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Entry
- #230900 - GAUCHER DISEASE, TYPE II; GD2
- OMIM
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<span class="h4">#230900</span>
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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/230900"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=GAUCHER DISEASE, TYPE II" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1269/" 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=355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Gaucher disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Gaucher disease type 2</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:0110958" 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/230900" 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://omia.org/results?search_type=advanced&omia_id=000405,002621" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0110958" 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:230900" 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> 12246008<br />
<strong>ORPHA:</strong> 355, 77260<br />
<strong>DO:</strong> 0110958<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>
230900
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GAUCHER DISEASE, TYPE II; GD2
</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">
GD II<br />
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
</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/1/1217?start=-3&limit=10&highlight=1217">
1q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Gaucher disease, type II
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/230900"> 230900 </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">
GBA1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606463"> 606463 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/230900" 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">
<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/230900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/230900" 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> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poor weight gain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36440009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36440009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231246</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Convergent squint <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a>, <a href="https://bioportal.bioontology.org/search?q=C4551734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Ocular paresis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856513</a>]</span><br /> -
Oculomotor apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193662007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405810005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405810005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C0271270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271270</a>, <a href="https://bioportal.bioontology.org/search?q=C3489733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</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">
- Trismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87866006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87866006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041105&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041105</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000211</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000211</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248583008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248583008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1023001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1023001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Laryngeal spasms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406444002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406444002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53787002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53787002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J38.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/478.75" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">478.75</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025425</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent aspiration pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/430969000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">430969000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002100</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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</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">
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
Uncoordinated swallowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856512</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Progressive neurologic deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span><br /> -
Psychomotor retardation, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854919</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011344</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span><br /> -
Bulbar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002483</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002483</a>]</span><br /> -
Retroflexion of the neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856508</a>]</span><br /> -
Hyperextension of the neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856509</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Rapidly progressive brainstem degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856510</a>]</span><br />
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<strong> HEMATOLOGY </strong>
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- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Decreased glucocerebrosidase activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746792</a>]</span><br /> -
Acid beta-glucosidase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62201009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62201009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/180485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">180485001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190794006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190794006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E75.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E75.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1961835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1961835</a>, <a href="https://bioportal.bioontology.org/search?q=C0017205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017205</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset between 3 and 6 months of age<br /> -
Death often by age 2 years<br /> -
See also perinatal lethal variant (<a href="/entry/608013">608013</a>), which is more severe<br /> -
See also Gaucher disease type III (<a href="/entry/231000">231000</a>), which is much less severe<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the acid beta-glucosidase gene (GBA, <a href="/entry/606463#0001">606463.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Gaucher disease type II (GD2) is caused by homozygous or compound heterozygous mutation in the gene encoding acid beta-glucosidase (GBA; <a href="/entry/606463">606463</a>) on chromosome 1q22.</p><p>Mutation in the same gene causes nonneuronopathic Gaucher disease type I (GD1; <a href="/entry/230800">230800</a>), subacute neuronopathic type III (GD3; <a href="/entry/231000">231000</a>), the rare GD3c subtype (<a href="/entry/231005">231005</a>), and the perinatal lethal variant (<a href="/entry/608013">608013</a>), which is often considered to be a severe form of type II.</p>
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<strong>Description</strong>
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<p>Type II Gaucher disease (GD2) is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (<a href="#14" class="mim-tip-reference" title="Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., Sidransky, E. &lt;strong&gt;Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.&lt;/strong&gt; Hum. Mutat. 15: 181-188, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10649495/&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;10649495&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200002)15:2&lt;181::AID-HUMU7&gt;3.0.CO;2-S&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="10649495">Stone et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649495" 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>Clinical Features</strong>
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<p><a href="#11" class="mim-tip-reference" title="Owada, M., Sakiyama, T., Kitagawa, T. &lt;strong&gt;Neuropathic Gaucher&#x27;s disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.&lt;/strong&gt; Pediat. Res. 11: 641-646, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/870871/&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;870871&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-197705000-00004&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="870871">Owada et al. (1977)</a> reported 3 Japanese patients with neuronopathic Gaucher disease. Glucocerebrosidase activity was almost normal in the liver, but markedly reduced in the spleen and fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=870871" 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="#12" class="mim-tip-reference" title="Saranjam, H., Chopra, S. S., Levy, H., Stubblefield, B. K., Maniwang, E., Cohen, I. J., Baris, H., Sidransky, E., Tayebi, N. &lt;strong&gt;A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.&lt;/strong&gt; Europ. J. Hum. Genet. 21: 115-117, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22713811/&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;22713811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2012.105&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="22713811">Saranjam et al. (2013)</a> reported 2 unrelated infants with severe, lethal type II Gaucher disease. The first was a girl of multiple ethnic descent who presented early in life with respiratory difficulties, poor feeding, failure to thrive, ophthalmoplegia, and developmental delay. Laboratory studies showed anemia and thrombocytopenia, and bone marrow biopsy revealed lipid-laden macrophages characteristic of Gaucher disease. A lysosomal enzyme panel showed severely decreased glucocerebrosidase activity. The patient died at 11 months of age. The second infant was a boy, born to an unrelated Ashkenazi Jewish father and a Sephardic Jewish mother. He was diagnosed at the age of 7 months after a bone marrow aspiration revealed Gaucher cells. The diagnosis was confirmed by deficient glucocerebrosidase activity, and he died at 10 months secondary to respiratory failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22713811" 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 clinical review of Gaucher disease, <a href="#2" class="mim-tip-reference" title="Daykin, E. C., Ryan, E., Sidransky, E. &lt;strong&gt;Diagnosing neuronopathic Gaucher disease: new considerations and challenges in assigning Gaucher phenotypes.&lt;/strong&gt; Molec. Genet. Metab. 132: 49-58, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33483255/&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;33483255&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2021.01.002&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="33483255">Daykin et al. (2021)</a> noted that GD2 may present prenatally with hydrops fetalis, in the newborn period, or later in the first year of life. In the newborn period, patients may present with congenital ichthyosis, hepatosplenomegaly, biliary atresia, facial dysmorphology, arthrogryposis, congenital thrombocytopenia, and/or growth abnormalities. The ichthyosis may result from increased glucosylceramide in the stratum corneum, which leads to abnormal histologic appearance of the skin on microscopic examination. Patients presenting later in the infantile period may show failure to thrive, swallowing abnormalities, seizures, developmental delay, and/or abnormal eye movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33483255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
Although patients with Gaucher disease type II typically have acute neurologic progression and those with type III have slow progression, <a href="#6" class="mim-tip-reference" title="Goker-Alpan, O., Schiffmann, R., Park, J. K., Stubblefield, B. K., Tayebi, N., Sidransky, E. &lt;strong&gt;Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.&lt;/strong&gt; J. Pediat. 143: 273-276, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12970647/&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;12970647&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/S0022-3476(03)00302-0&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="12970647">Goker-Alpan et al. (2003)</a> described 9 children with an intermediate phenotype of delayed age of onset, rapid progression of neurologic disease with refractory seizures, and oculomotor abnormalities. Based on the clinical presentation along with the detected genotypic heterogeneity found by identification of all 18 alleles, <a href="#6" class="mim-tip-reference" title="Goker-Alpan, O., Schiffmann, R., Park, J. K., Stubblefield, B. K., Tayebi, N., Sidransky, E. &lt;strong&gt;Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.&lt;/strong&gt; J. Pediat. 143: 273-276, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12970647/&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;12970647&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/S0022-3476(03)00302-0&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="12970647">Goker-Alpan et al. (2003)</a> concluded that neuronopathic Gaucher disease is more likely to be a continuum of phenotypes from the severe perinatal cases to mild involvement with oculomotor problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A., Di Rocco, M. &lt;strong&gt;Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 134A: 95-96, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15690354/&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;15690354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30316&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="15690354">Filocamo et al. (2005)</a> reported a 25-month-old girl with an atypical form of neuronopathic Gaucher disease between types II and III caused by a homozygous double mutation in the GBA gene (<a href="/entry/606463#0047">606463.0047</a>). Onset of symptoms occurred at age 5 months with hepatosplenomegaly. A few months later, she developed neurologic features, including spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. At age 25 months, she showed slow symptom progression and was able to sit alone, walk with support, and pronounce some words. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690354" 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>Biochemical Features</strong>
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<p><a href="#15" class="mim-tip-reference" title="Svennerholm, L., Mansson, J.-E., Rosengren, B. &lt;strong&gt;Cerebroside-beta-glucosidase activity in Gaucher brain.&lt;/strong&gt; Clin. Genet. 30: 131-135, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3757304/&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;3757304&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb00582.x&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="3757304">Svennerholm et al. (1986)</a> found an average residual activity of beta-glucosidase in forebrain tissue from 3 patients with the infantile type of Gaucher disease to be 5%, compared to 12% in 6 patients with Gaucher disease type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3757304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Beutler, E., Kuhl, W. &lt;strong&gt;Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 83: 7472-7474, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3463977/&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;3463977&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.83.19.7472&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="3463977">Beutler and Kuhl (1986)</a> studied processing of glucocerebrosidase in the 3 types of Gaucher disease. Normal cells initially formed a 60-kD polypeptide antigen that was gradually replaced by a broad band of antigen averaging 63 kD, which they thought represented the mature enzyme. While processing in 6 unrelated patients with Gaucher disease type I and in 1 patient with type III was similar to normal, 3 patients with the severe infantile form (type II) showed an unstable enzyme. The 60-kD band appeared only transiently and the mature 63-kD band was never seen. The authors concluded that an unstable precursor characterizes type II Gaucher disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3463977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gornati, R., Berra, B., Montorfano, G., Martini, C., Ciana, G., Ferrari, P., Romano, M., Bembi, B. &lt;strong&gt;Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.&lt;/strong&gt; J. Inherit. Metab. Dis. 25: 47-55, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11999980/&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;11999980&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1015137917508&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="11999980">Gornati et al. (2002)</a> examined the lipid composition of the liver, spleen, brain, cerebellum, and cerebrospinal fluid of a type II Gaucher patient who died at age 5 months. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the cerebellum and cerebrospinal fluid, with a prevalence of glucosylceramide. A relative reduction in gangliosides was observed in all analyzed tissue, with a relative increase in ganglioside GD3 in the nervous tissue. The fatty acid composition of glucosylceramide showed a prevalence of stearic acid in the central nervous system, while in the peripheral tissues palmitic acid was prevalent. <a href="#7" class="mim-tip-reference" title="Gornati, R., Berra, B., Montorfano, G., Martini, C., Ciana, G., Ferrari, P., Romano, M., Bembi, B. &lt;strong&gt;Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.&lt;/strong&gt; J. Inherit. Metab. Dis. 25: 47-55, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11999980/&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;11999980&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1015137917508&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="11999980">Gornati et al. (2002)</a> suggested that their results indicated a different origin of the glucosylceramide stored in different tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11999980" 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="Holleran, W. M., Ziegler, S. G., Goker-Alpan, O., Eblan, M. J., Elias, P. M., Schiffmann, R., Sidransky, E. &lt;strong&gt;Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. (Letter)&lt;/strong&gt; Clin. Genet. 69: 355-357, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16630170/&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;16630170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00589.x&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="16630170">Holleran et al. (2006)</a> reported an infant with type II Gaucher disease in whom ultrastructural abnormalities in the skin were identified prior to development of the more typical neurologic manifestations of the disease. At 5 weeks of age, his neurologic examination and skin appearance were described as normal. A skin biopsy performed at age 9 weeks showed disorganized lamellar membranes within the stratum corneum interspersed with amorphous nonlamellar microclefts presumably resulting from pockets of accumulated hydrophilic glucosylceramide, consistent with an epidermal lipid processing defect. The infant developed more severe neurologic complications by age 6 months. <a href="#9" class="mim-tip-reference" title="Holleran, W. M., Ziegler, S. G., Goker-Alpan, O., Eblan, M. J., Elias, P. M., Schiffmann, R., Sidransky, E. &lt;strong&gt;Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. (Letter)&lt;/strong&gt; Clin. Genet. 69: 355-357, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16630170/&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;16630170&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00589.x&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="16630170">Holleran et al. (2006)</a> noted that these skin abnormalities have been described only in patients with type II Gaucher disease and thus can be used for early discrimination among the several forms of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16630170" 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>Type II Gaucher disease shows autosomal recessive inheritance. <a href="#12" class="mim-tip-reference" title="Saranjam, H., Chopra, S. S., Levy, H., Stubblefield, B. K., Maniwang, E., Cohen, I. J., Baris, H., Sidransky, E., Tayebi, N. &lt;strong&gt;A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.&lt;/strong&gt; Europ. J. Hum. Genet. 21: 115-117, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22713811/&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;22713811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2012.105&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="22713811">Saranjam et al. (2013)</a> reported 2 unrelated infants with severe, lethal type II Gaucher disease who were compound heterozygous for 2 mutations in the GBA gene, one of which was L444P (<a href="/entry/606463#0001">606463.0001</a>). While the other mutation was identified in the paternal line of each patient (see, e.g., T323I, <a href="/entry/606463#0017">606463.0017</a>), the L444P allele was not detected in DNA samples from either patient's mother, suggesting that it occurred either as a result of germline mosaicism or as a de novo mutation in 1 ovum that took place during cell division. The findings had implications for genetic counseling, in that even if only 1 parent is found to be a carrier for a recessive disorder, the chance of having an affected child may not be zero. <a href="#12" class="mim-tip-reference" title="Saranjam, H., Chopra, S. S., Levy, H., Stubblefield, B. K., Maniwang, E., Cohen, I. J., Baris, H., Sidransky, E., Tayebi, N. &lt;strong&gt;A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.&lt;/strong&gt; Europ. J. Hum. Genet. 21: 115-117, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22713811/&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;22713811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2012.105&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="22713811">Saranjam et al. (2013)</a> noted that the L444P change occurs at a known mutational hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22713811" 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="#17" class="mim-tip-reference" title="Vellodi, A., Bembi, B., de Villemeur, T. B., Collin-Histed, T., Erikson, A., Mengel, E., Rolfs, A., Tylki-Szymanska, A. &lt;strong&gt;Management of neuronopathic Gaucher disease: a European consensus.&lt;/strong&gt; J. Inherit. Metab. Dis. 24: 319-327, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11486896/&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;11486896&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1010514614570&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="11486896">Vellodi et al. (2001)</a> reported a European consensus on the management of Gaucher disease. They recommended enzyme replacement therapy (ERT) with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement in nonneuronopathic as well as neuronopathic Gaucher disease, enhancing the quality of life. There was also evidence that enzyme replacement therapy reversed, stabilized, or slowed the progression of neurologic involvement in some patients. In patients with established acute neuronopathic disease, enzyme replacement therapy had little effect on the progressively downhill course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11486896" 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="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#16" class="mim-tip-reference" title="Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., Ginns, E. I. &lt;strong&gt;A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher&#x27;s disease.&lt;/strong&gt; New Eng. J. Med. 316: 570-575, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2880291/&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;2880291&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198703053161002&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="2880291">Tsuji et al. (1987)</a> identified a homozygous mutation in the GBA gene (L444P; <a href="/entry/606463#0001">606463.0001</a>) in patients with Gaucher disease type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Wigderson, M., Firon, N., Horowitz, Z., Wilder, S., Frishberg, Y., Reiner, O., Horowitz, M. &lt;strong&gt;Characterization of mutations in Gaucher patients by cDNA cloning.&lt;/strong&gt; Am. J. Hum. Genet. 44: 365-377, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2464926/&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;2464926&lt;/a&gt;]" pmid="2464926">Wigderson et al. (1989)</a> reported a patient with type II disease who was compound heterozygous for 2 mutations in the GBA gene: L444P and P415R (<a href="/entry/606463#0002">606463.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2464926" 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="#8" class="mim-tip-reference" title="Grace, M. E., Smith, F., Latham, T., Horowitz, M., Berg, A., Grabowski, G. A. &lt;strong&gt;Gaucher disease: a molecular basis for the type 2 and type 3 phenotypes. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A156 only, 1990."None>Grace et al. (1990)</a> used site-directed mutagenesis and characterization of the expressed mutant beta-glucosidase to understand the molecular basis of the phenotypic variation between type II and type III Gaucher disease. The results suggested that the presence of at least 1 nonfunctional GBA allele in type II patients may provide a molecular basis for the distinct phenotypes between types II and III.</p><p><a href="#14" class="mim-tip-reference" title="Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., Sidransky, E. &lt;strong&gt;Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.&lt;/strong&gt; Hum. Mutat. 15: 181-188, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10649495/&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;10649495&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200002)15:2&lt;181::AID-HUMU7&gt;3.0.CO;2-S&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="10649495">Stone et al. (2000)</a> identified mutations in the GBA gene in 17 unrelated patients with type II Gaucher disease with onset ranging from 3 to 12 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649495" 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>Population Genetics</strong>
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<p><a href="#10" class="mim-tip-reference" title="Koto, Y., Sakai, N., Lee, Y., Kakee, N., Matsuda, J., Tsuboi, K., Shimozawa, N., Okuyama, T., Nakamura, K., Narita, A., kobayashi, H., Uehara, R., Nakamura, Y., Kato, K., Eto, Y. &lt;strong&gt;Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan.&lt;/strong&gt; Molec. Genet. Metab. 133: 277-288, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34090759/&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;34090759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2021.05.004&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="34090759">Koto et al. (2021)</a> surveyed hospitals in Japan about patients with lysosomal storage diseases (LSDs) treated between 2013-2016 and 2018-2019. Sixty-nine individuals with Gaucher disease were identified, of whom 37.7% had GD type I, 23.2% had GD type II, 30.4% had GD type III, and 8.7% had an unknown type. <a href="#10" class="mim-tip-reference" title="Koto, Y., Sakai, N., Lee, Y., Kakee, N., Matsuda, J., Tsuboi, K., Shimozawa, N., Okuyama, T., Nakamura, K., Narita, A., kobayashi, H., Uehara, R., Nakamura, Y., Kato, K., Eto, Y. &lt;strong&gt;Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan.&lt;/strong&gt; Molec. Genet. Metab. 133: 277-288, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34090759/&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;34090759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2021.05.004&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="34090759">Koto et al. (2021)</a> noted that the high prevalence of GD type II was a feature that was characteristic of Japan. <a href="#10" class="mim-tip-reference" title="Koto, Y., Sakai, N., Lee, Y., Kakee, N., Matsuda, J., Tsuboi, K., Shimozawa, N., Okuyama, T., Nakamura, K., Narita, A., kobayashi, H., Uehara, R., Nakamura, Y., Kato, K., Eto, Y. &lt;strong&gt;Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan.&lt;/strong&gt; Molec. Genet. Metab. 133: 277-288, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34090759/&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;34090759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2021.05.004&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="34090759">Koto et al. (2021)</a> calculated a birth prevalence of Gaucher disease in Japan of 0.19 per 100,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34090759" 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="#19" class="mim-tip-reference" title="Wei, H., Kim, S. J., Zhang, Z., Tsai, P. C., Wisniewski, K. E., Mukherjee, A. B. &lt;strong&gt;ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.&lt;/strong&gt; Hum. Molec. Genet. 17: 469-477, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17989065/&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;17989065&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm324&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="17989065">Wei et al. (2008)</a> proposed that activation of the unfolded protein response (UPR) may be a common mediator of apoptosis in neuronopathic lysosomal storage diseases (LSDs), such as Gaucher disease type II. <a href="#4" class="mim-tip-reference" title="Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Enquist, I. B., Karlsson, S., Futerman, A. H. &lt;strong&gt;No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.&lt;/strong&gt; Hum. Molec. Genet. 18: 1482-1488, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19193629/&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;19193629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp061&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="19193629">Farfel-Becker et al. (2009)</a> examined whether the UPR is activated in neuronal forms of GD using a selection of neuronal disease models and a combination of Western blotting and semiquantitative and quantitative real-time PCR analysis. There were no changes in either protein or mRNA levels of a number of typical UPR markers including BiP (HSPA5; <a href="/entry/138120">138120</a>), CHOP (DDIT3; <a href="/entry/126337">126337</a>), XBP1 (<a href="/entry/194355">194355</a>), HERP (HERPUD1; <a href="/entry/608070">608070</a>), and GRP58 (PDIA3; <a href="/entry/602046">602046</a>), in either cultured Gaucher neurons or astrocytes, or in brain regions from mouse models, even at late symptomatic stages. <a href="#4" class="mim-tip-reference" title="Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Enquist, I. B., Karlsson, S., Futerman, A. H. &lt;strong&gt;No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.&lt;/strong&gt; Hum. Molec. Genet. 18: 1482-1488, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19193629/&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;19193629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp061&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="19193629">Farfel-Becker et al. (2009)</a> concluded that the unfolded protein response is not necessarily a common mediator for apoptosis in all neurodegenerative lysosomal storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19193629+17989065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Enquist, I. B., Lo Bianco, C., Ooka, A., Nilsson, E., Mansson, J.-E., Ehinger, M., Richter, J., Brady, R. O., Kirik, D., Karlsson, S. &lt;strong&gt;Murine models of acute neuronopathic Gaucher disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 104: 17483-17488, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17954912/&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;17954912&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17954912[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.0708086104&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="17954912">Enquist et al. (2007)</a> generated transgenic mice with targeted disruption of the Gba gene, but low expression of the gene in skin to prevent early lethality. The mice showed a phenotype similar to the severe neuronopathic form of GD, including rapid motor dysfunction, seizures, and hyperextension of the neck associated with severe neurodegeneration and apoptotic neuronal cell death. Some neurons had large vacuoles indicating neuronal lipid accumulation. A second mouse model with Gba deficiency restricted to neural and glial cell progenitors demonstrated a similar neuropathology as the first mouse model, but with a delayed onset and slower disease progression. These findings indicated that Gba deficiency within microglial cells of hematopoietic origin is not the primary determinant of the CNS pathology, but may influence disease progression. The findings also showed that normal hematopoietic-derived microglial cells could not rescue the neurodegenerative phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17954912" 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 mouse model of neuronopathic GD in which glucocerebrosidase deficiency is limited to neural and glial progenitor cells (<a href="#3" class="mim-tip-reference" title="Enquist, I. B., Lo Bianco, C., Ooka, A., Nilsson, E., Mansson, J.-E., Ehinger, M., Richter, J., Brady, R. O., Kirik, D., Karlsson, S. &lt;strong&gt;Murine models of acute neuronopathic Gaucher disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 104: 17483-17488, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17954912/&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;17954912&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17954912[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.0708086104&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="17954912">Enquist et al., 2007</a>), <a href="#18" class="mim-tip-reference" title="Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Karlsson, S., Futerman, A. H. &lt;strong&gt;Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.&lt;/strong&gt; Hum. Molec. Genet. 19: 3583-3590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20616152/&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;20616152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddq273&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="20616152">Vitner et al. (2010)</a> showed significant changes in the levels and distribution of cathepsins in brain. Cathepsin mRNA expression, activity, and protein levels were significantly elevated, with the time course of the increase correlating with the progression of disease severity. Significant changes in cathepsin D (CTSD; <a href="/entry/116840">116840</a>) distribution in the brain were detected, with cathepsin D elevated in areas where neuronal loss, astrogliosis, and microgliosis were observed. Cathepsin D elevation was greatest in microglia and astrocytes, and also in neurons in a manner consistent with its release from the lysosome to the cytosol. Ibubrofen treatment significantly reduced cathepsin D mRNA levels in the cortex of these mice, and cathepsin levels were also altered in mouse models of other sphingolipidoses. <a href="#18" class="mim-tip-reference" title="Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Karlsson, S., Futerman, A. H. &lt;strong&gt;Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.&lt;/strong&gt; Hum. Molec. Genet. 19: 3583-3590, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20616152/&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;20616152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddq273&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="20616152">Vitner et al. (2010)</a> suggested the involvement of cathepsins in the neuropathology of neuronal forms of GD and of other lysosomal storage diseases, and hypothesized a crucial role for reactive microglia in neuronal degeneration in these diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20616152+17954912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Schneider1972" class="mim-tip-reference" title="Schneider, E. L., Ellis, W. G., Brady, R. O., McCulloch, J. R., Epstein, C. J. &lt;strong&gt;Infantile (type II) Gaucher&#x27;s disease: in utero diagnosis and fetal pathology.&lt;/strong&gt; J. Pediat. 81: 1134-1139, 1972.">Schneider et al. (1972)</a>
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<strong>REFERENCES</strong>
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</h4>
<div>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<li>
<a id="1" class="mim-anchor"></a>
<a id="Beutler1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beutler, E., Kuhl, W.
<strong>Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.</strong>
Proc. Nat. Acad. Sci. 83: 7472-7474, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3463977" 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.83.19.7472" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Daykin2021" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Daykin, E. C., Ryan, E., Sidransky, E.
<strong>Diagnosing neuronopathic Gaucher disease: new considerations and challenges in assigning Gaucher phenotypes.</strong>
Molec. Genet. Metab. 132: 49-58, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33483255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33483255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33483255" 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.2021.01.002" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Enquist2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Enquist, I. B., Lo Bianco, C., Ooka, A., Nilsson, E., Mansson, J.-E., Ehinger, M., Richter, J., Brady, R. O., Kirik, D., Karlsson, S.
<strong>Murine models of acute neuronopathic Gaucher disease.</strong>
Proc. Nat. Acad. Sci. 104: 17483-17488, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17954912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17954912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17954912[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=17954912" 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.0708086104" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Farfel-Becker2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Enquist, I. B., Karlsson, S., Futerman, A. H.
<strong>No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.</strong>
Hum. Molec. Genet. 18: 1482-1488, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19193629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19193629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19193629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddp061" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Filocamo2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A., Di Rocco, M.
<strong>Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. (Letter)</strong>
Am. J. Med. Genet. 134A: 95-96, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30316" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Goker-Alpan2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goker-Alpan, O., Schiffmann, R., Park, J. K., Stubblefield, B. K., Tayebi, N., Sidransky, E.
<strong>Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.</strong>
J. Pediat. 143: 273-276, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970647" 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/S0022-3476(03)00302-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Gornati2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gornati, R., Berra, B., Montorfano, G., Martini, C., Ciana, G., Ferrari, P., Romano, M., Bembi, B.
<strong>Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.</strong>
J. Inherit. Metab. Dis. 25: 47-55, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11999980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11999980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11999980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1023/a:1015137917508" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Grace1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grace, M. E., Smith, F., Latham, T., Horowitz, M., Berg, A., Grabowski, G. A.
<strong>Gaucher disease: a molecular basis for the type 2 and type 3 phenotypes. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A156 only, 1990.
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Holleran2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Holleran, W. M., Ziegler, S. G., Goker-Alpan, O., Eblan, M. J., Elias, P. M., Schiffmann, R., Sidransky, E.
<strong>Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. (Letter)</strong>
Clin. Genet. 69: 355-357, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16630170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16630170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16630170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2006.00589.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Koto2021" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koto, Y., Sakai, N., Lee, Y., Kakee, N., Matsuda, J., Tsuboi, K., Shimozawa, N., Okuyama, T., Nakamura, K., Narita, A., kobayashi, H., Uehara, R., Nakamura, Y., Kato, K., Eto, Y.
<strong>Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan.</strong>
Molec. Genet. Metab. 133: 277-288, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34090759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34090759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34090759" 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.2021.05.004" target="_blank">Full Text</a>]
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Owada1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Owada, M., Sakiyama, T., Kitagawa, T.
<strong>Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.</strong>
Pediat. Res. 11: 641-646, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/870871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">870871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=870871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-197705000-00004" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Saranjam2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saranjam, H., Chopra, S. S., Levy, H., Stubblefield, B. K., Maniwang, E., Cohen, I. J., Baris, H., Sidransky, E., Tayebi, N.
<strong>A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.</strong>
Europ. J. Hum. Genet. 21: 115-117, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22713811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22713811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22713811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ejhg.2012.105" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Schneider1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schneider, E. L., Ellis, W. G., Brady, R. O., McCulloch, J. R., Epstein, C. J.
<strong>Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology.</strong>
J. Pediat. 81: 1134-1139, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4674572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4674572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4674572" 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(72)80245-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Stone2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., Sidransky, E.
<strong>Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.</strong>
Hum. Mutat. 15: 181-188, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10649495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10649495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2&lt;181::AID-HUMU7&gt;3.0.CO;2-S" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Svennerholm1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Svennerholm, L., Mansson, J.-E., Rosengren, B.
<strong>Cerebroside-beta-glucosidase activity in Gaucher brain.</strong>
Clin. Genet. 30: 131-135, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3757304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3757304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3757304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00582.x" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Tsuji1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., Ginns, E. I.
<strong>A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.</strong>
New Eng. J. Med. 316: 570-575, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2880291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2880291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2880291" 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/NEJM198703053161002" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Vellodi2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vellodi, A., Bembi, B., de Villemeur, T. B., Collin-Histed, T., Erikson, A., Mengel, E., Rolfs, A., Tylki-Szymanska, A.
<strong>Management of neuronopathic Gaucher disease: a European consensus.</strong>
J. Inherit. Metab. Dis. 24: 319-327, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11486896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11486896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11486896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1023/a:1010514614570" target="_blank">Full Text</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Vitner2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Karlsson, S., Futerman, A. H.
<strong>Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.</strong>
Hum. Molec. Genet. 19: 3583-3590, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20616152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20616152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20616152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddq273" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="Wei2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wei, H., Kim, S. J., Zhang, Z., Tsai, P. C., Wisniewski, K. E., Mukherjee, A. B.
<strong>ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.</strong>
Hum. Molec. Genet. 17: 469-477, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17989065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17989065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17989065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddm324" target="_blank">Full Text</a>]
</p>
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<a id="20" class="mim-anchor"></a>
<a id="Wigderson1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wigderson, M., Firon, N., Horowitz, Z., Wilder, S., Frishberg, Y., Reiner, O., Horowitz, M.
<strong>Characterization of mutations in Gaucher patients by cDNA cloning.</strong>
Am. J. Hum. Genet. 44: 365-377, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2464926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2464926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2464926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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Hilary J. Vernon - updated : 09/13/2021
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Hilary J. Vernon - updated : 05/18/2021<br>George E. Tiller - updated : 06/22/2017<br>Cassandra L. Kniffin - updated : 4/22/2013<br>George E. Tiller - updated : 11/30/2009<br>Cassandra L. Kniffin - updated : 8/12/2008<br>Cassandra L. Kniffin - reorganized : 11/2/2006<br>Cassandra L. Kniffin - updated : 11/1/2006<br>Cassandra L. Kniffin - updated : 6/2/2006<br>Natalie E. Krasikov - updated : 3/12/2004<br>Ada Hamosh - updated : 9/22/2003<br>Ada Hamosh - updated : 8/29/2001<br>Victor A. McKusick - updated : 2/26/2001<br>Wilson H. Y. Lo - updated : 4/24/2000<br>Victor A. McKusick - updated : 2/23/2000
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Victor A. McKusick : 6/3/1986
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carol : 09/28/2021
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<strong>#</strong> 230900
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GAUCHER DISEASE, TYPE II; GD2
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<em>Alternative titles; symbols</em>
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GD II<br />
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
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<strong>SNOMEDCT:</strong> 12246008; &nbsp;
<strong>ORPHA:</strong> 355, 77260; &nbsp;
<strong>DO:</strong> 0110958; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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1q22
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Gaucher disease, type II
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230900
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Autosomal recessive
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3
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GBA1
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606463
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Gaucher disease type II (GD2) is caused by homozygous or compound heterozygous mutation in the gene encoding acid beta-glucosidase (GBA; 606463) on chromosome 1q22.</p><p>Mutation in the same gene causes nonneuronopathic Gaucher disease type I (GD1; 230800), subacute neuronopathic type III (GD3; 231000), the rare GD3c subtype (231005), and the perinatal lethal variant (608013), which is often considered to be a severe form of type II.</p>
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<strong>Description</strong>
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<p>Type II Gaucher disease (GD2) is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000). </p>
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<strong>Clinical Features</strong>
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<p>Owada et al. (1977) reported 3 Japanese patients with neuronopathic Gaucher disease. Glucocerebrosidase activity was almost normal in the liver, but markedly reduced in the spleen and fibroblasts. </p><p>Saranjam et al. (2013) reported 2 unrelated infants with severe, lethal type II Gaucher disease. The first was a girl of multiple ethnic descent who presented early in life with respiratory difficulties, poor feeding, failure to thrive, ophthalmoplegia, and developmental delay. Laboratory studies showed anemia and thrombocytopenia, and bone marrow biopsy revealed lipid-laden macrophages characteristic of Gaucher disease. A lysosomal enzyme panel showed severely decreased glucocerebrosidase activity. The patient died at 11 months of age. The second infant was a boy, born to an unrelated Ashkenazi Jewish father and a Sephardic Jewish mother. He was diagnosed at the age of 7 months after a bone marrow aspiration revealed Gaucher cells. The diagnosis was confirmed by deficient glucocerebrosidase activity, and he died at 10 months secondary to respiratory failure. </p><p>In a clinical review of Gaucher disease, Daykin et al. (2021) noted that GD2 may present prenatally with hydrops fetalis, in the newborn period, or later in the first year of life. In the newborn period, patients may present with congenital ichthyosis, hepatosplenomegaly, biliary atresia, facial dysmorphology, arthrogryposis, congenital thrombocytopenia, and/or growth abnormalities. The ichthyosis may result from increased glucosylceramide in the stratum corneum, which leads to abnormal histologic appearance of the skin on microscopic examination. Patients presenting later in the infantile period may show failure to thrive, swallowing abnormalities, seizures, developmental delay, and/or abnormal eye movements. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Although patients with Gaucher disease type II typically have acute neurologic progression and those with type III have slow progression, Goker-Alpan et al. (2003) described 9 children with an intermediate phenotype of delayed age of onset, rapid progression of neurologic disease with refractory seizures, and oculomotor abnormalities. Based on the clinical presentation along with the detected genotypic heterogeneity found by identification of all 18 alleles, Goker-Alpan et al. (2003) concluded that neuronopathic Gaucher disease is more likely to be a continuum of phenotypes from the severe perinatal cases to mild involvement with oculomotor problems. </p><p>Filocamo et al. (2005) reported a 25-month-old girl with an atypical form of neuronopathic Gaucher disease between types II and III caused by a homozygous double mutation in the GBA gene (606463.0047). Onset of symptoms occurred at age 5 months with hepatosplenomegaly. A few months later, she developed neurologic features, including spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. At age 25 months, she showed slow symptom progression and was able to sit alone, walk with support, and pronounce some words. </p>
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<strong>Biochemical Features</strong>
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<p>Svennerholm et al. (1986) found an average residual activity of beta-glucosidase in forebrain tissue from 3 patients with the infantile type of Gaucher disease to be 5%, compared to 12% in 6 patients with Gaucher disease type III. </p><p>Beutler and Kuhl (1986) studied processing of glucocerebrosidase in the 3 types of Gaucher disease. Normal cells initially formed a 60-kD polypeptide antigen that was gradually replaced by a broad band of antigen averaging 63 kD, which they thought represented the mature enzyme. While processing in 6 unrelated patients with Gaucher disease type I and in 1 patient with type III was similar to normal, 3 patients with the severe infantile form (type II) showed an unstable enzyme. The 60-kD band appeared only transiently and the mature 63-kD band was never seen. The authors concluded that an unstable precursor characterizes type II Gaucher disease. </p><p>Gornati et al. (2002) examined the lipid composition of the liver, spleen, brain, cerebellum, and cerebrospinal fluid of a type II Gaucher patient who died at age 5 months. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the cerebellum and cerebrospinal fluid, with a prevalence of glucosylceramide. A relative reduction in gangliosides was observed in all analyzed tissue, with a relative increase in ganglioside GD3 in the nervous tissue. The fatty acid composition of glucosylceramide showed a prevalence of stearic acid in the central nervous system, while in the peripheral tissues palmitic acid was prevalent. Gornati et al. (2002) suggested that their results indicated a different origin of the glucosylceramide stored in different tissues. </p><p>Holleran et al. (2006) reported an infant with type II Gaucher disease in whom ultrastructural abnormalities in the skin were identified prior to development of the more typical neurologic manifestations of the disease. At 5 weeks of age, his neurologic examination and skin appearance were described as normal. A skin biopsy performed at age 9 weeks showed disorganized lamellar membranes within the stratum corneum interspersed with amorphous nonlamellar microclefts presumably resulting from pockets of accumulated hydrophilic glucosylceramide, consistent with an epidermal lipid processing defect. The infant developed more severe neurologic complications by age 6 months. Holleran et al. (2006) noted that these skin abnormalities have been described only in patients with type II Gaucher disease and thus can be used for early discrimination among the several forms of the disorder. </p>
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<strong>Inheritance</strong>
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<p>Type II Gaucher disease shows autosomal recessive inheritance. Saranjam et al. (2013) reported 2 unrelated infants with severe, lethal type II Gaucher disease who were compound heterozygous for 2 mutations in the GBA gene, one of which was L444P (606463.0001). While the other mutation was identified in the paternal line of each patient (see, e.g., T323I, 606463.0017), the L444P allele was not detected in DNA samples from either patient's mother, suggesting that it occurred either as a result of germline mosaicism or as a de novo mutation in 1 ovum that took place during cell division. The findings had implications for genetic counseling, in that even if only 1 parent is found to be a carrier for a recessive disorder, the chance of having an affected child may not be zero. Saranjam et al. (2013) noted that the L444P change occurs at a known mutational hotspot. </p>
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<strong>Clinical Management</strong>
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<p>Vellodi et al. (2001) reported a European consensus on the management of Gaucher disease. They recommended enzyme replacement therapy (ERT) with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement in nonneuronopathic as well as neuronopathic Gaucher disease, enhancing the quality of life. There was also evidence that enzyme replacement therapy reversed, stabilized, or slowed the progression of neurologic involvement in some patients. In patients with established acute neuronopathic disease, enzyme replacement therapy had little effect on the progressively downhill course. </p>
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<strong>Molecular Genetics</strong>
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<p>Tsuji et al. (1987) identified a homozygous mutation in the GBA gene (L444P; 606463.0001) in patients with Gaucher disease type II. </p><p>Wigderson et al. (1989) reported a patient with type II disease who was compound heterozygous for 2 mutations in the GBA gene: L444P and P415R (606463.0002). </p><p>Grace et al. (1990) used site-directed mutagenesis and characterization of the expressed mutant beta-glucosidase to understand the molecular basis of the phenotypic variation between type II and type III Gaucher disease. The results suggested that the presence of at least 1 nonfunctional GBA allele in type II patients may provide a molecular basis for the distinct phenotypes between types II and III.</p><p>Stone et al. (2000) identified mutations in the GBA gene in 17 unrelated patients with type II Gaucher disease with onset ranging from 3 to 12 months of age. </p>
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<strong>Population Genetics</strong>
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<p>Koto et al. (2021) surveyed hospitals in Japan about patients with lysosomal storage diseases (LSDs) treated between 2013-2016 and 2018-2019. Sixty-nine individuals with Gaucher disease were identified, of whom 37.7% had GD type I, 23.2% had GD type II, 30.4% had GD type III, and 8.7% had an unknown type. Koto et al. (2021) noted that the high prevalence of GD type II was a feature that was characteristic of Japan. Koto et al. (2021) calculated a birth prevalence of Gaucher disease in Japan of 0.19 per 100,000. </p>
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<strong>Pathogenesis</strong>
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<p>Wei et al. (2008) proposed that activation of the unfolded protein response (UPR) may be a common mediator of apoptosis in neuronopathic lysosomal storage diseases (LSDs), such as Gaucher disease type II. Farfel-Becker et al. (2009) examined whether the UPR is activated in neuronal forms of GD using a selection of neuronal disease models and a combination of Western blotting and semiquantitative and quantitative real-time PCR analysis. There were no changes in either protein or mRNA levels of a number of typical UPR markers including BiP (HSPA5; 138120), CHOP (DDIT3; 126337), XBP1 (194355), HERP (HERPUD1; 608070), and GRP58 (PDIA3; 602046), in either cultured Gaucher neurons or astrocytes, or in brain regions from mouse models, even at late symptomatic stages. Farfel-Becker et al. (2009) concluded that the unfolded protein response is not necessarily a common mediator for apoptosis in all neurodegenerative lysosomal storage diseases. </p>
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<strong>Animal Model</strong>
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<p>Enquist et al. (2007) generated transgenic mice with targeted disruption of the Gba gene, but low expression of the gene in skin to prevent early lethality. The mice showed a phenotype similar to the severe neuronopathic form of GD, including rapid motor dysfunction, seizures, and hyperextension of the neck associated with severe neurodegeneration and apoptotic neuronal cell death. Some neurons had large vacuoles indicating neuronal lipid accumulation. A second mouse model with Gba deficiency restricted to neural and glial cell progenitors demonstrated a similar neuropathology as the first mouse model, but with a delayed onset and slower disease progression. These findings indicated that Gba deficiency within microglial cells of hematopoietic origin is not the primary determinant of the CNS pathology, but may influence disease progression. The findings also showed that normal hematopoietic-derived microglial cells could not rescue the neurodegenerative phenotype. </p><p>In a mouse model of neuronopathic GD in which glucocerebrosidase deficiency is limited to neural and glial progenitor cells (Enquist et al., 2007), Vitner et al. (2010) showed significant changes in the levels and distribution of cathepsins in brain. Cathepsin mRNA expression, activity, and protein levels were significantly elevated, with the time course of the increase correlating with the progression of disease severity. Significant changes in cathepsin D (CTSD; 116840) distribution in the brain were detected, with cathepsin D elevated in areas where neuronal loss, astrogliosis, and microgliosis were observed. Cathepsin D elevation was greatest in microglia and astrocytes, and also in neurons in a manner consistent with its release from the lysosome to the cytosol. Ibubrofen treatment significantly reduced cathepsin D mRNA levels in the cortex of these mice, and cathepsin levels were also altered in mouse models of other sphingolipidoses. Vitner et al. (2010) suggested the involvement of cathepsins in the neuropathology of neuronal forms of GD and of other lysosomal storage diseases, and hypothesized a crucial role for reactive microglia in neuronal degeneration in these diseases. </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
Schneider et al. (1972)
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<strong>REFERENCES</strong>
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<ol>
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<p class="mim-text-font">
Beutler, E., Kuhl, W.
<strong>Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.</strong>
Proc. Nat. Acad. Sci. 83: 7472-7474, 1986.
[PubMed: 3463977]
[Full Text: https://doi.org/10.1073/pnas.83.19.7472]
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<p class="mim-text-font">
Daykin, E. C., Ryan, E., Sidransky, E.
<strong>Diagnosing neuronopathic Gaucher disease: new considerations and challenges in assigning Gaucher phenotypes.</strong>
Molec. Genet. Metab. 132: 49-58, 2021.
[PubMed: 33483255]
[Full Text: https://doi.org/10.1016/j.ymgme.2021.01.002]
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<p class="mim-text-font">
Enquist, I. B., Lo Bianco, C., Ooka, A., Nilsson, E., Mansson, J.-E., Ehinger, M., Richter, J., Brady, R. O., Kirik, D., Karlsson, S.
<strong>Murine models of acute neuronopathic Gaucher disease.</strong>
Proc. Nat. Acad. Sci. 104: 17483-17488, 2007.
[PubMed: 17954912]
[Full Text: https://doi.org/10.1073/pnas.0708086104]
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<p class="mim-text-font">
Farfel-Becker, T., Vitner, E., Dekel, H., Leshem, N., Enquist, I. B., Karlsson, S., Futerman, A. H.
<strong>No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.</strong>
Hum. Molec. Genet. 18: 1482-1488, 2009.
[PubMed: 19193629]
[Full Text: https://doi.org/10.1093/hmg/ddp061]
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<li>
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Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A., Di Rocco, M.
<strong>Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. (Letter)</strong>
Am. J. Med. Genet. 134A: 95-96, 2005.
[PubMed: 15690354]
[Full Text: https://doi.org/10.1002/ajmg.a.30316]
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<p class="mim-text-font">
Goker-Alpan, O., Schiffmann, R., Park, J. K., Stubblefield, B. K., Tayebi, N., Sidransky, E.
<strong>Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.</strong>
J. Pediat. 143: 273-276, 2003.
[PubMed: 12970647]
[Full Text: https://doi.org/10.1067/S0022-3476(03)00302-0]
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<li>
<p class="mim-text-font">
Gornati, R., Berra, B., Montorfano, G., Martini, C., Ciana, G., Ferrari, P., Romano, M., Bembi, B.
<strong>Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.</strong>
J. Inherit. Metab. Dis. 25: 47-55, 2002.
[PubMed: 11999980]
[Full Text: https://doi.org/10.1023/a:1015137917508]
</p>
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<li>
<p class="mim-text-font">
Grace, M. E., Smith, F., Latham, T., Horowitz, M., Berg, A., Grabowski, G. A.
<strong>Gaucher disease: a molecular basis for the type 2 and type 3 phenotypes. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A156 only, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Holleran, W. M., Ziegler, S. G., Goker-Alpan, O., Eblan, M. J., Elias, P. M., Schiffmann, R., Sidransky, E.
<strong>Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. (Letter)</strong>
Clin. Genet. 69: 355-357, 2006.
[PubMed: 16630170]
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00589.x]
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<li>
<p class="mim-text-font">
Koto, Y., Sakai, N., Lee, Y., Kakee, N., Matsuda, J., Tsuboi, K., Shimozawa, N., Okuyama, T., Nakamura, K., Narita, A., kobayashi, H., Uehara, R., Nakamura, Y., Kato, K., Eto, Y.
<strong>Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: a nationwide survey in Japan.</strong>
Molec. Genet. Metab. 133: 277-288, 2021.
[PubMed: 34090759]
[Full Text: https://doi.org/10.1016/j.ymgme.2021.05.004]
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Owada, M., Sakiyama, T., Kitagawa, T.
<strong>Neuropathic Gaucher&#x27;s disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.</strong>
Pediat. Res. 11: 641-646, 1977.
[PubMed: 870871]
[Full Text: https://doi.org/10.1203/00006450-197705000-00004]
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<li>
<p class="mim-text-font">
Saranjam, H., Chopra, S. S., Levy, H., Stubblefield, B. K., Maniwang, E., Cohen, I. J., Baris, H., Sidransky, E., Tayebi, N.
<strong>A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.</strong>
Europ. J. Hum. Genet. 21: 115-117, 2013.
[PubMed: 22713811]
[Full Text: https://doi.org/10.1038/ejhg.2012.105]
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<li>
<p class="mim-text-font">
Schneider, E. L., Ellis, W. G., Brady, R. O., McCulloch, J. R., Epstein, C. J.
<strong>Infantile (type II) Gaucher&#x27;s disease: in utero diagnosis and fetal pathology.</strong>
J. Pediat. 81: 1134-1139, 1972.
[PubMed: 4674572]
[Full Text: https://doi.org/10.1016/s0022-3476(72)80245-2]
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<li>
<p class="mim-text-font">
Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., Sidransky, E.
<strong>Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.</strong>
Hum. Mutat. 15: 181-188, 2000.
[PubMed: 10649495]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(200002)15:2&lt;181::AID-HUMU7&gt;3.0.CO;2-S]
</p>
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<li>
<p class="mim-text-font">
Svennerholm, L., Mansson, J.-E., Rosengren, B.
<strong>Cerebroside-beta-glucosidase activity in Gaucher brain.</strong>
Clin. Genet. 30: 131-135, 1986.
[PubMed: 3757304]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00582.x]
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<li>
<p class="mim-text-font">
Tsuji, S., Choudary, P. V., Martin, B. M., Stubblefield, B. K., Mayor, J. A., Barranger, J. A., Ginns, E. I.
<strong>A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher&#x27;s disease.</strong>
New Eng. J. Med. 316: 570-575, 1987.
[PubMed: 2880291]
[Full Text: https://doi.org/10.1056/NEJM198703053161002]
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<li>
<p class="mim-text-font">
Vellodi, A., Bembi, B., de Villemeur, T. B., Collin-Histed, T., Erikson, A., Mengel, E., Rolfs, A., Tylki-Szymanska, A.
<strong>Management of neuronopathic Gaucher disease: a European consensus.</strong>
J. Inherit. Metab. Dis. 24: 319-327, 2001.
[PubMed: 11486896]
[Full Text: https://doi.org/10.1023/a:1010514614570]
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<li>
<p class="mim-text-font">
Vitner, E. B., Dekel, H., Zigdon, H., Shachar, T., Farfel-Becker, T., Eilam, R., Karlsson, S., Futerman, A. H.
<strong>Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.</strong>
Hum. Molec. Genet. 19: 3583-3590, 2010.
[PubMed: 20616152]
[Full Text: https://doi.org/10.1093/hmg/ddq273]
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<li>
<p class="mim-text-font">
Wei, H., Kim, S. J., Zhang, Z., Tsai, P. C., Wisniewski, K. E., Mukherjee, A. B.
<strong>ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones.</strong>
Hum. Molec. Genet. 17: 469-477, 2008.
[PubMed: 17989065]
[Full Text: https://doi.org/10.1093/hmg/ddm324]
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Wigderson, M., Firon, N., Horowitz, Z., Wilder, S., Frishberg, Y., Reiner, O., Horowitz, M.
<strong>Characterization of mutations in Gaucher patients by cDNA cloning.</strong>
Am. J. Hum. Genet. 44: 365-377, 1989.
[PubMed: 2464926]
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