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<title>
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Entry
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- *171900 - PHOSPHOGLUCOMUTASE 1; PGM1
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- OMIM
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</ul>
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*171900</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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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>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/171900">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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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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</li>
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<li role="presentation">
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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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</li>
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</ul>
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</nav>
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</div>
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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=ENSG00000079739;t=ENST00000371084" 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=5236" 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=171900" 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="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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</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=ENSG00000079739;t=ENST00000371084" 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_001172818,NM_001172819,NM_002633" 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_002633" 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=171900" 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=01389&isoform_id=01389_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/PGM1" 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/189926,544573,585670,7709912,12043565,18043712,21361621,30582761,119626964,119626965,127796284,127801388,189053380,194373447,194376712,194391188,221043062,290463102,290463104" 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/P36871" 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=5236" 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=ENSG00000079739;t=ENST00000371084" 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=PGM1" 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=PGM1" 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+5236" 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/PGM1" 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:5236" 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/5236" 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=chr1&hgg_gene=ENST00000371084.8&hgg_start=63593411&hgg_end=63660245&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">
|
|
<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">
|
|
<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:8905" 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:8905" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=171900[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>
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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=171900[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://www.deciphergenomics.org/gene/PGM1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000079739" 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=PGM1" 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=PGM1" 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=PGM1" 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=PGM1&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/PA33242" 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:8905" 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/FBgn0003076.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:97565" 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/PGM1#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:97565" 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/5236/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=5236" 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://wormbase.org/db/gene/gene?name=WBGene00019890;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1245" 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">
|
|
<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:5236" 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=PGM1&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 783717008<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
171900
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
|
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PHOSPHOGLUCOMUTASE 1; PGM1
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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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PGM1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PGM1</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/681?start=-3&limit=10&highlight=681">1p31.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:63593411-63660245&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'})">1:63,593,411-63,660,245</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681">
|
|
1p31.3
|
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</a>
|
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</span>
|
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</td>
|
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|
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<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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<p>Phosphoglucomutases (PGM; <a href="https://enzyme.expasy.org/EC/5.4.2.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 5.4.2.2</a>) catalyze the transfer of phosphate between the 1 and 6 positions of glucose. Isozymes of PGM are monomeric, with molecular masses of about 60 kD, and are encoded by several genes, including PGM1. In most cell types, PGM1 isozymes predominate, representing about 90% of total PGM activity. One exception is red cells, where PGM2 (<a href="/entry/172000">172000</a>) is a major isozyme (<a href="#25" class="mim-tip-reference" title="Putt, W., Ives, J. H., Hollyoake, M., Hopkinson, D. A., Whitehouse, D. B., Edwards, Y. H. <strong>Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.</strong> Biochem. J. 296: 417-422, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257433</a>] [<a href="https://doi.org/10.1042/bj2960417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8257433">Putt et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257433" 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="#15" class="mim-tip-reference" title="Hopkinson, D. A., Harris, H. <strong>Rare phosphoglucomutase phenotypes.</strong> Ann. Hum. Genet. 30: 167-181, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5970336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5970336</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1966.tb00016.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5970336">Hopkinson and Harris (1966)</a> presented evidence for the existence of at least 2 structural PGM loci, PGM1 and PGM2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5970336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Whitehouse, D. B., Putt, W., Lovegrove, J. U., Morrison, K., Hollyoake, M., Fox, M. F., Hopkinson, D. A., Edwards, Y. H. <strong>Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.</strong> Proc. Nat. Acad. Sci. 89: 411-415, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1530890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1530890</a>] [<a href="https://doi.org/10.1073/pnas.89.1.411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1530890">Whitehouse et al. (1992)</a> isolated a cDNA encoding human PGM1. Eighteen amino acid differences were found between human and rabbit PGM1. Southern blot analysis indicated that PGM1 is conserved among a wide variety of vertebrates ranging from primates to birds and amphibia. No evidence for PGM1-related sequences was found either by Southern blot analysis or by in situ hybridization. Thus, if the genes encoding human PGM2 and PGM3 (<a href="/entry/172100">172100</a>) arose by duplication from the same ancestral gene as PGM1, it seems likely that less than 65% sequence homology has been preserved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1530890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In addition to the ubiquitously expressed Pgm1 transcript, a fast muscle-specific Pgm1 transcript, designated Pgm1fm, exists in rabbit. By PCR using primers derived from the 5-prime end of rabbit Pgm1fm, <a href="#25" class="mim-tip-reference" title="Putt, W., Ives, J. H., Hollyoake, M., Hopkinson, D. A., Whitehouse, D. B., Edwards, Y. H. <strong>Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.</strong> Biochem. J. 296: 417-422, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257433</a>] [<a href="https://doi.org/10.1042/bj2960417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8257433">Putt et al. (1993)</a> isolated human PGM1FM. Human PGM1 and PGM1FM contain alternative first exons, and the deduced PGM1FM protein contains 18 additional N-terminal amino acids compared with PGM1. Human PGM1FM appeared to be expressed at low levels in fast muscle only. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257433" 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="#25" class="mim-tip-reference" title="Putt, W., Ives, J. H., Hollyoake, M., Hopkinson, D. A., Whitehouse, D. B., Edwards, Y. H. <strong>Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon.</strong> Biochem. J. 296: 417-422, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257433</a>] [<a href="https://doi.org/10.1042/bj2960417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8257433">Putt et al. (1993)</a> determined that the PGM1 gene contains 12 exons, including 2 alternative first exons, exons 1A and 1B, that are specific to the ubiquitous PGM1 transcript and the fast muscle PGM1 transcript, respectively. PGM1 spans more than 65 kb, with about 29 kb separating exons 1A and 1B. The region encompassing exon 1A has features characteristic of a housekeeping promoter, including high GC content, high incidence of CpG dinucleotides, lack of TATA or CCAAT boxes, and 6 Sp1 (<a href="/entry/189906">189906</a>)-binding sites. In contrast, the region encompassing exon 1B is not GC rich, has a low incidence of CpG dinucleotides, and lacks Sp1-binding sites as well as TATA or CCAAT boxes, features consistent with a nonhousekeeping promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257433" 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="#24" class="mim-tip-reference" title="Parrington, J. M., Cruickshank, G., Hopkinson, D. A., Robson, E. B., Harris, H. <strong>Linkage relationships between the three phosphoglucomutase loci PGM(1), PGM(2) and PGM(3).</strong> Ann. Hum. Genet. 32: 27-32, 1968."None>Parrington et al. (1968)</a> found that the PGM1, PGM2, and PGM3 genes are not closely linked. By cell hybridization, synteny of PGM1 and peptidase C (PEPC; <a href="/entry/170000">170000</a>) was demonstrated by <a href="#2" class="mim-tip-reference" title="Billardon, C., Van Cong, N., Picard, J. Y., Dekaouel, C., Rebourcet, R., Weil, D., Feingold, J., Frezal, J. <strong>Linkage studies of enzyme markers in man-mouse somatic cell hybrids.</strong> Ann. Hum. Genet. 36: 273-284, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4736621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4736621</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1973.tb00590.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4736621">Billardon et al. (1973)</a>. These loci are on chromosome 1. <a href="#8" class="mim-tip-reference" title="Douglas, G. R., McAlpine, P. J., Hamerton, J. L. <strong>Regional localization of loci for human PGM(1) and 6PGD on human chromosome one by use of hybrids of Chinese hamster-human somatic cells.</strong> Proc. Nat. Acad. Sci. 70: 2737-2740, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4517931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4517931</a>] [<a href="https://doi.org/10.1073/pnas.70.10.2737" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4517931">Douglas et al. (1973)</a> demonstrated that the PGM1 and 6PGD (PGD; <a href="/entry/172200">172200</a>) genes are on the distal end of the short arm of chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4736621+4517931" 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>Assuming that each arm of chromosome 1 is 140 male cM in length, <a href="#7" class="mim-tip-reference" title="Cook, P. J. L., Robson, E. B., Buckton, K. E., Jacobs, P. A., Polani, P. E. <strong>Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1.</strong> Ann. Hum. Genet. 37: 261-274, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4812948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4812948</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1974.tb01834.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4812948">Cook et al. (1974)</a> concluded that, measured from the centromere, map positions are as follows: PGD 1p124; Rh (see <a href="/entry/111680">111680</a>) 1p109; PGM1 1p079; Fy (<a href="/entry/110700">110700</a>) 1p010, PEPC 1q030. The Goss-Harris method of mapping by radiation-induced gene segregation combines features of recombinational study in families and synteny tests in hybrid cells. As applied to chromosome 1, the method shows that AK2 (<a href="/entry/103020">103020</a>) and UMPK (CMPK1; <a href="/entry/191710">191710</a>) are distal to PGM1 and that the order of the genes is PGM1--UMPK--AK2/alpha-FUC (FUCA1; <a href="/entry/612280">612280</a>)--ENO1 (<a href="/entry/172430">172430</a>) (<a href="#13" class="mim-tip-reference" title="Goss, S. J., Harris, H. <strong>Gene transfer by means of cell fusion. II. The mapping of 8 loci on human chromosome 1 by statistical analysis of gene assortment in somatic cell hybrids.</strong> J. Cell Sci. 25: 39-57, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/561097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">561097</a>] [<a href="https://doi.org/10.1242/jcs.25.1.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="561097">Goss and Harris, 1977</a>). On the basis of a family segregating for elliptocytosis (<a href="/entry/611804">611804</a>) and PGD, as well as the common polymorphisms Rh, PGM1, and alpha-fucosidase, <a href="#5" class="mim-tip-reference" title="Cook, P. J. L., Noades, J. E., Newton, M. S., de Mey, R. <strong>On the orientation of the Rh:E1 linkage group.</strong> Ann. Hum. Genet. 41: 157-162, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/413469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">413469</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1977.tb01910.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="413469">Cook et al. (1977)</a> concluded that the map of 1p is, in the male, 1pter--PGD--18%--El--2%--Rh--2%--alpha-FUC--25%--PGM1--centromere. In the female the intervals were estimated to be 22%, 4%, 2%, and 37%, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=561097+4812948+413469" 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 anonymous fragment D1S2 was found to be 7 cM from PGM1 by linkage analysis (<a href="#19" class="mim-tip-reference" title="Kidd, K. K., Kidd, J. R., Castiglione, C. M., Sparkes, R. S., Egeland, J. A., Bakker, E. <strong>The anonymous RFLP locus D1S2 is close to PGM1 on chromosome 1.</strong> Hum. Hered. 38: 22-26, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895061</a>] [<a href="https://doi.org/10.1159/000153749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895061">Kidd et al., 1988</a>). DNA from somatic cell hybrids containing different portions of chromosome 1 was used for Southern blot analysis, placing D1S2 proximal to 1p32 and distal to PGM1. <a href="#18" class="mim-tip-reference" title="Kidd, J. R., Matsubara, Y., Castiglione, C. M., Tanaka, K., Kidd, K. K. <strong>The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic.</strong> Genomics 6: 89-93, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1968047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1968047</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90451-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1968047">Kidd et al. (1990)</a> suggested that the somatic cell localization of PGM1 to 1p22.1 may be in error, since linkage studies showed it to be 11.7 cM distal to ACADM (<a href="/entry/607008">607008</a>), which has been assigned to 1p31 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2895061+1968047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Whitehouse, D. B., Putt, W., Lovegrove, J. U., Morrison, K., Hollyoake, M., Fox, M. F., Hopkinson, D. A., Edwards, Y. H. <strong>Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.</strong> Proc. Nat. Acad. Sci. 89: 411-415, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1530890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1530890</a>] [<a href="https://doi.org/10.1073/pnas.89.1.411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1530890">Whitehouse et al. (1992)</a> assigned the PGM1 gene to chromosome 1p31 by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1530890" 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 starch gel electrophoresis, <a href="#36" class="mim-tip-reference" title="Spencer, N., Hopkinson, D. A., Harris, H. <strong>Phosphoglucomutase polymorphism in man.</strong> Nature 204: 742-745, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14235665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14235665</a>] [<a href="https://doi.org/10.1038/204742a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14235665">Spencer et al. (1964)</a> demonstrated polymorphism of phosphoglucomutase. <a href="#15" class="mim-tip-reference" title="Hopkinson, D. A., Harris, H. <strong>Rare phosphoglucomutase phenotypes.</strong> Ann. Hum. Genet. 30: 167-181, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5970336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5970336</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1966.tb00016.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5970336">Hopkinson and Harris (1966)</a> presented evidence suggesting that PGM1 is responsible for electrophoretically slow-moving components, and at least 5 alleles were identified. PGM2 determines the electrophoretically fast-moving components, and at least 3 alleles may exist at this locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5970336+14235665" 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>By starch gel electrophoresis and by direct determination of activity, <a href="#10" class="mim-tip-reference" title="Ferrell, R. E., Escallon, M., Aguilar, L., Bertin, T. <strong>Erythrocyte phosphoglucomutase: a family study of a PGM1 deficient allele.</strong> Hum. Genet. 67: 306-308, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6236143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6236143</a>] [<a href="https://doi.org/10.1007/BF00291358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6236143">Ferrell et al. (1984)</a> detected a deficiency allele at the PGM1 locus. In neither homozygous nor heterozygous state did the null allele have other phenotypic consequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6236143" 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="#9" class="mim-tip-reference" title="Dykes, D. D., Kuhnl, P., Martin, W. <strong>PGM1 system: report on the International Workshop, October 10-11, 1983, Munich, West Germany.</strong> Am. J. Hum. Genet. 37: 1225-1231, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2934981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2934981</a>]" pmid="2934981">Dykes et al. (1985)</a> reported on a nomenclature workshop on PGM1 polymorphisms held in 1983. A total of 30 rare variants were identified and it was recommended that the 4 common alleles be designated as follows: PGM1*1A, PGM1*1B, PGM1*2A, and PGM1*2B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2934981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the course of paternity testing, <a href="#14" class="mim-tip-reference" title="Herbich, J., Szilvassy, J., Schnedl, W. <strong>Gene localisation of the PGM-1 enzyme system and the Duffy blood groups on chromosome no. 1 by means of a new fragile site at 1p31.</strong> Hum. Genet. 70: 178-180, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3159642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3159642</a>] [<a href="https://doi.org/10.1007/BF00273078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3159642">Herbich et al. (1985)</a> found an apparent maternal exclusion by the PGM1 enzyme system (mother PGM1 type 1, child PGM1 type 2) and by the Duffy blood group system (mother Fy(a-b+), child Fy(a+b-)). The father was not available for testing. The possibility that the child had been mistakenly identified after birth could be eliminated. The karyotype of the child showed a 'new fragile site' at 1p31, which contains the PGM1 and Duffy loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3159642" 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>Data on gene frequencies of allelic variants were tabulated by <a href="#29" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p><p><a href="#38" class="mim-tip-reference" title="Takahashi, N., Neel, J. V., Satoh, C., Nishizaki, J., Masunari, N. <strong>A phylogeny for the principal alleles of the human phosphoglucomutase-1 locus.</strong> Proc. Nat. Acad. Sci. 79: 6636-6640, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6216484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6216484</a>] [<a href="https://doi.org/10.1073/pnas.79.21.6636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6216484">Takahashi et al. (1982)</a> advanced a phylogeny that attributed 8 alleles of the PGM1 locus to 3 independent mutations in a primal allele, followed by 4 intragenic recombination events involving these mutants. Using the cDNA probes provided by <a href="#44" class="mim-tip-reference" title="Whitehouse, D. B., Putt, W., Lovegrove, J. U., Morrison, K., Hollyoake, M., Fox, M. F., Hopkinson, D. A., Edwards, Y. H. <strong>Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.</strong> Proc. Nat. Acad. Sci. 89: 411-415, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1530890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1530890</a>] [<a href="https://doi.org/10.1073/pnas.89.1.411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1530890">Whitehouse et al. (1992)</a> and <a href="#39" class="mim-tip-reference" title="Takahashi, N., Neel, J. V. <strong>Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled.</strong> Proc. Nat. Acad. Sci. 90: 10725-10729, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902567</a>] [<a href="https://doi.org/10.1073/pnas.90.22.10725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7902567">Takahashi and Neel (1993)</a>, <a href="#21" class="mim-tip-reference" title="March, R. E., Putt, W., Hollyoake, M., Ives, J. H., Lovegrove, J. U., Hopkinson, D. A., Edwards, Y. H., Whitehouse, D. B. <strong>The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.</strong> Proc. Nat. Acad. Sci. 90: 10730-10733, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902568</a>] [<a href="https://doi.org/10.1073/pnas.90.22.10730" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7902568">March et al. (1993)</a> confirmed the earlier hypothesis based on protein studies by electrophoresis. The findings were interpreted as strongly supporting the view that only 2 point mutations were involved in the generation of the 4 common alleles and that 1 allele must have arisen by homologous intragenic recombination between these mutation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6216484+7902567+1530890+7902568" 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>PGM1 is a highly polymorphic protein. Three mutations and 4 intragenic recombination events between the 3 mutation sites generate 8 protein variants, including the 4 universally common alleles, 1+, 1-, 2+, and 2-, and 4 others that are polymorphic in some Oriental populations, 3+, 3-, 7+, and 7-. The mutations 3/7, 2/1, and +/- are in exons 1A, 4, and 8, and are 40 and 18 kb apart, respectively. Using 12 polymorphic markers, including 2/1 and +/-, <a href="#45" class="mim-tip-reference" title="Yip, S. P., Lovegrove, J. U., Rana, N. A., Hopkinson, D. A., Whitehouse, D. B. <strong>Mapping recombination hotspots in human phosphoglucomutase (PGM1).</strong> Hum. Molec. Genet. 8: 1699-1706, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441333</a>] [<a href="https://doi.org/10.1093/hmg/8.9.1699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441333">Yip et al. (1999)</a> obtained direct evidence for a high rate of intragenic recombination across this 58-kb region. From segregation analysis of PGM1 haplotypes in CEPH families, the recombination frequency was estimated to be 1.7%. <a href="#45" class="mim-tip-reference" title="Yip, S. P., Lovegrove, J. U., Rana, N. A., Hopkinson, D. A., Whitehouse, D. B. <strong>Mapping recombination hotspots in human phosphoglucomutase (PGM1).</strong> Hum. Molec. Genet. 8: 1699-1706, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441333</a>] [<a href="https://doi.org/10.1093/hmg/8.9.1699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441333">Yip et al. (1999)</a> also used a population genetics approach to map the patterns of linkage disequilibrium across the PGM1 gene in 3 diverse population samples (Caucasian, Chinese, and Vietnamese). By this approach they could compare indirect estimates of intragenic recombination with the meiotic data from family studies. Comprehensive pairwise allelic association analysis of the markers indicated the presence of 2 recombination 'hotspots': one between exons 1A and 4 and the other in the region of exon 7. These locations were consistent with the meiotic data and with the original hypothesis of intragenic recombination based on PGM1 isozyme analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10441333" 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="#27" class="mim-tip-reference" title="Rana, N. A., Ebenezer, N. D., Webster, A. R., Linares, A. R., Whitehouse, D. B., Povey, S., Hardcastle, A. J. <strong>Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.</strong> Hum. Molec. Genet. 13: 3089-3102, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15509594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15509594</a>] [<a href="https://doi.org/10.1093/hmg/ddh337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15509594">Rana et al. (2004)</a> genotyped 264 Caucasian, 222 Chinese, and 187 Vietnamese individuals at 18 SNPs within exons 1A to 4 of the PGM1 gene and constructed haplotypes. Allelic association and haplotype analysis revealed 3 hotspots and 3 haplotype blocks with identical spatial arrangement in all populations studied. The pattern of association within PGM1 represented a region decomposed into small blocks of linkage disequilibrium, where increased recombination activity has disrupted the ancestral chromosome. The authors observed overlap between meiotic crossovers, regions of low linkage disequilibrium, and sequence motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15509594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Congenital Disorder of Glycosylation, Type It</em></strong></p><p>
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In a man with exercise intolerance and episodic rhabdomyolysis resulting from PGM1 deficiency, <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a> identified compound heterozygous mutations in the PGM1 gene (<a href="#0001">171900.0001</a> and <a href="#0002">171900.0002</a>). Each unaffected parent carried 1 of the mutations. <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> reported follow-up of the patient reported by <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a> and concluded that he had biochemical features consistent with a congenital disorder of glycosylation (CDG1T; <a href="/entry/614921">614921</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19625727+24499211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with congenital disorder of glycosylation type 1T, <a href="#42" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified 2 different homozygous mutations in the PGM1 gene (<a href="#0003">171900.0003</a> and <a href="#0004">171900.0004</a>, respectively). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Transferrin isoelectric focusing in both patients showed abnormal N-glycosylation. In addition to the loss of complete N-glycans, there were minor bands of monosialo- and trisialotransferrin, suggesting the presence of incomplete glycans. Thus, the pattern could best be described as CDGI/II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 19 patients from 16 families with CDG1T, <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> identified 21 different homozygous or compound heterozygous mutations in the PGM1 gene (see, e.g., <a href="#0005">171900.0005</a>-<a href="#0009">171900.0009</a>). Three of the patients had previously been reported by <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a> and <a href="#42" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a>. The mutation in the first family identified by <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> was found by homozygosity mapping and whole-exome sequencing; mutations in additional families were found by Sanger sequencing. All patients studied had significantly decreased cellular PGM1 enzyme activity (range, 0.3-12% of controls). Patient cells showed considerable variability in the transferrin-glycoform profile, with forms lacking one or both glycans as well as forms with truncated glycans, consistent with a mixed type I/II pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22492991+19625727+24499211" 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="#20" class="mim-tip-reference" title="Lee, Y., Stiers, K. M., Kain, B. N., Beamer, L. J. <strong>Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.</strong> J. Biol. Chem. 289: 32010-32019, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25288802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25288802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25288802[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/10.1074/jbc.M114.597914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25288802">Lee et al. (2014)</a> evaluated 13 missense mutations in the PGM1 gene using a recombinant cellular expression system. Seven missense mutants (N38Y, <a href="#0006">171900.0006</a>; L516P, <a href="#0005">171900.0005</a>; D62H, <a href="#0007">171900.0007</a>; Q41R, G330R, E377K, and E388K) showed significantly reduced expression of soluble protein with increased insoluble protein, indicating increased aggregation. Of the 6 missense mutants that were soluble, 5 (G121R, <a href="#0003">171900.0003</a>; D263Y, <a href="#0008">171900.0008</a>; T19A, D263G, and G291R) showed significantly impaired catalytic activity (often less than 1% of wildtype), and 1 (T115A; <a href="#0001">171900.0001</a>) showed about 50% residual activity. The findings indicated 2 main PGM1-deficient biochemical phenotypes resulting from missense mutations: increased aggregation likely due to folding defects and decreased catalytic activity, with some mutations (e.g., D62H) showing combined defects. All of the mutations affected highly conserved residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25288802" 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="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a> reported molecular data on 54 patients with CDG1T, including 11 newly reported and 43 identified in a literature review. Forty-three individual mutations were identified in the PGM1 gene (see, e.g., <a href="#0004">171900.0004</a>; <a href="#0010">171900.0010</a>-<a href="#0013">171900.0013</a>). No genotype-phenotype correlation was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=171900[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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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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> rs121918371 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918371;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/rs121918371?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=rs121918371" 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=rs121918371" 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 man with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a> identified compound heterozygosity for 2 mutations in the PGM1 gene: a 343A-G transition resulting in a thr115-to-ala (T115A) substitution, and a G-to-C transversion in intron 7 resulting in a splice site mutation (IVS7-1G-C; <a href="#0002">171900.0002</a>). Each mutation was inherited from an unaffected parent and was not identified in 65 control individuals. The patient had exercise intolerance and episodes of rhabdomyolysis. PGM1 activity represented 1% of control values. <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a> originally reported the patient as having a form of glycogen storage disease (GSD14), but follow-up studies by <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> demonstrated biochemical features consistent with a congenital disorder of glycosylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19625727+24499211" 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>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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">rs587776801 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776801;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=rs587776801" 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=rs587776801" 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=RCV000014621" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014621" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014621</a>
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<p>For discussion of the splice site mutation in the PGM1 gene (IVS7-1G-C) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>) by <a href="#37" class="mim-tip-reference" title="Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. <strong>Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (Letter)</strong> New Eng. J. Med. 361: 425-427, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625727</a>] [<a href="https://doi.org/10.1056/NEJMc0901158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625727">Stojkovic et al. (2009)</a>, see <a href="#0001">171900.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19625727" 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>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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> rs398122912 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122912;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/rs398122912?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=rs398122912" 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=rs398122912" 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 boy of Colombian origin with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#42" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified a homozygous 415G-C transversion in the PGM1 gene, resulting in a gly121-to-arg (G121R) substitution at a highly conserved residue. Cosegregation of the mutation in the family could not be determined because the child was adopted. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The patient had dilated cardiomyopathy, cerebral venous thrombosis, and elevated liver enzymes, and died at age 8 years. Studies in patient fibroblasts showed 7% residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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> rs397515423 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515423;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/rs397515423?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=rs397515423" 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=rs397515423" 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 16-year-old girl with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#42" class="mim-tip-reference" title="Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. <strong>Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.</strong> Hum. Molec. Genet. 21: 4151-4161, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492991</a>] [<a href="https://doi.org/10.1093/hmg/dds123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492991">Timal et al. (2012)</a> identified a homozygous 1507C-T transition in the PGM1 gene, resulting in an arg503-to-ter (R503X) substitution and a truncated protein lacking the last 60 amino acids. Each unaffected parent was heterozygous for the mutation. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The patient had Pierre Robin sequence with cleft palate, chronic hepatitis, fatigue and dyspnea, and dilated cardiomyopathy. Laboratory studies showed elevated liver enzymes and increased serum creatine kinase. Studies in patient fibroblasts showed 8% residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Australian patient (patient 2) with CDG1T, <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a> identified compound heterozygous mutations in the PGM1 gene: R503X and an indel mutation (c.157_158delinsG; <a href="#0010">171900.0010</a>), predicted to result in a frameshift and premature termination (Gln53GlyfsTer15). The mutations were identified by PGM1 gene sequencing, and the parents were confirmed to be carriers. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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">rs587777401 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777401;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=rs587777401" 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=rs587777401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 brothers, born of consanguineous parents, with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> identified a homozygous c.1547T-C transition in the PGM1 gene, resulting in a leu516-to-pro (L516P) substitution within the sugar phosphate-binding domain. The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. The mutation was not found in the dbSNP or Exome Sequencing Project databases. Analysis of cell lines from 1 of the patients showed decreased PGM1 mRNA, and enzymatic activity was 4.4% of controls. The patients had cleft palate and bifid uvula, exercise intolerance, short stature, and abnormal liver enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24499211" 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">rs587777402 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777402;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=rs587777402" 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=rs587777402" 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=RCV000119800 OR RCV004719696" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000119800, RCV004719696" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000119800...</a>
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<p>In a 9-year-old girl with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> identified a homozygous c.112A-T transversion in exon 1A of the PGM1 gene, resulting in an asn38-to-tyr (N38Y) substitution in the PAK1 (<a href="/entry/602590">602590</a>)-binding region. Patient cells showed decreased PGM1 mRNA and decreased activity (3.1% of controls). The mutation was not found in the dbSNP or Exome Sequencing Project databases. The patient had cleft palate, Pierre-Robin sequence, bifid uvula, increased serum creatine kinase, and abnormal liver enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24499211" 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> rs587777403 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777403;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/rs587777403?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=rs587777403" 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=rs587777403" 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=RCV000119801 OR RCV000733693" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000119801, RCV000733693" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000119801...</a>
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<p>In 2 brothers with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> identified a homozygous c.184G-C transversion in exon 1A of the PGM1 gene, resulting in an asp62-to-his (D62H) substitution in the PAK1 (<a href="/entry/602590">602590</a>)-binding region. Patient cells showed 2.1% and 2.8% PGM1 activity levels compared to controls. The mutation was not found in the dbSNP or Exome Variant Server databases. The patients had cleft palate, Pierre-Robin sequence, bifid uvula, short stature, and abnormal liver enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24499211" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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> rs587777404 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777404;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/rs587777404?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=rs587777404" 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=rs587777404" 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=RCV000119802 OR RCV004529993 OR RCV004719697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000119802, RCV004529993, RCV004719697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000119802...</a>
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<p>In a 30-year-old woman with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a> identified compound heterozygous mutations in the PGM1 gene: a c.787G-T transversion, resulting in an asp263-to-tyr (D263Y) substitution, and a 1-bp deletion (c.661delC; <a href="#0009">171900.0009</a>), resulting in a frameshift and premature termination (Arg221ValfsTer13). Patient cells showed 0.3% residual enzymatic activity. Neither mutation was found in the dbSNP or Exome Variant Server databases. The patient had short stature, cleft palate, bifid uvula, abnormal liver enzymes, and exercise intolerance with severely increased serum creatine kinase and rhabdomyolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24499211" 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">rs587777405 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777405;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=rs587777405" 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=rs587777405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion in the PGM1 gene (c.661delC) that was found in a patient with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>) by <a href="#41" class="mim-tip-reference" title="Tegtmeyer, L. C., Rust, S., van Scherpenzeel, M., Ng, B. G., Losfeld, M.-E., Timal, S., Raymond, K., He, P., Ichikawa, M., Veltman, J., Huijben, K., Shin, Y. S., and 38 others. <strong>Multiple phenotypes in phosphoglucomutase 1 deficiency.</strong> New Eng. J. Med. 370: 533-542, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24499211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24499211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24499211[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/10.1056/NEJMoa1206605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24499211">Tegtmeyer et al. (2014)</a>, see <a href="#0008">171900.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24499211" 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">rs1647935062 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1647935062;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=rs1647935062" 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=rs1647935062" 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=RCV001239446 OR RCV003232262" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001239446, RCV003232262" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001239446...</a>
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<p>For discussion of the c.157_158delinsG mutation in the PGM1 gene, predicted to result in a frameshift and premature termination (Gln53GlyfsTer15), that was found in compound heterozygous state in an Australian patient with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>) by <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a>, see <a href="#0004">171900.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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=RCV001374709" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001374709" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001374709</a>
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<p>In a Pacific Islander (patient 11) with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a> identified homozygosity for a c.1561C-T transition in the PGM1 gene, predicted to result in an arg521-to-ter (R521X) substitution and to affect domain IV of the PGM1 gene. The mutation was identified by whole-genome sequencing. The patient had characteristic glycosylation abnormalities identified on mass spectrometry of transferrin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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> rs763428801 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs763428801;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/rs763428801?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=rs763428801" 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=rs763428801" 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=RCV000799107 OR RCV001267112" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000799107, RCV001267112" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000799107...</a>
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<p>In an Irish patient (patient 10) with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>), <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a> identified compound heterozygous mutations in the PGM1 gene: a 2-bp deletion (c.1378_1379delTC) resulting in a frameshift and premature termination (Ala461LysfsTer2), and another 2-bp deletion (c.87_88delCC; <a href="#0013">171900.0013</a>) resulting in a frameshift and predicted premature termination (Phe29LeufsTer75). The mutations were identified by sequencing a panel of genes associated with congenital disorders of glycosylation. Functional studies were not performed. (In Table 1 in the article by <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a>, this mutation is listed as c.1378_2379delTC.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</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">rs1570463842 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1570463842;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=rs1570463842" 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=rs1570463842" 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=RCV000820907" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000820907" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000820907</a>
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<p>For discussion of the c.87_88delCC mutation in the PGM1 gene, predicted to result in a frameshift and premature termination (Phe29LeufsTer75) that was found in compound heterozygous state in an Irish patient with congenital disorder of glycosylation type It (CDG1T; <a href="/entry/614921">614921</a>) by <a href="#4" class="mim-tip-reference" title="Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J. <strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong> Molec. Genet. Metab. 131: 135-146, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33342467">Conte et al. (2020)</a>, see <a href="#0012">171900.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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="#Bargagna1982" class="mim-tip-reference" title="Bargagna, M., Abbagnale, L. <strong>Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the population of Tuscany and two hereditary variants.</strong> Hum. Genet. 61: 242-245, 1982.">Bargagna and Abbagnale (1982)</a>; <a href="#Chagnon1981" class="mim-tip-reference" title="Chagnon, Y. C., Bouchard, C., Allard, C. <strong>Isoelectric focusing of red cell phosphoglucomutase (E.C.:2.7.5.1) at the PGM-1 locus in a French-Canadian population.</strong> Hum. Genet. 59: 36-38, 1981.">Chagnon et al. (1981)</a>; <a href="#Cook1972" class="mim-tip-reference" title="Cook, P. J. L., Noades, J., Hopkinson, D. A., Robson, E. B., Cleghorn, T. E. <strong>Demonstration of a sex difference in recombination fraction in the loose linkage, Rh and PGM(1).</strong> Ann. Hum. Genet. 35: 239-242, 1972.">Cook et al.
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(1972)</a>; <a href="#Francke1978" class="mim-tip-reference" title="Francke, U., George, D. L. <strong>Precise mapping of genes for phosphoglucomutase-1 and uridine monophosphate kinase on the short arm of human chromosome 1.</strong> Cytogenet. Cell Genet. 22: 384-388, 1978.">Francke and George (1978)</a>; <a href="#Gedde-Dahl1967" class="mim-tip-reference" title="Gedde-Dahl, T., Jr., Monn, E. <strong>Linkage relations of the phosphoglucomutase PGM(1) locus in man. Probable linkage to phenylthiocarbamid (PTC) taster locus.</strong> Acta Genet. Statist. Med. 17: 482-494, 1967.">Gedde-Dahl and Monn (1967)</a>; <a href="#Ishimoto1969" class="mim-tip-reference" title="Ishimoto, G. <strong>Placental phosphoglucomutase in Japanese.</strong> Jpn. J. Hum. Genet. 14: 183-188, 1969.">Ishimoto (1969)</a>; <a href="#Kamboh1983" class="mim-tip-reference" title="Kamboh, M. I., Kirk, R. L. <strong>Investigation of PGM1(3), PGM1(6), and PGM1(7) variants by isoelectric focusing: evidence for new subtypes of the PGM1(3) and PGM1(7) alleles.</strong> Hum. Genet. 64: 58-60, 1983.">Kamboh and Kirk (1983)</a>; <a href="#McAlpine1970" class="mim-tip-reference" title="McAlpine, P. J., Hopkinson, D. A., Harris, H. <strong>Thermostability studies on the isoenzymes of human phosphoglucomutase.</strong> Ann. Hum. Genet. 34: 61-71, 1970.">McAlpine et al. (1970)</a>; <a href="#Monn1967" class="mim-tip-reference" title="Monn, E. <strong>A new red cell phosphoglucomutase phenotype in man.</strong> Acta Genet. Statist. Med. 18: 123-127, 1967.">Monn
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(1967)</a>; <a href="#Quick1972" class="mim-tip-reference" title="Quick, C. B., Fisher, R. A., Harris, H. <strong>Differentiation of the PGM(2) locus isozymes from those of PGM(1) and PGM(3) in terms of phosphopentomutase activity.</strong> Ann. Hum. Genet. 35: 445-454, 1972.">Quick et al. (1972)</a>; <a href="#Robson1973" class="mim-tip-reference" title="Robson, E. B., Cook, P. J. L., Corney, G., Hopkinson, D. A., Noades, J., Cleghorn, T. E. <strong>Linkage data on Rh, PGM1, PGD, peptidase C and Fy from family studies.</strong> Ann. Hum. Genet. 36: 393-399, 1973.">Robson et al. (1973)</a>; <a href="#Sachs1981" class="mim-tip-reference" title="Sachs, V., Siemsen, M., Martin, W., Vollert, B. <strong>A new hereditary variant of the PGM(1) erythrocyte enzyme system determined by isoelectric focusing.</strong> Hum. Genet. 58: 411-413, 1981.">Sachs et al.
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(1981)</a>; <a href="#Santachiara-Benerecetti1972" class="mim-tip-reference" title="Santachiara-Benerecetti, A. S., Cattaneo, A., Meera Khan, P. <strong>Rare phenotypes of the PGM(1) and PGM(2) loci and a new PGM(2) variant allele in the Indians.</strong> Am. J. Hum. Genet. 24: 680-685, 1972.">Santachiara-Benerecetti et al. (1972)</a>; <a href="#Santachiara-Benerecetti1982" class="mim-tip-reference" title="Santachiara-Benerecetti, A. S., Ranzani, G. N., Antonini, G., Beretta, M. <strong>Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, 'haplotype' frequencies, and linkage disequilibrium data.</strong> Am. J. Hum. Genet. 34: 337-348, 1982.">Santachiara-Benerecetti et al. (1982)</a>; <a href="#Santachiara-Benerecetti1981" class="mim-tip-reference" title="Santachiara-Benerecetti, A. S., Ranzani, G. N., Antonini, G. <strong>Subtyping of human red cell phosphoglucomutase locus 1 (PGM-1) polymorphism: a third PGM-1(1) allele common among Twa pygmies from North Rwanda.</strong> Am. J. Hum. Genet. 33: 817-822, 1981.">Santachiara-Benerecetti et al.
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(1981)</a>; <a href="#Scozzari1984" class="mim-tip-reference" title="Scozzari, R., Iodice, C., Sellitto, D., Brdicka, R., Mura, G., Santachiara-Benerecetti, A. S. <strong>Population studies on human phosphoglucomutase-1 thermostability polymorphism.</strong> Hum. Genet. 68: 314-317, 1984.">Scozzari et al. (1984)</a>; <a href="#Shinoda1970" class="mim-tip-reference" title="Shinoda, T., Matsunaga, E. <strong>Polymorphism of red cell phosphoglucomutase among Japanese.</strong> Jpn. J. Hum. Genet. 14: 316-323, 1970.">Shinoda and Matsunaga (1970)</a>; <a href="#Tchen1980" class="mim-tip-reference" title="Tchen, P., Seger, J., Bois, E., Neel, J. V. <strong>Is there a PGM(1)4 allele specific to Amerindian populations?</strong> Hum. Genet. 53: 229-231, 1980.">Tchen
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et al. (1980)</a>; <a href="#Welch1978" class="mim-tip-reference" title="Welch, S. G., Swindlehurst, C. A., McGregor, I. A., Williams, K. <strong>Isoelectric focusing of human red cell phosphoglucomutase: the distribution of variant phenotypes in a village population from The Gambia, West Africa.</strong> Hum. Genet. 43: 307-313, 1978.">Welch et al. (1978)</a>
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Bargagna, M., Abbagnale, L.
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<strong>Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the population of Tuscany and two hereditary variants.</strong>
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Hum. Genet. 61: 242-245, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6217145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6217145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6217145" 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/BF00296450" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4736621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4736621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4736621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1973.tb00590.x" target="_blank">Full Text</a>]
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Chagnon, Y. C., Bouchard, C., Allard, C.
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<strong>Isoelectric focusing of red cell phosphoglucomutase (E.C.:2.7.5.1) at the PGM-1 locus in a French-Canadian population.</strong>
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Hum. Genet. 59: 36-38, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819019" 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/BF00278851" target="_blank">Full Text</a>]
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<a id="Conte2020" class="mim-anchor"></a>
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Conte, F., Morava, E., Abu Bakar, N., Wortmann, S. B., Poerink, A. J., Grunewald, S., Crushell, E., Al-Gazali, L., de Vries, M. C., Morkrid, L., Hertecant, J., Brocke Holmefjord, K. S., Kronn, D., Feigenbaum, A., Fingerhut, R., Wong, S. Y., van Scherpenzeel, M., Voermans, N. C., Lefeber, D. J.
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<strong>Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots.</strong>
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Molec. Genet. Metab. 131: 135-146, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33342467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33342467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33342467" 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/j.ymgme.2020.08.003" target="_blank">Full Text</a>]
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Cook, P. J. L., Noades, J. E., Newton, M. S., de Mey, R.
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<strong>On the orientation of the Rh:E1 linkage group.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/413469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">413469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=413469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1977.tb01910.x" target="_blank">Full Text</a>]
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Cook, P. J. L., Noades, J., Hopkinson, D. A., Robson, E. B., Cleghorn, T. E.
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<strong>Demonstration of a sex difference in recombination fraction in the loose linkage, Rh and PGM(1).</strong>
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Ann. Hum. Genet. 35: 239-242, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4627353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4627353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4627353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1957.tb01397.x" target="_blank">Full Text</a>]
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Cook, P. J. L., Robson, E. B., Buckton, K. E., Jacobs, P. A., Polani, P. E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4812948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4812948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4812948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1974.tb01834.x" target="_blank">Full Text</a>]
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Douglas, G. R., McAlpine, P. J., Hamerton, J. L.
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<strong>Regional localization of loci for human PGM(1) and 6PGD on human chromosome one by use of hybrids of Chinese hamster-human somatic cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4517931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4517931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4517931" 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/10.1073/pnas.70.10.2737" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2934981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2934981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2934981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ferrell, R. E., Escallon, M., Aguilar, L., Bertin, T.
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<strong>Erythrocyte phosphoglucomutase: a family study of a PGM1 deficient allele.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6236143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6236143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6236143" 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/BF00291358" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1242/jcs.25.1.39" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273078" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1966.tb00016.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00289480" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90451-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000153749" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M114.597914" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.90.22.10730" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1970.tb00220.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1042/bj2960417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1973.tb00603.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282825" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/8.9.1699" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/20/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/29/2014<br>Cassandra L. Kniffin - updated : 5/27/2014<br>Cassandra L. Kniffin - updated : 11/8/2012<br>Cassandra L. Kniffin - updated : 7/28/2009<br>Matthew B. Gross - updated : 7/23/2009<br>George E. Tiller - updated : 5/21/2007<br>Victor A. McKusick - updated : 10/13/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 04/21/2021
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carol : 04/20/2021<br>carol : 06/07/2019<br>carol : 09/15/2015<br>mcolton : 8/14/2015<br>carol : 1/6/2015<br>mcolton : 12/30/2014<br>ckniffin : 12/29/2014<br>carol : 6/4/2014<br>carol : 6/3/2014<br>mcolton : 5/27/2014<br>ckniffin : 5/27/2014<br>mcolton : 5/1/2014<br>carol : 11/8/2012<br>ckniffin : 11/8/2012<br>carol : 7/28/2009<br>ckniffin : 7/28/2009<br>mgross : 7/23/2009<br>wwang : 6/4/2007<br>terry : 5/21/2007<br>ckniffin : 6/13/2002<br>mgross : 10/18/1999<br>terry : 10/13/1999<br>terry : 5/5/1999<br>dkim : 7/7/1998<br>carol : 11/29/1994<br>davew : 7/14/1994<br>pfoster : 4/1/1994<br>warfield : 3/4/1994<br>carol : 12/9/1993<br>supermim : 3/16/1992
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<strong>*</strong> 171900
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<h3>
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PHOSPHOGLUCOMUTASE 1; PGM1
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<strong><em>HGNC Approved Gene Symbol: PGM1</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 783717008;
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<strong>
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<em>
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Cytogenetic location: 1p31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:63,593,411-63,660,245 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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1p31.3
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<span class="mim-font">
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Congenital disorder of glycosylation, type It
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<span class="mim-font">
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614921
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Phosphoglucomutases (PGM; EC 5.4.2.2) catalyze the transfer of phosphate between the 1 and 6 positions of glucose. Isozymes of PGM are monomeric, with molecular masses of about 60 kD, and are encoded by several genes, including PGM1. In most cell types, PGM1 isozymes predominate, representing about 90% of total PGM activity. One exception is red cells, where PGM2 (172000) is a major isozyme (Putt et al., 1993). </p>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>Hopkinson and Harris (1966) presented evidence for the existence of at least 2 structural PGM loci, PGM1 and PGM2. </p><p>Whitehouse et al. (1992) isolated a cDNA encoding human PGM1. Eighteen amino acid differences were found between human and rabbit PGM1. Southern blot analysis indicated that PGM1 is conserved among a wide variety of vertebrates ranging from primates to birds and amphibia. No evidence for PGM1-related sequences was found either by Southern blot analysis or by in situ hybridization. Thus, if the genes encoding human PGM2 and PGM3 (172100) arose by duplication from the same ancestral gene as PGM1, it seems likely that less than 65% sequence homology has been preserved. </p><p>In addition to the ubiquitously expressed Pgm1 transcript, a fast muscle-specific Pgm1 transcript, designated Pgm1fm, exists in rabbit. By PCR using primers derived from the 5-prime end of rabbit Pgm1fm, Putt et al. (1993) isolated human PGM1FM. Human PGM1 and PGM1FM contain alternative first exons, and the deduced PGM1FM protein contains 18 additional N-terminal amino acids compared with PGM1. Human PGM1FM appeared to be expressed at low levels in fast muscle only. </p>
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<h4>
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<strong>Gene Structure</strong>
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<p>Putt et al. (1993) determined that the PGM1 gene contains 12 exons, including 2 alternative first exons, exons 1A and 1B, that are specific to the ubiquitous PGM1 transcript and the fast muscle PGM1 transcript, respectively. PGM1 spans more than 65 kb, with about 29 kb separating exons 1A and 1B. The region encompassing exon 1A has features characteristic of a housekeeping promoter, including high GC content, high incidence of CpG dinucleotides, lack of TATA or CCAAT boxes, and 6 Sp1 (189906)-binding sites. In contrast, the region encompassing exon 1B is not GC rich, has a low incidence of CpG dinucleotides, and lacks Sp1-binding sites as well as TATA or CCAAT boxes, features consistent with a nonhousekeeping promoter. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Parrington et al. (1968) found that the PGM1, PGM2, and PGM3 genes are not closely linked. By cell hybridization, synteny of PGM1 and peptidase C (PEPC; 170000) was demonstrated by Billardon et al. (1973). These loci are on chromosome 1. Douglas et al. (1973) demonstrated that the PGM1 and 6PGD (PGD; 172200) genes are on the distal end of the short arm of chromosome 1. </p><p>Assuming that each arm of chromosome 1 is 140 male cM in length, Cook et al. (1974) concluded that, measured from the centromere, map positions are as follows: PGD 1p124; Rh (see 111680) 1p109; PGM1 1p079; Fy (110700) 1p010, PEPC 1q030. The Goss-Harris method of mapping by radiation-induced gene segregation combines features of recombinational study in families and synteny tests in hybrid cells. As applied to chromosome 1, the method shows that AK2 (103020) and UMPK (CMPK1; 191710) are distal to PGM1 and that the order of the genes is PGM1--UMPK--AK2/alpha-FUC (FUCA1; 612280)--ENO1 (172430) (Goss and Harris, 1977). On the basis of a family segregating for elliptocytosis (611804) and PGD, as well as the common polymorphisms Rh, PGM1, and alpha-fucosidase, Cook et al. (1977) concluded that the map of 1p is, in the male, 1pter--PGD--18%--El--2%--Rh--2%--alpha-FUC--25%--PGM1--centromere. In the female the intervals were estimated to be 22%, 4%, 2%, and 37%, respectively. </p><p>The anonymous fragment D1S2 was found to be 7 cM from PGM1 by linkage analysis (Kidd et al., 1988). DNA from somatic cell hybrids containing different portions of chromosome 1 was used for Southern blot analysis, placing D1S2 proximal to 1p32 and distal to PGM1. Kidd et al. (1990) suggested that the somatic cell localization of PGM1 to 1p22.1 may be in error, since linkage studies showed it to be 11.7 cM distal to ACADM (607008), which has been assigned to 1p31 by in situ hybridization. </p><p>Whitehouse et al. (1992) assigned the PGM1 gene to chromosome 1p31 by in situ hybridization. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>By starch gel electrophoresis, Spencer et al. (1964) demonstrated polymorphism of phosphoglucomutase. Hopkinson and Harris (1966) presented evidence suggesting that PGM1 is responsible for electrophoretically slow-moving components, and at least 5 alleles were identified. PGM2 determines the electrophoretically fast-moving components, and at least 3 alleles may exist at this locus. </p><p>By starch gel electrophoresis and by direct determination of activity, Ferrell et al. (1984) detected a deficiency allele at the PGM1 locus. In neither homozygous nor heterozygous state did the null allele have other phenotypic consequences. </p><p>Dykes et al. (1985) reported on a nomenclature workshop on PGM1 polymorphisms held in 1983. A total of 30 rare variants were identified and it was recommended that the 4 common alleles be designated as follows: PGM1*1A, PGM1*1B, PGM1*2A, and PGM1*2B. </p><p>In the course of paternity testing, Herbich et al. (1985) found an apparent maternal exclusion by the PGM1 enzyme system (mother PGM1 type 1, child PGM1 type 2) and by the Duffy blood group system (mother Fy(a-b+), child Fy(a+b-)). The father was not available for testing. The possibility that the child had been mistakenly identified after birth could be eliminated. The karyotype of the child showed a 'new fragile site' at 1p31, which contains the PGM1 and Duffy loci. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p><p>Takahashi et al. (1982) advanced a phylogeny that attributed 8 alleles of the PGM1 locus to 3 independent mutations in a primal allele, followed by 4 intragenic recombination events involving these mutants. Using the cDNA probes provided by Whitehouse et al. (1992) and Takahashi and Neel (1993), March et al. (1993) confirmed the earlier hypothesis based on protein studies by electrophoresis. The findings were interpreted as strongly supporting the view that only 2 point mutations were involved in the generation of the 4 common alleles and that 1 allele must have arisen by homologous intragenic recombination between these mutation sites. </p><p>PGM1 is a highly polymorphic protein. Three mutations and 4 intragenic recombination events between the 3 mutation sites generate 8 protein variants, including the 4 universally common alleles, 1+, 1-, 2+, and 2-, and 4 others that are polymorphic in some Oriental populations, 3+, 3-, 7+, and 7-. The mutations 3/7, 2/1, and +/- are in exons 1A, 4, and 8, and are 40 and 18 kb apart, respectively. Using 12 polymorphic markers, including 2/1 and +/-, Yip et al. (1999) obtained direct evidence for a high rate of intragenic recombination across this 58-kb region. From segregation analysis of PGM1 haplotypes in CEPH families, the recombination frequency was estimated to be 1.7%. Yip et al. (1999) also used a population genetics approach to map the patterns of linkage disequilibrium across the PGM1 gene in 3 diverse population samples (Caucasian, Chinese, and Vietnamese). By this approach they could compare indirect estimates of intragenic recombination with the meiotic data from family studies. Comprehensive pairwise allelic association analysis of the markers indicated the presence of 2 recombination 'hotspots': one between exons 1A and 4 and the other in the region of exon 7. These locations were consistent with the meiotic data and with the original hypothesis of intragenic recombination based on PGM1 isozyme analysis. </p><p>Rana et al. (2004) genotyped 264 Caucasian, 222 Chinese, and 187 Vietnamese individuals at 18 SNPs within exons 1A to 4 of the PGM1 gene and constructed haplotypes. Allelic association and haplotype analysis revealed 3 hotspots and 3 haplotype blocks with identical spatial arrangement in all populations studied. The pattern of association within PGM1 represented a region decomposed into small blocks of linkage disequilibrium, where increased recombination activity has disrupted the ancestral chromosome. The authors observed overlap between meiotic crossovers, regions of low linkage disequilibrium, and sequence motifs. </p><p><strong><em>Congenital Disorder of Glycosylation, Type It</em></strong></p><p>
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In a man with exercise intolerance and episodic rhabdomyolysis resulting from PGM1 deficiency, Stojkovic et al. (2009) identified compound heterozygous mutations in the PGM1 gene (171900.0001 and 171900.0002). Each unaffected parent carried 1 of the mutations. Tegtmeyer et al. (2014) reported follow-up of the patient reported by Stojkovic et al. (2009) and concluded that he had biochemical features consistent with a congenital disorder of glycosylation (CDG1T; 614921). </p><p>In 2 unrelated patients with congenital disorder of glycosylation type 1T, Timal et al. (2012) identified 2 different homozygous mutations in the PGM1 gene (171900.0003 and 171900.0004, respectively). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Transferrin isoelectric focusing in both patients showed abnormal N-glycosylation. In addition to the loss of complete N-glycans, there were minor bands of monosialo- and trisialotransferrin, suggesting the presence of incomplete glycans. Thus, the pattern could best be described as CDGI/II. </p><p>In 19 patients from 16 families with CDG1T, Tegtmeyer et al. (2014) identified 21 different homozygous or compound heterozygous mutations in the PGM1 gene (see, e.g., 171900.0005-171900.0009). Three of the patients had previously been reported by Stojkovic et al. (2009) and Timal et al. (2012). The mutation in the first family identified by Tegtmeyer et al. (2014) was found by homozygosity mapping and whole-exome sequencing; mutations in additional families were found by Sanger sequencing. All patients studied had significantly decreased cellular PGM1 enzyme activity (range, 0.3-12% of controls). Patient cells showed considerable variability in the transferrin-glycoform profile, with forms lacking one or both glycans as well as forms with truncated glycans, consistent with a mixed type I/II pattern. </p><p>Lee et al. (2014) evaluated 13 missense mutations in the PGM1 gene using a recombinant cellular expression system. Seven missense mutants (N38Y, 171900.0006; L516P, 171900.0005; D62H, 171900.0007; Q41R, G330R, E377K, and E388K) showed significantly reduced expression of soluble protein with increased insoluble protein, indicating increased aggregation. Of the 6 missense mutants that were soluble, 5 (G121R, 171900.0003; D263Y, 171900.0008; T19A, D263G, and G291R) showed significantly impaired catalytic activity (often less than 1% of wildtype), and 1 (T115A; 171900.0001) showed about 50% residual activity. The findings indicated 2 main PGM1-deficient biochemical phenotypes resulting from missense mutations: increased aggregation likely due to folding defects and decreased catalytic activity, with some mutations (e.g., D62H) showing combined defects. All of the mutations affected highly conserved residues. </p><p>Conte et al. (2020) reported molecular data on 54 patients with CDG1T, including 11 newly reported and 43 identified in a literature review. Forty-three individual mutations were identified in the PGM1 gene (see, e.g., 171900.0004; 171900.0010-171900.0013). No genotype-phenotype correlation was found. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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<strong>13 Selected Examples):</strong>
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<p />
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
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PGM1, THR115ALA
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SNP: rs121918371,
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gnomAD: rs121918371,
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ClinVar: RCV000014620
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<p>In a man with congenital disorder of glycosylation type It (CDG1T; 614921), Stojkovic et al. (2009) identified compound heterozygosity for 2 mutations in the PGM1 gene: a 343A-G transition resulting in a thr115-to-ala (T115A) substitution, and a G-to-C transversion in intron 7 resulting in a splice site mutation (IVS7-1G-C; 171900.0002). Each mutation was inherited from an unaffected parent and was not identified in 65 control individuals. The patient had exercise intolerance and episodes of rhabdomyolysis. PGM1 activity represented 1% of control values. Stojkovic et al. (2009) originally reported the patient as having a form of glycogen storage disease (GSD14), but follow-up studies by Tegtmeyer et al. (2014) demonstrated biochemical features consistent with a congenital disorder of glycosylation. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
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<span class="mim-text-font">
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PGM1, IVS7, G-C, -1
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<br />
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SNP: rs587776801,
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ClinVar: RCV000014621
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<span class="mim-text-font">
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<p>For discussion of the splice site mutation in the PGM1 gene (IVS7-1G-C) that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type It (CDG1T; 614921) by Stojkovic et al. (2009), see 171900.0001. </p>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, GLY121ARG
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs398122912,
|
|
|
|
|
|
gnomAD: rs398122912,
|
|
|
|
|
|
ClinVar: RCV000032990
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of Colombian origin with congenital disorder of glycosylation type It (CDG1T; 614921), Timal et al. (2012) identified a homozygous 415G-C transversion in the PGM1 gene, resulting in a gly121-to-arg (G121R) substitution at a highly conserved residue. Cosegregation of the mutation in the family could not be determined because the child was adopted. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The patient had dilated cardiomyopathy, cerebral venous thrombosis, and elevated liver enzymes, and died at age 8 years. Studies in patient fibroblasts showed 7% residual enzyme activity. </p>
|
|
</span>
|
|
</div>
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|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, ARG503TER
|
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|
|
|
|
<br />
|
|
|
|
SNP: rs397515423,
|
|
|
|
|
|
gnomAD: rs397515423,
|
|
|
|
|
|
ClinVar: RCV000032991, RCV004719669
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old girl with congenital disorder of glycosylation type It (CDG1T; 614921), Timal et al. (2012) identified a homozygous 1507C-T transition in the PGM1 gene, resulting in an arg503-to-ter (R503X) substitution and a truncated protein lacking the last 60 amino acids. Each unaffected parent was heterozygous for the mutation. The mutation was identified by exome sequencing and confirmed by Sanger sequencing. The patient had Pierre Robin sequence with cleft palate, chronic hepatitis, fatigue and dyspnea, and dilated cardiomyopathy. Laboratory studies showed elevated liver enzymes and increased serum creatine kinase. Studies in patient fibroblasts showed 8% residual enzyme activity. </p><p>In an Australian patient (patient 2) with CDG1T, Conte et al. (2020) identified compound heterozygous mutations in the PGM1 gene: R503X and an indel mutation (c.157_158delinsG; 171900.0010), predicted to result in a frameshift and premature termination (Gln53GlyfsTer15). The mutations were identified by PGM1 gene sequencing, and the parents were confirmed to be carriers. Functional studies were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, LEU516PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777401,
|
|
|
|
|
|
|
|
ClinVar: RCV000119799
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers, born of consanguineous parents, with congenital disorder of glycosylation type It (CDG1T; 614921), Tegtmeyer et al. (2014) identified a homozygous c.1547T-C transition in the PGM1 gene, resulting in a leu516-to-pro (L516P) substitution within the sugar phosphate-binding domain. The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. The mutation was not found in the dbSNP or Exome Sequencing Project databases. Analysis of cell lines from 1 of the patients showed decreased PGM1 mRNA, and enzymatic activity was 4.4% of controls. The patients had cleft palate and bifid uvula, exercise intolerance, short stature, and abnormal liver enzymes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, ASN38TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777402,
|
|
|
|
|
|
|
|
ClinVar: RCV000119800, RCV004719696
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old girl with congenital disorder of glycosylation type It (CDG1T; 614921), Tegtmeyer et al. (2014) identified a homozygous c.112A-T transversion in exon 1A of the PGM1 gene, resulting in an asn38-to-tyr (N38Y) substitution in the PAK1 (602590)-binding region. Patient cells showed decreased PGM1 mRNA and decreased activity (3.1% of controls). The mutation was not found in the dbSNP or Exome Sequencing Project databases. The patient had cleft palate, Pierre-Robin sequence, bifid uvula, increased serum creatine kinase, and abnormal liver enzymes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, ASP62HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777403,
|
|
|
|
|
|
gnomAD: rs587777403,
|
|
|
|
|
|
ClinVar: RCV000119801, RCV000733693
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with congenital disorder of glycosylation type It (CDG1T; 614921), Tegtmeyer et al. (2014) identified a homozygous c.184G-C transversion in exon 1A of the PGM1 gene, resulting in an asp62-to-his (D62H) substitution in the PAK1 (602590)-binding region. Patient cells showed 2.1% and 2.8% PGM1 activity levels compared to controls. The mutation was not found in the dbSNP or Exome Variant Server databases. The patients had cleft palate, Pierre-Robin sequence, bifid uvula, short stature, and abnormal liver enzymes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, ASP263TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777404,
|
|
|
|
|
|
gnomAD: rs587777404,
|
|
|
|
|
|
ClinVar: RCV000119802, RCV004529993, RCV004719697
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 30-year-old woman with congenital disorder of glycosylation type It (CDG1T; 614921), Tegtmeyer et al. (2014) identified compound heterozygous mutations in the PGM1 gene: a c.787G-T transversion, resulting in an asp263-to-tyr (D263Y) substitution, and a 1-bp deletion (c.661delC; 171900.0009), resulting in a frameshift and premature termination (Arg221ValfsTer13). Patient cells showed 0.3% residual enzymatic activity. Neither mutation was found in the dbSNP or Exome Variant Server databases. The patient had short stature, cleft palate, bifid uvula, abnormal liver enzymes, and exercise intolerance with severely increased serum creatine kinase and rhabdomyolysis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, 1-BP DEL, 661C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777405,
|
|
|
|
|
|
|
|
ClinVar: RCV000119803
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the PGM1 gene (c.661delC) that was found in a patient with congenital disorder of glycosylation type It (CDG1T; 614921) by Tegtmeyer et al. (2014), see 171900.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, c.157_158delinsG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1647935062,
|
|
|
|
|
|
|
|
ClinVar: RCV001239446, RCV003232262
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.157_158delinsG mutation in the PGM1 gene, predicted to result in a frameshift and premature termination (Gln53GlyfsTer15), that was found in compound heterozygous state in an Australian patient with congenital disorder of glycosylation type It (CDG1T; 614921) by Conte et al. (2020), see 171900.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, ARG521TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV001374709
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Pacific Islander (patient 11) with congenital disorder of glycosylation type It (CDG1T; 614921), Conte et al. (2020) identified homozygosity for a c.1561C-T transition in the PGM1 gene, predicted to result in an arg521-to-ter (R521X) substitution and to affect domain IV of the PGM1 gene. The mutation was identified by whole-genome sequencing. The patient had characteristic glycosylation abnormalities identified on mass spectrometry of transferrin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, 2-BP DEL, 1378TC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs763428801,
|
|
|
|
|
|
gnomAD: rs763428801,
|
|
|
|
|
|
ClinVar: RCV000799107, RCV001267112
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Irish patient (patient 10) with congenital disorder of glycosylation type It (CDG1T; 614921), Conte et al. (2020) identified compound heterozygous mutations in the PGM1 gene: a 2-bp deletion (c.1378_1379delTC) resulting in a frameshift and premature termination (Ala461LysfsTer2), and another 2-bp deletion (c.87_88delCC; 171900.0013) resulting in a frameshift and predicted premature termination (Phe29LeufsTer75). The mutations were identified by sequencing a panel of genes associated with congenital disorders of glycosylation. Functional studies were not performed. (In Table 1 in the article by Conte et al. (2020), this mutation is listed as c.1378_2379delTC.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PGM1, 2-BP DEL, 87CC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1570463842,
|
|
|
|
|
|
|
|
ClinVar: RCV000820907
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.87_88delCC mutation in the PGM1 gene, predicted to result in a frameshift and premature termination (Phe29LeufsTer75) that was found in compound heterozygous state in an Irish patient with congenital disorder of glycosylation type It (CDG1T; 614921) by Conte et al. (2020), see 171900.0012. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Bargagna and Abbagnale (1982); Chagnon et al. (1981); Cook et al.
|
|
(1972); Francke and George (1978); Gedde-Dahl and Monn (1967);
|
|
Ishimoto (1969); Kamboh and Kirk (1983); McAlpine et al. (1970); Monn
|
|
(1967); Quick et al. (1972); Robson et al. (1973); Sachs et al.
|
|
(1981); Santachiara-Benerecetti et al. (1972);
|
|
Santachiara-Benerecetti et al. (1982); Santachiara-Benerecetti et al.
|
|
(1981); Scozzari et al. (1984); Shinoda and Matsunaga (1970); Tchen
|
|
et al. (1980); Welch et al. (1978)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bargagna, M., Abbagnale, L.
|
|
<strong>Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the population of Tuscany and two hereditary variants.</strong>
|
|
Hum. Genet. 61: 242-245, 1982.
|
|
|
|
|
|
[PubMed: 6217145]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00296450]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Billardon, C., Van Cong, N., Picard, J. Y., Dekaouel, C., Rebourcet, R., Weil, D., Feingold, J., Frezal, J.
|
|
<strong>Linkage studies of enzyme markers in man-mouse somatic cell hybrids.</strong>
|
|
Ann. Hum. Genet. 36: 273-284, 1973.
|
|
|
|
|
|
[PubMed: 4736621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1973.tb00590.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chagnon, Y. C., Bouchard, C., Allard, C.
|
|
<strong>Isoelectric focusing of red cell phosphoglucomutase (E.C.:2.7.5.1) at the PGM-1 locus in a French-Canadian population.</strong>
|
|
Hum. Genet. 59: 36-38, 1981.
|
|
|
|
|
|
[PubMed: 10819019]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00278851]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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Hilary J. Vernon - updated : 04/20/2021<br>Cassandra L. Kniffin - updated : 12/29/2014<br>Cassandra L. Kniffin - updated : 5/27/2014<br>Cassandra L. Kniffin - updated : 11/8/2012<br>Cassandra L. Kniffin - updated : 7/28/2009<br>Matthew B. Gross - updated : 7/23/2009<br>George E. Tiller - updated : 5/21/2007<br>Victor A. McKusick - updated : 10/13/1999
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