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- #232220 - GLYCOGEN STORAGE DISEASE Ib; GSD1B
- OMIM
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<span class="h4">#232220</span>
<br />
<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/232220"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#pathogenesis">Pathogenesis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE Ib" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=645&Typ=Pat" title="Glycogen storage disease due to glucose-6-phosphatase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11285&Typ=Pat" title="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1312/" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364" title="Glycogen storage disease due to glucose-6-phosphatase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79259" title="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0081330" 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>
<div><a href="http://www.informatics.jax.org/disease/232220" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0081330" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232220" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 30102006<br />
<strong>ORPHA:</strong> 364, 79259<br />
<strong>DO:</strong> 0081330<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
232220
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLYCOGEN STORAGE DISEASE Ib; GSD1B
</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">
GSD Ib<br />
GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
</span>
</h4>
</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/11/1001?start=-3&limit=10&highlight=1001">
11q23.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Glycogen storage disease Ib
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232220"> 232220 </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">
SLC37A4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> 602671 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/232220" 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>
&nbsp;
<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>
&nbsp;
<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/232220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/232220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400003000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400003000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123526007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123526007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 'Doll-like' facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000295" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000295</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lipemia retinalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95692001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95692001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Oral ulcers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26284000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26284000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000155</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Protuberant abdomen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span><br />
</span>
</div>
</div>
<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 /> -
Liveradenomas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856358</a>]</span><br /> -
Hepatocellular carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109841003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109841003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/187769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">187769009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1186630006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1186630006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25370001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25370001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C22.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C22.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2239176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239176</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Chronic inflammatory bowel disease (IBD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856359</a>]</span><br /> -
Intestinal mucosal ulceration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856360</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced creatinine clearance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/863929001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">863929001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853068</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</a>]</span><br /> -
Focal segmental glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br /> -
Renal stones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95570007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392525</a>, <a href="https://bioportal.bioontology.org/search?q=C0022650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span><br /> -
Renal enlargement <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br /> -
Gouty arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48440001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48440001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/170733007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">170733007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190828008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190828008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003868</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Xanthoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75594004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75594004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63103006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63103006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302314</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Neutropenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br /> -
Abnormal leukocyte function <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24827003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24827003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/134199001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">134199001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152009&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152009</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001881" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001881</a>]</span><br />
</span>
</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">
- T1 transport protein (Glucose-6-phosphate translocase) defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856362</a>]</span><br /> -
Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> -
Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br /> -
Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
Liver transaminases normal to slightly increased <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856363</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Recurrent bacterial infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428875002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428875002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002718</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the glucose-6-phosphate transporter 1 gene (G6PT1, <a href="/entry/602671#0001">602671.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
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>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that type Ib glycogen storage disease (GSD1B) is caused by homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4; <a href="/entry/602671">602671</a>), which encodes glucose-6-phosphate translocase, on chromosome 11q23.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#30" class="mim-tip-reference" title="Senior, B., Loridan, L. &lt;strong&gt;Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.&lt;/strong&gt; New Eng. J. Med. 279: 965-970, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4300573/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4300573&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196810312791803&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4300573">Senior and Loridan (1968)</a> proposed the existence of a second type of von Gierke disease in which, although glucose-6-phosphatase (G6PC; <a href="/entry/613742">613742</a>) activity is present on in vitro assay, glucose is not liberated from glucose-6-phosphate in vivo. They referred to this as 'functional deficiency of G6P.' They pointed out that some mutants in Neurospora show impaired enzyme function in the intact fungus despite normal activity in homogenates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4300573" 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="Arion, W. J., Wallin, B. K., Lange, A. J., Ballas, L. M. &lt;strong&gt;On the involvement of a glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphate.&lt;/strong&gt; Molec. Cell. Biochem. 6: 75-83, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/235736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;235736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01732001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="235736">Arion et al. (1975)</a> concluded that G6Pase activity requires 2 components of the microsomal membrane: (1) a glucose-6-phosphate specific transport system that shuttles G6P from the cytoplasm to the lumen of the endoplasmic reticulum (a G6P translocase), and (2) an enzyme, glucose-6-phosphate phosphohydrolase, bound to the luminal surface of the membrane. <a href="#20" class="mim-tip-reference" title="Narisawa, K., Igarashi, Y., Otomo, H., Tada, K. &lt;strong&gt;A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 83: 1360-1364, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/212064/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;212064&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(78)91371-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="212064">Narisawa et al. (1978)</a> described a patient with GSD who appeared to have a defect in the transport system. In liver without detergent, enzyme activity was very low but normal activity was obtained by addition of detergent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=212064+235736" 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="#18" class="mim-tip-reference" title="Kuzuya, T., Matsuda, A., Yoshida, S., Narisawa, K., Tada, K., Saito, T., Matsushita, M. &lt;strong&gt;An adult case of type Ib glycogen-storage disease: enzymatic and histochemical studies.&lt;/strong&gt; New Eng. J. Med. 308: 566-569, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6298622/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6298622&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198303103081004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6298622">Kuzuya et al. (1983)</a> reported a 25-year-old patient with GSD. Protuberant abdomen and diarrhea were noted at age 1 or 2 years, and short stature and hepatomegaly at age 4 years. At age 18, yellowish-red spots appeared on her legs and hypertension was detected. At age 20, she was 138 cm tall. Eruptive xanthoma and hyperlipidemia were present. Liver scintigraphy suggested the presence of adenomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6298622" 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>Recurrent infections and neutropenia have been recognized as distinctive features of GSD Ib. <a href="#7" class="mim-tip-reference" title="Corbeel, L., Boogaerts, M., Van den Berghe, G., Everaerts, M. C., Marchal, G., Eeckels, R. &lt;strong&gt;Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.&lt;/strong&gt; Europ. J. Pediat. 140: 273-275, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6578929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6578929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00443375&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6578929">Corbeel et al. (1983)</a> provided a 6-year follow-up on the hematologic effects of termino-lateral portacaval anastomosis. Granulocyte counts returned to normal and recurrent infections ceased after the shunt. Platelet dysfunction, evident before surgery, was also corrected. Marked hypochromic anemia, probably caused by sequestration of iron in the spleen and resistant to therapy, was a persistent feature in this patient. The mechanism of the granulocyte defect in this disorder was discussed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6578929" 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="Roe, T. F., Thomas, D. W., Gilsanz, V., Isaacs, H., Jr., Atkinson, J. B. &lt;strong&gt;Inflammatory bowel disease in glycogen storage disease type Ib.&lt;/strong&gt; J. Pediat. 109: 55-59, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3459848/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3459848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(86)80572-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3459848">Roe et al. (1986)</a> observed Crohn disease in 2 unrelated boys with GSD Ib. Their neutrophils showed severe chronic neutropenia and markedly deficient chemotactic response, whereas the leukocytes were normal in 4 patients with GSD Ia (<a href="/entry/232200">232200</a>). Thus, chronic inflammatory bowel disease (IBD; see <a href="/entry/266600">266600</a>) appears to be an integral part of GSD Ib and the abnormality of leukocytes is probably involved in the pathogenesis of the IBD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3459848" 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>Oral lesions and perianal abscesses are common in this disorder (<a href="#1" class="mim-tip-reference" title="Ambruso, D. R., McCabe, E. R. B., Anderson, D., Beaudet, A., Ballas, L. M., Brandt, I. K., Brown, B., Coleman, R., Dunger, D. B., Falletta, J. M., Friedman, H. S., Haymond, M. W., Keating, J. P., Kinney, T. R., Leonard, J. V., Mahoney, D. H., Jr., Matalon, R., Roe, T. F., Simmons, P., Slonim, A. E. &lt;strong&gt;Infectious and bleeding complications in patients with glycogenosis Ib.&lt;/strong&gt; Am. J. Dis. Child. 139: 691-697, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3860000/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3860000&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1985.02140090053027&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3860000">Ambruso et al., 1985</a>). <a href="#32" class="mim-tip-reference" title="Ueno, N., Tomita, M., Ariga, T., Ohkawa, M., Nagano, S., Takahashi, Y., Arashima, S., Matsumoto, S. &lt;strong&gt;Impaired monocyte function in glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Pediat. 145: 312-314, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3464427/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3464427&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00439409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3464427">Ueno et al. (1986)</a> found that neutrophils were defective in both motility and respiratory burst, whereas monocytes showed a defect only in respiratory burst. <a href="#4" class="mim-tip-reference" title="Bashan, N., Hagai, Y., Potashnik, R., Moses, S. W. &lt;strong&gt;Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.&lt;/strong&gt; J. Clin. Invest. 81: 1317-1322, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3163346/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3163346&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113457&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3163346">Bashan et al. (1988)</a> showed that the rate of 2-deoxyglucose transport into GSD Ib polymorphonuclear leukocytes was 30% of that into cells of normal controls. Transport was normal in GSD Ib lymphocytes and in GSD Ia polymorphonuclear leukocytes and lymphocytes. The striking limitation of glucose transport across the cell membrane of polymorphonuclear leukocytes probably accounts for the impairment of leukocyte function that is characteristic of GSD Ib but not GSD Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3860000+3464427+3163346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a multicenter study in the United States and Canada, <a href="#31" class="mim-tip-reference" title="Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I. &lt;strong&gt;Glycogen storage disease in adults.&lt;/strong&gt; Ann. Intern. Med. 120: 218-226, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8273986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8273986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-120-3-199402010-00008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8273986">Talente et al. (1994)</a> identified 5 patients with GSD type Ib who were 18 years of age or older. Severe recurrent bacterial infections and gingivitis were present. One patient, a 22-year-old college student, was described in detail. She had severe recurrent stomatitis, recurrent otitis media and externa, perianal and perirectal abscesses, and, at the age of 12 years, 2 brain abscesses due to Staphylococcus aureus. At 18 years of age, she was as tall as an 8-year-old and had not undergone any pubertal changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8273986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with GSD Ib, <a href="#11" class="mim-tip-reference" title="Heyne, K., Henke-Wolter, J. &lt;strong&gt;Glycogen storage disease Ib: modification of alpha-1-antitrypsin glycoprotein microheterogeneity.&lt;/strong&gt; Europ. J. Pediat. 148: 341-343, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2785037/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2785037&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00444130&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2785037">Heyne and Henke-Wolter (1989)</a> found a change in the oligosaccharide side chains of the alpha-1-antitrypsin (<a href="/entry/107400">107400</a>) glycoprotein suggesting effects of the limited availability of glucose or glucose derivatives for the synthesis of N-glycosidic glycoproteins. <a href="#14" class="mim-tip-reference" title="Kikuchi, M., Haginoya, K., Miyabayashi, S., Igarashi, Y., Narisawa, K., Tada, K. &lt;strong&gt;Secondary amyloidosis in glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Pediat. 149: 344-345, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2311631/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2311631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02171563&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2311631">Kikuchi et al. (1990)</a> found secondary amyloidosis in a 12-year-old girl with GSD Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2785037+2311631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies of 5 patients with GSD Ib, <a href="#15" class="mim-tip-reference" title="Kuijpers, T. W., Maianski, N. A., Tool, A. T. J., Smit, P. A., Rake, J. P., Roos, D., Visser, G. &lt;strong&gt;Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).&lt;/strong&gt; Blood 101: 5021-5024, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12576310/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12576310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2002-10-3128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12576310">Kuijpers et al. (2003)</a> found neutrophils in the circulation that showed signs of apoptosis with increased caspase activity, condensed nuclei, and perinuclear clustering of mitochondria to which the proapoptotic BCL2 member BAX (<a href="/entry/600040">600040</a>) had translocated already. Granulocyte colony-stimulating factor (GCSF; <a href="/entry/138970">138970</a>) added to in vitro cultures did not rescue the GSD Ib neutrophils from apoptosis as occurred with GCSF-treated control neutrophils. Moreover, the 2 GSD Ib patients on GCSF treatment did not show significantly lower levels of apoptotic neutrophils in the bloodstream. <a href="#15" class="mim-tip-reference" title="Kuijpers, T. W., Maianski, N. A., Tool, A. T. J., Smit, P. A., Rake, J. P., Roos, D., Visser, G. &lt;strong&gt;Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).&lt;/strong&gt; Blood 101: 5021-5024, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12576310/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12576310&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2002-10-3128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12576310">Kuijpers et al. (2003)</a> studied neutrophils from children with infections (active pneumonia or septicemia) or with other neutropenic syndromes (Shwachman-Diamond syndrome; <a href="/entry/260400">260400</a>), but to date had not observed circulating apoptotic neutrophils in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12576310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Sarajlija, A., Djordjevic, M., Kecman, B., Skakic, A., Pavlovic, S., Pasic, S., Stojiljkovic, M. &lt;strong&gt;Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Med. Genet. 63: 103767, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31536830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31536830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2019.103767&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31536830">Sarajlija et al. (2020)</a> reported clinical features in 33 Serbian patients, including 2 sib pairs, aged 2 to 33.5 years. Initial signs and symptoms of disease began at a median age of 6 months (range, 1-18 months) and the median age at diagnosis was 12 months. Neutropenia was seen in all 33 patients, whereas severe neutropenia was seen in 20 patients. The median age of presentation of neutropenia was 24 months (range, 2 months to 13 years). G-CSF was used in 10 patients, for a median duration of therapy of 2.5 years. A reduction in severe bacterial infections was seen in all patients who received G-CSF. Inflammatory bowel disease was diagnosed in 8 patients with a median age of onset of 7 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31536830" 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="#2" class="mim-tip-reference" title="Annabi, B., Hiraiwa, H., Mansfield, B. C., Lei, K.-J., Ubagai, T., Polymeropoulos, M. H., Moses, S. W., Parvari, R., Hershkovitz, E., Mandel, H., Fryman, M., Chou, J. Y. &lt;strong&gt;The gene for glycogen-storage disease type 1b maps to chromosome 11q23.&lt;/strong&gt; Am. J. Hum. Genet. 62: 400-405, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463334/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463334&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301727&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463334">Annabi et al. (1998)</a> reported linkage of the GSD Ib locus to genetic markers spanning a 3-cM region on 11q23. The region is located between D11S939 centromerically and D11S4129 telomerically and includes the IL10R (<a href="/entry/146933">146933</a>), ATP1G1 (<a href="/entry/601814">601814</a>), and ALL1 (<a href="/entry/159555">159555</a>) genes. The authors studied 8 consanguineous families and 1 nonconsanguineous family of various ethnic origins. The assignment to chromosome 11 was confirmed by <a href="#17" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. &lt;strong&gt;Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9675154/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9675154&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/bbrc.1998.8985&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9675154">Kure et al. (1998)</a>, who showed that the translocase gene that is mutated in this disorder maps to chromosome 11 by study of somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9675154+9463334" 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 id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Pathogenesis</strong>
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<p><a href="#33" class="mim-tip-reference" title="Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E. &lt;strong&gt;Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.&lt;/strong&gt; Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30626647/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30626647&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.1816143116&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30626647">Veiga-da-Cunha et al. (2019)</a> found that granulocytes from patients deficient in G6PC3 (<a href="/entry/611045">611045</a>) or G6PT (SLC37A4) accumulate 1,5-anhydroglucitol-6-phosphate (1,5AG6P), made by phosphorylation of 1,5-anhydroglucitol (1,5AG), to concentrations that strongly inhibit hexokinase activity. In a model of G6PC3-deficient mouse neutrophils, physiologic concentrations of 1,5AG caused massive accumulation of 1,5AG6P, a decrease in glucose utilization, and cell death. Treating G6PC3-deficient mice with an inhibitor of the kidney glucose transporter SGLT2 (SLC5A2; <a href="/entry/182381">182381</a>) to lower their blood level of 1,5AG restored a normal neutrophil count, while administration of 1,5AG had the opposite effect. <a href="#33" class="mim-tip-reference" title="Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E. &lt;strong&gt;Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.&lt;/strong&gt; Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30626647/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30626647&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.1816143116&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30626647">Veiga-da-Cunha et al. (2019)</a> concluded that the neutropenia in patients with G6PC3 or G6PT mutations is a metabolite repair deficiency, caused by a failure to eliminate the nonclassical metabolite 1,5AG6P. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30626647" 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 id="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#28" class="mim-tip-reference" title="Schroten, H., Roesler, J., Breidenbach, T., Wendel, U., Elsner, J., Schweitzer, S., Zeidler, C., Burdach, S., Lohmann-Matthes, M.-L., Wahn, V., Welte, K. &lt;strong&gt;Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.&lt;/strong&gt; J. Pediat. 119: 748-754, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1719175/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1719175&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)80290-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1719175">Schroten et al. (1991)</a> used granulocyte colony-stimulating factor (CSF3; <a href="/entry/138970">138970</a>) to treat successfully the neutropenia in 2 patients with GSD Ib associated with recurrent bacterial infections. <a href="#22" class="mim-tip-reference" title="Roe, T. F., Coates, T. D., Thomas, D. W., Miller, J. H., Gilsanz, V. &lt;strong&gt;Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors.&lt;/strong&gt; New Eng. J. Med. 326: 1666-1669, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1375344/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1375344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199206183262504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1375344">Roe et al. (1992)</a> administered granulocyte-macrophage colony stimulating factor (CSF2; <a href="/entry/138960">138960</a>) to the 2 adolescent boys whom they had reported in 1986 (<a href="#23" class="mim-tip-reference" title="Roe, T. F., Thomas, D. W., Gilsanz, V., Isaacs, H., Jr., Atkinson, J. B. &lt;strong&gt;Inflammatory bowel disease in glycogen storage disease type Ib.&lt;/strong&gt; J. Pediat. 109: 55-59, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3459848/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3459848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(86)80572-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3459848">Roe et al., 1986</a>). They observed a prompt increase in neutrophil counts to normal, complete relief from abdominal symptoms, and an increase in appetite, energy, and weight, and a feeling of well being. There was radiologic evidence of bowel healing and a decrease in the erythrocyte sedimentation rate. Both patients remained free of oral and anal lesions over a period of 10 and 12 months of treatment. One patient was switched to G-CSF (CSF3) because of a presumed allergic reaction to GM-CSF. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1375344+3459848+1719175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 14 children (aged 4 to 16 years) with GSD Ia or GSD Ib, <a href="#19" class="mim-tip-reference" title="Lee, P. J., Dixon, M. A., Leonard, J. V. &lt;strong&gt;Uncooked cornstarch--efficacy in type I glycogenosis.&lt;/strong&gt; Arch. Dis. Child. 74: 546-547, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8758135/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8758135&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.74.6.546&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8758135">Lee et al. (1996)</a> found that the use of uncooked cornstarch loads resulted in satisfactory glycemia lasting only a median of 4.25 hours (range 2.5 to 6). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758135" 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>Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in GSD Ib. <a href="#33" class="mim-tip-reference" title="Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E. &lt;strong&gt;Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.&lt;/strong&gt; Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30626647/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30626647&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.1816143116&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30626647">Veiga-da-Cunha et al. (2019)</a> found that accumulating 1,5-anhydroglucitol-6-phosphate (1,5AG6P) caused neutropenia in a glucose-6-phosphatase 3 (G6PC3; <a href="/entry/611045">611045</a>)-deficient mouse model and in 2 rare diseases, GSD Ib and G6PC3 deficiency (see <a href="/entry/612541">612541</a>). The antidiabetic drug empagliflozin, an inhibitor of the renal glucose cotransporter sodium glucose cotransporter-2 (SGLT2; <a href="/entry/182381">182381</a>), reduces the concentration of 1,5AG6P in neutrophils by decreasing the concentration of 1,5AG, from which 1,5AG6P is made by enzymatic side reactions, in plasma. <a href="#34" class="mim-tip-reference" title="Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., Veiga-da-Cunha, M. &lt;strong&gt;Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.&lt;/strong&gt; Blood 136: 1033-1043, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32294159/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32294159&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32294159[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2019004465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32294159">Wortmann et al. (2020)</a> repurposed empagliflozin to treat neutropenia and neutrophil dysfunction in GSD Ib patients. Off-label use of empagliflozin in 4 GSD Ib patients with incomplete response to granulocyte colony-stimulating factor (GCSF) treatment decreased serum 1,5AG and neutrophil 1,5AG6P levels within 1 month. Clinically, symptoms of frequent infections, mucosal lesions, and inflammatory bowel disease resolved, and no symptomatic hypoglycemia was observed. GCSF could be discontinued in 2 patients and tapered by 57% and 81%, respectively, in the other 2. The fluctuating neutrophil numbers in all patients were increased and stabilized. <a href="#34" class="mim-tip-reference" title="Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., Veiga-da-Cunha, M. &lt;strong&gt;Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.&lt;/strong&gt; Blood 136: 1033-1043, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32294159/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32294159&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32294159[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2019004465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32294159">Wortmann et al. (2020)</a> further demonstrated improved neutrophil function: normal oxidative burst (in 3 of 3 patients tested), corrected protein glycosylation (2 of 2), and normal neutrophil chemotaxis (1 of 1), and bactericidal activity (1 of 1) under treatment. The improvement of clinical findings occurred without symptomatic hypoglycemia, which <a href="#34" class="mim-tip-reference" title="Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., Veiga-da-Cunha, M. &lt;strong&gt;Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.&lt;/strong&gt; Blood 136: 1033-1043, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32294159/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32294159&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32294159[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.2019004465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32294159">Wortmann et al. (2020)</a> ascribed to an improvement in neutrophil function resulting from the reduction of the intracellular concentration of 1,5AG6P. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=32294159+30626647" 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="Grunert, S. C., Elling, R., Maag, B., Wortmann, S. B., Derks, T. G. J., Hannibal, L., Schumann, A., Rosenbaum-Fabian, S., Spiekerkoetter, U. &lt;strong&gt;Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.&lt;/strong&gt; Orphanet J. Rare Dis. 15: 218, 2020. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32838757/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32838757&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32838757[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s13023-020-01503-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32838757">Grunert et al. (2020)</a> reported a 35-year-old female patient with GSD Ib who had been treated with GCSF for neutropenia since the age of 9. She had a large chronic abdominal wound as a consequence of recurrent operations due to complications of her inflammatory bowel disease. Treatment with 20 mg empagliflozin per day resulted in normalization of the neutrophil count and neutrophil function even after termination of GCSF. The chronic abdominal wound that had been unchanged for 2 years before the start of empagliflozin nearly closed within 12 weeks. No side effects were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32838757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Grunert, S. C., Derks, T. G. J., Mundy, H., Dalton, R. N., Donadieu, J., Hofbauer, P., Jones, N., Ucar, S. K., LaFreniere, J., Contreras, E. L., Pendyal, S., Rossi, A., Schneider, B., Spiegel, R., Stepien, K. M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S. B. &lt;strong&gt;Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop.&lt;/strong&gt; Molec. Genet. Metab. 141: 108144, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38277989/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38277989&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2024.108144&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38277989">Grunert et al. (2024)</a> published an international consensus statement on the use of empagliflozin for patients with GSD Ib. Its use was recommended for all patients with a genetic diagnosis. Due to a higher risk of hypoglycemia, inpatient initiation of empagliflozin with blood glucose monitoring was recommended for nonverbal children, patients with a short fasting glucose tolerance, and patients who chose to take empagliflozin before bedtime. Monitoring of 1,5-AG6P levels was recommended for patients on empagliflozin treatment. It was also recommended that other treatments for neutropenia, such as GCSF, be discontinued in clinically symptom-free individuals who were taking empagliflozin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38277989" 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 id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p><a href="#8" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. &lt;strong&gt;Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.&lt;/strong&gt; FEBS Lett. 419: 235-238, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9428641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9428641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0014-5793(97)01463-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9428641">Gerin et al. (1997)</a> confirmed autosomal recessive inheritance of Gsd Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In 2 female patients with GSD Ib, <a href="#8" class="mim-tip-reference" title="Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E. &lt;strong&gt;Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.&lt;/strong&gt; FEBS Lett. 419: 235-238, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9428641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9428641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0014-5793(97)01463-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9428641">Gerin et al. (1997)</a> found 2 point mutations in the glucose-6-phosphate translocase gene (<a href="/entry/602671#0001">602671.0001</a> and <a href="/entry/602671#0002">602671.0002</a>). <a href="#17" class="mim-tip-reference" title="Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K. &lt;strong&gt;Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 248: 426-431, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9675154/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9675154&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/bbrc.1998.8985&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9675154">Kure et al. (1998)</a> identified 3 additional mutations, one of which, W118R (<a href="/entry/602671#0003">602671.0003</a>), may be unusually frequent among Japanese patients with GSD Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9675154+9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Chou, J.Y., Mansfield, B.C. &lt;strong&gt;Molecular genetics of type 1 glycogen storage diseases.&lt;/strong&gt; Trends Endocr. Metab. 10: 104-113, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10322403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10322403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s1043-2760(98)00123-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10322403">Chou and Mansfield (1999)</a> reviewed the molecular genetics of type I glycogen storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10322403" 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="#16" class="mim-tip-reference" title="Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K. &lt;strong&gt;Glycogen storage disease type Ib without neutropenia.&lt;/strong&gt; J. Pediat. 137: 253-256, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10931421/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10931421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.107472&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10931421">Kure et al. (2000)</a> proposed that GSD Ib without neutropenia could be due to glucose-6-phosphate translocase mutations with residual transporter activity based on finding biallelic mutations with normal liver microsomal GTPase activity in 2 Japanese patients; see <a href="/entry/602671#0015">602671.0015</a> and <a href="/entry/602671#0016">602671.0016</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931421" 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 id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<p>In a study of 33 Serbian patients, including 2 sib pairs, with GSD1B, <a href="#25" class="mim-tip-reference" title="Sarajlija, A., Djordjevic, M., Kecman, B., Skakic, A., Pavlovic, S., Pasic, S., Stojiljkovic, M. &lt;strong&gt;Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Med. Genet. 63: 103767, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31536830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31536830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2019.103767&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31536830">Sarajlija et al. (2020)</a> found that 2 pairs of compound heterozygous mutations in the SLC37A4 gene were associated with an earlier onset for neutropenia: c.81T-A/c.785G-A and c.81T-A/c.1042_1043delCT. <a href="#25" class="mim-tip-reference" title="Sarajlija, A., Djordjevic, M., Kecman, B., Skakic, A., Pavlovic, S., Pasic, S., Stojiljkovic, M. &lt;strong&gt;Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Med. Genet. 63: 103767, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31536830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31536830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2019.103767&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31536830">Sarajlija et al. (2020)</a> also found that patients who were heterozygous for a c.785G-A mutation in the SLC37A4 gene had a higher capacity for increasing their absolute neutrophil count (ANC) during a severe bacterial infection (SBI) and patients who were homozygous for the c.1042_1043delCT mutation had the lowest capacity for ANC increase during SBI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31536830" 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 id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Buchino1983" class="mim-tip-reference" title="Buchino, J. J., Brown, B. I., Volk, D. M. &lt;strong&gt;Glycogen storage disease type Ib.&lt;/strong&gt; Arch. Path. Lab. Med. 107: 283-285, 1983.">Buchino et al. (1983)</a>; <a href="#Heyne1984" class="mim-tip-reference" title="Heyne, K., Hosenfeld, D., Grote, W., Schaub, J. &lt;strong&gt;Glycogen storage disease type Ib: familial bleeding tendency.&lt;/strong&gt; Europ. J. Pediat. 143: 7-9, 1984.">Heyne et al. (1984)</a>; <a href="#Kamoun1980" class="mim-tip-reference" title="Kamoun, P. P. &lt;strong&gt;Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?&lt;/strong&gt; Med. Hypotheses 6: 1135-1139, 1980.">Kamoun (1980)</a>; <a href="#Narisawa1986" class="mim-tip-reference" title="Narisawa, K., Ishizawa, S., Okumura, H., Tada, K., Kuzuya, T. &lt;strong&gt;Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.&lt;/strong&gt; J. Inherit. Metab. Dis. 9: 297-300, 1986.">Narisawa
et al. (1986)</a>; <a href="#Sann1980" class="mim-tip-reference" title="Sann, L., Mathieu, M., Bourgeous, J., Bienvenu, J., Bethenod, M. &lt;strong&gt;In vivo evidence for defective activity of glucose-6-phosphatase in type I B glycogenosis.&lt;/strong&gt; J. Pediat. 96: 691-694, 1980.">Sann et al. (1980)</a>; <a href="#Schaub1981" class="mim-tip-reference" title="Schaub, J., Bartholome, K., Feist, D., Schmidt, H. &lt;strong&gt;Glycogenosis type Ib: further evidence for a membrane disease. (Letter)&lt;/strong&gt; Europ. J. Pediat. 135: 325 only, 1981.">Schaub et al. (1981)</a>; <a href="#Schaub1983" class="mim-tip-reference" title="Schaub, J., Heyne, K. &lt;strong&gt;Glycogen storage disease type Ib.&lt;/strong&gt; Europ. J. Pediat. 140: 283-288, 1983.">Schaub and
Heyne (1983)</a>; <a href="#Seger1984" class="mim-tip-reference" title="Seger, R., Steinmann, B., Tiefenauer, L., Matsunaga, T., Gitzelmann, R. &lt;strong&gt;Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.&lt;/strong&gt; Pediat. Res. 18: 297-299, 1984.">Seger et al. (1984)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Ambruso1985" class="mim-anchor"></a>
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Ambruso, D. R., McCabe, E. R. B., Anderson, D., Beaudet, A., Ballas, L. M., Brandt, I. K., Brown, B., Coleman, R., Dunger, D. B., Falletta, J. M., Friedman, H. S., Haymond, M. W., Keating, J. P., Kinney, T. R., Leonard, J. V., Mahoney, D. H., Jr., Matalon, R., Roe, T. F., Simmons, P., Slonim, A. E.
<strong>Infectious and bleeding complications in patients with glycogenosis Ib.</strong>
Am. J. Dis. Child. 139: 691-697, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3860000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3860000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3860000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1985.02140090053027" target="_blank">Full Text</a>]
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<a id="Annabi1998" class="mim-anchor"></a>
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Annabi, B., Hiraiwa, H., Mansfield, B. C., Lei, K.-J., Ubagai, T., Polymeropoulos, M. H., Moses, S. W., Parvari, R., Hershkovitz, E., Mandel, H., Fryman, M., Chou, J. Y.
<strong>The gene for glycogen-storage disease type 1b maps to chromosome 11q23.</strong>
Am. J. Hum. Genet. 62: 400-405, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301727" target="_blank">Full Text</a>]
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<a id="Arion1975" class="mim-anchor"></a>
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Arion, W. J., Wallin, B. K., Lange, A. J., Ballas, L. M.
<strong>On the involvement of a glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphate.</strong>
Molec. Cell. Biochem. 6: 75-83, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/235736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">235736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=235736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01732001" target="_blank">Full Text</a>]
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</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Bashan1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bashan, N., Hagai, Y., Potashnik, R., Moses, S. W.
<strong>Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.</strong>
J. Clin. Invest. 81: 1317-1322, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3163346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI113457" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Buchino1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Buchino, J. J., Brown, B. I., Volk, D. M.
<strong>Glycogen storage disease type Ib.</strong>
Arch. Path. Lab. Med. 107: 283-285, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6303265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6303265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6303265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Chou1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chou, J.Y., Mansfield, B.C.
<strong>Molecular genetics of type 1 glycogen storage diseases.</strong>
Trends Endocr. Metab. 10: 104-113, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10322403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10322403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10322403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s1043-2760(98)00123-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Corbeel1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Corbeel, L., Boogaerts, M., Van den Berghe, G., Everaerts, M. C., Marchal, G., Eeckels, R.
<strong>Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.</strong>
Europ. J. Pediat. 140: 273-275, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6578929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6578929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6578929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00443375" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Gerin1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E.
<strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong>
FEBS Lett. 419: 235-238, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9428641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9428641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9428641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0014-5793(97)01463-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Grunert2024" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grunert, S. C., Derks, T. G. J., Mundy, H., Dalton, R. N., Donadieu, J., Hofbauer, P., Jones, N., Ucar, S. K., LaFreniere, J., Contreras, E. L., Pendyal, S., Rossi, A., Schneider, B., Spiegel, R., Stepien, K. M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S. B.
<strong>Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop.</strong>
Molec. Genet. Metab. 141: 108144, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38277989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38277989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38277989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2024.108144" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Grunert2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grunert, S. C., Elling, R., Maag, B., Wortmann, S. B., Derks, T. G. J., Hannibal, L., Schumann, A., Rosenbaum-Fabian, S., Spiekerkoetter, U.
<strong>Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.</strong>
Orphanet J. Rare Dis. 15: 218, 2020. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32838757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32838757</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32838757[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=32838757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/s13023-020-01503-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Heyne1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heyne, K., Henke-Wolter, J.
<strong>Glycogen storage disease Ib: modification of alpha-1-antitrypsin glycoprotein microheterogeneity.</strong>
Europ. J. Pediat. 148: 341-343, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2785037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2785037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2785037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00444130" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Heyne1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heyne, K., Hosenfeld, D., Grote, W., Schaub, J.
<strong>Glycogen storage disease type Ib: familial bleeding tendency.</strong>
Europ. J. Pediat. 143: 7-9, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6334607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6334607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6334607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442739" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Kamoun1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kamoun, P. P.
<strong>Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?</strong>
Med. Hypotheses 6: 1135-1139, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6256613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6256613</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6256613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0306-9877(80)90135-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Kikuchi1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kikuchi, M., Haginoya, K., Miyabayashi, S., Igarashi, Y., Narisawa, K., Tada, K.
<strong>Secondary amyloidosis in glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 149: 344-345, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2311631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2311631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2311631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF02171563" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Kuijpers2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kuijpers, T. W., Maianski, N. A., Tool, A. T. J., Smit, P. A., Rake, J. P., Roos, D., Visser, G.
<strong>Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).</strong>
Blood 101: 5021-5024, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12576310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12576310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12576310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood-2002-10-3128" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Kure2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K.
<strong>Glycogen storage disease type Ib without neutropenia.</strong>
J. Pediat. 137: 253-256, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1067/mpd.2000.107472" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Kure1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K.
<strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong>
Biochem. Biophys. Res. Commun. 248: 426-431, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9675154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9675154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9675154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/bbrc.1998.8985" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Kuzuya1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kuzuya, T., Matsuda, A., Yoshida, S., Narisawa, K., Tada, K., Saito, T., Matsushita, M.
<strong>An adult case of type Ib glycogen-storage disease: enzymatic and histochemical studies.</strong>
New Eng. J. Med. 308: 566-569, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6298622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6298622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6298622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198303103081004" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Lee1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lee, P. J., Dixon, M. A., Leonard, J. V.
<strong>Uncooked cornstarch--efficacy in type I glycogenosis.</strong>
Arch. Dis. Child. 74: 546-547, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8758135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8758135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.74.6.546" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Narisawa1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Narisawa, K., Igarashi, Y., Otomo, H., Tada, K.
<strong>A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.</strong>
Biochem. Biophys. Res. Commun. 83: 1360-1364, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/212064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">212064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=212064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0006-291x(78)91371-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Narisawa1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Narisawa, K., Ishizawa, S., Okumura, H., Tada, K., Kuzuya, T.
<strong>Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.</strong>
J. Inherit. Metab. Dis. 9: 297-300, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3025513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3025513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3025513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01799669" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Roe1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Roe, T. F., Coates, T. D., Thomas, D. W., Miller, J. H., Gilsanz, V.
<strong>Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors.</strong>
New Eng. J. Med. 326: 1666-1669, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1375344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1375344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1375344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199206183262504" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Roe1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Roe, T. F., Thomas, D. W., Gilsanz, V., Isaacs, H., Jr., Atkinson, J. B.
<strong>Inflammatory bowel disease in glycogen storage disease type Ib.</strong>
J. Pediat. 109: 55-59, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3459848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(86)80572-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Sann1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sann, L., Mathieu, M., Bourgeous, J., Bienvenu, J., Bethenod, M.
<strong>In vivo evidence for defective activity of glucose-6-phosphatase in type I B glycogenosis.</strong>
J. Pediat. 96: 691-694, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6244381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6244381</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6244381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(80)80744-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Sarajlija2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sarajlija, A., Djordjevic, M., Kecman, B., Skakic, A., Pavlovic, S., Pasic, S., Stojiljkovic, M.
<strong>Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.</strong>
Europ. J. Med. Genet. 63: 103767, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31536830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31536830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31536830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2019.103767" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Schaub1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schaub, J., Bartholome, K., Feist, D., Schmidt, H.
<strong>Glycogenosis type Ib: further evidence for a membrane disease. (Letter)</strong>
Europ. J. Pediat. 135: 325 only, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6939589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6939589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6939589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442112" target="_blank">Full Text</a>]
</p>
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<a id="27" class="mim-anchor"></a>
<a id="Schaub1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schaub, J., Heyne, K.
<strong>Glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 140: 283-288, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6313372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6313372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6313372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442664" target="_blank">Full Text</a>]
</p>
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<a id="28" class="mim-anchor"></a>
<a id="Schroten1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Schroten, H., Roesler, J., Breidenbach, T., Wendel, U., Elsner, J., Schweitzer, S., Zeidler, C., Burdach, S., Lohmann-Matthes, M.-L., Wahn, V., Welte, K.
<strong>Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.</strong>
J. Pediat. 119: 748-754, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1719175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(05)80290-2" target="_blank">Full Text</a>]
</p>
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<a id="29" class="mim-anchor"></a>
<a id="Seger1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seger, R., Steinmann, B., Tiefenauer, L., Matsunaga, T., Gitzelmann, R.
<strong>Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.</strong>
Pediat. Res. 18: 297-299, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6328404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6328404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6328404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-198403000-00019" target="_blank">Full Text</a>]
</p>
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<a id="30" class="mim-anchor"></a>
<a id="Senior1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Senior, B., Loridan, L.
<strong>Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.</strong>
New Eng. J. Med. 279: 965-970, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4300573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4300573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4300573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM196810312791803" target="_blank">Full Text</a>]
</p>
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<a id="31" class="mim-anchor"></a>
<a id="Talente1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I.
<strong>Glycogen storage disease in adults.</strong>
Ann. Intern. Med. 120: 218-226, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8273986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8273986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8273986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-120-3-199402010-00008" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
<a id="Ueno1986" class="mim-anchor"></a>
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<p class="mim-text-font">
Ueno, N., Tomita, M., Ariga, T., Ohkawa, M., Nagano, S., Takahashi, Y., Arashima, S., Matsumoto, S.
<strong>Impaired monocyte function in glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 145: 312-314, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3464427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3464427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3464427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00439409" target="_blank">Full Text</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Veiga-da-Cunha2019" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E.
<strong>Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.</strong>
Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30626647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30626647</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30626647[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=30626647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.1816143116" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
<a id="Wortmann2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., Veiga-da-Cunha, M.
<strong>Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.</strong>
Blood 136: 1033-1043, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32294159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32294159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32294159[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=32294159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood.2019004465" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
Hilary J. Vernon - updated : 02/23/2024
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Hilary J. Vernon - updated : 07/15/2022<br>Ada Hamosh - updated : 11/04/2020<br>Ada Hamosh - updated : 11/02/2020<br>Natalie E. Krasikov - updated : 3/4/2004<br>Victor A. McKusick - updated : 9/8/2003<br>John A. Phillips, III - updated : 9/29/2000<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Cynthia K. Ewing - updated : 5/8/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 05/23/2024
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carol : 02/23/2024<br>carol : 07/18/2022<br>carol : 07/15/2022<br>alopez : 11/04/2020<br>alopez : 11/02/2020<br>carol : 04/29/2020<br>alopez : 09/15/2016<br>alopez : 11/16/2015<br>carol : 5/8/2014<br>mcolton : 4/29/2014<br>carol : 2/15/2011<br>carol : 10/29/2008<br>carol : 3/18/2004<br>terry : 3/4/2004<br>carol : 3/1/2004<br>cwells : 9/9/2003<br>terry : 9/8/2003<br>cwells : 9/3/2003<br>terry : 9/2/2003<br>mgross : 10/3/2000<br>terry : 9/29/2000<br>terry : 6/11/1999<br>carol : 9/8/1998<br>alopez : 9/2/1998<br>alopez : 6/1/1998<br>alopez : 6/1/1998<br>psherman : 3/27/1998<br>terry : 3/26/1998<br>mark : 5/8/1997<br>mark : 5/8/1997<br>davew : 6/2/1994<br>carol : 5/31/1994<br>mimadm : 2/19/1994<br>carol : 7/15/1993<br>carol : 7/1/1992<br>carol : 6/30/1992
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<h3>
<span class="mim-font">
<strong>#</strong> 232220
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<span class="mim-font">
GLYCOGEN STORAGE DISEASE Ib; GSD1B
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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GSD Ib<br />
GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
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<strong>SNOMEDCT:</strong> 30102006; &nbsp;
<strong>ORPHA:</strong> 364, 79259; &nbsp;
<strong>DO:</strong> 0081330; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
11q23.3
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Glycogen storage disease Ib
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232220
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Autosomal recessive
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3
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SLC37A4
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<span class="mim-font">
602671
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that type Ib glycogen storage disease (GSD1B) is caused by homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4; 602671), which encodes glucose-6-phosphate translocase, on chromosome 11q23.</p>
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<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Senior and Loridan (1968) proposed the existence of a second type of von Gierke disease in which, although glucose-6-phosphatase (G6PC; 613742) activity is present on in vitro assay, glucose is not liberated from glucose-6-phosphate in vivo. They referred to this as 'functional deficiency of G6P.' They pointed out that some mutants in Neurospora show impaired enzyme function in the intact fungus despite normal activity in homogenates. </p><p>Arion et al. (1975) concluded that G6Pase activity requires 2 components of the microsomal membrane: (1) a glucose-6-phosphate specific transport system that shuttles G6P from the cytoplasm to the lumen of the endoplasmic reticulum (a G6P translocase), and (2) an enzyme, glucose-6-phosphate phosphohydrolase, bound to the luminal surface of the membrane. Narisawa et al. (1978) described a patient with GSD who appeared to have a defect in the transport system. In liver without detergent, enzyme activity was very low but normal activity was obtained by addition of detergent. </p><p>Kuzuya et al. (1983) reported a 25-year-old patient with GSD. Protuberant abdomen and diarrhea were noted at age 1 or 2 years, and short stature and hepatomegaly at age 4 years. At age 18, yellowish-red spots appeared on her legs and hypertension was detected. At age 20, she was 138 cm tall. Eruptive xanthoma and hyperlipidemia were present. Liver scintigraphy suggested the presence of adenomas. </p><p>Recurrent infections and neutropenia have been recognized as distinctive features of GSD Ib. Corbeel et al. (1983) provided a 6-year follow-up on the hematologic effects of termino-lateral portacaval anastomosis. Granulocyte counts returned to normal and recurrent infections ceased after the shunt. Platelet dysfunction, evident before surgery, was also corrected. Marked hypochromic anemia, probably caused by sequestration of iron in the spleen and resistant to therapy, was a persistent feature in this patient. The mechanism of the granulocyte defect in this disorder was discussed. </p><p>Roe et al. (1986) observed Crohn disease in 2 unrelated boys with GSD Ib. Their neutrophils showed severe chronic neutropenia and markedly deficient chemotactic response, whereas the leukocytes were normal in 4 patients with GSD Ia (232200). Thus, chronic inflammatory bowel disease (IBD; see 266600) appears to be an integral part of GSD Ib and the abnormality of leukocytes is probably involved in the pathogenesis of the IBD. </p><p>Oral lesions and perianal abscesses are common in this disorder (Ambruso et al., 1985). Ueno et al. (1986) found that neutrophils were defective in both motility and respiratory burst, whereas monocytes showed a defect only in respiratory burst. Bashan et al. (1988) showed that the rate of 2-deoxyglucose transport into GSD Ib polymorphonuclear leukocytes was 30% of that into cells of normal controls. Transport was normal in GSD Ib lymphocytes and in GSD Ia polymorphonuclear leukocytes and lymphocytes. The striking limitation of glucose transport across the cell membrane of polymorphonuclear leukocytes probably accounts for the impairment of leukocyte function that is characteristic of GSD Ib but not GSD Ia. </p><p>In a multicenter study in the United States and Canada, Talente et al. (1994) identified 5 patients with GSD type Ib who were 18 years of age or older. Severe recurrent bacterial infections and gingivitis were present. One patient, a 22-year-old college student, was described in detail. She had severe recurrent stomatitis, recurrent otitis media and externa, perianal and perirectal abscesses, and, at the age of 12 years, 2 brain abscesses due to Staphylococcus aureus. At 18 years of age, she was as tall as an 8-year-old and had not undergone any pubertal changes. </p><p>In a patient with GSD Ib, Heyne and Henke-Wolter (1989) found a change in the oligosaccharide side chains of the alpha-1-antitrypsin (107400) glycoprotein suggesting effects of the limited availability of glucose or glucose derivatives for the synthesis of N-glycosidic glycoproteins. Kikuchi et al. (1990) found secondary amyloidosis in a 12-year-old girl with GSD Ib. </p><p>In studies of 5 patients with GSD Ib, Kuijpers et al. (2003) found neutrophils in the circulation that showed signs of apoptosis with increased caspase activity, condensed nuclei, and perinuclear clustering of mitochondria to which the proapoptotic BCL2 member BAX (600040) had translocated already. Granulocyte colony-stimulating factor (GCSF; 138970) added to in vitro cultures did not rescue the GSD Ib neutrophils from apoptosis as occurred with GCSF-treated control neutrophils. Moreover, the 2 GSD Ib patients on GCSF treatment did not show significantly lower levels of apoptotic neutrophils in the bloodstream. Kuijpers et al. (2003) studied neutrophils from children with infections (active pneumonia or septicemia) or with other neutropenic syndromes (Shwachman-Diamond syndrome; 260400), but to date had not observed circulating apoptotic neutrophils in these patients. </p><p>Sarajlija et al. (2020) reported clinical features in 33 Serbian patients, including 2 sib pairs, aged 2 to 33.5 years. Initial signs and symptoms of disease began at a median age of 6 months (range, 1-18 months) and the median age at diagnosis was 12 months. Neutropenia was seen in all 33 patients, whereas severe neutropenia was seen in 20 patients. The median age of presentation of neutropenia was 24 months (range, 2 months to 13 years). G-CSF was used in 10 patients, for a median duration of therapy of 2.5 years. A reduction in severe bacterial infections was seen in all patients who received G-CSF. Inflammatory bowel disease was diagnosed in 8 patients with a median age of onset of 7 years. </p>
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<strong>Mapping</strong>
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<p>Annabi et al. (1998) reported linkage of the GSD Ib locus to genetic markers spanning a 3-cM region on 11q23. The region is located between D11S939 centromerically and D11S4129 telomerically and includes the IL10R (146933), ATP1G1 (601814), and ALL1 (159555) genes. The authors studied 8 consanguineous families and 1 nonconsanguineous family of various ethnic origins. The assignment to chromosome 11 was confirmed by Kure et al. (1998), who showed that the translocase gene that is mutated in this disorder maps to chromosome 11 by study of somatic cell hybrids. </p>
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<h4>
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<strong>Pathogenesis</strong>
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<p>Veiga-da-Cunha et al. (2019) found that granulocytes from patients deficient in G6PC3 (611045) or G6PT (SLC37A4) accumulate 1,5-anhydroglucitol-6-phosphate (1,5AG6P), made by phosphorylation of 1,5-anhydroglucitol (1,5AG), to concentrations that strongly inhibit hexokinase activity. In a model of G6PC3-deficient mouse neutrophils, physiologic concentrations of 1,5AG caused massive accumulation of 1,5AG6P, a decrease in glucose utilization, and cell death. Treating G6PC3-deficient mice with an inhibitor of the kidney glucose transporter SGLT2 (SLC5A2; 182381) to lower their blood level of 1,5AG restored a normal neutrophil count, while administration of 1,5AG had the opposite effect. Veiga-da-Cunha et al. (2019) concluded that the neutropenia in patients with G6PC3 or G6PT mutations is a metabolite repair deficiency, caused by a failure to eliminate the nonclassical metabolite 1,5AG6P. </p>
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<h4>
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<strong>Clinical Management</strong>
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</div>
<span class="mim-text-font">
<p>Schroten et al. (1991) used granulocyte colony-stimulating factor (CSF3; 138970) to treat successfully the neutropenia in 2 patients with GSD Ib associated with recurrent bacterial infections. Roe et al. (1992) administered granulocyte-macrophage colony stimulating factor (CSF2; 138960) to the 2 adolescent boys whom they had reported in 1986 (Roe et al., 1986). They observed a prompt increase in neutrophil counts to normal, complete relief from abdominal symptoms, and an increase in appetite, energy, and weight, and a feeling of well being. There was radiologic evidence of bowel healing and a decrease in the erythrocyte sedimentation rate. Both patients remained free of oral and anal lesions over a period of 10 and 12 months of treatment. One patient was switched to G-CSF (CSF3) because of a presumed allergic reaction to GM-CSF. </p><p>In 14 children (aged 4 to 16 years) with GSD Ia or GSD Ib, Lee et al. (1996) found that the use of uncooked cornstarch loads resulted in satisfactory glycemia lasting only a median of 4.25 hours (range 2.5 to 6). </p><p>Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in GSD Ib. Veiga-da-Cunha et al. (2019) found that accumulating 1,5-anhydroglucitol-6-phosphate (1,5AG6P) caused neutropenia in a glucose-6-phosphatase 3 (G6PC3; 611045)-deficient mouse model and in 2 rare diseases, GSD Ib and G6PC3 deficiency (see 612541). The antidiabetic drug empagliflozin, an inhibitor of the renal glucose cotransporter sodium glucose cotransporter-2 (SGLT2; 182381), reduces the concentration of 1,5AG6P in neutrophils by decreasing the concentration of 1,5AG, from which 1,5AG6P is made by enzymatic side reactions, in plasma. Wortmann et al. (2020) repurposed empagliflozin to treat neutropenia and neutrophil dysfunction in GSD Ib patients. Off-label use of empagliflozin in 4 GSD Ib patients with incomplete response to granulocyte colony-stimulating factor (GCSF) treatment decreased serum 1,5AG and neutrophil 1,5AG6P levels within 1 month. Clinically, symptoms of frequent infections, mucosal lesions, and inflammatory bowel disease resolved, and no symptomatic hypoglycemia was observed. GCSF could be discontinued in 2 patients and tapered by 57% and 81%, respectively, in the other 2. The fluctuating neutrophil numbers in all patients were increased and stabilized. Wortmann et al. (2020) further demonstrated improved neutrophil function: normal oxidative burst (in 3 of 3 patients tested), corrected protein glycosylation (2 of 2), and normal neutrophil chemotaxis (1 of 1), and bactericidal activity (1 of 1) under treatment. The improvement of clinical findings occurred without symptomatic hypoglycemia, which Wortmann et al. (2020) ascribed to an improvement in neutrophil function resulting from the reduction of the intracellular concentration of 1,5AG6P. </p><p>Grunert et al. (2020) reported a 35-year-old female patient with GSD Ib who had been treated with GCSF for neutropenia since the age of 9. She had a large chronic abdominal wound as a consequence of recurrent operations due to complications of her inflammatory bowel disease. Treatment with 20 mg empagliflozin per day resulted in normalization of the neutrophil count and neutrophil function even after termination of GCSF. The chronic abdominal wound that had been unchanged for 2 years before the start of empagliflozin nearly closed within 12 weeks. No side effects were observed. </p><p>Grunert et al. (2024) published an international consensus statement on the use of empagliflozin for patients with GSD Ib. Its use was recommended for all patients with a genetic diagnosis. Due to a higher risk of hypoglycemia, inpatient initiation of empagliflozin with blood glucose monitoring was recommended for nonverbal children, patients with a short fasting glucose tolerance, and patients who chose to take empagliflozin before bedtime. Monitoring of 1,5-AG6P levels was recommended for patients on empagliflozin treatment. It was also recommended that other treatments for neutropenia, such as GCSF, be discontinued in clinically symptom-free individuals who were taking empagliflozin. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gerin et al. (1997) confirmed autosomal recessive inheritance of Gsd Ib. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 female patients with GSD Ib, Gerin et al. (1997) found 2 point mutations in the glucose-6-phosphate translocase gene (602671.0001 and 602671.0002). Kure et al. (1998) identified 3 additional mutations, one of which, W118R (602671.0003), may be unusually frequent among Japanese patients with GSD Ib. </p><p>Chou and Mansfield (1999) reviewed the molecular genetics of type I glycogen storage diseases. </p><p>Kure et al. (2000) proposed that GSD Ib without neutropenia could be due to glucose-6-phosphate translocase mutations with residual transporter activity based on finding biallelic mutations with normal liver microsomal GTPase activity in 2 Japanese patients; see 602671.0015 and 602671.0016. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a study of 33 Serbian patients, including 2 sib pairs, with GSD1B, Sarajlija et al. (2020) found that 2 pairs of compound heterozygous mutations in the SLC37A4 gene were associated with an earlier onset for neutropenia: c.81T-A/c.785G-A and c.81T-A/c.1042_1043delCT. Sarajlija et al. (2020) also found that patients who were heterozygous for a c.785G-A mutation in the SLC37A4 gene had a higher capacity for increasing their absolute neutrophil count (ANC) during a severe bacterial infection (SBI) and patients who were homozygous for the c.1042_1043delCT mutation had the lowest capacity for ANC increase during SBI. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Buchino et al. (1983); Heyne et al. (1984); Kamoun (1980); Narisawa
et al. (1986); Sann et al. (1980); Schaub et al. (1981); Schaub and
Heyne (1983); Seger et al. (1984)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ambruso, D. R., McCabe, E. R. B., Anderson, D., Beaudet, A., Ballas, L. M., Brandt, I. K., Brown, B., Coleman, R., Dunger, D. B., Falletta, J. M., Friedman, H. S., Haymond, M. W., Keating, J. P., Kinney, T. R., Leonard, J. V., Mahoney, D. H., Jr., Matalon, R., Roe, T. F., Simmons, P., Slonim, A. E.
<strong>Infectious and bleeding complications in patients with glycogenosis Ib.</strong>
Am. J. Dis. Child. 139: 691-697, 1985.
[PubMed: 3860000]
[Full Text: https://doi.org/10.1001/archpedi.1985.02140090053027]
</p>
</li>
<li>
<p class="mim-text-font">
Annabi, B., Hiraiwa, H., Mansfield, B. C., Lei, K.-J., Ubagai, T., Polymeropoulos, M. H., Moses, S. W., Parvari, R., Hershkovitz, E., Mandel, H., Fryman, M., Chou, J. Y.
<strong>The gene for glycogen-storage disease type 1b maps to chromosome 11q23.</strong>
Am. J. Hum. Genet. 62: 400-405, 1998.
[PubMed: 9463334]
[Full Text: https://doi.org/10.1086/301727]
</p>
</li>
<li>
<p class="mim-text-font">
Arion, W. J., Wallin, B. K., Lange, A. J., Ballas, L. M.
<strong>On the involvement of a glucose-6-phosphate transport system in the function of microsomal glucose-6-phosphate.</strong>
Molec. Cell. Biochem. 6: 75-83, 1975.
[PubMed: 235736]
[Full Text: https://doi.org/10.1007/BF01732001]
</p>
</li>
<li>
<p class="mim-text-font">
Bashan, N., Hagai, Y., Potashnik, R., Moses, S. W.
<strong>Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.</strong>
J. Clin. Invest. 81: 1317-1322, 1988.
[PubMed: 3163346]
[Full Text: https://doi.org/10.1172/JCI113457]
</p>
</li>
<li>
<p class="mim-text-font">
Buchino, J. J., Brown, B. I., Volk, D. M.
<strong>Glycogen storage disease type Ib.</strong>
Arch. Path. Lab. Med. 107: 283-285, 1983.
[PubMed: 6303265]
</p>
</li>
<li>
<p class="mim-text-font">
Chou, J.Y., Mansfield, B.C.
<strong>Molecular genetics of type 1 glycogen storage diseases.</strong>
Trends Endocr. Metab. 10: 104-113, 1999.
[PubMed: 10322403]
[Full Text: https://doi.org/10.1016/s1043-2760(98)00123-4]
</p>
</li>
<li>
<p class="mim-text-font">
Corbeel, L., Boogaerts, M., Van den Berghe, G., Everaerts, M. C., Marchal, G., Eeckels, R.
<strong>Haematological findings in type Ib glycogen storage disease before and after portacaval shunt.</strong>
Europ. J. Pediat. 140: 273-275, 1983.
[PubMed: 6578929]
[Full Text: https://doi.org/10.1007/BF00443375]
</p>
</li>
<li>
<p class="mim-text-font">
Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., Van Schaftingen, E.
<strong>Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.</strong>
FEBS Lett. 419: 235-238, 1997.
[PubMed: 9428641]
[Full Text: https://doi.org/10.1016/s0014-5793(97)01463-4]
</p>
</li>
<li>
<p class="mim-text-font">
Grunert, S. C., Derks, T. G. J., Mundy, H., Dalton, R. N., Donadieu, J., Hofbauer, P., Jones, N., Ucar, S. K., LaFreniere, J., Contreras, E. L., Pendyal, S., Rossi, A., Schneider, B., Spiegel, R., Stepien, K. M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S. B.
<strong>Treatment recommendations for glycogen storage disease type IB-associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop.</strong>
Molec. Genet. Metab. 141: 108144, 2024.
[PubMed: 38277989]
[Full Text: https://doi.org/10.1016/j.ymgme.2024.108144]
</p>
</li>
<li>
<p class="mim-text-font">
Grunert, S. C., Elling, R., Maag, B., Wortmann, S. B., Derks, T. G. J., Hannibal, L., Schumann, A., Rosenbaum-Fabian, S., Spiekerkoetter, U.
<strong>Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.</strong>
Orphanet J. Rare Dis. 15: 218, 2020. Note: Electronic Article.
[PubMed: 32838757]
[Full Text: https://doi.org/10.1186/s13023-020-01503-8]
</p>
</li>
<li>
<p class="mim-text-font">
Heyne, K., Henke-Wolter, J.
<strong>Glycogen storage disease Ib: modification of alpha-1-antitrypsin glycoprotein microheterogeneity.</strong>
Europ. J. Pediat. 148: 341-343, 1989.
[PubMed: 2785037]
[Full Text: https://doi.org/10.1007/BF00444130]
</p>
</li>
<li>
<p class="mim-text-font">
Heyne, K., Hosenfeld, D., Grote, W., Schaub, J.
<strong>Glycogen storage disease type Ib: familial bleeding tendency.</strong>
Europ. J. Pediat. 143: 7-9, 1984.
[PubMed: 6334607]
[Full Text: https://doi.org/10.1007/BF00442739]
</p>
</li>
<li>
<p class="mim-text-font">
Kamoun, P. P.
<strong>Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?</strong>
Med. Hypotheses 6: 1135-1139, 1980.
[PubMed: 6256613]
[Full Text: https://doi.org/10.1016/0306-9877(80)90135-8]
</p>
</li>
<li>
<p class="mim-text-font">
Kikuchi, M., Haginoya, K., Miyabayashi, S., Igarashi, Y., Narisawa, K., Tada, K.
<strong>Secondary amyloidosis in glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 149: 344-345, 1990.
[PubMed: 2311631]
[Full Text: https://doi.org/10.1007/BF02171563]
</p>
</li>
<li>
<p class="mim-text-font">
Kuijpers, T. W., Maianski, N. A., Tool, A. T. J., Smit, P. A., Rake, J. P., Roos, D., Visser, G.
<strong>Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).</strong>
Blood 101: 5021-5024, 2003.
[PubMed: 12576310]
[Full Text: https://doi.org/10.1182/blood-2002-10-3128]
</p>
</li>
<li>
<p class="mim-text-font">
Kure, S., Hou, D.-C., Suzuki, Y., Yamagishi, A., Hiratsuka, M., Fukuda, T., Sugie, H., Kondo, N., Matsubara, Y., Narisawa, K.
<strong>Glycogen storage disease type Ib without neutropenia.</strong>
J. Pediat. 137: 253-256, 2000.
[PubMed: 10931421]
[Full Text: https://doi.org/10.1067/mpd.2000.107472]
</p>
</li>
<li>
<p class="mim-text-font">
Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., Narisawa, K.
<strong>Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.</strong>
Biochem. Biophys. Res. Commun. 248: 426-431, 1998.
[PubMed: 9675154]
[Full Text: https://doi.org/10.1006/bbrc.1998.8985]
</p>
</li>
<li>
<p class="mim-text-font">
Kuzuya, T., Matsuda, A., Yoshida, S., Narisawa, K., Tada, K., Saito, T., Matsushita, M.
<strong>An adult case of type Ib glycogen-storage disease: enzymatic and histochemical studies.</strong>
New Eng. J. Med. 308: 566-569, 1983.
[PubMed: 6298622]
[Full Text: https://doi.org/10.1056/NEJM198303103081004]
</p>
</li>
<li>
<p class="mim-text-font">
Lee, P. J., Dixon, M. A., Leonard, J. V.
<strong>Uncooked cornstarch--efficacy in type I glycogenosis.</strong>
Arch. Dis. Child. 74: 546-547, 1996.
[PubMed: 8758135]
[Full Text: https://doi.org/10.1136/adc.74.6.546]
</p>
</li>
<li>
<p class="mim-text-font">
Narisawa, K., Igarashi, Y., Otomo, H., Tada, K.
<strong>A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.</strong>
Biochem. Biophys. Res. Commun. 83: 1360-1364, 1978.
[PubMed: 212064]
[Full Text: https://doi.org/10.1016/0006-291x(78)91371-2]
</p>
</li>
<li>
<p class="mim-text-font">
Narisawa, K., Ishizawa, S., Okumura, H., Tada, K., Kuzuya, T.
<strong>Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b.</strong>
J. Inherit. Metab. Dis. 9: 297-300, 1986.
[PubMed: 3025513]
[Full Text: https://doi.org/10.1007/BF01799669]
</p>
</li>
<li>
<p class="mim-text-font">
Roe, T. F., Coates, T. D., Thomas, D. W., Miller, J. H., Gilsanz, V.
<strong>Treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors.</strong>
New Eng. J. Med. 326: 1666-1669, 1992.
[PubMed: 1375344]
[Full Text: https://doi.org/10.1056/NEJM199206183262504]
</p>
</li>
<li>
<p class="mim-text-font">
Roe, T. F., Thomas, D. W., Gilsanz, V., Isaacs, H., Jr., Atkinson, J. B.
<strong>Inflammatory bowel disease in glycogen storage disease type Ib.</strong>
J. Pediat. 109: 55-59, 1986.
[PubMed: 3459848]
[Full Text: https://doi.org/10.1016/s0022-3476(86)80572-8]
</p>
</li>
<li>
<p class="mim-text-font">
Sann, L., Mathieu, M., Bourgeous, J., Bienvenu, J., Bethenod, M.
<strong>In vivo evidence for defective activity of glucose-6-phosphatase in type I B glycogenosis.</strong>
J. Pediat. 96: 691-694, 1980.
[PubMed: 6244381]
[Full Text: https://doi.org/10.1016/s0022-3476(80)80744-x]
</p>
</li>
<li>
<p class="mim-text-font">
Sarajlija, A., Djordjevic, M., Kecman, B., Skakic, A., Pavlovic, S., Pasic, S., Stojiljkovic, M.
<strong>Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.</strong>
Europ. J. Med. Genet. 63: 103767, 2020.
[PubMed: 31536830]
[Full Text: https://doi.org/10.1016/j.ejmg.2019.103767]
</p>
</li>
<li>
<p class="mim-text-font">
Schaub, J., Bartholome, K., Feist, D., Schmidt, H.
<strong>Glycogenosis type Ib: further evidence for a membrane disease. (Letter)</strong>
Europ. J. Pediat. 135: 325 only, 1981.
[PubMed: 6939589]
[Full Text: https://doi.org/10.1007/BF00442112]
</p>
</li>
<li>
<p class="mim-text-font">
Schaub, J., Heyne, K.
<strong>Glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 140: 283-288, 1983.
[PubMed: 6313372]
[Full Text: https://doi.org/10.1007/BF00442664]
</p>
</li>
<li>
<p class="mim-text-font">
Schroten, H., Roesler, J., Breidenbach, T., Wendel, U., Elsner, J., Schweitzer, S., Zeidler, C., Burdach, S., Lohmann-Matthes, M.-L., Wahn, V., Welte, K.
<strong>Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.</strong>
J. Pediat. 119: 748-754, 1991.
[PubMed: 1719175]
[Full Text: https://doi.org/10.1016/s0022-3476(05)80290-2]
</p>
</li>
<li>
<p class="mim-text-font">
Seger, R., Steinmann, B., Tiefenauer, L., Matsunaga, T., Gitzelmann, R.
<strong>Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt.</strong>
Pediat. Res. 18: 297-299, 1984.
[PubMed: 6328404]
[Full Text: https://doi.org/10.1203/00006450-198403000-00019]
</p>
</li>
<li>
<p class="mim-text-font">
Senior, B., Loridan, L.
<strong>Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.</strong>
New Eng. J. Med. 279: 965-970, 1968.
[PubMed: 4300573]
[Full Text: https://doi.org/10.1056/NEJM196810312791803]
</p>
</li>
<li>
<p class="mim-text-font">
Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I.
<strong>Glycogen storage disease in adults.</strong>
Ann. Intern. Med. 120: 218-226, 1994.
[PubMed: 8273986]
[Full Text: https://doi.org/10.7326/0003-4819-120-3-199402010-00008]
</p>
</li>
<li>
<p class="mim-text-font">
Ueno, N., Tomita, M., Ariga, T., Ohkawa, M., Nagano, S., Takahashi, Y., Arashima, S., Matsumoto, S.
<strong>Impaired monocyte function in glycogen storage disease type Ib.</strong>
Europ. J. Pediat. 145: 312-314, 1986.
[PubMed: 3464427]
[Full Text: https://doi.org/10.1007/BF00439409]
</p>
</li>
<li>
<p class="mim-text-font">
Veiga-da-Cunha, M., Chevalier, N., Stephenne, X., Defour, J.-P., Paczia, N., Ferster, A., Achouri, Y., Dewulf, J. P., Linster, C. L., Bommer, G. T., Van Schaftingen, E.
<strong>Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.</strong>
Proc. Nat. Acad. Sci. 116: 1241-1250, 2019.
[PubMed: 30626647]
[Full Text: https://doi.org/10.1073/pnas.1816143116]
</p>
</li>
<li>
<p class="mim-text-font">
Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussoren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., Veiga-da-Cunha, M.
<strong>Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.</strong>
Blood 136: 1033-1043, 2020.
[PubMed: 32294159]
[Full Text: https://doi.org/10.1182/blood.2019004465]
</p>
</li>
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Contributors:
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<span class="mim-text-font">
Hilary J. Vernon - updated : 02/23/2024<br>Hilary J. Vernon - updated : 07/15/2022<br>Ada Hamosh - updated : 11/04/2020<br>Ada Hamosh - updated : 11/02/2020<br>Natalie E. Krasikov - updated : 3/4/2004<br>Victor A. McKusick - updated : 9/8/2003<br>John A. Phillips, III - updated : 9/29/2000<br>Victor A. McKusick - updated : 9/2/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Cynthia K. Ewing - updated : 5/8/1997
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Creation Date:
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<span class="mim-text-font">
Victor A. McKusick : 6/3/1986
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