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Entry
- #231000 - GAUCHER DISEASE, TYPE III; GD3
- OMIM
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<span class="h4">#231000</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/231000"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalManagement">Clinical Management</a>
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<div><a href="https://clinicaltrials.gov/search?cond=GAUCHER DISEASE, TYPE III" 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=77261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Gaucher disease type 3</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">
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<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:0110959" 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/231000" 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/OMIA000405/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0110959" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div 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:231000" 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> 5963005<br />
<strong>ORPHA:</strong> 355, 77261<br />
<strong>DO:</strong> 0110959<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>
231000
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GAUCHER DISEASE, TYPE III; GD3
</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 III<br />
GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE<br />
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE<br />
GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
GAUCHER DISEASE, TYPE IIIA, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
GAUCHER DISEASE, TYPE IIIB, INCLUDED<br />
GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1217?start=-3&limit=10&highlight=1217">
1q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Gaucher disease, type III
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/231000"> 231000 </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/231000" 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/231000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/231000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89362005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89362005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262285001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262285001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161832001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161832001</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574742&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574742</a>, <a href="https://bioportal.bioontology.org/search?q=C1262477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1262477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004325</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004325</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">
- Abnormal eye movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103252009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103252009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span><br /> -
Abnormal saccades <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856499</a>]</span><br /> -
Supranuclear gaze palsy, horizontal (type IIIB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856500&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856500</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/420675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">420675003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span><br /> -
Vertical ocular movements are usually preserved <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856501&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856501</a>]</span><br /> -
Squint <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> 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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</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>
<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">
- Subacute neurologic deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856494</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 /> -
Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Intellectual deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
Speech abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29164008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29164008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162294008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233715</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Spastic paraparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037771</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002313</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002313</a>]</span><br /> -
Myoclonus (subtype 3A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856496</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
Myoclonic seizures (subtype 3A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856497&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856497</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
Dementia (subtype 3A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856498</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Gaucher cells in bone marrow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856530</a>]</span><br /> -
Pancytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span><br /> -
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 />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Decreased beta-glucocerebrosidase protein and activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842710</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Onset usually in childhood (range infancy to late childhood)<br /> -
Adult onset has been reported<br /> -
Subtype 3A comprises myoclonus and dementia<br /> -
Subtype 3B comprises horizontal supranuclear gaze palsy and aggressive systemic disease<br /> -
Subtype 3C (<a href="/entry/231005">231005</a>) comprises cardiovascular calcifications<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the acid beta-glucocerebrosidase gene (GBA, <a href="/entry/606463#0001">606463.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Gaucher disease type III (GD3) 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>Mutations in the same gene cause Gaucher disease type 1 (<a href="/entry/230800">230800</a>), type 2 (<a href="/entry/230900">230900</a>), and subtype IIIC (<a href="/entry/231005">231005</a>).</p>
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<strong>Description</strong>
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<p>Gaucher disease type III (GD3) is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II.</p><p><a href="#22" class="mim-tip-reference" title="Patterson, M. C., Horowitz, M., Abel, R. B., Currie, J. N., Yu, K.-T., Kaneski, C., Higgins, J. J., O&#x27;Neill, R. R., Fedio, P., Pikus, A., Brady, R. O., Barton, N. W. &lt;strong&gt;Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher&#x27;s disease.&lt;/strong&gt; Neurology 43: 1993-1997, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8413956/&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;8413956&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.43.10.1993&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="8413956">Patterson et al. (1993)</a> suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (<a href="/entry/231005">231005</a>), which is associated with cardiovascular calcifications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8413956" 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="#16" class="mim-tip-reference" title="Herrlin, K.-M., Hillborg, P. O. &lt;strong&gt;Neurological signs in a juvenile form of Gaucher&#x27;s disease.&lt;/strong&gt; Acta Paediat. 51: 137-154, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13906837/&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;13906837&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1962.tb06522.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="13906837">Herrlin and Hillborg (1962)</a> reported a pedigree with juvenile Gaucher disease and neurologic signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13906837" 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="Miller, J. D., McCluer, R., Kanfer, J. N. &lt;strong&gt;Gaucher&#x27;s disease: neurologic disorder in adult siblings.&lt;/strong&gt; Ann. Intern. Med. 78: 883-887, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4713569/&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;4713569&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-78-6-883&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="4713569">Miller et al. (1973)</a> described Gaucher disease with neurologic manifestations in 3 adult sibs. Features included seizures and decreased beta-glucocerebrosidase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4713569" 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="Dreborg, S., Erikson, A., Hagberg, B. &lt;strong&gt;Gaucher disease--Norrbottnian type: I. General clinical description.&lt;/strong&gt; Europ. J. Pediat. 133: 107-118, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7363908/&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;7363908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441578&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="7363908">Dreborg et al. (1980)</a> reported clinical studies of a large number of patients with a distinctive type of Gaucher disease that they termed the 'Norrbottnian type' because of its origin from the province of Norrbotten, the northern-most county in Sweden. Median age at onset was 2.5 years (range 8 months to 14.5 years). Initially, affected patients had normal intelligence and short stature with splenomegaly. Patients later developed abnormal eye movements and some developed seizures. The severity of the clinical symptoms and signs and course of the disease differed markedly not only between families but also between sibs. Splenectomy accelerated deterioration, especially with regard to skeletal and central nervous system manifestations. Biochemical studies were performed by <a href="#15" class="mim-tip-reference" title="Hakansson, G. &lt;strong&gt;Biochemical Studies of the Norrbottnian Type of Gaucher Disease.&lt;/strong&gt; Thesis: Gotteborg (pub.) 1979."None>Hakansson (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7363908" 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="#30" class="mim-tip-reference" title="Tibblin, E., Dreborg, S., Erikson, A., Hakansson, G., Svennerholm, L. &lt;strong&gt;Hematological findings in the Norrbottnian type of Gaucher disease.&lt;/strong&gt; Europ. J. Pediat. 139: 187-191, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7160406/&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;7160406&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01377354&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="7160406">Tibblin et al. (1982)</a> reported anemia, leukopenia, and thrombocytopenia in patients with the Norrbottnian type of Gaucher disease. Splenectomy resulted in improvement of these hematologic parameters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7160406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Erikson, A., Wahlberg, I. &lt;strong&gt;Gaucher disease--Norrbottnian type: ocular abnormalities.&lt;/strong&gt; Acta Ophthal. 63: 221-225, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4003050/&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;4003050&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1755-3768.1985.tb01537.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="4003050">Erikson and Wahlberg (1985)</a> found that patients with the Norrbottnian type of Gaucher disease showed horizontal gaze abnormalities during the first 10 years of life, similar to congenital oculomotor apraxia. Other ocular features included squint, white retinal infiltrations, and myopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4003050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Gross-Tsur, V., Har-Even, Y., Gutman, I., Amir, N. &lt;strong&gt;Oculomotor apraxia: the presenting sign of Gaucher disease.&lt;/strong&gt; Pediat. Neurol. 5: 128-129, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2712947/&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;2712947&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0887-8994(89)90042-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2712947">Gross-Tsur et al. (1989)</a> reported 2 sisters, aged 6.5 and 5.5 years, respectively, in whom the presenting sign of Gaucher disease was oculomotor apraxia. The authors noted that the oculomotor deficit in Gaucher disease is usually characterized by failure of volitional horizontal gaze with preservation of vertical ocular movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2712947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Raja, M., Azzoni, A., Giona, F., Regis, S., Grossi, S., Filocamo, M., Sidransky, E. &lt;strong&gt;Movement and mood disorder in two brothers with Gaucher disease.&lt;/strong&gt; Clin. Genet. 72: 357-361, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17850633/&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;17850633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00863.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="17850633">Raja et al. (2007)</a> reported 2 brothers with Gaucher disease diagnosed as adults who both developed severe parkinsonism, cognitive impairment, and mood disorders. They were of southern Italian descent, and consanguinity was suspected. One brother presented with symptoms of bipolar disorder at age 49 and developed parkinsonism a few months later. Further studies showed brain hyperintensities on MRI and EEG abnormalities. The second brother presented with depressive symptoms at age 49 that worsened over the following years. He then developed parkinsonism with dystonic features. Both patients also had biliary lithiasis. The first brother had a history of meningitis, and at least 2 presumably unaffected family members had depression. Genetic analysis identified a homozygous mutation (<a href="/entry/606463#0001">606463.0001</a>) in the GBA gene in both brothers. <a href="#23" class="mim-tip-reference" title="Raja, M., Azzoni, A., Giona, F., Regis, S., Grossi, S., Filocamo, M., Sidransky, E. &lt;strong&gt;Movement and mood disorder in two brothers with Gaucher disease.&lt;/strong&gt; Clin. Genet. 72: 357-361, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17850633/&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;17850633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00863.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="17850633">Raja et al. (2007)</a> suggested that some Gaucher patients may develop motor or cognitive neurologic symptoms later in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850633" 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="Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E. &lt;strong&gt;Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.&lt;/strong&gt; Neurology 70: 976-978, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18347322/&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;18347322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000305963.37449.32&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="18347322">Benko et al. (2008)</a> reported an unusual case in which a 3-year-old boy had both Gaucher disease type III, resulting from a homozygous mutation in the GBA gene (L444P; <a href="/entry/606463#0001">606463.0001</a>) on chromosome 1q22, and Charcot-Marie-Tooth disease type 1B (CMT1B; <a href="/entry/118200">118200</a>), resulting from a homozygous mutation in the MPZ gene (<a href="/entry/159440">159440</a>) on chromosome 1q23.3. Further analysis showed that the father also carried the MPZ mutation and had CMT1B, and that the boy had complete paternal isodisomy of chromosome 1 with no evidence of the maternal chromosome 1. <a href="#1" class="mim-tip-reference" title="Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E. &lt;strong&gt;Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.&lt;/strong&gt; Neurology 70: 976-978, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18347322/&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;18347322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000305963.37449.32&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="18347322">Benko et al. (2008)</a> noted the atypical form of inheritance as well as the unique molecular mechanism of 2 concurrent mendelian disorders in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18347322" 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 type III, <a href="#7" 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 it is a clinically heterogeneous disorder that is typically diagnosed based on neurologic manifestations. Most patients are diagnosed in childhood, but adult presentations have been observed. Three GD3 subtypes include GD3A, characterized by the development of myoclonic epilepsy; GD3B, characterized by abnormal saccades and significant visceral involvement; and GD3C (<a href="/entry/231005">231005</a>), characterized by corneal opacities, aortic calcification, and/or hydrocephalus. Ophthalmologic findings in GD3 include slowing of horizontal saccades and sometimes also vertical saccades. White vitreous opacities, consisting of Gaucher cells, can be seen and correlate with more severe disease. EEG abnormalities, including background slowing, are seen in most patients. A wide range of cognitive outcomes have been reported, ranging from severely compromised to above average. GD3A typically manifests with severe neurologic manifestations including progressive myoclonic epilepsy. Pulmonary disease includes interstitial lung disease caused by infiltration of Gaucher cells in the lungs. Skeletal involvement, which is particularly common in GD3B and the Norrbottnian subtype, includes bone pain, bone crises, and osteopenia among other findings. <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="#12" 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 and the detected genotypic heterogeneity found by identification of all 18 alleles, <a href="#12" 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="#11" 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. Neurologic features included spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. Genetic analysis identified homozygosity for a complex allele containing 2 GBA mutations in cis (H255Q and D409H; see <a href="/entry/606463#0047">606463.0047</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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 10 Swedish families with the Norrbottnian form of Gaucher disease, <a href="#4" class="mim-tip-reference" title="Dahl, N., Erikson, A., Hammarstrom-Heeroma, K., Pettersson, U. &lt;strong&gt;Tight linkage between type III Gaucher&#x27;s disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.&lt;/strong&gt; Genomics 3: 296-298, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2468600/&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;2468600&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(88)90118-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2468600">Dahl et al. (1988)</a> found linkage to an MspI polymorphism in the GBA gene. The results suggested that the mutation occurred only once in the Swedish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2468600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#28" class="mim-tip-reference" title="Svennerholm, L., Erikson, A., Groth, C. G., Ringden, O., Mansson, J.-E. &lt;strong&gt;Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.&lt;/strong&gt; Dev. Neurosci. 13: 345-351, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1817041/&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;1817041&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000112184&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="1817041">Svennerholm et al. (1991)</a> described the beneficial effects of bone marrow transplantation in Gaucher disease type III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1817041" 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="Erikson, A., Astrom, M., Mansson, J. E. &lt;strong&gt;Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease.&lt;/strong&gt; Neuropediatrics 26: 203-207, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544959/&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;8544959&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-979754&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="8544959">Erikson et al. (1995)</a> reported that infusion therapy with a macrophage-targeted glucosylceramidase decreased hepatosplenomegaly, normalized hematologic parameters, and prevented progression of neurologic deterioration in all 8 of their patients treated from 13 to 29 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8544959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Rice, E. O., Mifflin, T. E., Sakallah, S., Lee, R. E., Sansieri, C. A., Barranger, J. A. &lt;strong&gt;Gaucher disease: studies of phenotype, molecular diagnosis and treatment.&lt;/strong&gt; Clin. Genet. 49: 111-118, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8737974/&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;8737974&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1996.tb03268.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="8737974">Rice et al. (1996)</a> reported a 5-year-old patient with type III Gaucher disease who was treated with enzyme replacement therapy (ERT) at a dose of 60 U/kg every 2 weeks since age 2.5 years and showed no progression of neurologic involvement. Two other type III patients who were treated at the same dose beginning at ages 14 years and 41 years, respectively, showed no measurable neurologic change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737974" 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="#31" 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 neuronopathic Gaucher disease. They recommended 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 ERT reversed, stabilized, or slowed the progression of neurologic involvement in some patients. In patients with established acute neuronopathic disease, ERT 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><p><a href="#26" class="mim-tip-reference" title="Schiffmann, R., FitzGibbon, E. J., Harris, C., DeVile, C., Davies, E. H., Abel, L., van Schaik, I. N., Benko, W. S., Timmons, M., Ries, M., Vellodi, A. &lt;strong&gt;Randomized, controlled trial of miglustat in Gaucher&#x27;s disease type 3.&lt;/strong&gt; Ann. Neurol. 64: 514-522, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19067373/&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;19067373&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19067373[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/10.1002/ana.21491&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="19067373">Schiffmann et al. (2008)</a> reported the results of a randomized control study of miglustat, a substrate reduction therapy that inhibits glucosylceramide synthase (UGCG; <a href="/entry/602874">602874</a>), in 30 adult patients with Gaucher disease type III. Twenty-nine patients received enzyme replacement therapy during the 24-month study period. There were no significant differences in vertical saccadic eye movement velocity or in other neurologic or neuropsychologic evaluations between the patients who received miglustat and those who did not. Organ volumes and hematologic parameters remained stable in both treatment groups. However, patients receiving miglustat showed some improvement in pulmonary function and decrease of chitotriosidase (<a href="/entry/600031">600031</a>) levels compared to patients receiving enzyme replacement therapy alone. <a href="#26" class="mim-tip-reference" title="Schiffmann, R., FitzGibbon, E. J., Harris, C., DeVile, C., Davies, E. H., Abel, L., van Schaik, I. N., Benko, W. S., Timmons, M., Ries, M., Vellodi, A. &lt;strong&gt;Randomized, controlled trial of miglustat in Gaucher&#x27;s disease type 3.&lt;/strong&gt; Ann. Neurol. 64: 514-522, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19067373/&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;19067373&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19067373[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/10.1002/ana.21491&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="19067373">Schiffmann et al. (2008)</a> concluded that this therapy did not appear to have significant benefits on the neurologic manifestations of GD type III, but may have positive effects on systemic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19067373" 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, <a href="#7" 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 because ERT does not cross the blood brain barriers, it is effective treatment for many visceral symptoms of GD3, but it does not address neuropathic manifestations. They further noted that improvements in visceral and hematologic manifestations improved quality of life and longevity. <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>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p><a href="#6" class="mim-tip-reference" title="Dahl, N., Lagerstrom, M., Erikson, A., Pettersson, U. &lt;strong&gt;Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.&lt;/strong&gt; Am. J. Hum. Genet. 47: 275-278, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2378352/&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;2378352&lt;/a&gt;]" pmid="2378352">Dahl et al. (1990)</a> showed that the Norrbottnian form of Gaucher disease is caused by homozygosity for the leu444-to-pro (L444P; <a href="/entry/606463#0001">606463.0001</a>) mutation in the GBA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2378352" 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="#19" class="mim-tip-reference" title="Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., Sidransky, E. &lt;strong&gt;Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1777-1786, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10796875/&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;10796875&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302925&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="10796875">Koprivica et al. (2000)</a> found that homozygosity for L444P was associated with type III Gaucher disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10796875" 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="#21" class="mim-tip-reference" title="Park, J. K., Orvisky, E., Tayebi, N., Kaneski, C., Lamarca, M. E., Stubblefield, B. K., Martin, B. M., Schiffmann, R., Sidransky, E. &lt;strong&gt;Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.&lt;/strong&gt; Pediat. Res. 53: 387-395, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12595585/&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;12595585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/01.PDR.0000049515.79882.94&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="12595585">Park et al. (2003)</a> studied 16 patients with Gaucher disease type III who were part of a rare patient subgroup manifesting progressive myoclonic epilepsy (IIIA). Fourteen different genotypes were found, yet there were several shared alleles, including V394L (<a href="/entry/606463#0005">606463.0005</a>), G377S (<a href="/entry/606463#0040">606463.0040</a>), and N188S (<a href="/entry/606463#0026">606463.0026</a>). The genotypes differed from those found in most patients with type III, and some of the shared alleles in these patients had previously been associated with nonneuronopathic Gaucher disease. Western studies showed that the patients lacked the processed 56-kD enzyme isoform usually indicative of neuronopathic disease. Although the genotype spectrum was distinct from the rest of Gaucher type III disease, <a href="#21" class="mim-tip-reference" title="Park, J. K., Orvisky, E., Tayebi, N., Kaneski, C., Lamarca, M. E., Stubblefield, B. K., Martin, B. M., Schiffmann, R., Sidransky, E. &lt;strong&gt;Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.&lt;/strong&gt; Pediat. Res. 53: 387-395, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12595585/&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;12595585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/01.PDR.0000049515.79882.94&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="12595585">Park et al. (2003)</a> concluded that lack of a specific shared genotype and the variability of clinical presentations indicated a contribution by other genetic and environmental modifiers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12595585" 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="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p>The Swedish families with the Norrbottnian type of Gaucher disease are found in 2 geographically distinct clusters. Dahl et al. (<a href="#6" class="mim-tip-reference" title="Dahl, N., Lagerstrom, M., Erikson, A., Pettersson, U. &lt;strong&gt;Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.&lt;/strong&gt; Am. J. Hum. Genet. 47: 275-278, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2378352/&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;2378352&lt;/a&gt;]" pmid="2378352">1990</a>, <a href="#5" class="mim-tip-reference" title="Dahl, N., Hillborg, P.-O., Olofsson, A. &lt;strong&gt;Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies.&lt;/strong&gt; Hum. Genet. 92: 513-515, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8244344/&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;8244344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00216461&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="8244344">1993</a>) demonstrated that both clusters are caused by the same GBA mutation (L444P). Mutation analysis was combined with a genealogic reconstruction of 19 contemporary index families. Each cluster was traced back to a single ancestral couple who were not known to be related to each other; however, the molecular studies were considered compatible with a single founder who arrived in northern Sweden in or before the 16th century. There was a single connection between the 2 pedigrees as published: the mother of an affected individual in one cluster came from the other isolate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8244344+2378352" 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>Animal Model</strong>
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<p><a href="#27" class="mim-tip-reference" title="Sun, Y., Liou, B., Ran, H., Skelton, M. R., Williams, M. T., Vorhees, C. V., Kitatani, K., Hannun, Y. A., Witte, D. P., Xu, Y.-H., Grabowski, G. A. &lt;strong&gt;Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.&lt;/strong&gt; Hum. Molec. Genet. 19: 1088-1097, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20047948/&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;20047948&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20047948[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/10.1093/hmg/ddp580&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="20047948">Sun et al. (2010)</a> backcrossed saposin C (PSAP; <a href="/entry/176801">176801</a>)-deficient mice (C -/-) to point-mutated GCase (V394L/V394L) (<a href="/entry/606463#0005">606463.0005</a>) mice. The resultant mice (4L;C*) began to exhibit CNS abnormalities at 30 days, and death occurred at 48 days due to neurological deficits. Axonal degeneration was evident in brainstem, spinal cord, and white matter of cerebellum accompanied by increasing infiltration of the brainstem, cortex, and thalamus by microglial cells and activation of astrocytes. Electron microscopy showed inclusion bodies in neuronal processes and degenerating cells. Accumulation of p62 (SQSTM1; <a href="/entry/601530">601530</a>) and Lamp2 (<a href="/entry/309060">309060</a>) were prominent in the brain, suggesting the impairment of autophagosome/lysosome function. This phenotype was different from either V394L/V394L or C -/- alone. Relative to V394L/V394L mice, 4L;C* mice had diminished GCase protein and activity. Marked increases of glucosylsphingosine (GS) and moderate elevation of glucosylceramide (GC) were found in 4L;C* brains. Visceral tissues had increases of GS and GC, but no storage cells were found. Neuronal cells in thick hippocampal slices from 4L;C* mice had significantly attenuated long-term potentiation, presumably resulting from substrate accumulation. The 4L;C* mouse mimicked the CNS phenotype and biochemistry of some type 3 (subacute neuronopathic) variants of Gaucher disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20047948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Blom1983" class="mim-tip-reference" title="Blom, S., Erikson, A. &lt;strong&gt;Gaucher disease--Norrbottnian type: neurodevelopmental, neurological, and neurophysiological aspects.&lt;/strong&gt; Europ. J. Pediat. 140: 316-322, 1983.">Blom and Erikson (1983)</a>; <a href="#Chiao1978" class="mim-tip-reference" title="Chiao, Y., Hoyson, G. M., Peters, S. P., Lee, R. E., Diven, W. F., Murphy, J. V., Glew, R. H. &lt;strong&gt;Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 75: 2448-2452, 1978.">Chiao et al. (1978)</a>; <a href="#Hakansson1980" class="mim-tip-reference" title="Hakansson, G., Dreborg, S., Lindsten, J., Svennerholm, L. &lt;strong&gt;Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with Norrbottnian type of Gaucher disease.&lt;/strong&gt; Clin. Genet. 18: 268-273, 1980.">Hakansson et al.
(1980)</a>; <a href="#Ho1972" class="mim-tip-reference" title="Ho, M. W., Seck, J., Schmidt, D., Veath, M. L., Johnson, W., Brady, R. O., O&#x27;Brien, J. S. &lt;strong&gt;Adult Gaucher&#x27;s disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.&lt;/strong&gt; Am. J. Hum. Genet. 24: 37-45, 1972.">Ho et al. (1972)</a>; <a href="#Hultberg1978" class="mim-tip-reference" title="Hultberg, B. &lt;strong&gt;Beta-glucosidase activities in the Norrbotten type of juvenile Gaucher&#x27;s disease.&lt;/strong&gt; Acta Neurol. Scand. 58: 89-94, 1978.">Hultberg (1978)</a>; <a href="#Rappeport1984" class="mim-tip-reference" title="Rappeport, J. M., Ginns, E. I. &lt;strong&gt;Bone-marrow transplantation in severe Gaucher&#x27;s disease.&lt;/strong&gt; New Eng. J. Med. 311: 84-88, 1984.">Rappeport and Ginns
(1984)</a>; <a href="#Svennerholm1980" class="mim-tip-reference" title="Svennerholm, L., Hakansson, G., Dreborg, S. &lt;strong&gt;Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (type 3) of Gaucher disease.&lt;/strong&gt; Clin. Chim. Acta 106: 183-193, 1980.">Svennerholm et al. (1980)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Benko2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Benko, W. S., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., Sidransky, E.
<strong>Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3.</strong>
Neurology 70: 976-978, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18347322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18347322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18347322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000305963.37449.32" target="_blank">Full Text</a>]
</p>
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<a id="Blom1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Blom, S., Erikson, A.
<strong>Gaucher disease--Norrbottnian type: neurodevelopmental, neurological, and neurophysiological aspects.</strong>
Europ. J. Pediat. 140: 316-322, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6628452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6628452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6628452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442672" target="_blank">Full Text</a>]
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<a id="Chiao1978" class="mim-anchor"></a>
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<p class="mim-text-font">
Chiao, Y., Hoyson, G. M., Peters, S. P., Lee, R. E., Diven, W. F., Murphy, J. V., Glew, R. H.
<strong>Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.</strong>
Proc. Nat. Acad. Sci. 75: 2448-2452, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27787" 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.75.5.2448" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Dahl1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dahl, N., Erikson, A., Hammarstrom-Heeroma, K., Pettersson, U.
<strong>Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.</strong>
Genomics 3: 296-298, 1988.
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[<a href="https://doi.org/10.1016/0888-7543(88)90118-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00216461" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2021.01.002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00441578" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2007-979754" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1755-3768.1985.tb01537.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30316" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/S0022-3476(03)00302-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0887-8994(89)90042-8" target="_blank">Full Text</a>]
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<strong>Assay of the beta-glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with Norrbottnian type of Gaucher disease.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00884.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1962.tb06522.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1600-0404.1978.tb02865.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302925" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-78-6-883" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/01.PDR.0000049515.79882.94" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.43.10.1993" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00863.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198407123110203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb03268.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.21491" target="_blank">Full Text</a>]
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<strong>Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.</strong>
Hum. Molec. Genet. 19: 1088-1097, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20047948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20047948</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20047948[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=20047948" 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/ddp580" target="_blank">Full Text</a>]
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Svennerholm, L., Erikson, A., Groth, C. G., Ringden, O., Mansson, J.-E.
<strong>Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.</strong>
Dev. Neurosci. 13: 345-351, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1817041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1817041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1817041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000112184" target="_blank">Full Text</a>]
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<a id="Svennerholm1980" class="mim-anchor"></a>
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Svennerholm, L., Hakansson, G., Dreborg, S.
<strong>Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (type 3) of Gaucher disease.</strong>
Clin. Chim. Acta 106: 183-193, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6773705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6773705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6773705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0009-8981(80)90171-0" target="_blank">Full Text</a>]
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<a id="Tibblin1982" class="mim-anchor"></a>
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Tibblin, E., Dreborg, S., Erikson, A., Hakansson, G., Svennerholm, L.
<strong>Hematological findings in the Norrbottnian type of Gaucher disease.</strong>
Europ. J. Pediat. 139: 187-191, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7160406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7160406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7160406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01377354" target="_blank">Full Text</a>]
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<a id="Vellodi2001" class="mim-anchor"></a>
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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>]
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Hilary J. Vernon - updated : 05/18/2021
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George E. Tiller - updated : 11/17/2011<br>Cassandra L. Kniffin - updated : 6/26/2009<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Cassandra L. Kniffin - reorganized : 11/2/2006<br>Cassandra L. Kniffin - updated : 11/1/2006<br>Cassandra L. Kniffin - updated : 10/2/2006<br>Natalie E. Krasikov - updated : 3/26/2004<br>Natalie E. Krasikov - updated : 3/12/2004<br>Ada Hamosh - updated : 8/29/2001<br>Iosif W. Lurie - updated : 7/26/1996<br>Orest Hurko - updated : 4/2/1996
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Victor A. McKusick : 6/3/1986
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carol : 01/11/2022
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<strong>#</strong> 231000
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GAUCHER DISEASE, TYPE III; GD3
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<em>Alternative titles; symbols</em>
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GD III<br />
GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE<br />
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE<br />
GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL
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Other entities represented in this entry:
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GAUCHER DISEASE, TYPE IIIA, INCLUDED
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GAUCHER DISEASE, TYPE IIIB, INCLUDED<br />
GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED
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<strong>SNOMEDCT:</strong> 5963005; &nbsp;
<strong>ORPHA:</strong> 355, 77261; &nbsp;
<strong>DO:</strong> 0110959; &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 III
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231000
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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 III (GD3) is caused by homozygous or compound heterozygous mutation in the gene encoding acid beta-glucosidase (GBA; 606463) on chromosome 1q22.</p><p>Mutations in the same gene cause Gaucher disease type 1 (230800), type 2 (230900), and subtype IIIC (231005).</p>
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<strong>Description</strong>
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<p>Gaucher disease type III (GD3) is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II.</p><p>Patterson et al. (1993) suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC (231005), which is associated with cardiovascular calcifications. </p>
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<strong>Clinical Features</strong>
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<p>Herrlin and Hillborg (1962) reported a pedigree with juvenile Gaucher disease and neurologic signs. </p><p>Miller et al. (1973) described Gaucher disease with neurologic manifestations in 3 adult sibs. Features included seizures and decreased beta-glucocerebrosidase activity. </p><p>Dreborg et al. (1980) reported clinical studies of a large number of patients with a distinctive type of Gaucher disease that they termed the 'Norrbottnian type' because of its origin from the province of Norrbotten, the northern-most county in Sweden. Median age at onset was 2.5 years (range 8 months to 14.5 years). Initially, affected patients had normal intelligence and short stature with splenomegaly. Patients later developed abnormal eye movements and some developed seizures. The severity of the clinical symptoms and signs and course of the disease differed markedly not only between families but also between sibs. Splenectomy accelerated deterioration, especially with regard to skeletal and central nervous system manifestations. Biochemical studies were performed by Hakansson (1979). </p><p>Tibblin et al. (1982) reported anemia, leukopenia, and thrombocytopenia in patients with the Norrbottnian type of Gaucher disease. Splenectomy resulted in improvement of these hematologic parameters. </p><p>Erikson and Wahlberg (1985) found that patients with the Norrbottnian type of Gaucher disease showed horizontal gaze abnormalities during the first 10 years of life, similar to congenital oculomotor apraxia. Other ocular features included squint, white retinal infiltrations, and myopia. </p><p>Gross-Tsur et al. (1989) reported 2 sisters, aged 6.5 and 5.5 years, respectively, in whom the presenting sign of Gaucher disease was oculomotor apraxia. The authors noted that the oculomotor deficit in Gaucher disease is usually characterized by failure of volitional horizontal gaze with preservation of vertical ocular movements. </p><p>Raja et al. (2007) reported 2 brothers with Gaucher disease diagnosed as adults who both developed severe parkinsonism, cognitive impairment, and mood disorders. They were of southern Italian descent, and consanguinity was suspected. One brother presented with symptoms of bipolar disorder at age 49 and developed parkinsonism a few months later. Further studies showed brain hyperintensities on MRI and EEG abnormalities. The second brother presented with depressive symptoms at age 49 that worsened over the following years. He then developed parkinsonism with dystonic features. Both patients also had biliary lithiasis. The first brother had a history of meningitis, and at least 2 presumably unaffected family members had depression. Genetic analysis identified a homozygous mutation (606463.0001) in the GBA gene in both brothers. Raja et al. (2007) suggested that some Gaucher patients may develop motor or cognitive neurologic symptoms later in life. </p><p>Benko et al. (2008) reported an unusual case in which a 3-year-old boy had both Gaucher disease type III, resulting from a homozygous mutation in the GBA gene (L444P; 606463.0001) on chromosome 1q22, and Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), resulting from a homozygous mutation in the MPZ gene (159440) on chromosome 1q23.3. Further analysis showed that the father also carried the MPZ mutation and had CMT1B, and that the boy had complete paternal isodisomy of chromosome 1 with no evidence of the maternal chromosome 1. Benko et al. (2008) noted the atypical form of inheritance as well as the unique molecular mechanism of 2 concurrent mendelian disorders in this patient. </p><p>In a clinical review of Gaucher disease type III, Daykin et al. (2021) noted that it is a clinically heterogeneous disorder that is typically diagnosed based on neurologic manifestations. Most patients are diagnosed in childhood, but adult presentations have been observed. Three GD3 subtypes include GD3A, characterized by the development of myoclonic epilepsy; GD3B, characterized by abnormal saccades and significant visceral involvement; and GD3C (231005), characterized by corneal opacities, aortic calcification, and/or hydrocephalus. Ophthalmologic findings in GD3 include slowing of horizontal saccades and sometimes also vertical saccades. White vitreous opacities, consisting of Gaucher cells, can be seen and correlate with more severe disease. EEG abnormalities, including background slowing, are seen in most patients. A wide range of cognitive outcomes have been reported, ranging from severely compromised to above average. GD3A typically manifests with severe neurologic manifestations including progressive myoclonic epilepsy. Pulmonary disease includes interstitial lung disease caused by infiltration of Gaucher cells in the lungs. Skeletal involvement, which is particularly common in GD3B and the Norrbottnian subtype, includes bone pain, bone crises, and osteopenia among other findings. </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 and 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. Neurologic features included spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. Genetic analysis identified homozygosity for a complex allele containing 2 GBA mutations in cis (H255Q and D409H; see 606463.0047). </p>
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<strong>Mapping</strong>
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<p>In 10 Swedish families with the Norrbottnian form of Gaucher disease, Dahl et al. (1988) found linkage to an MspI polymorphism in the GBA gene. The results suggested that the mutation occurred only once in the Swedish population. </p>
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<strong>Clinical Management</strong>
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<p>Svennerholm et al. (1991) described the beneficial effects of bone marrow transplantation in Gaucher disease type III. </p><p>Erikson et al. (1995) reported that infusion therapy with a macrophage-targeted glucosylceramidase decreased hepatosplenomegaly, normalized hematologic parameters, and prevented progression of neurologic deterioration in all 8 of their patients treated from 13 to 29 months. </p><p>Rice et al. (1996) reported a 5-year-old patient with type III Gaucher disease who was treated with enzyme replacement therapy (ERT) at a dose of 60 U/kg every 2 weeks since age 2.5 years and showed no progression of neurologic involvement. Two other type III patients who were treated at the same dose beginning at ages 14 years and 41 years, respectively, showed no measurable neurologic change. </p><p>Vellodi et al. (2001) reported a European consensus on the management of neuronopathic Gaucher disease. They recommended 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 ERT reversed, stabilized, or slowed the progression of neurologic involvement in some patients. In patients with established acute neuronopathic disease, ERT had little effect on the progressively downhill course. </p><p>Schiffmann et al. (2008) reported the results of a randomized control study of miglustat, a substrate reduction therapy that inhibits glucosylceramide synthase (UGCG; 602874), in 30 adult patients with Gaucher disease type III. Twenty-nine patients received enzyme replacement therapy during the 24-month study period. There were no significant differences in vertical saccadic eye movement velocity or in other neurologic or neuropsychologic evaluations between the patients who received miglustat and those who did not. Organ volumes and hematologic parameters remained stable in both treatment groups. However, patients receiving miglustat showed some improvement in pulmonary function and decrease of chitotriosidase (600031) levels compared to patients receiving enzyme replacement therapy alone. Schiffmann et al. (2008) concluded that this therapy did not appear to have significant benefits on the neurologic manifestations of GD type III, but may have positive effects on systemic disease. </p><p>In a clinical review, Daykin et al. (2021) noted that because ERT does not cross the blood brain barriers, it is effective treatment for many visceral symptoms of GD3, but it does not address neuropathic manifestations. They further noted that improvements in visceral and hematologic manifestations improved quality of life and longevity. </p>
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<strong>Molecular Genetics</strong>
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<p>Dahl et al. (1990) showed that the Norrbottnian form of Gaucher disease is caused by homozygosity for the leu444-to-pro (L444P; 606463.0001) mutation in the GBA gene. </p><p>Koprivica et al. (2000) found that homozygosity for L444P was associated with type III Gaucher disease. </p><p>Park et al. (2003) studied 16 patients with Gaucher disease type III who were part of a rare patient subgroup manifesting progressive myoclonic epilepsy (IIIA). Fourteen different genotypes were found, yet there were several shared alleles, including V394L (606463.0005), G377S (606463.0040), and N188S (606463.0026). The genotypes differed from those found in most patients with type III, and some of the shared alleles in these patients had previously been associated with nonneuronopathic Gaucher disease. Western studies showed that the patients lacked the processed 56-kD enzyme isoform usually indicative of neuronopathic disease. Although the genotype spectrum was distinct from the rest of Gaucher type III disease, Park et al. (2003) concluded that lack of a specific shared genotype and the variability of clinical presentations indicated a contribution by other genetic and environmental modifiers. </p>
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<strong>Population Genetics</strong>
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<p>The Swedish families with the Norrbottnian type of Gaucher disease are found in 2 geographically distinct clusters. Dahl et al. (1990, 1993) demonstrated that both clusters are caused by the same GBA mutation (L444P). Mutation analysis was combined with a genealogic reconstruction of 19 contemporary index families. Each cluster was traced back to a single ancestral couple who were not known to be related to each other; however, the molecular studies were considered compatible with a single founder who arrived in northern Sweden in or before the 16th century. There was a single connection between the 2 pedigrees as published: the mother of an affected individual in one cluster came from the other isolate. </p>
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<strong>Animal Model</strong>
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<p>Sun et al. (2010) backcrossed saposin C (PSAP; 176801)-deficient mice (C -/-) to point-mutated GCase (V394L/V394L) (606463.0005) mice. The resultant mice (4L;C*) began to exhibit CNS abnormalities at 30 days, and death occurred at 48 days due to neurological deficits. Axonal degeneration was evident in brainstem, spinal cord, and white matter of cerebellum accompanied by increasing infiltration of the brainstem, cortex, and thalamus by microglial cells and activation of astrocytes. Electron microscopy showed inclusion bodies in neuronal processes and degenerating cells. Accumulation of p62 (SQSTM1; 601530) and Lamp2 (309060) were prominent in the brain, suggesting the impairment of autophagosome/lysosome function. This phenotype was different from either V394L/V394L or C -/- alone. Relative to V394L/V394L mice, 4L;C* mice had diminished GCase protein and activity. Marked increases of glucosylsphingosine (GS) and moderate elevation of glucosylceramide (GC) were found in 4L;C* brains. Visceral tissues had increases of GS and GC, but no storage cells were found. Neuronal cells in thick hippocampal slices from 4L;C* mice had significantly attenuated long-term potentiation, presumably resulting from substrate accumulation. The 4L;C* mouse mimicked the CNS phenotype and biochemistry of some type 3 (subacute neuronopathic) variants of Gaucher disease. </p>
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<strong>See Also:</strong>
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Blom and Erikson (1983); Chiao et al. (1978); Hakansson et al.
(1980); Ho et al. (1972); Hultberg (1978); Rappeport and Ginns
(1984); Svennerholm et al. (1980)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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<p class="mim-text-font">
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Erikson, A., Wahlberg, I.
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Filocamo, M., Grossi, S., Stroppiano, M., Regis, S., Tortori-Donati, P., Allegri, A., Di Rocco, M.
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Goker-Alpan, O., Schiffmann, R., Park, J. K., Stubblefield, B. K., Tayebi, N., Sidransky, E.
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Gross-Tsur, V., Har-Even, Y., Gutman, I., Amir, N.
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[PubMed: 2712947]
[Full Text: https://doi.org/10.1016/0887-8994(89)90042-8]
</p>
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<p class="mim-text-font">
Hakansson, G., Dreborg, S., Lindsten, J., Svennerholm, L.
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Clin. Genet. 18: 268-273, 1980.
[PubMed: 6777099]
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00884.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hakansson, G.
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</p>
</li>
<li>
<p class="mim-text-font">
Herrlin, K.-M., Hillborg, P. O.
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Acta Paediat. 51: 137-154, 1962.
[PubMed: 13906837]
[Full Text: https://doi.org/10.1111/j.1651-2227.1962.tb06522.x]
</p>
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<li>
<p class="mim-text-font">
Ho, M. W., Seck, J., Schmidt, D., Veath, M. L., Johnson, W., Brady, R. O., O'Brien, J. S.
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</p>
</li>
<li>
<p class="mim-text-font">
Hultberg, B.
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[PubMed: 30251]
[Full Text: https://doi.org/10.1111/j.1600-0404.1978.tb02865.x]
</p>
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<p class="mim-text-font">
Koprivica, V., Stone, D. L., Park, J. K., Callahan, M., Frisch, A., Cohen, I. J., Tayebi, N., Sidransky, E.
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[PubMed: 10796875]
[Full Text: https://doi.org/10.1086/302925]
</p>
</li>
<li>
<p class="mim-text-font">
Miller, J. D., McCluer, R., Kanfer, J. N.
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[PubMed: 4713569]
[Full Text: https://doi.org/10.7326/0003-4819-78-6-883]
</p>
</li>
<li>
<p class="mim-text-font">
Park, J. K., Orvisky, E., Tayebi, N., Kaneski, C., Lamarca, M. E., Stubblefield, B. K., Martin, B. M., Schiffmann, R., Sidransky, E.
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[PubMed: 12595585]
[Full Text: https://doi.org/10.1203/01.PDR.0000049515.79882.94]
</p>
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<li>
<p class="mim-text-font">
Patterson, M. C., Horowitz, M., Abel, R. B., Currie, J. N., Yu, K.-T., Kaneski, C., Higgins, J. J., O'Neill, R. R., Fedio, P., Pikus, A., Brady, R. O., Barton, N. W.
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[PubMed: 8413956]
[Full Text: https://doi.org/10.1212/wnl.43.10.1993]
</p>
</li>
<li>
<p class="mim-text-font">
Raja, M., Azzoni, A., Giona, F., Regis, S., Grossi, S., Filocamo, M., Sidransky, E.
<strong>Movement and mood disorder in two brothers with Gaucher disease.</strong>
Clin. Genet. 72: 357-361, 2007.
[PubMed: 17850633]
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00863.x]
</p>
</li>
<li>
<p class="mim-text-font">
Rappeport, J. M., Ginns, E. I.
<strong>Bone-marrow transplantation in severe Gaucher&#x27;s disease.</strong>
New Eng. J. Med. 311: 84-88, 1984.
[PubMed: 6377066]
[Full Text: https://doi.org/10.1056/NEJM198407123110203]
</p>
</li>
<li>
<p class="mim-text-font">
Rice, E. O., Mifflin, T. E., Sakallah, S., Lee, R. E., Sansieri, C. A., Barranger, J. A.
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[PubMed: 8737974]
[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb03268.x]
</p>
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<li>
<p class="mim-text-font">
Schiffmann, R., FitzGibbon, E. J., Harris, C., DeVile, C., Davies, E. H., Abel, L., van Schaik, I. N., Benko, W. S., Timmons, M., Ries, M., Vellodi, A.
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[PubMed: 19067373]
[Full Text: https://doi.org/10.1002/ana.21491]
</p>
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<li>
<p class="mim-text-font">
Sun, Y., Liou, B., Ran, H., Skelton, M. R., Williams, M. T., Vorhees, C. V., Kitatani, K., Hannun, Y. A., Witte, D. P., Xu, Y.-H., Grabowski, G. A.
<strong>Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.</strong>
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[Full Text: https://doi.org/10.1093/hmg/ddp580]
</p>
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<li>
<p class="mim-text-font">
Svennerholm, L., Erikson, A., Groth, C. G., Ringden, O., Mansson, J.-E.
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[PubMed: 1817041]
[Full Text: https://doi.org/10.1159/000112184]
</p>
</li>
<li>
<p class="mim-text-font">
Svennerholm, L., Hakansson, G., Dreborg, S.
<strong>Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (type 3) of Gaucher disease.</strong>
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[PubMed: 6773705]
[Full Text: https://doi.org/10.1016/0009-8981(80)90171-0]
</p>
</li>
<li>
<p class="mim-text-font">
Tibblin, E., Dreborg, S., Erikson, A., Hakansson, G., Svennerholm, L.
<strong>Hematological findings in the Norrbottnian type of Gaucher disease.</strong>
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[PubMed: 7160406]
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</p>
</li>
<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>
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[PubMed: 11486896]
[Full Text: https://doi.org/10.1023/a:1010514614570]
</p>
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Hilary J. Vernon - updated : 05/18/2021<br>George E. Tiller - updated : 11/17/2011<br>Cassandra L. Kniffin - updated : 6/26/2009<br>Cassandra L. Kniffin - updated : 2/5/2009<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Cassandra L. Kniffin - reorganized : 11/2/2006<br>Cassandra L. Kniffin - updated : 11/1/2006<br>Cassandra L. Kniffin - updated : 10/2/2006<br>Natalie E. Krasikov - updated : 3/26/2004<br>Natalie E. Krasikov - updated : 3/12/2004<br>Ada Hamosh - updated : 8/29/2001<br>Iosif W. Lurie - updated : 7/26/1996<br>Orest Hurko - updated : 4/2/1996
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