with hyperostosis with hyperphosphatemia and noted that only 8 other cases had been previously reported. Clinical features included repeated attacks of bone pain and swelling, radiographic findings of periosteal reaction with cortical hyperostosis, and increased serum phosphorus with normal serum calcium and parathyroid hormone. </p><p>Wilson et al. (1989) reported hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis in a 9-year-old black girl. There was no family history of the disorder. The report suggested a common pathogenesis between the 2 disorders. </p><p>Slavin et al. (1993) reviewed the histopathologic and ultrastructural changes of tumoral calcinosis occurring in 7 affected sibs in a sibship of 15. This was the black family cared for in Galveston, Texas, over a period of 25 years and described in the medical literature a total of 9 times (i.e., Abbud et al., 1979; Balachandran et al., 1980; Baldursson et al., 1969; Chausmer et al., 1982; Clarke et al., 1984; Prince et al., 1982; Pursley et al., 1979; Viegas et al., 1985; Witcher et al., 1989). A useful summary of the clinical findings in the 7 patients was provided. In order of frequency for the site of first lesions, hips, elbows, shoulders, and scapulae led the list. All 7 patients has elevated serum phosphorus levels, and elevated levels of 1,25-vitamin D were detected in 3. One patient, who also had calcinosis cutis involving the antecubital, popliteal, and axillary areas and legs, died at age 19 of pulmonary hypertension. The other sibs varied in age from 20 to 40 years at the time of this report. Onset had varied from 22 months to 5 years of age. Three of the sibs were males. Slavin et al. (1993) concluded that tumoral calcinosis is triggered by bleeding, followed by aggregation of foamy histiocytes. These, in turn, are transformed, with participation of collagenolysis, into cystic cavities lined by osteoclast-like giant cells and histiocytes, resulting in lesions resembling adventitious bursae. Movement and friction resulting from the periarticular location of the lesions were thought to be key to this transformation. </p><p>Narchi (1997) reported 2 sisters, born of consanguineous Saudi Arabian parents, with hyperostosis with hyperphosphatemia. Symptoms first appeared at ages 8 and 5 years, respectively. The older girl had warm and tender swelling of the lower third of the right tibia which resolved after several days, but recurred 5 and 6 months later in the opposite tibia. At age 11 years, she developed a 5-cm painless swelling in her right ankle. Radiographs showed multiple loculated, calcified densities which were proven to be tumoral calcinosis on histologic examination. Her younger sister had similar symptoms and radiographs showed a laminated onion skin appearance of a periosteal reaction with porotic and mild sclerotic changes of affected bones. A third unrelated girl had recurrent nonmigratory bilateral leg and arm pain since age 6 years. All 3 patients had increased serum phosphate, normal serum parathyroid hormone, normal serum vitamin D, and normal serum calcium. The co-occurrence of tumoral calcinosis in 1 child suggested a common pathogenic abnormality. Narchi (1997) noted that the recurrent episodes of bone pain and swelling were often misdiagnosed as osteomyelitis or septic arthritis. </p><p>Adams et al. (1999) described a brother and sister of Iranian descent with histologically and radiologically proven tumoral calcinosis who presented with cerebral and peripheral aneurysms. The brother died of a ruptured subclavian artery aneurysm after surgical repair of brachial, iliofemoral, and celiac axis aneurysms. Magnetic resonance and catheter angiography in the sister demonstrated marked carotid dysplasia and a left ophthalmic segment aneurysm, not amenable to treatment. </p><p>Ichikawa et al. (2006) reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. A radiologic skeletal survey showed no evidence of ectopic calcification or hyperostosis, but the patient was noted to have more calcified costal cartilage than typical for her age. While eyelid calcification had been described in tumoral calcinosis, the authors found no reports of the disorder presenting with isolated eyelid calcifications. Ichikawa et al. (2006) suggested that the finding of a patient with a milder phenotype carrying mutations in GALNT3 may indicate that tumoral calcinosis is more common than had been thought, with a range of milder phenotypes. That the condition could become more aggressive in the patient could not be excluded. </p><p>Ichikawa et al. (2010) reported 4 unrelated patients with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis. One child, born of first-degree cousins from Sri Lanka, presented with painful left lower leg swelling which was found to be hyperostosis of the tibia with circumferential endosteal and periosteal bone formation; there was evidence of infection. In the following 2 years, she developed periarticular calcified lesions in the elbow, consistent with tumoral calcinosis. Another patient was a Greek woman who presented at age 8 years with a tibial lesion involving the cortical and trabecular bones with subperiosteal ossification. At age 14, she had subcutaneous calcified lesions of the upper thigh and left hand. Laboratory studies in both patients showed increased serum phosphorus, normal calcium, and inappropriately low/normal 1,25-(OH)2D. There were also low levels of intact circulating FGF23 and increased C-terminal FGF23 fragments. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23. </p>
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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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<p>Mozaffarian et al. (1972) proposed treatment with a low-phosphorus diet combined with large oral doses of aluminum hydroxide. </p><p>In a review, Martinez (2002) noted that regression of the masses has been reported after treatment with phosphate-binding antacids (aluminum hydroxide) together with dietary phosphate and calcium deprivation (Mozaffarian et al., 1972; Davies et al., 1987; Gregosiewicz and Warda, 1989). Reducing phosphate levels in this way can also assist in preventing recurrence of the calcific mass. Calcific masses are excised when appropriate. </p>
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<h4>
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<span class="mim-font">
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<strong>Heterogeneity</strong>
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</h4>
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<span class="mim-text-font">
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<p>The product of the GALNT3 gene may not be the sole regulator of phosphate homeostasis in peripheral tissues, as tumoral calcinosis can also present with normal blood phosphate levels. Using haplotype analysis in 4 families with normophosphatemic familial tumoral calcinosis, Topaz et al. (2004) excluded linkage of this variant to 2q24-q31, suggesting that normophosphatemic and hyperphosphatemic familial tumoral calcinosis may be caused by mutation in different genes. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Topaz et al. (2004) studied the large Druze and African American kindreds with familial tumoral calcinosis described by Steinherz et al. (1985) and Slavin et al. (1993), respectively. They mapped the gene underlying the disorder to 2q24-q31 and demonstrated biallelic deleterious mutations in the GALNT3 gene (601756.0001-601756.0003) in all affected individuals. The GALNT3 gene encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation, suggesting that defective posttranslational modification underlies this disorder. </p><p>In affected members of a multigenerational family previously reported by McPhaul and Engel (1961) and Lyles et al. (1985), Ichikawa et al. (2005) identified biallelic mutations in the GALNT3 gene. The proband was compound heterozygous for 2 mutations (601756.0002 and 601756.0004), and the affected maternal great uncle was homozygous for 1 of the mutations (601756.0004). The family had originally been thought to show autosomal dominant inheritance, but biallelic mutations found in 2 generations demonstrated that the family had pseudoautosomal dominant inheritance. The findings confirmed that tumoral calcinosis is in fact an autosomal recessive trait. </p><p>In 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome, Frishberg et al. (2005) identified homozygosity for a mutation in the GALNT3 gene (601756.0001). The mutation had previously been identified in a large Druze family with HFTC, indicating that the 2 disorders are allelic. Haplotype analysis confirmed a founder effect. </p><p>Specktor et al. (2006) identified a homozygous mutation in the GALNT3 gene (601756.0005) in an HFTC patient of northern European origin, suggesting that the disease may have a wider geographic distribution than previously thought. The 32-year-old man had severe joint disease and dental anomalies. </p><p>Ichikawa et al. (2006) reported a 25-year-old female patient who presented with eyelid calcification and biochemical features of tumoral calcinosis who was compound heterozygous for missense mutations in the GALNT3 gene (see 601756.0008). </p><p>Ichikawa et al. (2010) reported 4 unrelated patients with hyperphosphatemia and recurrent calcified deposits in the bones or soft tissue associated with homozygous mutations in the GALNT3 gene (see, e.g., 601756.0011-601756.0012). One patient had a diagnosis of tumoral calcinosis, 1 hyperostosis-hyperphosphatemia syndrome, and 2 had diagnosis of both disorders. There were low levels of intact serum FGF23 and high levels of C-terminal FGF23 fragments in all 3 patients examined. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia and tumoral calcinosis represent a continuous spectrum of the same disease caused by loss of GALNT3 function and low circulating intact FGF23. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Ichikawa et al. (2007); Teutschlaender (1949)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abbud, Y., Balachandran, S., Prince, M. J., Chausmer, A. B.
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<strong>Scintiscans of two siblings with tumoral calcinosis.</strong>
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Clin. Nucl. Med. 4: 117-119, 1979.
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[PubMed: 428164]
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[Full Text: https://doi.org/10.1097/00003072-197903000-00008]
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<li>
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<p class="mim-text-font">
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Adams, W. M., Laitt, R. D., Davies, M., O'Donovan, D. G.
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<strong>Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation.</strong>
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Neuroradiology 41: 351-355, 1999.
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[PubMed: 10379593]
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[Full Text: https://doi.org/10.1007/s002340050763]
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<li>
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<p class="mim-text-font">
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Altman, H. S., Pomerance, H. H.
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<strong>Chronic polyostotic periostitis of unknown etiology.</strong>
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Pediatrics 28: 719-741, 1961.
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[PubMed: 14036714]
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<li>
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<p class="mim-text-font">
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Altman, H. S., Pomerance, H. H.
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<strong>Cortical hyperostosis with hyperphosphatemia.</strong>
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J. Pediat. 79: 874-875, 1971.
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[PubMed: 5116713]
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[Full Text: https://doi.org/10.1016/s0022-3476(71)80411-0]
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<li>
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<p class="mim-text-font">
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Balachandran, S., Abbud, Y., Prince, M. J., Chausmer, A. B.
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<strong>Tumoral calcinosis: scintigraphic studies of an affected family.</strong>
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Brit. J. Radiol. 53: 960-964, 1980.
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[PubMed: 7426918]
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Topaz, O., Shurman, D. L., Bergman, R., Indelman, M., Ratajczak, P., Mizrachi, M., Khamaysi, Z., Behar, D., Petronius, D., Friedman, V., Zelikovic, I., Raimer, S., Metzker, A., Richard, G., Sprecher, E.
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Cassandra L. Kniffin - updated : 11/11/2010<br>Cassandra L. Kniffin - updated : 11/13/2007<br>John A. Phillips, III - updated : 11/8/2007<br>Cassandra L. Kniffin - updated : 7/7/2006<br>George E. Tiller - updated : 5/19/2005<br>Victor A. McKusick - updated : 5/14/2004<br>Victor A. McKusick - updated : 10/25/1999
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