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Entry
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- *601756 - UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3
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<p>
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<span class="h4">*601756</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601756">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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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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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000115339;t=ENST00000392701" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2591" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601756" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000115339;t=ENST00000392701" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004482,XM_005246449,XM_011510929,XM_017003770,XM_047443883" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004482" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601756" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=03453&isoform_id=03453_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/GALNT3" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1617312,33604104,51490862,62822129,109731077,109731742,119631728,119631729,153266878,189066640,209572629,530370133,767917486,1034612964,2217326845" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q14435" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=2591" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000115339;t=ENST00000392701" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=GALNT3" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=GALNT3" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2591" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/GALNT3" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:2591" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2591" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000392701.8&hgg_start=165747588&hgg_end=165794692&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" 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="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4125" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4125" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/galnt3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601756[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>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601756[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000115339" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=GALNT3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=GALNT3" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GALNT3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GALNT3&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA28538" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4125" 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="https://flybase.org/reports/FBgn0027558.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:894695" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/GALNT3#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:894695" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2591/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2591" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-120313-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2591" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=GALNT3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601756
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GalNAc TRANSFERASE 3; GalNAcT3<br />
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POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GALNT3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GALNT3</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/738?start=-3&limit=10&highlight=738">2q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:165747588-165794692&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:165,747,588-165,794,692</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/738?start=-3&limit=10&highlight=738">
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2q24.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Tumoral calcinosis, hyperphosphatemic, familial, 1
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/211900"> 211900 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601756" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601756" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<p>GALNT3 (<a href="https://enzyme.expasy.org/EC/2.4.1.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.41</a>) is one of several enzymes that catalyze the reaction UDP-GalNAc + polypeptide-(Ser/Thr)-OH to GalNAc-alpha-O-Ser/Thr-polypeptide + UDP, thereby initiating O-glycosylation of serine and threonine residues on an array of glycoproteins.</p>
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<p><a href="#2" class="mim-tip-reference" title="Bennett, E. P., Hassan, H,., Clausen, H. <strong>cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine.</strong> J. Biol. Chem. 271: 17006-17012, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8663203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8663203</a>] [<a href="https://doi.org/10.1074/jbc.271.29.17006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8663203">Bennett et al. (1996)</a> used degenerate PCR to clone human GALNT3 using primers based on the sequences of GALNT1 (<a href="/entry/602273">602273</a>) and GALNT2 (<a href="/entry/602274">602274</a>). GALNT3 encodes a 633-amino acid protein which has a single membrane-spanning region and is highly homologous to GALNT1 and GALNT2. Northern blot analysis showed that GALNT3 is expressed as a 3.6-kb transcript, with highest levels in human pancreas and testis. <a href="#2" class="mim-tip-reference" title="Bennett, E. P., Hassan, H,., Clausen, H. <strong>cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine.</strong> J. Biol. Chem. 271: 17006-17012, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8663203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8663203</a>] [<a href="https://doi.org/10.1074/jbc.271.29.17006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8663203">Bennett et al. (1996)</a> expressed the gene in insect Sf9 cells and showed that GALNT3 does have GalNAc-transferase activity, but with different substrate specificity than GALNT1 or GALNT2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8663203" 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>The mouse ortholog of GalNAc-T3 was cloned by <a href="#17" class="mim-tip-reference" title="Zara, J., Hagen, F. K., Ten Hagen, K. G., Van Wuyckhuyse, B. C., Tabak, L. A. <strong>Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3.</strong> Biochem. Biophys. Res. Commun. 228: 38-44, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8912633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8912633</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8912633">Zara et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8912633" 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="#3" class="mim-tip-reference" title="Bennett, E. P., Weghuis, D. O., Merkx, G., Geurts van Kessel, A., Eiberg, H., Clausen, H. <strong>Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase family.</strong> Glycobiology 8: 547-555, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9592121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9592121</a>] [<a href="https://doi.org/10.1093/glycob/8.6.547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9592121">Bennett et al. (1998)</a> found that the GALNT1, GALNT2, and GALNT3 genes contain 11, 16, and 10 exons, respectively. Several intron/exon boundaries are conserved within the 3 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9592121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By FISH, <a href="#3" class="mim-tip-reference" title="Bennett, E. P., Weghuis, D. O., Merkx, G., Geurts van Kessel, A., Eiberg, H., Clausen, H. <strong>Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase family.</strong> Glycobiology 8: 547-555, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9592121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9592121</a>] [<a href="https://doi.org/10.1093/glycob/8.6.547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9592121">Bennett et al. (1998)</a> mapped the GALNT3 gene to human chromosome 2q24-q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9592121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Kato, K., Jeanneau, C., Tarp, M. A., Benet-Pages, A., Lorenz-Depiereux, B., Bennett, E. P., Mandel, U., Strom, T. M., Clausen, H. <strong>Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.</strong> J. Biol. Chem. 281: 18370-18377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16638743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16638743</a>] [<a href="https://doi.org/10.1074/jbc.M602469200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16638743">Kato et al. (2006)</a> identified GALNT3 as an enzyme that protects intact FGF23 (<a href="/entry/605380">605380</a>) from proteolytic processing. FGF23 is a phosphaturic protein whose secretion as an intact active form requires O-glycosylation by GALNT3. GALNT3 selectively directs O-glycosylation of FGF23 in a subtilisin-like proprotein convertase (SPC) recognition sequence motif at thr178, which blocks proteolytic processing of FGF23. The findings suggested a novel posttranslational regulatory model of FGF23 involving competing O-glycosylation by GALNT3 and protease processing to produce intact FGF23. Mutations in GALNT3 result in a cleavage of intact FGF23 before secretion, leading to an accumulation of fragmented FGF23 and reduced intact active FGF23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16638743" 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>Autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) is a severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. <a href="#16" 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> assessed 12 individuals with familial tumoral calcinosis from 2 large kindreds of Druze and African American origin that had been extensively studied by <a href="#15" 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="#13" 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>. All affected individuals reported recurrent painful, calcified subcutaneous masses of up to 1 kg, often resulting in secondary infection and incapacitating mutilation. Three individuals developed deep periarticular tumors, and 1 succumbed to the disorder. All affected individuals had hyperphosphatemia, but normal levels of calcium, parathyroid hormone (PTH; <a href="/entry/168450">168450</a>), and 1,25-dihydroxyvitamin D3. Using linkage analysis in these 2 large kindreds, <a href="#16" 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> mapped the gene underlying familial tumoral calcinosis to 2q24-q31. Sequence analysis of GALNT3, which lies in this region, identified biallelic deleterious mutations (<a href="#0001">601756.0001</a>-<a href="#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 the 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><a href="#4" 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="#0001">601756.0001</a>) in 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome. The mutation had previously been reported in affected members of a Druze family with HFTC (<a href="#16" 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>), indicating that the 2 disorders are allelic. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15599692+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><p><a href="#14" 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="#0004">601756.0004</a>) in an HFTC patient of northern European origin, suggesting that the disease may have a wider geographic distribution than previously thought. <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="#7" 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 Caucasian woman with eyelid calcifications and biochemical features of familial tumoral calcinosis. The patient carried 2 missense mutations in GALNT3 in compound heterozygosity, both substituting a positively charged lysine for an uncharged threonine (<a href="#0008">601756.0008</a>, <a href="#0009">601756.0009</a>). <a href="#7" 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> stated that all GALNT3 mutations leading to tumoral calcinosis reported to that time had been either nonsense or splice site mutations. <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="#5" 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="#0011">601756.0011</a>-<a href="#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 (<a href="/entry/605380">605380</a>) and high levels of C-terminal FGF23 fragments in all 3 patients examined. <a href="#5" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=601756[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs745655924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs745655924;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs745655924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs745655924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of the Druze family with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) reported by <a href="#15" 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>, <a href="#16" 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> identified a homozygous G-to-A transition at position 1524+1 (from the ATG translation start site) of the GALNT3 gene, resulting in disruption of the intron 7 donor splice site consensus sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3839626+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><p><a href="#4" 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 the 1524+1G-A transition in 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome. Further population analysis estimated the frequency of the allele to be 0.70% in this population. Haplotype analysis confirmed a founder effect with the mutation arising approximately 88 to 200 years ago. <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>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008235 OR RCV000807812" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008235, RCV000807812" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008235...</a>
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<p>In affected members of an African American family with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) studied by <a href="#13" 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>, <a href="#16" 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> found compound heterozygosity for 2 mutations in the GALNT3 gene: a nonsense mutation 484C-T, resulting in the amino acid substitution arg162-to-stop (R162X) in exon 1; and a splice site mutation, IVS7+5G-A (<a href="#0003">601756.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=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>See also <a href="#0004">601756.0004</a> and <a href="#8" 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/?cmd=link&linkname=pubmed_pubmed&from_uid=15687324" 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>For discussion of the splice site mutation in the GALNT3 gene that was found in compound heterozygous state in patients with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) by <a href="#16" 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>, see <a href="#0002">601756.0002</a>. This mutation, designated 1524+5G-A, alters the same splice donor site in intron 7 as <a href="#0002">601756.0002</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'})"><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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<strong>.0004 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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GALNT3, IVS1AS, A-T, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs761396172 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761396172;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs761396172?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs761396172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs761396172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008237 OR RCV000520800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008237, RCV000520800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008237...</a>
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<p>In an African American patient with familial hyperphosphatemic tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) belonging to a large affected kindred previously reported by <a href="#12" 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="#11" 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="#8" 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 compound heterozygosity for 2 mutations in the GALNT3 gene: an A-to-T transversion in intron 1 and R162X (<a href="#0002">601756.0002</a>). The splice site mutation is predicted to lead to skipping of exon 2. An affected maternal great uncle was homozygous for the splice site mutation. Although the family had originally been described as showing autosomal dominant inheritance, the finding of biallelic mutations 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=13774168+3998061+15687324" 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="Laleye, A., Alao, M. J., Gbessi, F., Adjagba, M., Marche, M., Coupry, I., Redonnet-Vernhet, I., Lepreux, S., Ayivi, B., Darboux, R. B., Lacombe, D., Arveiler, B. <strong>Tumoral calcinosis due to GALNT3 c.516-2A-T mutation in a Black African family.</strong> Genet. Counsel. 19: 183-192, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18618993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18618993</a>]" pmid="18618993">Laleye et al. (2008)</a> identified homozygosity for the A-to-T transversion in intron 1 (516-2A-T) of the GALNT3 gene in 2 brothers with tumoral calcinosis from sub-Saharan Africa. The parents were consanguineous. RT-PCR analysis showed that the mutation resulted in the skipping of exon 2 and premature termination leading to a protein that lacks all domains encoded by exons 2 through 10. Both patients had a severe form of the disorder with dental enamel abnormalities and carbapatite deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18618993" 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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<strong>.0005 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853087 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853087;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137853087?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008238</a>
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<p>In a patient of northern European origin with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>), <a href="#14" 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 1774C-T transition in exon 9 of the GALNT3 gene, resulting in a gln592-to-ter (Q592X) substitution predicted to result in a truncated protein lacking a significant portion of the carbohydrate-binding domain. The unaffected parents were heterozygous for the mutation, and the mutation was not found in 124 control chromosomes. The 32-year-old patient 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>
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<strong>.0006 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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GALNT3, TYR322TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853088 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853088;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008240</a>
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<p>In an Italian man with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>), <a href="#1" class="mim-tip-reference" title="Barbieri, A. M., Filopanti, M., Bua, G., Beck-Peccoz, P. <strong>Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.</strong> J. Hum. Genet. 52: 464-468, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351710</a>] [<a href="https://doi.org/10.1007/s10038-007-0126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17351710">Barbieri et al. (2007)</a> identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 966T-G transversion in exon 4, resulting in tyr322-to-ter (Y322X) substitution and Q481X (<a href="#0007">601756.0007</a>). Each unaffected parent and 2 unaffected sibs were heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351710" 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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<strong>.0007 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853089;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008241</a>
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<p>In an Italian man with hyperphosphatemic familial tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>), <a href="#1" class="mim-tip-reference" title="Barbieri, A. M., Filopanti, M., Bua, G., Beck-Peccoz, P. <strong>Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.</strong> J. Hum. Genet. 52: 464-468, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17351710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17351710</a>] [<a href="https://doi.org/10.1007/s10038-007-0126-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17351710">Barbieri et al. (2007)</a> identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 1441C-T transition in exon 7, resulting in a gln481-to-ter (Q481X) substitution and Y322X (<a href="#0006">601756.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17351710" 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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<strong>.0008 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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GALNT3, THR272LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853090 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853090;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137853090?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008242</a>
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<p>In a patient with tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) who presented with eyelid calcifications, <a href="#7" 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> found compound heterozygosity for 2 missense mutations in the GALNT3 gene that substituted lysine for threonine. One was a C-to-A transversion at nucleotide 815 in exon 3 resulting in substitution of lysine for threonine at codon 272 (T272K); the other was a C-to-A transversion at nucleotide 1076 in exon 5 resulting in substitution of lysine for threonine at codon 359 (T359K; <a href="#0009">601756.0009</a>). Eyelid biopsy revealed superficial dermis calcifications. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. Biochemistry revealed normal levels of calcium, creatinine, PTH (<a href="/entry/168450">168450</a>), and 25-hydroxyvitamin D, with elevated phosphorus, tubular maximum for phosphate reabsorption per deciliter of glomerular filtrate, and high normal 1,25-dihydroxyvitamin D levels. Elevated C-terminal FGF23 (<a href="/entry/605380">605380</a>) fragments with undetectable intact FGF23 suggested that the mutant enzyme lacked the ability to glycosylate FGF23 and that glycosylation by GALNT3 is necessary for secretion of functional full-length FGF23. <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>
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<p>For discussion of the thr359-to-lys (T359K) mutation in the GALNT3 gene that was found in compound heterozygous state in a patient with tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>) by <a href="#7" 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>, see <a href="#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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs766750282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs766750282;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs766750282?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs766750282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs766750282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 5-year-old French boy with hyperostosis-hyperphosphatemia syndrome (HFTC1; <a href="/entry/211900">211900</a>), <a href="#6" class="mim-tip-reference" title="Ichikawa, S., Guigonis, V., Imel, E. A., Courouble, M., Heissat, S., Henley, J. D., Sorenson, A. H., Petit, B., Lienhardt, A., Econs, M. J. <strong>Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.</strong> J. Clin. Endocr. Metab. 92: 1943-1947, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311862</a>] [<a href="https://doi.org/10.1210/jc.2006-1825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17311862">Ichikawa et al. (2007)</a> identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 1-bp insertion (803_804insC) in exon 3, and a splice site mutation, IVS8+1G-A (<a href="#0011">601756.0011</a>). The boy presented with painful cortical lesions in his leg, and radiographs of the affected bone showed diaphyseal hyperostosis. The lesional tissue comprised trabeculae of immature, woven bone surrounded by fibrous tissue. Intact FGF23 level in the patient was low normal, whereas C-terminal FGF23 was elevated, a pattern similar that in tumoral calcinosis. The patient's parents and brother were heterozygous for one of the mutations and had no biochemical abnormalities. <a href="#6" class="mim-tip-reference" title="Ichikawa, S., Guigonis, V., Imel, E. A., Courouble, M., Heissat, S., Henley, J. D., Sorenson, A. H., Petit, B., Lienhardt, A., Econs, M. J. <strong>Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.</strong> J. Clin. Endocr. Metab. 92: 1943-1947, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311862</a>] [<a href="https://doi.org/10.1210/jc.2006-1825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17311862">Ichikawa et al. (2007)</a> suggested that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are different manifestations of the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17311862" 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>For discussion of the splice site mutation in the GALNT3 gene (IVS8+1G-A) that was found in compound heterozygous state in a patient with hyperostosis-hyperphosphatemia syndrome (HFTC1; <a href="/entry/211900">211900</a>) by <a href="#6" class="mim-tip-reference" title="Ichikawa, S., Guigonis, V., Imel, E. A., Courouble, M., Heissat, S., Henley, J. D., Sorenson, A. H., Petit, B., Lienhardt, A., Econs, M. J. <strong>Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.</strong> J. Clin. Endocr. Metab. 92: 1943-1947, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311862</a>] [<a href="https://doi.org/10.1210/jc.2006-1825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17311862">Ichikawa et al. (2007)</a>, see <a href="#0010">601756.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17311862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 5-year-old girl with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis (HFTC1; <a href="/entry/211900">211900</a>), <a href="#5" 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> identified a homozygous 1-bp deletion (677delC) in exon 3 of the GALNT3 gene, resulting in a frameshift and premature termination. The patient was born of first-degree cousins from Sri Lanka. She 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. Laboratory studies showed increased serum phosphorus, normal calcium, and inappropriately normal 1,25-(OH)2D. There were also low levels of intact FGF23 (<a href="/entry/605380">605380</a>) and increased C-terminal FGF23 fragments, consistent with tumoral calcinosis. <a href="#5" 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 syndrome 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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<strong>.0013 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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GALNT3, CYS574GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606841 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606841;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000008246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008246</a>
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<p>In a Greek woman with hyperphosphatemic tumoral calcinosis/ hyperostosis-hyperphosphatemia (HFTC1; <a href="/entry/211900">211900</a>), <a href="#5" 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> identified a homozygous 1720T-G transversion in exon 10 of the GALNT3 gene, resulting in a cys574-to-gly (C574G) substitution. The patient 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 at age 15-16 showed hyperphosphatemia, inappropriately increased/normal 1,24-(OH)2D, and normal serum calcium. There were also low/normal levels of intact FGF23 (<a href="/entry/605380">605380</a>) and increased C-terminal FGF23 fragments, consistent with tumoral calcinosis. <a href="#5" 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 syndrome 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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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1007/s10038-007-0126-5" target="_blank">Full Text</a>]
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<a id="Bennett1996" class="mim-anchor"></a>
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Bennett, E. P., Hassan, H,., Clausen, H.
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<strong>cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine.</strong>
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[<a href="https://doi.org/10.1074/jbc.271.29.17006" target="_blank">Full Text</a>]
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<a id="Bennett1998" class="mim-anchor"></a>
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Bennett, E. P., Weghuis, D. O., Merkx, G., Geurts van Kessel, A., Eiberg, H., Clausen, H.
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<strong>Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9592121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9592121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9592121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/glycob/8.6.547" target="_blank">Full Text</a>]
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Frishberg, Y., Topaz, O., Bergman, R., Behar, D., Fisher, D., Gordon, D., Richard, G., Sprecher, E.
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<strong>Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.</strong>
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00109-004-0610-8" target="_blank">Full Text</a>]
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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.
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<strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong>
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Am. J. Med. Genet. 152A: 896-903, 2010.
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[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://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'})">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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Ichikawa, S., Guigonis, V., Imel, E. A., Courouble, M., Heissat, S., Henley, J. D., Sorenson, A. H., Petit, B., Lienhardt, A., Econs, M. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17311862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17311862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17311862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2006-1825" target="_blank">Full Text</a>]
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<a id="Ichikawa2006" class="mim-anchor"></a>
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Ichikawa, S., Imel, E. A., Sorenson, A. H., Severe, R., Knudson, P., Harris, G. J., Shaker, J. L., Econs, M. J.
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<strong>Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.</strong>
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2006-1247" target="_blank">Full Text</a>]
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<a id="Ichikawa2005" class="mim-anchor"></a>
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Ichikawa, S., Lyles, K. W., Econs, M. J.
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<strong>A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.</strong>
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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15687324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2004-2302" target="_blank">Full Text</a>]
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Kato, K., Jeanneau, C., Tarp, M. A., Benet-Pages, A., Lorenz-Depiereux, B., Bennett, E. P., Mandel, U., Strom, T. M., Clausen, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16638743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16638743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16638743" 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/10.1074/jbc.M602469200" target="_blank">Full Text</a>]
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Laleye, A., Alao, M. J., Gbessi, F., Adjagba, M., Marche, M., Coupry, I., Redonnet-Vernhet, I., Lepreux, S., Ayivi, B., Darboux, R. B., Lacombe, D., Arveiler, B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18618993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18618993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18618993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lyles, K. W., Burkes, E. J., Ellis, G. J., Lucas, K. J., Dolan, E. A., Drezner, M. C.
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<strong>Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.</strong>
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[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3998061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-60-6-1093" target="_blank">Full Text</a>]
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McPhaul, J. J., Jr., Engel, F. L.
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<strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong>
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Am. J. Med. 31: 488-492, 1961.
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[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://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'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(61)90131-0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" 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>
|
|
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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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></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>
|
|
J. Hum. Genet. 51: 487-490, 2006.
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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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</p>
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</div>
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</li>
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<li>
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<a id="15" 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>
|
|
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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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Topaz2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<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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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Zara1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zara, J., Hagen, F. K., Ten Hagen, K. G., Van Wuyckhuyse, B. C., Tabak, L. A.
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<strong>Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3.</strong>
|
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Biochem. Biophys. Res. Commun. 228: 38-44, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8912633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8912633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8912633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1996.1613" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/11/2010
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 9/16/2008<br>John A. Phillips, III - updated : 2/19/2008<br>John A. Phillips, III - updated : 11/8/2007<br>Cassandra L. Kniffin - updated : 7/6/2007<br>Cassandra L. Kniffin - updated : 7/7/2006<br>Victor A. McKusick - updated : 5/14/2004<br>Carol A. Bocchini - updated : 4/23/1999
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jennifer P. Macke : 4/15/1997
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/23/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/08/2015<br>mcolton : 5/4/2015<br>carol : 9/10/2013<br>terry : 11/13/2012<br>wwang : 11/16/2010<br>ckniffin : 11/11/2010<br>wwang : 9/18/2008<br>ckniffin : 9/16/2008<br>carol : 2/19/2008<br>alopez : 11/8/2007<br>wwang : 7/16/2007<br>ckniffin : 7/6/2007<br>carol : 7/18/2006<br>ckniffin : 7/7/2006<br>alopez : 5/28/2004<br>alopez : 5/18/2004<br>alopez : 5/18/2004<br>terry : 5/14/2004<br>terry : 4/26/1999<br>carol : 4/23/1999<br>dholmes : 2/9/1998<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 8/7/1997<br>alopez : 5/5/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601756
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GalNAc TRANSFERASE 3; GalNAcT3<br />
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POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GALNT3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:165,747,588-165,794,692 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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2q24.3
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Tumoral calcinosis, hyperphosphatemic, familial, 1
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
211900
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>GALNT3 (EC 2.4.1.41) is one of several enzymes that catalyze the reaction UDP-GalNAc + polypeptide-(Ser/Thr)-OH to GalNAc-alpha-O-Ser/Thr-polypeptide + UDP, thereby initiating O-glycosylation of serine and threonine residues on an array of glycoproteins.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Bennett et al. (1996) used degenerate PCR to clone human GALNT3 using primers based on the sequences of GALNT1 (602273) and GALNT2 (602274). GALNT3 encodes a 633-amino acid protein which has a single membrane-spanning region and is highly homologous to GALNT1 and GALNT2. Northern blot analysis showed that GALNT3 is expressed as a 3.6-kb transcript, with highest levels in human pancreas and testis. Bennett et al. (1996) expressed the gene in insect Sf9 cells and showed that GALNT3 does have GalNAc-transferase activity, but with different substrate specificity than GALNT1 or GALNT2. </p><p>The mouse ortholog of GalNAc-T3 was cloned by Zara et al. (1996). </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Bennett et al. (1998) found that the GALNT1, GALNT2, and GALNT3 genes contain 11, 16, and 10 exons, respectively. Several intron/exon boundaries are conserved within the 3 genes. </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
<span class="mim-text-font">
|
|
<p>By FISH, Bennett et al. (1998) mapped the GALNT3 gene to human chromosome 2q24-q31. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Kato et al. (2006) identified GALNT3 as an enzyme that protects intact FGF23 (605380) from proteolytic processing. FGF23 is a phosphaturic protein whose secretion as an intact active form requires O-glycosylation by GALNT3. GALNT3 selectively directs O-glycosylation of FGF23 in a subtilisin-like proprotein convertase (SPC) recognition sequence motif at thr178, which blocks proteolytic processing of FGF23. The findings suggested a novel posttranslational regulatory model of FGF23 involving competing O-glycosylation by GALNT3 and protease processing to produce intact FGF23. Mutations in GALNT3 result in a cleavage of intact FGF23 before secretion, leading to an accumulation of fragmented FGF23 and reduced intact active FGF23. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900) is a severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Topaz et al. (2004) assessed 12 individuals with familial tumoral calcinosis from 2 large kindreds of Druze and African American origin that had been extensively studied by Steinherz et al. (1985) and Slavin et al. (1993). All affected individuals reported recurrent painful, calcified subcutaneous masses of up to 1 kg, often resulting in secondary infection and incapacitating mutilation. Three individuals developed deep periarticular tumors, and 1 succumbed to the disorder. All affected individuals had hyperphosphatemia, but normal levels of calcium, parathyroid hormone (PTH; 168450), and 1,25-dihydroxyvitamin D3. Using linkage analysis in these 2 large kindreds, Topaz et al. (2004) mapped the gene underlying familial tumoral calcinosis to 2q24-q31. Sequence analysis of GALNT3, which lies in this region, identified biallelic deleterious mutations (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 the disorder. </p><p>Frishberg et al. (2005) identified homozygosity for a mutation in the GALNT3 gene (601756.0001) in 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome. The mutation had previously been reported in affected members of a Druze family with HFTC (Topaz et al., 2004), indicating that the 2 disorders are allelic. Haplotype analysis indicated a founder effect. </p><p>Specktor et al. (2006) identified a homozygous mutation in the GALNT3 gene (601756.0004) in an HFTC patient of northern European origin, suggesting that the disease may have a wider geographic distribution than previously thought. </p><p>Ichikawa et al. (2006) reported a 25-year-old Caucasian woman with eyelid calcifications and biochemical features of familial tumoral calcinosis. The patient carried 2 missense mutations in GALNT3 in compound heterozygosity, both substituting a positively charged lysine for an uncharged threonine (601756.0008, 601756.0009). Ichikawa et al. (2006) stated that all GALNT3 mutations leading to tumoral calcinosis reported to that time had been either nonsense or splice site mutations. </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 (605380) 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>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GALNT3, IVS7DS, G-A, +1
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<br />
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SNP: rs745655924,
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ClinVar: RCV000008234, RCV005089207
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of the Druze family with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900) reported by Steinherz et al. (1985), Topaz et al. (2004) identified a homozygous G-to-A transition at position 1524+1 (from the ATG translation start site) of the GALNT3 gene, resulting in disruption of the intron 7 donor splice site consensus sequence. </p><p>Frishberg et al. (2005) identified homozygosity for the 1524+1G-A transition in 2 affected individuals from 2 Arab Moslem families with hyperostosis-hyperphosphatemia syndrome. Further population analysis estimated the frequency of the allele to be 0.70% in this population. Haplotype analysis confirmed a founder effect with the mutation arising approximately 88 to 200 years ago. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GALNT3, ARG162TER
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<br />
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SNP: rs137853086,
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gnomAD: rs137853086,
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ClinVar: RCV000008235, RCV000807812
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of an African American family with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900) studied by Slavin et al. (1993), Topaz et al. (2004) found compound heterozygosity for 2 mutations in the GALNT3 gene: a nonsense mutation 484C-T, resulting in the amino acid substitution arg162-to-stop (R162X) in exon 1; and a splice site mutation, IVS7+5G-A (601756.0003). </p><p>See also 601756.0004 and Ichikawa et al. (2005). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GALNT3, IVS7DS, G-A, +5
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<br />
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SNP: rs375879489,
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gnomAD: rs375879489,
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ClinVar: RCV000008236, RCV002512899
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the GALNT3 gene that was found in compound heterozygous state in patients with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900) by Topaz et al. (2004), see 601756.0002. This mutation, designated 1524+5G-A, alters the same splice donor site in intron 7 as 601756.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GALNT3, IVS1AS, A-T, -2
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<br />
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SNP: rs761396172,
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gnomAD: rs761396172,
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ClinVar: RCV000008237, RCV000520800
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an African American patient with familial hyperphosphatemic tumoral calcinosis (HFTC1; 211900) belonging to a large affected kindred previously reported by McPhaul and Engel (1961) and Lyles et al. (1985), Ichikawa et al. (2005) identified compound heterozygosity for 2 mutations in the GALNT3 gene: an A-to-T transversion in intron 1 and R162X (601756.0002). The splice site mutation is predicted to lead to skipping of exon 2. An affected maternal great uncle was homozygous for the splice site mutation. Although the family had originally been described as showing autosomal dominant inheritance, the finding of biallelic mutations 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>Laleye et al. (2008) identified homozygosity for the A-to-T transversion in intron 1 (516-2A-T) of the GALNT3 gene in 2 brothers with tumoral calcinosis from sub-Saharan Africa. The parents were consanguineous. RT-PCR analysis showed that the mutation resulted in the skipping of exon 2 and premature termination leading to a protein that lacks all domains encoded by exons 2 through 10. Both patients had a severe form of the disorder with dental enamel abnormalities and carbapatite deposits. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, GLN592TER
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<br />
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|
|
SNP: rs137853087,
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|
|
gnomAD: rs137853087,
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|
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ClinVar: RCV000008238
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient of northern European origin with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900), Specktor et al. (2006) identified a homozygous 1774C-T transition in exon 9 of the GALNT3 gene, resulting in a gln592-to-ter (Q592X) substitution predicted to result in a truncated protein lacking a significant portion of the carbohydrate-binding domain. The unaffected parents were heterozygous for the mutation, and the mutation was not found in 124 control chromosomes. The 32-year-old patient had severe joint disease and dental anomalies. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, TYR322TER
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|
|
<br />
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|
|
SNP: rs137853088,
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|
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|
|
ClinVar: RCV000008240
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian man with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900), Barbieri et al. (2007) identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 966T-G transversion in exon 4, resulting in tyr322-to-ter (Y322X) substitution and Q481X (601756.0007). Each unaffected parent and 2 unaffected sibs were heterozygous for 1 of the mutations. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, GLN481TER
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|
|
<br />
|
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|
|
SNP: rs137853089,
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|
|
ClinVar: RCV000008241
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian man with hyperphosphatemic familial tumoral calcinosis (HFTC1; 211900), Barbieri et al. (2007) identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 1441C-T transition in exon 7, resulting in a gln481-to-ter (Q481X) substitution and Y322X (601756.0006). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, THR272LYS
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs137853090,
|
|
|
|
|
|
gnomAD: rs137853090,
|
|
|
|
|
|
ClinVar: RCV000008242
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with tumoral calcinosis (HFTC1; 211900) who presented with eyelid calcifications, Ichikawa et al. (2006) found compound heterozygosity for 2 missense mutations in the GALNT3 gene that substituted lysine for threonine. One was a C-to-A transversion at nucleotide 815 in exon 3 resulting in substitution of lysine for threonine at codon 272 (T272K); the other was a C-to-A transversion at nucleotide 1076 in exon 5 resulting in substitution of lysine for threonine at codon 359 (T359K; 601756.0009). Eyelid biopsy revealed superficial dermis calcifications. There was no history of metastatic calcifications, mineral homeostasis abnormalities, or renal dysfunction. Biochemistry revealed normal levels of calcium, creatinine, PTH (168450), and 25-hydroxyvitamin D, with elevated phosphorus, tubular maximum for phosphate reabsorption per deciliter of glomerular filtrate, and high normal 1,25-dihydroxyvitamin D levels. Elevated C-terminal FGF23 (605380) fragments with undetectable intact FGF23 suggested that the mutant enzyme lacked the ability to glycosylate FGF23 and that glycosylation by GALNT3 is necessary for secretion of functional full-length FGF23. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, THR359LYS
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|
|
<br />
|
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|
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SNP: rs137853091,
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|
|
gnomAD: rs137853091,
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|
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ClinVar: RCV000008239
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|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the thr359-to-lys (T359K) mutation in the GALNT3 gene that was found in compound heterozygous state in a patient with tumoral calcinosis (HFTC1; 211900) by Ichikawa et al. (2006), see 601756.0008. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, 1-BP INS, 803C
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<br />
|
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|
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SNP: rs766750282,
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|
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gnomAD: rs766750282,
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|
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ClinVar: RCV000008243, RCV003555970
|
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|
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|
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</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old French boy with hyperostosis-hyperphosphatemia syndrome (HFTC1; 211900), Ichikawa et al. (2007) identified compound heterozygosity for 2 mutations in the GALNT3 gene: a 1-bp insertion (803_804insC) in exon 3, and a splice site mutation, IVS8+1G-A (601756.0011). The boy presented with painful cortical lesions in his leg, and radiographs of the affected bone showed diaphyseal hyperostosis. The lesional tissue comprised trabeculae of immature, woven bone surrounded by fibrous tissue. Intact FGF23 level in the patient was low normal, whereas C-terminal FGF23 was elevated, a pattern similar that in tumoral calcinosis. The patient's parents and brother were heterozygous for one of the mutations and had no biochemical abnormalities. Ichikawa et al. (2007) suggested that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are different manifestations of the same disorder. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GALNT3, IVS8DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs760830864,
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|
|
|
|
|
gnomAD: rs760830864,
|
|
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|
|
ClinVar: RCV000008244, RCV003546453
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the GALNT3 gene (IVS8+1G-A) that was found in compound heterozygous state in a patient with hyperostosis-hyperphosphatemia syndrome (HFTC1; 211900) by Ichikawa et al. (2007), see 601756.0010. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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GALNT3, 1-BP DEL, 677C
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<br />
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SNP: rs786205250,
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ClinVar: RCV000008245
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<p>In a 5-year-old girl with hyperostosis-hyperphosphatemia syndrome/tumoral calcinosis (HFTC1; 211900), Ichikawa et al. (2010) identified a homozygous 1-bp deletion (677delC) in exon 3 of the GALNT3 gene, resulting in a frameshift and premature termination. The patient was born of first-degree cousins from Sri Lanka. She 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. Laboratory studies showed increased serum phosphorus, normal calcium, and inappropriately normal 1,25-(OH)2D. There were also low levels of intact FGF23 (605380) and increased C-terminal FGF23 fragments, consistent with tumoral calcinosis. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia syndrome 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>
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</div>
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<h4>
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<span class="mim-font">
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<strong>.0013 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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GALNT3, CYS574GLY
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<br />
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SNP: rs267606841,
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ClinVar: RCV000008246
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</span>
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<span class="mim-text-font">
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<p>In a Greek woman with hyperphosphatemic tumoral calcinosis/ hyperostosis-hyperphosphatemia (HFTC1; 211900), Ichikawa et al. (2010) identified a homozygous 1720T-G transversion in exon 10 of the GALNT3 gene, resulting in a cys574-to-gly (C574G) substitution. The patient 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 at age 15-16 showed hyperphosphatemia, inappropriately increased/normal 1,24-(OH)2D, and normal serum calcium. There were also low/normal levels of intact FGF23 (605380) and increased C-terminal FGF23 fragments, consistent with tumoral calcinosis. Ichikawa et al. (2010) concluded that hyperostosis-hyperphosphatemia syndrome 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>
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Barbieri, A. M., Filopanti, M., Bua, G., Beck-Peccoz, P.
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<strong>Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.</strong>
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J. Hum. Genet. 52: 464-468, 2007.
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[PubMed: 17351710]
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[Full Text: https://doi.org/10.1007/s10038-007-0126-5]
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</li>
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<li>
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<p class="mim-text-font">
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Bennett, E. P., Hassan, H,., Clausen, H.
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<strong>cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine.</strong>
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J. Biol. Chem. 271: 17006-17012, 1996.
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[PubMed: 8663203]
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[Full Text: https://doi.org/10.1074/jbc.271.29.17006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bennett, E. P., Weghuis, D. O., Merkx, G., Geurts van Kessel, A., Eiberg, H., Clausen, H.
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<strong>Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase family.</strong>
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Glycobiology 8: 547-555, 1998.
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[PubMed: 9592121]
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[Full Text: https://doi.org/10.1093/glycob/8.6.547]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Frishberg, Y., Topaz, O., Bergman, R., Behar, D., Fisher, D., Gordon, D., Richard, G., Sprecher, E.
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<strong>Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.</strong>
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J. Molec. Med. 83: 33-38, 2005. Note: Erratum: J. Molec. Med. 83: 240 only, 2005.
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[PubMed: 15599692]
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[Full Text: https://doi.org/10.1007/s00109-004-0610-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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.
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<strong>Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.</strong>
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Am. J. Med. Genet. 152A: 896-903, 2010.
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[PubMed: 20358599]
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[Full Text: https://doi.org/10.1002/ajmg.a.33337]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ichikawa, S., Guigonis, V., Imel, E. A., Courouble, M., Heissat, S., Henley, J. D., Sorenson, A. H., Petit, B., Lienhardt, A., Econs, M. J.
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<strong>Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.</strong>
|
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J. Clin. Endocr. Metab. 92: 1943-1947, 2007.
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[PubMed: 17311862]
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[Full Text: https://doi.org/10.1210/jc.2006-1825]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ichikawa, S., Imel, E. A., Sorenson, A. H., Severe, R., Knudson, P., Harris, G. J., Shaker, J. L., Econs, M. J.
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<strong>Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.</strong>
|
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J. Clin. Endocr. Metab. 91: 4472-4475, 2006.
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[PubMed: 16940445]
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[Full Text: https://doi.org/10.1210/jc.2006-1247]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ichikawa, S., Lyles, K. W., Econs, M. J.
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<strong>A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.</strong>
|
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J. Clin. Endocr. Metab. 90: 2420-2423, 2005.
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[PubMed: 15687324]
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[Full Text: https://doi.org/10.1210/jc.2004-2302]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kato, K., Jeanneau, C., Tarp, M. A., Benet-Pages, A., Lorenz-Depiereux, B., Bennett, E. P., Mandel, U., Strom, T. M., Clausen, H.
|
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<strong>Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.</strong>
|
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J. Biol. Chem. 281: 18370-18377, 2006.
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[PubMed: 16638743]
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[Full Text: https://doi.org/10.1074/jbc.M602469200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Laleye, A., Alao, M. J., Gbessi, F., Adjagba, M., Marche, M., Coupry, I., Redonnet-Vernhet, I., Lepreux, S., Ayivi, B., Darboux, R. B., Lacombe, D., Arveiler, B.
|
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<strong>Tumoral calcinosis due to GALNT3 c.516-2A-T mutation in a Black African family.</strong>
|
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Genet. Counsel. 19: 183-192, 2008.
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[PubMed: 18618993]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lyles, K. W., Burkes, E. J., Ellis, G. J., Lucas, K. J., Dolan, E. A., Drezner, M. C.
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<strong>Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.</strong>
|
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J. Clin. Endocr. Metab. 60: 1093-1096, 1985.
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[PubMed: 3998061]
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[Full Text: https://doi.org/10.1210/jcem-60-6-1093]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McPhaul, J. J., Jr., Engel, F. L.
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<strong>Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.</strong>
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Am. J. Med. 31: 488-492, 1961.
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[PubMed: 13774168]
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[Full Text: https://doi.org/10.1016/0002-9343(61)90131-0]
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</p>
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<li>
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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: 8338191]
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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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J. Hum. Genet. 51: 487-490, 2006.
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[PubMed: 16528452]
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[Full Text: https://doi.org/10.1007/s10038-006-0377-6]
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</p>
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<li>
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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: 3839626]
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[Full Text: https://doi.org/10.1001/archpedi.1985.02140100078036]
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</p>
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<li>
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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: 15133511]
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[Full Text: https://doi.org/10.1038/ng1358]
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<p class="mim-text-font">
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Zara, J., Hagen, F. K., Ten Hagen, K. G., Van Wuyckhuyse, B. C., Tabak, L. A.
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<strong>Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3.</strong>
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Biochem. Biophys. Res. Commun. 228: 38-44, 1996.
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[PubMed: 8912633]
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[Full Text: https://doi.org/10.1006/bbrc.1996.1613]
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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<br>Cassandra L. Kniffin - updated : 9/16/2008<br>John A. Phillips, III - updated : 2/19/2008<br>John A. Phillips, III - updated : 11/8/2007<br>Cassandra L. Kniffin - updated : 7/6/2007<br>Cassandra L. Kniffin - updated : 7/7/2006<br>Victor A. McKusick - updated : 5/14/2004<br>Carol A. Bocchini - updated : 4/23/1999
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Jennifer P. Macke : 4/15/1997
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carol : 05/23/2018<br>carol : 05/08/2015<br>mcolton : 5/4/2015<br>carol : 9/10/2013<br>terry : 11/13/2012<br>wwang : 11/16/2010<br>ckniffin : 11/11/2010<br>wwang : 9/18/2008<br>ckniffin : 9/16/2008<br>carol : 2/19/2008<br>alopez : 11/8/2007<br>wwang : 7/16/2007<br>ckniffin : 7/6/2007<br>carol : 7/18/2006<br>ckniffin : 7/7/2006<br>alopez : 5/28/2004<br>alopez : 5/18/2004<br>alopez : 5/18/2004<br>terry : 5/14/2004<br>terry : 4/26/1999<br>carol : 4/23/1999<br>dholmes : 2/9/1998<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 11/7/1997<br>alopez : 8/7/1997<br>alopez : 5/5/1997
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Printed: March 5, 2025
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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