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Entry
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- #306000 - GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
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- OMIM
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<p>
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<span class="h4">#306000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/306000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in 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://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20103&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK55061/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8487" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=306000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=264580" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div 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="collapsed 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 mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://www.LOVD.nl/PHKA2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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/disease/DOID:0111042" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/306000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111042" 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': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:306000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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>ORPHA:</strong> 264580<br />
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<strong>DO:</strong> 0111042<br />
|
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">ICD+</a>
|
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</div>
|
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<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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306000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LIVER GLYCOGENOSIS, X-LINKED, TYPE I; XLG1<br />
|
|
GLYCOGEN STORAGE DISEASE VIII, FORMERLY<br />
|
|
GSD VIII, FORMERLY; GSD8, FORMERLY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
GSD IXa2, INCLUDED<br />
|
|
LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102">
|
|
Xp22.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHKA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102">
|
|
Xp22.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHKA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/306000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/306000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/306000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br /> -
|
|
Normal final adult height <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856284</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Liver histology reveals glycogen-distended hepatocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844430</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Motor developmental delay, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746989</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Liver phosphorylase kinase (PHK) deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844431</a>]</span><br /> -
|
|
Phosphorylase kinase normal in muscle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844432</a>]</span><br /> -
|
|
Variable hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844433</a>]</span><br /> -
|
|
Mild elevation of transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844434</a>]</span><br /> -
|
|
Mild elevation of cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844435</a>]</span><br /> -
|
|
Mild elevation of triglycerides <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844436&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844436</a>]</span><br /> -
|
|
Fasting ketosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844437</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Clinical and biochemical abnormalities disappear with age<br />
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|
|
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</span>
|
|
</div>
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|
|
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</div>
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|
|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the liver phosphorylase alpha-2 subunit gene (PHKA2, <a href="/entry/300798#0001">300798.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
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</div>
|
|
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glycogen storage disease
|
|
- <a href="/phenotypicSeries/PS232200">PS232200</a>
|
|
- 24 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> 614921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> PGM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> 171900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIb </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIa </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> Glycogen storage disease IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> 232500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> GBE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> 607839 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763"> 3q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> ?Glycogen storage disease XV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> 613507 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> GYG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> 603942 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> Glycogen storage disease X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> 261670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> PGAM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> 612931 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> Glycogen storage disease of heart, lethal congenital </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> 261740 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> PRKAG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> 602743 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> Glycogen storage disease XI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> 612933 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> LDHA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> 150000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> McArdle disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> 232600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> PYGM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> 608455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> Glycogen storage disease Ic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> 232240 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> Glycogen storage disease Ib </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> 232220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> Glycogen storage disease 0, liver </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> 240600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> GYS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> 138571 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> Glycogen storage disease VII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> 232800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> PFKM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> 610681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> Glycogen storage disease VI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> 232700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> PYGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> 613741 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> Glycogen storage disease XII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> 611881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> ALDOA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> 103850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> Glycogen storage disease IXc </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> 613027 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> PHKG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> 172471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> 261750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> PHKB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> 172490 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> Glycogen storage disease XIII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> 612932 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> ENO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> 131370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> Glycogen storage disease Ia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> 232200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> G6PC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> 613742 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> Glycogen storage disease II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> 232300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> GAA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> 606800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> Glycogen storage disease 0, muscle </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> 611556 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> GYS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> 138570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> Glycogen storage disease, type IXa1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> PHKA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> Glycogen storage disease, type IXa2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/306000"> 306000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> PHKA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300798"> 300798 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/422?start=-3&limit=10&highlight=422"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300559"> Muscle glycogenosis </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300559"> 300559 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311870"> PHKA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311870"> 311870 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
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<p>A number sign (#) is used with this entry because glycogen storage disease type IXa (GSD9A1) and type IXa2 (GSD9A2) are caused by mutation in the PHKA2 gene (<a href="/entry/300798">300798</a>), which encodes the alpha-2 subunit of hepatic phosphorylase kinase, on chromosome Xp22.</p>
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<div class="mim-changed mim-change"><p>Glycogen storage disease type IX (GSD9) is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; <a href="/entry/172490">172490</a>), gamma (PHKG2; <a href="/entry/172471">172471</a>), and delta (CALM1; <a href="/entry/114180">114180</a>). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (<a href="/entry/261750">261750</a>), and GSD9C (<a href="/entry/613027">613027</a>), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.</p></div>
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<p>GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (<a href="#22" class="mim-tip-reference" title="Keating, J. P., Brown, B. I., White, N. H., DiMauro, S. <strong>X-linked glycogen storage disease: a cause of hypotonia, hyperuricemia, and growth retardation.</strong> Am. J. Dis. Child. 139: 609-613, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3859203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3859203</a>] [<a href="https://doi.org/10.1001/archpedi.1985.02140080079037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3859203">Keating et al., 1985</a>; <a href="#10" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J. <strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong> Genomics 21: 620-625, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959740</a>] [<a href="https://doi.org/10.1006/geno.1994.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959740">Hendrickx et al., 1994</a>; <a href="#1" class="mim-tip-reference" title="Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. <strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong> Molec. Genet. Metab. 92: 88-99, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689125">Beauchamp et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17689125+7959740+3859203" 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>See also X-linked muscle PHK deficiency (GSD9D; <a href="/entry/300559">300559</a>), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; <a href="/entry/311870">311870</a>).</p>
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<p>Glycogen storage disease IXa is one of the mildest of the glycogenoses of man. Clinical symptoms include hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis These clinical and biochemical abnormalities gradually disappear with age, and most adult patients are asymptomatic (<a href="#27" class="mim-tip-reference" title="Schimke, R. N., Zakheim, R. M., Corder, R. C., Hug, G. <strong>Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.</strong> J. Pediat. 83: 1031-1034, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4518931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4518931</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80544-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4518931">Schimke et al., 1973</a>; <a href="#32" class="mim-tip-reference" title="Willems, P. J., Gerver, W. J. M., Berger, R., Fernandes, J. <strong>The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.</strong> Europ. J. Pediat. 149: 268-271, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303074</a>] [<a href="https://doi.org/10.1007/BF02106291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2303074">Willems et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4518931+2303074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R. <strong>Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.</strong> Europ. J. Pediat. 157: 919-923, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9835437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9835437</a>] [<a href="https://doi.org/10.1007/s004310050967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9835437">Hendrickx et al. (1998)</a> presented clinical, biochemical, and molecular findings in a patient with GSD IXa2 who had been followed for 40 years. Although growth was retarded early in life, he achieved a height of 182 cm at the age of 33 years. Thyroid therapy appeared to be helpful in this patient. Five male relatives also had liver glycogenosis. Genetic analysis identified a mutation in the PHKA2 gene (R186H; <a href="/entry/300798#0008">300798.0008</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9835437" 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="#1" class="mim-tip-reference" title="Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. <strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong> Molec. Genet. Metab. 92: 88-99, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17689125">Beauchamp et al. (2007)</a> reported 10 patients from 8 families with GSD IXa confirmed by genetic analysis. Age at diagnosis ranged from 12 months to 7 years. Clinical features were variable, and included hepatomegaly, short stature, liver dysfunction, hypoglycemia, hyperuricemia, hyperlipidemia, fasting ketosis, and mild motor delay. Five of the 8 probands had a demonstrable reduction of PHK activity in erythrocytes, consistent with GSD IXa1. The majority of patients had private mutations. The authors emphasized that molecular analysis results in accurate diagnosis for GSD IX when enzymology is uninformative, and thus allows for proper genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689125" 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="#26" class="mim-tip-reference" title="Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S. <strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong> Molec. Genet. Metab. 113: 171-176, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25266922">Roscher et al. (2014)</a> reported on 21 patients (17 males and 4 females) from 17 unrelated families with GSD IXa, IXb (<a href="/entry/261750">261750</a>), IXc (<a href="/entry/613027">613027</a>), or VI (<a href="/entry/232700">232700</a>), which are caused by phosphorylation deficiencies. The average age was 11.66 years, with a range of 3 to 18 years. Eleven patients (53%) had GSD IXa; 3 (14%) had GSD IXb; 3 (14%) had GSD IXc; and 4 (19%) had GSD VI. The average age of initial presentation was 20 months (range 4-160 months). The GSD IXb patients presented earliest at the age of 5 months (range 4-6 months). Hepatomegaly was present in 95% of patients on physical examination and 100% on liver ultrasound. Four patients presented with failure to thrive, and 2 with short stature. None of the patients had intellectual disability or global developmental delay at most recent evaluation, although some had early developmental delay. Alanine transaminase (ALT) was elevated in 18 patients (86%), and aspartate transaminase (AST) was elevated in 19 (90%). Hypercholesterolemia was present in 14 of the 21 patients, and hypertriglyceridemia was present in 16. While previous reports noted hypoglycemia in 17 to 44% of patients with subtypes of GSD VI or GSD IX, hypoglycemia occurred in less than 5% of the patients in the cohort of <a href="#26" class="mim-tip-reference" title="Roscher, A., Patel, J., Hewson, S., Nagy, L., Feigenbaum, A., Kronick, J., Raiman, J., Schulze, A., Siriwardena, K., Mercimek-Mahmutoglu, S. <strong>The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada.</strong> Molec. Genet. Metab. 113: 171-176, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25266922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25266922</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.09.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25266922">Roscher et al. (2014)</a>. Two patients had developed likely liver adenomas at long-term follow-up, which had not theretofore been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25266922" 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="Fernandes, S. A., Cooper, G. E., Gibson R. A., Kishnani, P. S. <strong>Benign or not benign? Deep phenotyping of liver glycogen storage disease IX.</strong> Molec. Genet. Metab. 131: 299-305, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33317799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33317799</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33317799[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/10.1016/j.ymgme.2020.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33317799">Fernandes et al. (2020)</a> performed a comprehensive literature review of the clinical features of 183 individuals from 164 families with GSD9A2. The mean age at diagnosis was 4 years (range, 0.24 to 37 years). Of the 157 patients for whom initial presentation was reported, 141 presented with hepatomegaly, 56 with abnormal liver function, 47 with growth or developmental delay, 8 with frequent infections, 6 with frequent hunger, 6 with frequent hypoglycemia, 4 with fatigue, and 2 with anemia. Clinical features in the patient cohort included hepatomegaly (164 of 176 patients), delayed development (31 of 88 patients), and growth retardation (98 of 168 patients). Low enzyme activity was present in 101 of 116 patients tested. Other laboratory abnormalities included elevated AST/ALT levels (125 of 138 patients), hypertriglyceridemia (64 of 98 patients), fasting hypoglycemia (53 of 121 patients), fasting ketosis (21 of 34 patients), and hypercholesterolemia (41 of 90 patients). Sixty-eight patients had a liver biopsy at a mean age of 3.09 years, for which 46 pathology reports were evaluated; 24 biopsies showed no fibrosis, 7 showed mild fibrosis, 4 showed moderate fibrosis, 7 showed severe fibrosis, and 4 showed cirrhosis. One patient had a hepatic adenoma and no patients received a liver transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33317799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 boys with X-linked PHK-deficient glycogenosis, aged 29 months to 43 months, <a href="#5" class="mim-tip-reference" title="Garibaldi, L. R., Borrone, C., De Martini, I., Battistini, E. <strong>Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.</strong> Helv. Paediat. Acta 33: 435-444, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/280544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">280544</a>]" pmid="280544">Garibaldi et al. (1978)</a> found that dextrothyroxine (D-T4) had dramatic effects: the liver, previously greatly enlarged, returned to normal size; serum GOT, GPT, and triglycerides fell to normal; and hypoglycemia was corrected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=280544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Kishnani, P. S., Goldstein, J., Austin, S. L., Arn, P., Bachrach, B., Bali, D. S., Chung, W. K., El-Gharbawy, A., Brown, L. M., Kahler, S., Pendyal, S., Ross, K. M., Tsilianidis, L., Weinstein, D. A. Watson, M. S. <strong>Diagnosis and management of glycogen storage diseases type VI AND IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).</strong> Genet. Med. 21: 772-789, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30659246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30659246</a>] [<a href="https://doi.org/10.1038/s41436-018-0364-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30659246">Kishnani et al. (2019)</a> developed guidelines for the management of the multisystem effects of GSD IX and GSD VI (<a href="/entry/232700">232700</a>). To manage hepatic involvement, they recommended monitoring ALT, AST, albumin, gamma-glutamyl transferase (GGT), prothrombin time/INR, and alkaline phosphatase every 3-12 months, abdominal ultrasound every 12-13 months in children younger than age 18 years and an abdominal CT or MRI every 1-2 years in older patients. Monitoring of blood glucose and ketones was recommended to be done at diagnosis, after major dietary changes, and at times of stress including illness, intense activity, and rapid growth. Nutritional recommendations were aimed at improving metabolic control and preventing the primary (hypoglycemia, ketosis, hepatomegaly) and secondary (short stature, delayed puberty, cirrhosis) complications of both disorders. These recommendations included a high protein diet to provide 2 to 3 g/kg body weight or 20 to 25% of total calories, carbohydrates to provide 45 to 50% of total calories, and fat to provide 30% of total calories. Protein intake was recommended to be distributed throughout the day and consumed at each meal. The authors also noted that cornstarch may be required at bedtime to prevent overnight hypoglycemia. They recommended avoidance of medications that might mask symptoms of hypoglycemia (beta-blockers) or cause hypoglycemia (sulfonylureas), and noted that glucagon should not be used to treat hypoglycemia. Careful management to avoid hypoglycemia and other complications during pregnancy was also recommended. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30659246" 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="#34" class="mim-tip-reference" title="Williams, H. E., Field, J. B. <strong>Low leukocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease.</strong> J. Clin. Invest. 40: 1841-1845, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14007166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14007166</a>] [<a href="https://doi.org/10.1172/JCI104408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14007166">Williams and Field (1961)</a> found low leukocyte phosphorylase activity in 2 affected brothers, and normal activity in an unaffected brother and in the father. An intermediately low level in the mother, together with affected males, suggested X-linked inheritance. <a href="#31" class="mim-tip-reference" title="Wallis, P. G., Sidbury, J. B., Jr., Harris, R. C. <strong>Hepatic phosphorylase defect. Studies on peripheral blood.</strong> Am. J. Dis. Child. 111: 278-282, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5904467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5904467</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090060088008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5904467">Wallis et al. (1966)</a> restudied the family and with new methods found support for X-linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5904467+14007166" 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="#17" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong> Am. J. Hum. Genet. 21: 275-284, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306139</a>]" pmid="5306139">Huijing and Fernandes (1969)</a> studied 2 kindreds, 1 of which had 6 affected males and 2 possibly affected males. The other had 20 affected males, 2 affected females, and 7 probably affected males. X-linked inheritance was suggested. <a href="#18" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>Liver glycogenosis and phosphorylase kinase deficiency. (Letter)</strong> Am. J. Hum. Genet. 22: 484-485, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5270453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5270453</a>]" pmid="5270453">Huijing and Fernandes (1970)</a> suggested that affected females studied by <a href="#15" class="mim-tip-reference" title="Hug, G., Schubert, W. K., Chuck, G. <strong>Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.</strong> J. Clin. Invest. 48: 704-715, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5774108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5774108</a>] [<a href="https://doi.org/10.1172/JCI106028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5774108">Hug et al. (1969)</a> were heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5270453+5306139+5774108" 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 cloning cells of an obligate heterozygous female with GSD due to phosphorylase kinase deficiency, <a href="#25" class="mim-tip-reference" title="Migeon, B. R., Huijing, F. <strong>Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.</strong> Am. J. Hum. Genet. 26: 360-368, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4524311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4524311</a>]" pmid="4524311">Migeon and Huijing (1974)</a> demonstrated that some fibroblasts had enzymatic levels similar to those of affected hemizygotes. This was presented as proof of X-linkage and X-inactivation of the phosphorylase kinase locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4524311" 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="#33" class="mim-tip-reference" title="Willems, P. J., Hendrickx, J., Van der Auwera, B. J., Vits, L., Raeymaekers, P., Coucke, P. J., Van den Bergh, I., Berger, R., Smit, G. P. A., Van Broeckhoven, C., Kilimann, M. W., Van Elsen, A. F., Fernandes, J. F. <strong>Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.</strong> Genomics 9: 565-569, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674721</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90347-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674721">Willems et al. (1991)</a> performed linkage analysis with X-chromosomal polymorphic DNA markers in 2 families with X-linked liver glycogenosis. Multipoint linkage analysis indicated that the mutation responsible for X-linked liver glycogenosis was located on Xp22 between DXS143 and DXS41. Linkage to the muscle PHKA1 region on Xq12-q13 was excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674721" 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>Hendrickx et al. (<a href="#11" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992."None>1992</a>, <a href="#8" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong> Hum. Molec. Genet. 2: 583-589, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8518797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8518797</a>] [<a href="https://doi.org/10.1093/hmg/2.5.583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8518797">1993</a>) found a combined multipoint lod score of 16.79 for linkage of X-linked liver glycogenosis to chromosome Xp22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8518797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J. <strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong> Genomics 21: 620-625, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959740</a>] [<a href="https://doi.org/10.1006/geno.1994.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959740">Hendrickx et al. (1994)</a> performed linkage analysis in 4 families with GSD IXa2, who had residual PHK activity in erythrocytes, and showed that this form was also linked to Xp22. The authors concluded that this biochemical variant type was allelic to GSD IXa1, and that both diseases are likely caused by mutations in PHKA2. <a href="#10" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J. <strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong> Genomics 21: 620-625, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959740</a>] [<a href="https://doi.org/10.1006/geno.1994.1322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959740">Hendrickx et al. (1994)</a> proposed the classification of XLG into types I and II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 unrelated families with GSD IXa1, <a href="#9" class="mim-tip-reference" title="Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J. <strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong> Hum. Molec. Genet. 4: 77-83, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711737</a>] [<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711737">Hendrickx et al. (1995)</a> identified 4 different mutations in the PHKA2 gene (<a href="/entry/300798#0001">300798.0001</a>-<a href="/entry/300798#0004">300798.0004</a>). Clinical features were somewhat variable, but included growth retardation, hepatomegaly, elevated liver enzymes, and normalization of symptoms with age. PHK activity was decreased to less than 20% of control values in erythrocytes and in liver, when measured. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R. <strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong> Am. J. Hum. Genet. 56: 381-387, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>]" pmid="7847371">Van den Berg et al. (1995)</a> identified mutations in the PHKA2 gene (<a href="/entry/300798#0005">300798.0005</a> and <a href="/entry/300798#0006">300798.0006</a>) in affected members of 2 Dutch families with GSD IXa1. One of the families had been reported by <a href="#17" class="mim-tip-reference" title="Huijing, F., Fernandes, J. <strong>X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.</strong> Am. J. Hum. Genet. 21: 275-284, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5306139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5306139</a>]" pmid="5306139">Huijing and Fernandes (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5306139+7847371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> identified mutations in the PHKA2 gene in patients with GSD IXa2 (see <a href="#0008">306000.0008</a>-<a href="#0010">306000.0010</a>). The mutations appeared to cluster in limited sequence regions. <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W. <strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong> Hum. Molec. Genet. 5: 653-658, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>] [<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733134">Burwinkel et al. (1996)</a> stressed that the clustering of type II mutations would further facilitate analysis by RT-PCR of blood cell mRNA and thus help avoid liver biopsy in the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 unrelated patients with GSD IXa2, <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> identified 4 different mutations in the PHKA2 gene (<a href="#0011">306000.0011</a>-<a href="#0014">306000.0014</a>). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that may be involved in the regulation of PHK. <a href="#12" class="mim-tip-reference" title="Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J. <strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong> Hum. Molec. Genet. 5: 649-652, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733133</a>] [<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733133">Hendrickx et al. (1996)</a> postulated that PHK activity may be regulated by phosphorylation of these sites and that type II GSD9a may be due to impaired activation of PHK activity. The findings may explain why the in vitro PHK enzymatic activity is not deficient in type II, whereas it is in type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W. <strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong> Hum. Genet. 102: 423-429, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600238</a>] [<a href="https://doi.org/10.1007/s004390050715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600238">Burwinkel et al. (1998)</a> described 8 new mutations and phenotypic consequences in patients with X-linked liver glycogenosis. One of the patients reported by <a href="#2" class="mim-tip-reference" title="Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W. <strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong> Hum. Genet. 102: 423-429, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600238</a>] [<a href="https://doi.org/10.1007/s004390050715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600238">Burwinkel et al. (1998)</a> had low PHK activity in the liver but elevated levels in erythrocytes, typical of XLG type II. This patient had a lys189-to-glu missense mutation (K189E; <a href="#0015">306000.0015</a>). The authors noted that this observation adds to the growing body of evidence that the XLG phenotype is associated with missense mutations clustering at a few sites in the PHKA2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600238" 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="#13" class="mim-tip-reference" title="Hendrickx, J., Lee, P., Keating, J. P., Carton, D., Sardharwalla, I. B., Tuchman, M., Baussan, C., Willems, P. J. <strong>Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II.</strong> Am. J. Hum. Genet. 64: 1541-1549, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330341</a>] [<a href="https://doi.org/10.1086/302399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330341">Hendrickx et al. (1999)</a> identified PHKA2 mutations in 10 patients with XLG types I and II. They proposed that mutations in XLG type I, in which PHK activity is decreased in both liver and erythrocytes, results from truncation or disruption of the PHKA2 protein. In contrast, all type II mutations, which result in residual activity in erythrocytes, were missense mutations or small in-frame deletions and insertions. These results suggested that the biochemical differences between the 2 types of XLG are due to the different nature of the disease-causing mutations in PHKA2. Type I mutations may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme and deficient enzyme activity, whereas type II mutations may lead to in vivo deregulation of PHK, which might be difficult to demonstrate in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The classification, particularly the numbering, of the glycogenoses has long been a matter of dispute. For example, <a href="#20" class="mim-tip-reference" title="Huijing, F. <strong>Glycogen-storage disease type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity.</strong> Biochim. Biophys. Acta 206: 199-201, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5266383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5266383</a>] [<a href="https://doi.org/10.1016/0005-2744(70)90102-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5266383">Huijing (1970)</a> referred to this disorder as glycogen storage disease type VIA; <a href="#16" class="mim-tip-reference" title="Hug, G. <strong>Personal Communication.</strong> Cincinnati, Ohio 1974."None>Hug (1974)</a> assigned number VIII to a presumably recessive form of phosphorylase deficiency with brain involvement and number IX to phosphorylase kinase deficiency (see <a href="#27" class="mim-tip-reference" title="Schimke, R. N., Zakheim, R. M., Corder, R. C., Hug, G. <strong>Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.</strong> J. Pediat. 83: 1031-1034, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4518931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4518931</a>] [<a href="https://doi.org/10.1016/s0022-3476(73)80544-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4518931">Schimke et al., 1973</a>). <a href="#24" class="mim-tip-reference" title="McAdams, A. J., Hug, G., Bove, K. E. <strong>Glycogen storage disease, type I to X: criteria for morphologic diagnosis.</strong> Hum. Path. 5: 463-487, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4525190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4525190</a>] [<a href="https://doi.org/10.1016/s0046-8177(74)80024-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4525190">McAdams et al. (1974)</a> presented information on classification and morphology of the glycogenoses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4518931+5266383+4525190" 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="#28" class="mim-tip-reference" title="Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W. <strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong> Nature Genet. 5: 381-385, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>] [<a href="https://doi.org/10.1038/ng1293-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298647">Schneider et al. (1993)</a> reviewed the animal mutants that result in PHK-linked glycogenoses. Two different X-linked disorders are known, as well as an autosomal recessive PHK deficiency affecting the liver and most other tissues but not muscle, in the rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298647" 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="#Goji1985" class="mim-tip-reference" title="Goji, K., Morishita, Y., Kodama, S., Takahashi, T., Matsuo, T. <strong>Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.</strong> Europ. J. Pediat. 143: 179-182, 1985.">Goji et al. (1985)</a>; <a href="#Hers1959" class="mim-tip-reference" title="Hers, H. G. <strong>Etudes enzymatiques sur fragments hepatiques: application a la classification des glycogenoses.</strong> Rev. Int. Hepat. 9: 35-55, 1959.">Hers (1959)</a>; <a href="#Huijing1967" class="mim-tip-reference" title="Huijing, F. <strong>Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen-storage disease.</strong> Biochim. Biophys. Acta 148: 601-603, 1967.">Huijing (1967)</a>; <a href="#Huijing1970" class="mim-tip-reference" title="Huijing, F. <strong>Phosphorylase kinase deficiency.</strong> Biochem. Genet. 4: 187-194, 1970.">Huijing (1970)</a>; <a href="#Varsanyi1980" class="mim-tip-reference" title="Varsanyi, M., Vrbica, A., Heilmeyer, L. M. G., Jr. <strong>X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.</strong> Biochem. Genet. 18: 247-261, 1980.">Varsanyi et al. (1980)</a>
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Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M.
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<strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong>
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Molec. Genet. Metab. 92: 88-99, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17689125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17689125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17689125" 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.2007.06.007" target="_blank">Full Text</a>]
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Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W.
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<strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong>
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Hum. Genet. 102: 423-429, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600238" 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/s004390050715" target="_blank">Full Text</a>]
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Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W.
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<strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong>
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Hum. Molec. Genet. 5: 653-658, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.5.653" target="_blank">Full Text</a>]
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Fernandes, S. A., Cooper, G. E., Gibson R. A., Kishnani, P. S.
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<strong>Benign or not benign? Deep phenotyping of liver glycogen storage disease IX.</strong>
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Molec. Genet. Metab. 131: 299-305, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33317799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33317799</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33317799[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33317799" 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.2020.10.004" target="_blank">Full Text</a>]
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Garibaldi, L. R., Borrone, C., De Martini, I., Battistini, E.
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<strong>Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.</strong>
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Helv. Paediat. Acta 33: 435-444, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/280544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">280544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=280544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Goji, K., Morishita, Y., Kodama, S., Takahashi, T., Matsuo, T.
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<strong>Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.</strong>
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Europ. J. Pediat. 143: 179-182, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3987709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3987709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3987709" 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/BF00442132" target="_blank">Full Text</a>]
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Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R.
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<strong>Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.</strong>
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Europ. J. Pediat. 157: 919-923, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9835437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9835437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9835437" 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/s004310050967" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J.
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<strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong>
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Hum. Molec. Genet. 2: 583-589, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8518797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8518797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8518797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/2.5.583" target="_blank">Full Text</a>]
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Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J.
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<strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong>
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Hum. Molec. Genet. 4: 77-83, 1995.
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[<a href="https://doi.org/10.1093/hmg/4.1.77" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1322" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/5.5.649" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302399" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI106028" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0005-2744(70)90102-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00484029" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1293-381" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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|
<a id="van den Berg1995" class="mim-anchor"></a>
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|
<div class="">
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|
<p class="mim-text-font">
|
|
van den Berg, I. E. T., van Beurden, E. A. C. M., Malingre, H. E. M., Ploos van Amstel, H. K., Poll-The, B. T., Smeitink, J. A. M., Lamers, W. H., Berger, R.
|
|
<strong>X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.</strong>
|
|
Am. J. Hum. Genet. 56: 381-387, 1995.
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Varsanyi1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Varsanyi, M., Vrbica, A., Heilmeyer, L. M. G., Jr.
|
|
<strong>X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.</strong>
|
|
Biochem. Genet. 18: 247-261, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7447922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7447922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7447922" 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/BF00484240" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Wallis1966" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Wallis, P. G., Sidbury, J. B., Jr., Harris, R. C.
|
|
<strong>Hepatic phosphorylase defect. Studies on peripheral blood.</strong>
|
|
Am. J. Dis. Child. 111: 278-282, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5904467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5904467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5904467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1966.02090060088008" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Willems1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willems, P. J., Gerver, W. J. M., Berger, R., Fernandes, J.
|
|
<strong>The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.</strong>
|
|
Europ. J. Pediat. 149: 268-271, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2303074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2303074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2303074" 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/BF02106291" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Willems1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Willems, P. J., Hendrickx, J., Van der Auwera, B. J., Vits, L., Raeymaekers, P., Coucke, P. J., Van den Bergh, I., Berger, R., Smit, G. P. A., Van Broeckhoven, C., Kilimann, M. W., Van Elsen, A. F., Fernandes, J. F.
|
|
<strong>Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.</strong>
|
|
Genomics 9: 565-569, 1991.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1674721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/0888-7543(91)90347-h" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Williams1961" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Williams, H. E., Field, J. B.
|
|
<strong>Low leukocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease.</strong>
|
|
J. Clin. Invest. 40: 1841-1845, 1961.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14007166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14007166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14007166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI104408" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 03/16/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Hilary J. Vernon - updated : 09/18/2020<br>Ada Hamosh - updated : 5/27/2015<br>Cassandra L. Kniffin - reorganized : 10/1/2009<br>Cassandra L. Kniffin - updated : 9/24/2009<br>Victor A. McKusick - updated : 5/28/1999<br>Victor A. McKusick - updated : 2/3/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Clair A. Francomano - updated : 5/27/1998<br>Victor A. McKusick - updated : 11/17/1997<br>Moyra Smith - updated : 6/12/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 12/12/2024
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 03/29/2022<br>carol : 03/16/2021<br>carol : 09/19/2020<br>carol : 09/18/2020<br>alopez : 05/23/2017<br>alopez : 05/27/2015<br>alopez : 5/27/2015<br>carol : 4/29/2014<br>mcolton : 4/25/2014<br>carol : 12/1/2010<br>carol : 10/1/2009<br>ckniffin : 9/24/2009<br>carol : 1/6/2009<br>carol : 4/17/2007<br>carol : 4/17/2007<br>carol : 4/17/2007<br>alopez : 2/3/2006<br>terry : 4/6/2005<br>carol : 3/17/2004<br>mgross : 6/14/1999<br>mgross : 6/3/1999<br>terry : 5/28/1999<br>carol : 2/12/1999<br>terry : 2/3/1999<br>carol : 2/1/1999<br>terry : 1/25/1999<br>carol : 6/19/1998<br>terry : 6/16/1998<br>terry : 6/16/1998<br>dholmes : 5/28/1998<br>dholmes : 5/27/1998<br>dholmes : 5/21/1998<br>alopez : 5/8/1998<br>jenny : 11/20/1997<br>jenny : 11/19/1997<br>terry : 11/17/1997<br>alopez : 7/8/1997<br>mark : 3/27/1997<br>terry : 10/31/1996<br>carol : 6/12/1996<br>carol : 2/27/1995<br>davew : 8/22/1994<br>jason : 7/13/1994<br>warfield : 4/20/1994<br>mimadm : 4/13/1994<br>carol : 12/17/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 306000
|
|
</span>
|
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</h3>
|
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</div>
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|
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
|
|
|
|
</span>
|
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</h3>
|
|
</div>
|
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<div>
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<br />
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LIVER GLYCOGENOSIS, X-LINKED, TYPE I; XLG1<br />
|
|
GLYCOGEN STORAGE DISEASE VIII, FORMERLY<br />
|
|
GSD VIII, FORMERLY; GSD8, FORMERLY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
GSD IXa2, INCLUDED<br />
|
|
LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
<div>
|
|
<br />
|
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</div>
|
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
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|
|
|
<strong>ORPHA:</strong> 264580;
|
|
|
|
|
|
<strong>DO:</strong> 0111042;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xp22.13
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
306000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHKA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300798
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xp22.13
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease, type IXa2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
306000
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHKA2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300798
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because glycogen storage disease type IXa (GSD9A1) and type IXa2 (GSD9A2) are caused by mutation in the PHKA2 gene (300798), which encodes the alpha-2 subunit of hepatic phosphorylase kinase, on chromosome Xp22.</p>
|
|
</span>
|
|
<div>
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<strong>Description</strong>
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<p>Glycogen storage disease type IX (GSD9) is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (261750), and GSD9C (613027), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.</p><p>GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007). </p><p>See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870).</p>
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<strong>Clinical Features</strong>
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</h4>
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<p>Glycogen storage disease IXa is one of the mildest of the glycogenoses of man. Clinical symptoms include hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis These clinical and biochemical abnormalities gradually disappear with age, and most adult patients are asymptomatic (Schimke et al., 1973; Willems et al., 1990). </p><p>Hendrickx et al. (1998) presented clinical, biochemical, and molecular findings in a patient with GSD IXa2 who had been followed for 40 years. Although growth was retarded early in life, he achieved a height of 182 cm at the age of 33 years. Thyroid therapy appeared to be helpful in this patient. Five male relatives also had liver glycogenosis. Genetic analysis identified a mutation in the PHKA2 gene (R186H; 300798.0008) </p><p>Beauchamp et al. (2007) reported 10 patients from 8 families with GSD IXa confirmed by genetic analysis. Age at diagnosis ranged from 12 months to 7 years. Clinical features were variable, and included hepatomegaly, short stature, liver dysfunction, hypoglycemia, hyperuricemia, hyperlipidemia, fasting ketosis, and mild motor delay. Five of the 8 probands had a demonstrable reduction of PHK activity in erythrocytes, consistent with GSD IXa1. The majority of patients had private mutations. The authors emphasized that molecular analysis results in accurate diagnosis for GSD IX when enzymology is uninformative, and thus allows for proper genetic counseling. </p><p>Roscher et al. (2014) reported on 21 patients (17 males and 4 females) from 17 unrelated families with GSD IXa, IXb (261750), IXc (613027), or VI (232700), which are caused by phosphorylation deficiencies. The average age was 11.66 years, with a range of 3 to 18 years. Eleven patients (53%) had GSD IXa; 3 (14%) had GSD IXb; 3 (14%) had GSD IXc; and 4 (19%) had GSD VI. The average age of initial presentation was 20 months (range 4-160 months). The GSD IXb patients presented earliest at the age of 5 months (range 4-6 months). Hepatomegaly was present in 95% of patients on physical examination and 100% on liver ultrasound. Four patients presented with failure to thrive, and 2 with short stature. None of the patients had intellectual disability or global developmental delay at most recent evaluation, although some had early developmental delay. Alanine transaminase (ALT) was elevated in 18 patients (86%), and aspartate transaminase (AST) was elevated in 19 (90%). Hypercholesterolemia was present in 14 of the 21 patients, and hypertriglyceridemia was present in 16. While previous reports noted hypoglycemia in 17 to 44% of patients with subtypes of GSD VI or GSD IX, hypoglycemia occurred in less than 5% of the patients in the cohort of Roscher et al. (2014). Two patients had developed likely liver adenomas at long-term follow-up, which had not theretofore been reported. </p><p>Fernandes et al. (2020) performed a comprehensive literature review of the clinical features of 183 individuals from 164 families with GSD9A2. The mean age at diagnosis was 4 years (range, 0.24 to 37 years). Of the 157 patients for whom initial presentation was reported, 141 presented with hepatomegaly, 56 with abnormal liver function, 47 with growth or developmental delay, 8 with frequent infections, 6 with frequent hunger, 6 with frequent hypoglycemia, 4 with fatigue, and 2 with anemia. Clinical features in the patient cohort included hepatomegaly (164 of 176 patients), delayed development (31 of 88 patients), and growth retardation (98 of 168 patients). Low enzyme activity was present in 101 of 116 patients tested. Other laboratory abnormalities included elevated AST/ALT levels (125 of 138 patients), hypertriglyceridemia (64 of 98 patients), fasting hypoglycemia (53 of 121 patients), fasting ketosis (21 of 34 patients), and hypercholesterolemia (41 of 90 patients). Sixty-eight patients had a liver biopsy at a mean age of 3.09 years, for which 46 pathology reports were evaluated; 24 biopsies showed no fibrosis, 7 showed mild fibrosis, 4 showed moderate fibrosis, 7 showed severe fibrosis, and 4 showed cirrhosis. One patient had a hepatic adenoma and no patients received a liver transplant. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<p>In 4 boys with X-linked PHK-deficient glycogenosis, aged 29 months to 43 months, Garibaldi et al. (1978) found that dextrothyroxine (D-T4) had dramatic effects: the liver, previously greatly enlarged, returned to normal size; serum GOT, GPT, and triglycerides fell to normal; and hypoglycemia was corrected. </p><p>Kishnani et al. (2019) developed guidelines for the management of the multisystem effects of GSD IX and GSD VI (232700). To manage hepatic involvement, they recommended monitoring ALT, AST, albumin, gamma-glutamyl transferase (GGT), prothrombin time/INR, and alkaline phosphatase every 3-12 months, abdominal ultrasound every 12-13 months in children younger than age 18 years and an abdominal CT or MRI every 1-2 years in older patients. Monitoring of blood glucose and ketones was recommended to be done at diagnosis, after major dietary changes, and at times of stress including illness, intense activity, and rapid growth. Nutritional recommendations were aimed at improving metabolic control and preventing the primary (hypoglycemia, ketosis, hepatomegaly) and secondary (short stature, delayed puberty, cirrhosis) complications of both disorders. These recommendations included a high protein diet to provide 2 to 3 g/kg body weight or 20 to 25% of total calories, carbohydrates to provide 45 to 50% of total calories, and fat to provide 30% of total calories. Protein intake was recommended to be distributed throughout the day and consumed at each meal. The authors also noted that cornstarch may be required at bedtime to prevent overnight hypoglycemia. They recommended avoidance of medications that might mask symptoms of hypoglycemia (beta-blockers) or cause hypoglycemia (sulfonylureas), and noted that glucagon should not be used to treat hypoglycemia. Careful management to avoid hypoglycemia and other complications during pregnancy was also recommended. </p>
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<h4>
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<strong>Inheritance</strong>
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<p>Williams and Field (1961) found low leukocyte phosphorylase activity in 2 affected brothers, and normal activity in an unaffected brother and in the father. An intermediately low level in the mother, together with affected males, suggested X-linked inheritance. Wallis et al. (1966) restudied the family and with new methods found support for X-linkage. </p><p>Huijing and Fernandes (1969) studied 2 kindreds, 1 of which had 6 affected males and 2 possibly affected males. The other had 20 affected males, 2 affected females, and 7 probably affected males. X-linked inheritance was suggested. Huijing and Fernandes (1970) suggested that affected females studied by Hug et al. (1969) were heterozygotes. </p><p>By cloning cells of an obligate heterozygous female with GSD due to phosphorylase kinase deficiency, Migeon and Huijing (1974) demonstrated that some fibroblasts had enzymatic levels similar to those of affected hemizygotes. This was presented as proof of X-linkage and X-inactivation of the phosphorylase kinase locus. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<p>Willems et al. (1991) performed linkage analysis with X-chromosomal polymorphic DNA markers in 2 families with X-linked liver glycogenosis. Multipoint linkage analysis indicated that the mutation responsible for X-linked liver glycogenosis was located on Xp22 between DXS143 and DXS41. Linkage to the muscle PHKA1 region on Xq12-q13 was excluded. </p><p>Hendrickx et al. (1992, 1993) found a combined multipoint lod score of 16.79 for linkage of X-linked liver glycogenosis to chromosome Xp22. </p><p>Hendrickx et al. (1994) performed linkage analysis in 4 families with GSD IXa2, who had residual PHK activity in erythrocytes, and showed that this form was also linked to Xp22. The authors concluded that this biochemical variant type was allelic to GSD IXa1, and that both diseases are likely caused by mutations in PHKA2. Hendrickx et al. (1994) proposed the classification of XLG into types I and II. </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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<span class="mim-text-font">
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<p>In affected members of 4 unrelated families with GSD IXa1, Hendrickx et al. (1995) identified 4 different mutations in the PHKA2 gene (300798.0001-300798.0004). Clinical features were somewhat variable, but included growth retardation, hepatomegaly, elevated liver enzymes, and normalization of symptoms with age. PHK activity was decreased to less than 20% of control values in erythrocytes and in liver, when measured. </p><p>Van den Berg et al. (1995) identified mutations in the PHKA2 gene (300798.0005 and 300798.0006) in affected members of 2 Dutch families with GSD IXa1. One of the families had been reported by Huijing and Fernandes (1969). </p><p>Burwinkel et al. (1996) identified mutations in the PHKA2 gene in patients with GSD IXa2 (see 306000.0008-306000.0010). The mutations appeared to cluster in limited sequence regions. Burwinkel et al. (1996) stressed that the clustering of type II mutations would further facilitate analysis by RT-PCR of blood cell mRNA and thus help avoid liver biopsy in the diagnosis. </p>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</h4>
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<p>In 4 unrelated patients with GSD IXa2, Hendrickx et al. (1996) identified 4 different mutations in the PHKA2 gene (306000.0011-306000.0014). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that may be involved in the regulation of PHK. Hendrickx et al. (1996) postulated that PHK activity may be regulated by phosphorylation of these sites and that type II GSD9a may be due to impaired activation of PHK activity. The findings may explain why the in vitro PHK enzymatic activity is not deficient in type II, whereas it is in type I. </p><p>Burwinkel et al. (1998) described 8 new mutations and phenotypic consequences in patients with X-linked liver glycogenosis. One of the patients reported by Burwinkel et al. (1998) had low PHK activity in the liver but elevated levels in erythrocytes, typical of XLG type II. This patient had a lys189-to-glu missense mutation (K189E; 306000.0015). The authors noted that this observation adds to the growing body of evidence that the XLG phenotype is associated with missense mutations clustering at a few sites in the PHKA2 gene. </p><p>Hendrickx et al. (1999) identified PHKA2 mutations in 10 patients with XLG types I and II. They proposed that mutations in XLG type I, in which PHK activity is decreased in both liver and erythrocytes, results from truncation or disruption of the PHKA2 protein. In contrast, all type II mutations, which result in residual activity in erythrocytes, were missense mutations or small in-frame deletions and insertions. These results suggested that the biochemical differences between the 2 types of XLG are due to the different nature of the disease-causing mutations in PHKA2. Type I mutations may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme and deficient enzyme activity, whereas type II mutations may lead to in vivo deregulation of PHK, which might be difficult to demonstrate in vitro. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The classification, particularly the numbering, of the glycogenoses has long been a matter of dispute. For example, Huijing (1970) referred to this disorder as glycogen storage disease type VIA; Hug (1974) assigned number VIII to a presumably recessive form of phosphorylase deficiency with brain involvement and number IX to phosphorylase kinase deficiency (see Schimke et al., 1973). McAdams et al. (1974) presented information on classification and morphology of the glycogenoses. </p>
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</span>
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<h4>
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Schneider et al. (1993) reviewed the animal mutants that result in PHK-linked glycogenoses. Two different X-linked disorders are known, as well as an autosomal recessive PHK deficiency affecting the liver and most other tissues but not muscle, in the rat. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Goji et al. (1985); Hers (1959); Huijing (1967); Huijing (1970);
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Varsanyi et al. (1980)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.-L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M.
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<strong>Glycogen storage disease type IX: high variability in clinical phenotype.</strong>
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Molec. Genet. Metab. 92: 88-99, 2007.
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[PubMed: 17689125]
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[Full Text: https://doi.org/10.1016/j.ymgme.2007.06.007]
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</p>
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</li>
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<li>
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Burwinkel, B., Amat, L., Gray, R. G. F., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R. J., Vilaseca, M. A., Kilimann, M. W.
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<strong>Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.</strong>
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Hum. Genet. 102: 423-429, 1998.
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[PubMed: 9600238]
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[Full Text: https://doi.org/10.1007/s004390050715]
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Burwinkel, B., Shin, Y. S., Bakker, H. D., Deutsch, J., Lozano, M. J., Maire, I., Kilimann, M. W.
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<strong>Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).</strong>
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Hum. Molec. Genet. 5: 653-658, 1996.
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[PubMed: 8733134]
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[Full Text: https://doi.org/10.1093/hmg/5.5.653]
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</p>
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</li>
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<p class="mim-text-font">
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Fernandes, S. A., Cooper, G. E., Gibson R. A., Kishnani, P. S.
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<strong>Benign or not benign? Deep phenotyping of liver glycogen storage disease IX.</strong>
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Molec. Genet. Metab. 131: 299-305, 2020.
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[PubMed: 33317799]
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[Full Text: https://doi.org/10.1016/j.ymgme.2020.10.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Garibaldi, L. R., Borrone, C., De Martini, I., Battistini, E.
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<strong>Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.</strong>
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Helv. Paediat. Acta 33: 435-444, 1978.
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[PubMed: 280544]
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</li>
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<li>
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<p class="mim-text-font">
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Goji, K., Morishita, Y., Kodama, S., Takahashi, T., Matsuo, T.
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<strong>Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.</strong>
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Europ. J. Pediat. 143: 179-182, 1985.
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[PubMed: 3987709]
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[Full Text: https://doi.org/10.1007/BF00442132]
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</li>
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<li>
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<p class="mim-text-font">
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Hendrickx, J., Bosshard, N. U., Willems, P., Gitzelmann, R.
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<strong>Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.</strong>
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Europ. J. Pediat. 157: 919-923, 1998.
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[PubMed: 9835437]
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[Full Text: https://doi.org/10.1007/s004310050967]
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<p class="mim-text-font">
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Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G. P. A., Stolte, I., Sardharwalla, I. B., Berthelot, J., Van den Bergh, I., Berger, R., Van Broeckhoven, C., Baussan, C., Wapenaar, M., Fernandes, J., Willems, P. J.
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<strong>X-linked liver glycogenosis: localization and isolation of a candidate gene.</strong>
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Hum. Molec. Genet. 2: 583-589, 1993.
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[PubMed: 8518797]
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[Full Text: https://doi.org/10.1093/hmg/2.5.583]
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</p>
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</li>
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<p class="mim-text-font">
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Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F., Willems, P. J.
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<strong>Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.</strong>
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Hum. Molec. Genet. 4: 77-83, 1995.
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[PubMed: 7711737]
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[Full Text: https://doi.org/10.1093/hmg/4.1.77]
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</li>
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<li>
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<p class="mim-text-font">
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Hendrickx, J., Coucke, P., Hors-Cayla, M.-C., Smit, G. P. A., Shin, Y. S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J., Willems, P. J.
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<strong>Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).</strong>
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Genomics 21: 620-625, 1994.
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[PubMed: 7959740]
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[Full Text: https://doi.org/10.1006/geno.1994.1322]
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</li>
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<li>
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<p class="mim-text-font">
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Hendrickx, J., Coucke, P., Raeymaekers, P., Willems, P. J.
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<strong>X-linked liver glycogenosis: localization and isolation of a strong candidate gene. (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A190 only, 1992.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P. J.
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<strong>X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.</strong>
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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