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Entry
- #230500 - GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
- OMIM
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<span class="h4">#230500</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/230500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=GM1-GANGLIOSIDOSIS, TYPE I" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=643&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">GM1 gangliosidosis&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11281&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">GM1 gangliosidosis type 1&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK164500/" 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=354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">GM1 gangliosidosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">GM1 gangliosidosis type 1</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5fe39f00-271b-4cea-b163-cdc98014b59b/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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="mimAnimalModels">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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&nbsp;
<div style="display: table-cell;">Animal Models</div>
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<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:0080502" 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/230500" 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/OMIA000402/" 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:0080502" 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 id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:230500" 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>
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<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;
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</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> 238025006, 238026007<br />
<strong>ICD10CM:</strong> E75.19<br />
<strong>ORPHA:</strong> 354, 79255<br />
<strong>DO:</strong> 0080502<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>
230500
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
</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">
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I<br />
GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM<br />
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1<br />
BETA-GALACTOSIDASE-1 DEFICIENCY<br />
GLB1 DEFICIENCY
</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">
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, 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/3/149?start=-3&limit=10&highlight=149">
3p22.3
</a>
</span>
</td>
<td>
<span class="mim-font">
GM1-gangliosidosis, type I
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/230500"> 230500 </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">
GLB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611458"> 611458 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
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<a href="/clinicalSynopsis/230500" 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')">
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&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>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/230500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/230500" 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">
- Dwarfism <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>]</span> <span class="mim-feature-ids hidden">[UMLS: <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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
Full forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856597&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856597</a>]</span><br /> -
Flat nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842876&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842876</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000457</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000457</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6177d3a4fab7cfab6ced65cf65caf77a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Ridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6177d3a4fab7cfab6ced65cf65caf77a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Clear cornea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854822</a>]</span><br /> -
Cherry-red spot in half the patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856598</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gingival hyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441798003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441798003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017566</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Gingival_Overgrowth-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e4e28205bf42ed5b9f7c80e5ea624dec&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dilated cardiomyopathy (in a subset of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
Hypertrophic cardiomyopathy (in a subset of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br /> -
Congestive heart failure (in a subset of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
Valvular heart disease (in a subset of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/368009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">368009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018824</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001654</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001654" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001654</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thick ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249699000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249699000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000900</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Glomerular epithelial cytoplasmic vacuolization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856596</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Hypoplastic vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008479</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008479</a>]</span><br /> -
Beaked vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856599</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004568</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Joint stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84445001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84445001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162298</a>, <a href="https://bioportal.bioontology.org/search?q=C4085642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001387</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Angiokeratoma corporis diffusum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16652001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16652001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124464003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124464003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E75.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E75.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002986</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001071</a>]</span><br /> -
Dermal melanocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertrichosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29966009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29966009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271607001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271607001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</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">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Cerebral degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52522001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/418143002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">418143002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/331.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">331.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154671</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012444</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007313</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007313</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- No mucopolysacchariduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854897</a>]</span><br /> -
Beta-galactosidase-1 deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238025006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238025006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124465002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124465002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E75.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E75.19</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085131</a>, <a href="https://bioportal.bioontology.org/search?q=C2718068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2718068</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008166</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008166</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Vacuolated lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836855</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Death in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858430</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001522</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001522</a>]</span><br /> -
Allelic to mucopolysaccharidosis IVB<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the beta-1 galactosidase gene (GLB1, <a href="/entry/611458#0001">611458.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<p>A number sign (#) is used with this entry because GM1-gangliosidosis type I (GM1G1) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-galactosidase-1 (GLB1; <a href="/entry/611458">611458</a>) on chromosome 3p22.</p>
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<p>GM1-gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form (GM1G1), shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (GM1G2; <a href="/entry/230600">230600</a>), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (GM1G3; <a href="/entry/230650">230650</a>), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (<a href="#37" class="mim-tip-reference" title="Suzuki, Y., Oshima, A., Nanba, E. &lt;strong&gt;Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 2001. Pp. 3775-3809."None>Suzuki et al., 2001</a>).</p><p>See also Morquio B disease (<a href="/entry/253010">253010</a>), an allelic disorder with skeletal anomalies and no neurologic involvement.</p><p>The GM2-gangliosidoses include Tay-Sachs disease (<a href="/entry/272800">272800</a>) and Sandhoff disease (<a href="/entry/268800">268800</a>).</p>
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<p><a href="#20" class="mim-tip-reference" title="Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Lahey, M. E., Chadwick, D. L. &lt;strong&gt;Familial neurovisceral lipidosis. An analysis of eight cases of a syndrome previously reported as &#x27;Hurler-variant,&#x27; &#x27;pseudo-Hurler disease&#x27; and &#x27;Tay-Sachs disease with visceral involvement.&#x27;.&lt;/strong&gt; Am. J. Dis. Child. 108: 503-522, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14209687/&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;14209687&lt;/a&gt;]" pmid="14209687">Landing et al. (1964)</a> gave the first definitive description of this entity, which had variously been called 'Hurler variant,' 'pseudo-Hurler disease,' and 'Tay-Sachs disease with visceral involvement.' <a href="#27" class="mim-tip-reference" title="O&#x27;Brien, J. S., Stern, M. B., Landing, B. H., O&#x27;Brien, J. K., Donnell, G. N. &lt;strong&gt;Generalized gangliosidosis: another inborn error of ganglioside metabolism?&lt;/strong&gt; Am. J. Dis. Child. 109: 338-346, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14261015/&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;14261015&lt;/a&gt;]" pmid="14261015">O'Brien et al. (1965)</a> suggested the designation 'generalized gangliosidosis.' Clinical features of the infantile form include severe cerebral degeneration leading to death within the first 2 years of life; accumulation of ganglioside in neurons, hepatic, splenic and other histiocytes, and in renal glomerular epithelium; and the presence of skeletal deformities resembling Hurler disease (<a href="/entry/607014">607014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14261015+14209687" 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="#34" class="mim-tip-reference" title="Scott, C. R., Lagunoff, D., Trump, B. F. &lt;strong&gt;Familial neuro-visceral lipidosis.&lt;/strong&gt; J. Pediat. 71: 357-366, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4227214/&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;4227214&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(67)80295-6&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="4227214">Scott et al. (1967)</a> described affected sibs. Renal biopsy showed storage of an acid mucopolysaccharide rather than a glycolipid in vacuoles of the glomerular epithelium. The vacuoles were thought to represent lysosomes. The authors suggested that generalized gangliosidosis, which they also called 'neurovisceral lipidosis,' may be closely related to the Hurler syndrome, which it resembles clinically and radiologically. <a href="#11" class="mim-tip-reference" title="Grossman, H., Danes, B. S. &lt;strong&gt;Neurovisceral storage disease: features and mode of inheritance.&lt;/strong&gt; Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 149-153, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4231206/&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;4231206&lt;/a&gt;]" pmid="4231206">Grossman and Danes (1968)</a> demonstrated x-ray features resembling those of Hurler syndrome, increased synthesis and storage of mucopolysaccharides by skin fibroblasts, and marked metachromasia of fibroblasts in both parents. Autosomal recessive inheritance was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4231206+4227214" 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="#35" class="mim-tip-reference" title="Singer, H. S., Schafer, I. A. &lt;strong&gt;Clinical and enzymatic variations in Gm-1 generalized gangliosidosis.&lt;/strong&gt; Am. J. Hum. Genet. 24: 454-463, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5031983/&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;5031983&lt;/a&gt;]" pmid="5031983">Singer and Schafer (1972)</a> reported a patient who presented at age 3 months due to poor psychomotor development and hepatosplenomegaly. He was later found to have dysplastic changes in the long bones and vertebrae and cherry-red spot on the macula. He died at age 18 months. A female sib had died at age 18 months with autopsy findings consistent with generalized gangliosidosis. Detailed biochemical studies on beta-galactosidase obtained from liver tissue of this patient and a patient with juvenile type II disease suggested that the 2 disorders are related and likely allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5031983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fricker, H., O&#x27;Brien, J. S., Vassella, F., Gugler, E., Muhlethaler, J. P., Spycher, M., Wiesmann, U. N., Herschkowitz, N. &lt;strong&gt;Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.&lt;/strong&gt; J. Neurol. 213: 273-281, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/62026/&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;62026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00316267&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="62026">Fricker et al. (1976)</a> reported a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia, and decreased beta-galactosidase activity. She died at age 16 months. Postmortem examination showed generalized GM1-gangliosidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=62026" 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="Giugliani, R., Dutra, J. C., Pereira, M. L. S., Rotta, N., Drachler, M. L., Ohlweiller, L., Monteiro de Pina Neto, J., Pinheiro, C. E., Breda, D. J. &lt;strong&gt;GM(1) gangliosidosis: clinical and laboratory findings in eight families.&lt;/strong&gt; Hum. Genet. 70: 347-354, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3926630/&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;3926630&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00295376&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="3926630">Giugliani et al. (1985)</a> found that GM1-gangliosidosis was the inborn error of metabolism most often diagnosed on the Pediatrics Service in Porto Alegre, Brazil. From a study of 8 families, they suggested that increased fetal loss and macrosomy are features and that vacuolated lymphocytes are a useful diagnostic clue. Almost all patients had alteration in the lumbar vertebrae and cherry spots on the retina. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3926630" 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="#39" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. &lt;strong&gt;Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.&lt;/strong&gt; Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1907800/&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;1907800&lt;/a&gt;]" pmid="1907800">Yoshida et al. (1991)</a> reported 4 unrelated Japanese patients with the infantile form of GM1-gangliosidosis. Age at onset ranged from 3 to 5 months. All patients had psychomotor retardation or deterioration, macular cherry-red spots, hepatosplenomegaly, and dysostosis multiplex. Beta-galactosidase activity in leukocytes ranged from 0.65 to 1.58% of control values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" 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>GM1-Gangliosidosis with Cardiac Involvement</em></strong></p><p>
<a href="#12" class="mim-tip-reference" title="Hadley, R. N., Hagstrom, J. W. C. &lt;strong&gt;Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis).&lt;/strong&gt; Am. J. Clin. Path. 55: 237-240, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5541675/&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;5541675&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/ajcp/55.2.237&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="5541675">Hadley and Hagstrom (1971)</a> reported cardiomyopathy in an infant with GM1-gangliosidosis. EKG showed an incomplete bundle branch block and pathology showed vacuolated and hypertrophied myofibers. The mitral valve leaflets were thick and nodular with vacuolated histiocytes and fibrous tissue. The right coronary artery was partially occluded by an atherosclerotic plaque containing ballooned cells. <a href="#1" class="mim-tip-reference" title="Benson, P. F., Babarik, A., Brown, S. P., Mann, T. P. &lt;strong&gt;GM1-generalized gangliosidosis variant with cardiomegaly.&lt;/strong&gt; Postgrad. Med. J. 52: 159-165, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/131309/&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;131309&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/pgmj.52.605.159&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="131309">Benson et al. (1976)</a> reported cardiomegaly in association with GM1-gangliosidosis. <a href="#19" class="mim-tip-reference" title="Kohlschutter, A., Sieg, K., Schulte, F. J., Hayek, H. W., Goebel, H. H. &lt;strong&gt;Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.&lt;/strong&gt; Europ. J. Pediat. 139: 75-81, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7173264/&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;7173264&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00442086&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="7173264">Kohlschutter et al. (1982)</a> reported cardiomyopathy in an infant with beta-glucosidase deficiency who died of heart failure at age 8 months. <a href="#33" class="mim-tip-reference" title="Rosenberg, H., Frewen, T. C., Li, M. D., Gordon, B. L., Jung, J. H., Finlay, J. P., Roy, P. L., Grover, D., Spence, M. &lt;strong&gt;Cardiac involvement in diseases characterized by beta-galactosidase deficiency.&lt;/strong&gt; J. Pediat. 106: 78-80, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3917501/&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;3917501&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(85)80472-8&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="3917501">Rosenberg et al. (1985)</a> also described cardiac abnormalities in patients with beta-galactosidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3917501+7173264+131309+5541675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Beratis, N. G., Varvarigou-Frimas, A., Beratis, S., Sklower, S. L. &lt;strong&gt;Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.&lt;/strong&gt; Clin. Genet. 36: 59-64, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2504516/&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;2504516&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03367.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="2504516">Beratis et al. (1989)</a> described angiokeratoma corporis diffusum appearing before the age of 10 months in a boy with GM1-gangliosidosis. The angiokeratomas did not form clusters but were scattered widely over the body and proximal extremities. No angiokeratomas were observed on the penis and scrotum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2504516" 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="Hanson, M., Lupski, J. R., Hicks, J., Metry, D. &lt;strong&gt;Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.&lt;/strong&gt; Arch. Derm. 139: 916-920, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12873889/&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;12873889&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.139.7.916&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="12873889">Hanson et al. (2003)</a> described 2 infants with extensive dermal melanocytosis in association with GM1-gangliosidosis type I and Hurler syndrome, respectively. Clinically, dermal melanocytosis associated with lysosomal storage disease is characterized by extensive blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or 'progressive' behavior. A literature analysis revealed 37 additional cases. The most common lysosomal storage disease associated with dermal melanocytosis was Hurler syndrome (24 of 39 cases), followed by GM1-gangliosidosis (11 of 39 cases). <a href="#13" class="mim-tip-reference" title="Hanson, M., Lupski, J. R., Hicks, J., Metry, D. &lt;strong&gt;Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.&lt;/strong&gt; Arch. Derm. 139: 916-920, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12873889/&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;12873889&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archderm.139.7.916&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="12873889">Hanson et al. (2003)</a> concluded that in the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12873889" 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="#22" class="mim-tip-reference" title="Mishra, S., Pai, P., Uttarilli, A., Girisha, K. M. &lt;strong&gt;Mongolian spots in GM1 gangliosidosis: a pictorial report.&lt;/strong&gt; Clin. Dysmorph. 30: 6-9, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33038107/&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;33038107&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MCD.0000000000000353&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="33038107">Mishra et al. (2021)</a> reported 6 unrelated Indian patients, aged 3 to 15 months, with GM1G1. All of the patients had extensive dermal melanocytosis distributed over the ventral and dorsal surface of the trunk and extremities. The spots were present since birth and progressively increased in size, number, and pigmentation. All of the patients also had global developmental delay, coarse facial features, hepatosplenomegaly, hypotonia, and dysostosis multiplex. Four of the patients had retinal cherry-red spots. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33038107" 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="biochemicalFeatures" class="mim-anchor"></a>
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<strong>Biochemical Features</strong>
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<p><a href="#27" class="mim-tip-reference" title="O&#x27;Brien, J. S., Stern, M. B., Landing, B. H., O&#x27;Brien, J. K., Donnell, G. N. &lt;strong&gt;Generalized gangliosidosis: another inborn error of ganglioside metabolism?&lt;/strong&gt; Am. J. Dis. Child. 109: 338-346, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14261015/&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;14261015&lt;/a&gt;]" pmid="14261015">O'Brien et al. (1965)</a> identified the ganglioside stored in this disorder as a GM1 ganglioside distinct from that seen in Tay-Sachs disease. <a href="#31" class="mim-tip-reference" title="Okada, S., O&#x27;Brien, J. S. &lt;strong&gt;Generalized gangliosidosis: beta-galactosidase deficiency.&lt;/strong&gt; Science 160: 1002-1004, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5647842/&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;5647842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.160.3831.1002&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="5647842">Okada and O'Brien (1968)</a> demonstrated that beta-galactosidase deficiency is the fundamental defect in generalized gangliosidosis. <a href="#29" class="mim-tip-reference" title="O&#x27;Brien, J. S. &lt;strong&gt;Generalized gangliosidosis.&lt;/strong&gt; J. Pediat. 75: 167-186, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4240224/&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;4240224&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(69)80387-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4240224">O'Brien (1969)</a> found that all 3 isoenzymes of acid beta-galactosidase, A, B and C, were grossly deficient in all tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4240224+5647842+14261015" 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>Galjaard et al. (<a href="#8" class="mim-tip-reference" title="Galjaard, H., Hoogeveen, A., Keijzer, W., DeWit-Verbeek, H. A., Reuser, A. J. J. &lt;strong&gt;Different gene mutations in variants of Gm(1)- and Gm(2)-gangliosidosis demonstrated by enzyme analysis of (single) somatic hybrid cells.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(3): 150-156, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 320-326, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/812565/&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;812565&lt;/a&gt;]" pmid="812565">1975</a>, <a href="#7" class="mim-tip-reference" title="Galjaard, H., Hoogeveen, A., Keijzer, W., deWit-Verbeek, H. A., Reuser, A. J. J., Ho, M. W., Robinson, D. &lt;strong&gt;Genetic heterogeneity in GM1-gangliosidosis.&lt;/strong&gt; Nature 257: 60-62, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/808736/&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;808736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/257060a0&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="808736">1975</a>) studied complementation in cell hybrids between 4 types of Gm(1)-gangliosidosis. They concluded that types I and II involved the same locus. Complementation studies suggested that types III and IV may result from mutation at a second and separate locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=808736+812565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Horst, J., Kluge, F., Beyreuther, K., Gerok, W. &lt;strong&gt;Gene transfer to human cells: transducting phage lambda plac gene expression in GM-1-gangliosidosis fibroblasts.&lt;/strong&gt; Proc. Nat. Acad. Sci. 72: 3531-3535, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/242006/&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;242006&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.72.9.3531&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="242006">Horst et al. (1975)</a> demonstrated transfer of E. coli beta-galactosidase to gangliosidosis fibroblasts by phage transduction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=242006" 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="O&#x27;Brien, J. S. &lt;strong&gt;Molecular genetics of GM1 beta-galactosidase.&lt;/strong&gt; Clin. Genet. 8: 303-313, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/812620/&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;812620&lt;/a&gt;]" pmid="812620">O'Brien (1975)</a> suggested that the pleiotropic effects of mutations affecting a single locus for beta-galactosidase can be explained by the principle of one gene/one polypeptide/many substrates. Accordingly, different mutations in the same enzyme may have variable phenotypic effects since different mutations may impair one or more substrate specificities much more than others. Sixteen patients with beta-galactosidase deficiency and various phenotypes (i.e., types I, II, or III) were studied and all were found to have cross-reacting positive material to anti-beta-galactosidase antibody. However, all had decreased enzymatic activity. The findings suggested that the various forms of the disorder are due to a mutation at a common locus (reviewed by <a href="#26" class="mim-tip-reference" title="O&#x27;Brien, J. S., Norden, A. G. W. &lt;strong&gt;Nature of the mutation in adult beta-galactosidase deficient patients.&lt;/strong&gt; Am. J. Hum. Genet. 29: 184-190, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/322478/&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;322478&lt;/a&gt;]" pmid="322478">O'Brien and Norden, 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=322478+812620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Hoogeveen, A. T., Reuser, A. J. J., Kroos, M., Galjaard, H. &lt;strong&gt;GM1-gangliosidosis: defective recognition site on beta-galactosidase precursor.&lt;/strong&gt; J. Biol. Chem. 261: 5702-5704, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3084469/&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;3084469&lt;/a&gt;]" pmid="3084469">Hoogeveen et al. (1986)</a> showed that the mutations in the infantile and adult forms of GM1-gangliosidosis interfere with the phosphorylation of precursor beta-galactosidase. As a result, the precursor is secreted instead of being compartmentalized into the lysosomes and further processed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3084469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#23" class="mim-tip-reference" title="Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R. &lt;strong&gt;The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.&lt;/strong&gt; Hum. Genet. 139: 657-673, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32219518/&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;32219518&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-020-02153-3&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="32219518">Mohamed et al. (2020)</a> tested the effects of 2 derivatives of the chemical chaperone deoxygalactonojirimycin (DGJ), NB (butyl)-DGJ and NN (nonyl)-DGG, in fibroblasts from a patient with GM1-gangliosidosis type I and a homozygous mutation in the GJB gene (D151Y; <a href="/entry/611458#0029">611458.0029</a>). NN-DGJ demonstrated affinity to beta-galactosidase but did not show significant enhancement mutant enzyme activity. NB-DGJ both promoted mutant beta-galactosidase maturation and enhanced its enzyme activity in a dose-dependent manner. <a href="#23" class="mim-tip-reference" title="Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R. &lt;strong&gt;The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.&lt;/strong&gt; Hum. Genet. 139: 657-673, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32219518/&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;32219518&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-020-02153-3&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="32219518">Mohamed et al. (2020)</a> concluded that NB-DGJ could be a promising therapeutic chaperone for some GLB1 mutations that underlie infantile GM1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32219518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of GM1G1 in the families reported by <a href="#25" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. &lt;strong&gt;GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.&lt;/strong&gt; Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1909089/&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;1909089&lt;/a&gt;]" pmid="1909089">Nishimoto et al. (1991)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#39" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. &lt;strong&gt;Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.&lt;/strong&gt; Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1907800/&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;1907800&lt;/a&gt;]" pmid="1907800">Yoshida et al. (1991)</a> and <a href="#25" class="mim-tip-reference" title="Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K. &lt;strong&gt;GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.&lt;/strong&gt; Am. J. Hum. Genet. 49: 566-574, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1909089/&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;1909089&lt;/a&gt;]" pmid="1909089">Nishimoto et al. (1991)</a> independently identified mutations in the GLB1 gene in Japanese patients with various forms of GM1-gangliosidosis. Those with the infantile form had specific mutations (<a href="/entry/611458#0001">611458.0001</a>; <a href="/entry/611458#0002">611458.0002</a>; <a href="/entry/611458#0005">611458.0005</a>-<a href="/entry/611458#0007">611458.0007</a>). Residual enzyme activity in these patients ranged from 0.65 to 1.58% of control values (<a href="#39" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y. &lt;strong&gt;Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.&lt;/strong&gt; Am. J. Hum. Genet. 49: 435-442, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1907800/&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;1907800&lt;/a&gt;]" pmid="1907800">Yoshida et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1907800+1909089" 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 several Italian patients with infantile GM1-gangliosidosis with cardiac involvement, <a href="#24" class="mim-tip-reference" title="Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D&#x27;Azzo, A., Zammarchi, E. &lt;strong&gt;Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.&lt;/strong&gt; Hum. Mutat. 15: 354-366, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10737981/&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;10737981&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200004)15:4&lt;354::AID-HUMU8&gt;3.0.CO;2-L&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="10737981">Morrone et al. (2000)</a> identified homozygous mutations in the GLB1 gene (<a href="/entry/611458#0023">611458.0023</a>-<a href="/entry/611458#0026">611458.0026</a>). Cardiac involvement took the form of dilated and/or hypertrophic cardiomyopathy. All of these mutations were located in the GLB1 region common to the beta-galactosidase-1 lysosomal protein and ts nonlysosomal splice variant, elastin-binding protein (EBP) or S-Gal, and were shown to impair elastogenesis (<a href="#14" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. &lt;strong&gt;Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.&lt;/strong&gt; Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10841810/&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;10841810&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968&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="10841810">Hinek et al., 2000</a>). Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10841810+10737981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others. &lt;strong&gt;Recurrent and novel GLB1 mutations in India.&lt;/strong&gt; Gene 567: 173-181, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25936995/&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;25936995&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.gene.2015.04.078&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="25936995">Bidchol et al. (2015)</a> reported molecular findings in 46 Indian patients with GM1-gangliosidosis and 2 pairs of Indian parents who had carrier testing for the disorder. Thirty-three different mutations in the GLB1 gene were identified; 20 of the mutations were novel, including 12 missense, 4 splicing, 3 indels, and 1 nonsense. The most common mutations were c.75+2insT (14% of alleles) and L337P (10% of alleles). None of the novel mutations were observed in the dbSNP or 1000 Genomes Project databases. Forty-one of the patients had homozygous mutations, 25 of whom were born to consanguineous parents. Thirty-two of the patients had GM1-gangliosidosis type I, 13 had GM1-gangliosidosis type II, and 1 had GM1-gangliosidosis type III. No genotype-phenotype correlation was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25936995" 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 5-year-old Emirati boy, born to consanguineous parents, with GM1-gangliosidosis type I, <a href="#23" class="mim-tip-reference" title="Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R. &lt;strong&gt;The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.&lt;/strong&gt; Hum. Genet. 139: 657-673, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32219518/&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;32219518&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-020-02153-3&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="32219518">Mohamed et al. (2020)</a> identified a homozygous mutation in the GLB1 gene (D151Y; <a href="/entry/611458#0029">611458.0029</a>). Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the endoplasmic reticulum (ER). Enzyme function in the fibroblasts was partially rescued by the presence of glycerol, which acts as a chemical chaperone to rescue misfolded proteins retained in the ER, or reduced temperature, which assists with conformational rescue of misfolded proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32219518" 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="#14" class="mim-tip-reference" title="Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W. &lt;strong&gt;Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.&lt;/strong&gt; Am. J. Hum. Genet. 67: 23-36, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10841810/&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;10841810&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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/10.1086/302968&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="10841810">Hinek et al. (2000)</a> performed expression studies on 2 nonsense GLB1 mutations resulting in GM1-gangliosidosis with cardiac involvement (see, e.g., R351X; <a href="/entry/611458#0019">611458.0019</a>). Both mutations resulted in impairment of the lysosomal and EBP protein regions and showed no EBP expression. Functional studies indicated that mutants showed impaired secretion of tropoelastin and did not assemble elastic fibers, resulting in impaired elastogenesis. In these mutants, coculturing with Chinese hamster ovary cells transfected with S-Gal cDNA resulted in improved deposition of elastic fibers. In contrast, cells from patients with missense mutations resulting in lysosomal beta-galactosidase deficiency, but not in S-Gal deficiency, assembled normal elastic fibers. The study provided validating functional roles of S-Gal in elastogenesis and elucidated an association between impaired elastogenesis and the development of connective tissue disorders in patients with infantile GM1-gangliosidosis with cardiac involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10841810" 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="#4" class="mim-tip-reference" title="Caffey, J. P. &lt;strong&gt;Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy): prenatal and neonatal bone lesions and their early postnatal evolution.&lt;/strong&gt; Bull. Hosp. Joint Dis. 12: 38-66, 1951.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14905097/&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;14905097&lt;/a&gt;]" pmid="14905097">Caffey (1951)</a> probably described the first cases, interpreting them as gargoylism with prenatal onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14905097" 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="O&#x27;Brien, J. S., Storb, R., Raff, R. F., Harding, J., Appelbaum, F., Morimoto, S., Kishimoto, Y., Graham, T., Ahern-Rindell, A., O&#x27;Brien, S. L. &lt;strong&gt;Bone marrow transplantation in canine GM1 gangliosidosis.&lt;/strong&gt; Clin. Genet. 38: 274-280, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2125250/&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;2125250&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03581.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="2125250">O'Brien et al. (1990)</a> performed allogeneic bone marrow transplantation early in life in a case of canine GM1-gangliosidosis. Despite successful engraftment, no benefit was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2125250" 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="#32" class="mim-tip-reference" title="Prieur, D. J., Ahern-Rindell, A. J., Murnane, R. D. &lt;strong&gt;Animal model of human disease: ovine GM-1 gangliosidosis.&lt;/strong&gt; Am. J. Path. 139: 1511-1513, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1750516/&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;1750516&lt;/a&gt;]" pmid="1750516">Prieur et al. (1991)</a> described GM1-gangliosidosis in sheep in which deficiency of beta-galactosidase was coupled with a deficiency of alpha-neuraminidase. <a href="#36" class="mim-tip-reference" title="Skelly, B. J., Jeffrey, M., Franklin, R. J. M., Winchester, B. G. &lt;strong&gt;A new form of ovine GM1-gangliosidosis.&lt;/strong&gt; Acta Neuropath. 89: 374-379, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7610770/&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;7610770&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00309632&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="7610770">Skelly et al. (1995)</a> described a new form of ovine GM1-gangliosidosis in which there was a specific deficiency of lysosomal beta-D-galactosidase only. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7610770+1750516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Emery1971" class="mim-tip-reference" title="Emery, J. M., Green, W. R., Wyllie, R. G., Howell, R. R. &lt;strong&gt;Gm(1)-gangliosidosis. Ocular and pathological manifestations.&lt;/strong&gt; Arch. Ophthal. 85: 177-187, 1971.">Emery et al. (1971)</a>; <a href="#Goldman1981" class="mim-tip-reference" title="Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K. &lt;strong&gt;Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features.&lt;/strong&gt; Ann. Neurol. 9: 465-475, 1981.">Goldman et al. (1981)</a>; <a href="#Hoeksema1980" class="mim-tip-reference" title="Hoeksema, H. L., De Wit, J., Westerveld, A. &lt;strong&gt;The genetic defect in the various types of human beta-galactosidase deficiency.&lt;/strong&gt; Hum. Genet. 53: 241-247, 1980.">Hoeksema et al. (1980)</a>; <a href="#Kaback1973" class="mim-tip-reference" title="Kaback, M. M., Sloan, H. R., Sonneborn, M., Herndon, R. M., Percy, A. K. &lt;strong&gt;Gm(1) gangliosidosis type I: in utero detection and fetal manifestations.&lt;/strong&gt; J. Pediat. 82: 1037-1041, 1973.">Kaback et al. (1973)</a>; <a href="#MacBrinn1969" class="mim-tip-reference" title="MacBrinn, M. C., Okada, S., Ho, M. W., Hu, C. C., O&#x27;Brien, J. S. &lt;strong&gt;Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein.&lt;/strong&gt; Science 163: 946-947, 1969.">MacBrinn et al. (1969)</a>; <a href="#Thomas1969" class="mim-tip-reference" title="Thomas, G. H. &lt;strong&gt;Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.&lt;/strong&gt; J. Lab. Clin. Med. 74: 725-731, 1969.">Thomas (1969)</a>
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<a id="Benson1976" class="mim-anchor"></a>
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Benson, P. F., Babarik, A., Brown, S. P., Mann, T. P.
<strong>GM1-generalized gangliosidosis variant with cardiomegaly.</strong>
Postgrad. Med. J. 52: 159-165, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/131309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">131309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=131309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/pgmj.52.605.159" target="_blank">Full Text</a>]
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Beratis, N. G., Varvarigou-Frimas, A., Beratis, S., Sklower, S. L.
<strong>Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.</strong>
Clin. Genet. 36: 59-64, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2504516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2504516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2504516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03367.x" target="_blank">Full Text</a>]
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<a id="Bidchol2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others.
<strong>Recurrent and novel GLB1 mutations in India.</strong>
Gene 567: 173-181, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25936995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25936995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25936995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.gene.2015.04.078" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Caffey1951" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Caffey, J. P.
<strong>Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy): prenatal and neonatal bone lesions and their early postnatal evolution.</strong>
Bull. Hosp. Joint Dis. 12: 38-66, 1951.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14905097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14905097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14905097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Emery1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Emery, J. M., Green, W. R., Wyllie, R. G., Howell, R. R.
<strong>Gm(1)-gangliosidosis. Ocular and pathological manifestations.</strong>
Arch. Ophthal. 85: 177-187, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4250987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4250987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4250987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1971.00990050179011" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Fricker1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fricker, H., O'Brien, J. S., Vassella, F., Gugler, E., Muhlethaler, J. P., Spycher, M., Wiesmann, U. N., Herschkowitz, N.
<strong>Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.</strong>
J. Neurol. 213: 273-281, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/62026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">62026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=62026" 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/BF00316267" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Galjaard1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Galjaard, H., Hoogeveen, A., Keijzer, W., deWit-Verbeek, H. A., Reuser, A. J. J., Ho, M. W., Robinson, D.
<strong>Genetic heterogeneity in GM1-gangliosidosis.</strong>
Nature 257: 60-62, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/808736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">808736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=808736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/257060a0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Galjaard1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Galjaard, H., Hoogeveen, A., Keijzer, W., DeWit-Verbeek, H. A., Reuser, A. J. J.
<strong>Different gene mutations in variants of Gm(1)- and Gm(2)-gangliosidosis demonstrated by enzyme analysis of (single) somatic hybrid cells.</strong>
Birth Defects Orig. Art. Ser. XI(3): 150-156, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 320-326, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/812565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">812565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=812565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Giugliani1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giugliani, R., Dutra, J. C., Pereira, M. L. S., Rotta, N., Drachler, M. L., Ohlweiller, L., Monteiro de Pina Neto, J., Pinheiro, C. E., Breda, D. J.
<strong>GM(1) gangliosidosis: clinical and laboratory findings in eight families.</strong>
Hum. Genet. 70: 347-354, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3926630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3926630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3926630" 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/BF00295376" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Goldman1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K.
<strong>Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features.</strong>
Ann. Neurol. 9: 465-475, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6791574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6791574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6791574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410090509" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Grossman1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grossman, H., Danes, B. S.
<strong>Neurovisceral storage disease: features and mode of inheritance.</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 149-153, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4231206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4231206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4231206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Hadley1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hadley, R. N., Hagstrom, J. W. C.
<strong>Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis).</strong>
Am. J. Clin. Path. 55: 237-240, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5541675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5541675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5541675" 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/ajcp/55.2.237" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Hanson2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hanson, M., Lupski, J. R., Hicks, J., Metry, D.
<strong>Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.</strong>
Arch. Derm. 139: 916-920, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12873889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12873889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12873889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.139.7.916" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Hinek2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W.
<strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong>
Am. J. Hum. Genet. 67: 23-36, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10841810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10841810</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10841810[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=10841810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302968" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Hoeksema1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoeksema, H. L., De Wit, J., Westerveld, A.
<strong>The genetic defect in the various types of human beta-galactosidase deficiency.</strong>
Hum. Genet. 53: 241-247, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6766901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6766901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6766901" 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/BF00273505" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Hoogeveen1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoogeveen, A. T., Reuser, A. J. J., Kroos, M., Galjaard, H.
<strong>GM1-gangliosidosis: defective recognition site on beta-galactosidase precursor.</strong>
J. Biol. Chem. 261: 5702-5704, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3084469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3084469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3084469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Horst1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horst, J., Kluge, F., Beyreuther, K., Gerok, W.
<strong>Gene transfer to human cells: transducting phage lambda plac gene expression in GM-1-gangliosidosis fibroblasts.</strong>
Proc. Nat. Acad. Sci. 72: 3531-3535, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/242006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">242006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=242006" 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.72.9.3531" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Kaback1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaback, M. M., Sloan, H. R., Sonneborn, M., Herndon, R. M., Percy, A. K.
<strong>Gm(1) gangliosidosis type I: in utero detection and fetal manifestations.</strong>
J. Pediat. 82: 1037-1041, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4702895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4702895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4702895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(73)80438-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Kohlschutter1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kohlschutter, A., Sieg, K., Schulte, F. J., Hayek, H. W., Goebel, H. H.
<strong>Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.</strong>
Europ. J. Pediat. 139: 75-81, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7173264" 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/BF00442086" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Landing1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Lahey, M. E., Chadwick, D. L.
<strong>Familial neurovisceral lipidosis. An analysis of eight cases of a syndrome previously reported as 'Hurler-variant,' 'pseudo-Hurler disease' and 'Tay-Sachs disease with visceral involvement.'.</strong>
Am. J. Dis. Child. 108: 503-522, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14209687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14209687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14209687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="MacBrinn1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
MacBrinn, M. C., Okada, S., Ho, M. W., Hu, C. C., O'Brien, J. S.
<strong>Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein.</strong>
Science 163: 946-947, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4236799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4236799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4236799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.163.3870.946" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Mishra2021" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mishra, S., Pai, P., Uttarilli, A., Girisha, K. M.
<strong>Mongolian spots in GM1 gangliosidosis: a pictorial report.</strong>
Clin. Dysmorph. 30: 6-9, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33038107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33038107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33038107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/MCD.0000000000000353" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Mohamed2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R.
<strong>The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.</strong>
Hum. Genet. 139: 657-673, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32219518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32219518</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32219518" 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/s00439-020-02153-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Morrone2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E.
<strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong>
Hum. Mutat. 15: 354-366, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4&lt;354::AID-HUMU8&gt;3.0.CO;2-L" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Nishimoto1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K.
<strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong>
Am. J. Hum. Genet. 49: 566-574, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="O&#x27;Brien1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Brien, J. S., Norden, A. G. W.
<strong>Nature of the mutation in adult beta-galactosidase deficient patients.</strong>
Am. J. Hum. Genet. 29: 184-190, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/322478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">322478</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=322478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="O&#x27;Brien1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Brien, J. S., Stern, M. B., Landing, B. H., O'Brien, J. K., Donnell, G. N.
<strong>Generalized gangliosidosis: another inborn error of ganglioside metabolism?</strong>
Am. J. Dis. Child. 109: 338-346, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14261015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14261015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14261015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="O&#x27;Brien1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Brien, J. S., Storb, R., Raff, R. F., Harding, J., Appelbaum, F., Morimoto, S., Kishimoto, Y., Graham, T., Ahern-Rindell, A., O'Brien, S. L.
<strong>Bone marrow transplantation in canine GM1 gangliosidosis.</strong>
Clin. Genet. 38: 274-280, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2125250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2125250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2125250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03581.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="O&#x27;Brien1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Brien, J. S.
<strong>Generalized gangliosidosis.</strong>
J. Pediat. 75: 167-186, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4240224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4240224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4240224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(69)80387-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="O&#x27;Brien1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Brien, J. S.
<strong>Molecular genetics of GM1 beta-galactosidase.</strong>
Clin. Genet. 8: 303-313, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/812620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">812620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=812620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Okada1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Okada, S., O'Brien, J. S.
<strong>Generalized gangliosidosis: beta-galactosidase deficiency.</strong>
Science 160: 1002-1004, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5647842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5647842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5647842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.160.3831.1002" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
<a id="Prieur1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Prieur, D. J., Ahern-Rindell, A. J., Murnane, R. D.
<strong>Animal model of human disease: ovine GM-1 gangliosidosis.</strong>
Am. J. Path. 139: 1511-1513, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1750516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1750516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1750516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Rosenberg1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rosenberg, H., Frewen, T. C., Li, M. D., Gordon, B. L., Jung, J. H., Finlay, J. P., Roy, P. L., Grover, D., Spence, M.
<strong>Cardiac involvement in diseases characterized by beta-galactosidase deficiency.</strong>
J. Pediat. 106: 78-80, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3917501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3917501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3917501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(85)80472-8" target="_blank">Full Text</a>]
</p>
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<a id="34" class="mim-anchor"></a>
<a id="Scott1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Scott, C. R., Lagunoff, D., Trump, B. F.
<strong>Familial neuro-visceral lipidosis.</strong>
J. Pediat. 71: 357-366, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4227214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4227214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4227214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(67)80295-6" target="_blank">Full Text</a>]
</p>
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<a id="35" class="mim-anchor"></a>
<a id="Singer1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Singer, H. S., Schafer, I. A.
<strong>Clinical and enzymatic variations in Gm-1 generalized gangliosidosis.</strong>
Am. J. Hum. Genet. 24: 454-463, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5031983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5031983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5031983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="36" class="mim-anchor"></a>
<a id="Skelly1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skelly, B. J., Jeffrey, M., Franklin, R. J. M., Winchester, B. G.
<strong>A new form of ovine GM1-gangliosidosis.</strong>
Acta Neuropath. 89: 374-379, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7610770" 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/BF00309632" target="_blank">Full Text</a>]
</p>
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<a id="37" class="mim-anchor"></a>
<a id="Suzuki2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Suzuki, Y., Oshima, A., Nanba, E.
<strong>Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001. Pp. 3775-3809.
</p>
</div>
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<li>
<a id="38" class="mim-anchor"></a>
<a id="Thomas1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thomas, G. H.
<strong>Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.</strong>
J. Lab. Clin. Med. 74: 725-731, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5350201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5350201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5350201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="39" class="mim-anchor"></a>
<a id="Yoshida1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y.
<strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong>
Am. J. Hum. Genet. 49: 435-442, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1907800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1907800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1907800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 10/14/2021
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Hilary J. Vernon - updated : 05/21/2021<br>Cassandra L. Kniffin - reorganized : 10/1/2007<br>Cassandra L. Kniffin - updated : 9/27/2007<br>Victor A. McKusick - updated : 7/16/2004<br>Gary A. Bellus - updated : 9/3/2003<br>Victor A. McKusick - updated : 6/10/2003<br>Victor A. McKusick - updated : 9/5/2001<br>Ada Hamosh - updated : 10/31/2000<br>George E. Tiller - updated : 10/17/2000<br>Victor A. McKusick - updated : 9/11/2000<br>Victor A. McKusick - updated : 4/19/2000<br>Victor A. McKusick - updated : 4/15/1997<br>Orest Hurko - updated : 6/13/1995
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/24/1986
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carol : 03/20/2024
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<h3>
<span class="mim-font">
<strong>#</strong> 230500
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<h3>
<span class="mim-font">
GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I<br />
GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM<br />
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1<br />
BETA-GALACTOSIDASE-1 DEFICIENCY<br />
GLB1 DEFICIENCY
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<p>
<span class="mim-font">
Other entities represented in this entry:
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<span class="h3 mim-font">
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
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<span class="h4 mim-font">
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
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<strong>SNOMEDCT:</strong> 238025006, 238026007; &nbsp;
<strong>ICD10CM:</strong> E75.19; &nbsp;
<strong>ORPHA:</strong> 354, 79255; &nbsp;
<strong>DO:</strong> 0080502; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
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<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
3p22.3
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<td>
<span class="mim-font">
GM1-gangliosidosis, type I
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<td>
<span class="mim-font">
230500
</span>
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<td>
<span class="mim-font">
Autosomal recessive
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<td>
<span class="mim-font">
3
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<td>
<span class="mim-font">
GLB1
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<td>
<span class="mim-font">
611458
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</tbody>
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because GM1-gangliosidosis type I (GM1G1) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-galactosidase-1 (GLB1; 611458) on chromosome 3p22.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
<p>GM1-gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form (GM1G1), shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (GM1G2; 230600), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (GM1G3; 230650), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).</p><p>See also Morquio B disease (253010), an allelic disorder with skeletal anomalies and no neurologic involvement.</p><p>The GM2-gangliosidoses include Tay-Sachs disease (272800) and Sandhoff disease (268800).</p>
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<div>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Landing et al. (1964) gave the first definitive description of this entity, which had variously been called 'Hurler variant,' 'pseudo-Hurler disease,' and 'Tay-Sachs disease with visceral involvement.' O'Brien et al. (1965) suggested the designation 'generalized gangliosidosis.' Clinical features of the infantile form include severe cerebral degeneration leading to death within the first 2 years of life; accumulation of ganglioside in neurons, hepatic, splenic and other histiocytes, and in renal glomerular epithelium; and the presence of skeletal deformities resembling Hurler disease (607014). </p><p>Scott et al. (1967) described affected sibs. Renal biopsy showed storage of an acid mucopolysaccharide rather than a glycolipid in vacuoles of the glomerular epithelium. The vacuoles were thought to represent lysosomes. The authors suggested that generalized gangliosidosis, which they also called 'neurovisceral lipidosis,' may be closely related to the Hurler syndrome, which it resembles clinically and radiologically. Grossman and Danes (1968) demonstrated x-ray features resembling those of Hurler syndrome, increased synthesis and storage of mucopolysaccharides by skin fibroblasts, and marked metachromasia of fibroblasts in both parents. Autosomal recessive inheritance was suggested. </p><p>Singer and Schafer (1972) reported a patient who presented at age 3 months due to poor psychomotor development and hepatosplenomegaly. He was later found to have dysplastic changes in the long bones and vertebrae and cherry-red spot on the macula. He died at age 18 months. A female sib had died at age 18 months with autopsy findings consistent with generalized gangliosidosis. Detailed biochemical studies on beta-galactosidase obtained from liver tissue of this patient and a patient with juvenile type II disease suggested that the 2 disorders are related and likely allelic. </p><p>Fricker et al. (1976) reported a 3-month-old girl with rapidly progressive psychomotor retardation, hepatomegaly, vacuolated lymphocytes, minimal bone dysplasia, and decreased beta-galactosidase activity. She died at age 16 months. Postmortem examination showed generalized GM1-gangliosidosis. </p><p>Giugliani et al. (1985) found that GM1-gangliosidosis was the inborn error of metabolism most often diagnosed on the Pediatrics Service in Porto Alegre, Brazil. From a study of 8 families, they suggested that increased fetal loss and macrosomy are features and that vacuolated lymphocytes are a useful diagnostic clue. Almost all patients had alteration in the lumbar vertebrae and cherry spots on the retina. </p><p>Yoshida et al. (1991) reported 4 unrelated Japanese patients with the infantile form of GM1-gangliosidosis. Age at onset ranged from 3 to 5 months. All patients had psychomotor retardation or deterioration, macular cherry-red spots, hepatosplenomegaly, and dysostosis multiplex. Beta-galactosidase activity in leukocytes ranged from 0.65 to 1.58% of control values. </p><p><strong><em>GM1-Gangliosidosis with Cardiac Involvement</em></strong></p><p>
Hadley and Hagstrom (1971) reported cardiomyopathy in an infant with GM1-gangliosidosis. EKG showed an incomplete bundle branch block and pathology showed vacuolated and hypertrophied myofibers. The mitral valve leaflets were thick and nodular with vacuolated histiocytes and fibrous tissue. The right coronary artery was partially occluded by an atherosclerotic plaque containing ballooned cells. Benson et al. (1976) reported cardiomegaly in association with GM1-gangliosidosis. Kohlschutter et al. (1982) reported cardiomyopathy in an infant with beta-glucosidase deficiency who died of heart failure at age 8 months. Rosenberg et al. (1985) also described cardiac abnormalities in patients with beta-galactosidase deficiency. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Beratis et al. (1989) described angiokeratoma corporis diffusum appearing before the age of 10 months in a boy with GM1-gangliosidosis. The angiokeratomas did not form clusters but were scattered widely over the body and proximal extremities. No angiokeratomas were observed on the penis and scrotum. </p><p>Hanson et al. (2003) described 2 infants with extensive dermal melanocytosis in association with GM1-gangliosidosis type I and Hurler syndrome, respectively. Clinically, dermal melanocytosis associated with lysosomal storage disease is characterized by extensive blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or 'progressive' behavior. A literature analysis revealed 37 additional cases. The most common lysosomal storage disease associated with dermal melanocytosis was Hurler syndrome (24 of 39 cases), followed by GM1-gangliosidosis (11 of 39 cases). Hanson et al. (2003) concluded that in the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. </p><p>Mishra et al. (2021) reported 6 unrelated Indian patients, aged 3 to 15 months, with GM1G1. All of the patients had extensive dermal melanocytosis distributed over the ventral and dorsal surface of the trunk and extremities. The spots were present since birth and progressively increased in size, number, and pigmentation. All of the patients also had global developmental delay, coarse facial features, hepatosplenomegaly, hypotonia, and dysostosis multiplex. Four of the patients had retinal cherry-red spots. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>O'Brien et al. (1965) identified the ganglioside stored in this disorder as a GM1 ganglioside distinct from that seen in Tay-Sachs disease. Okada and O'Brien (1968) demonstrated that beta-galactosidase deficiency is the fundamental defect in generalized gangliosidosis. O'Brien (1969) found that all 3 isoenzymes of acid beta-galactosidase, A, B and C, were grossly deficient in all tissues. </p><p>Galjaard et al. (1975, 1975) studied complementation in cell hybrids between 4 types of Gm(1)-gangliosidosis. They concluded that types I and II involved the same locus. Complementation studies suggested that types III and IV may result from mutation at a second and separate locus. </p><p>Horst et al. (1975) demonstrated transfer of E. coli beta-galactosidase to gangliosidosis fibroblasts by phage transduction. </p><p>O'Brien (1975) suggested that the pleiotropic effects of mutations affecting a single locus for beta-galactosidase can be explained by the principle of one gene/one polypeptide/many substrates. Accordingly, different mutations in the same enzyme may have variable phenotypic effects since different mutations may impair one or more substrate specificities much more than others. Sixteen patients with beta-galactosidase deficiency and various phenotypes (i.e., types I, II, or III) were studied and all were found to have cross-reacting positive material to anti-beta-galactosidase antibody. However, all had decreased enzymatic activity. The findings suggested that the various forms of the disorder are due to a mutation at a common locus (reviewed by O'Brien and Norden, 1977). </p><p>Hoogeveen et al. (1986) showed that the mutations in the infantile and adult forms of GM1-gangliosidosis interfere with the phosphorylation of precursor beta-galactosidase. As a result, the precursor is secreted instead of being compartmentalized into the lysosomes and further processed. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mohamed et al. (2020) tested the effects of 2 derivatives of the chemical chaperone deoxygalactonojirimycin (DGJ), NB (butyl)-DGJ and NN (nonyl)-DGG, in fibroblasts from a patient with GM1-gangliosidosis type I and a homozygous mutation in the GJB gene (D151Y; 611458.0029). NN-DGJ demonstrated affinity to beta-galactosidase but did not show significant enhancement mutant enzyme activity. NB-DGJ both promoted mutant beta-galactosidase maturation and enhanced its enzyme activity in a dose-dependent manner. Mohamed et al. (2020) concluded that NB-DGJ could be a promising therapeutic chaperone for some GLB1 mutations that underlie infantile GM1. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of GM1G1 in the families reported by Nishimoto et al. (1991) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Yoshida et al. (1991) and Nishimoto et al. (1991) independently identified mutations in the GLB1 gene in Japanese patients with various forms of GM1-gangliosidosis. Those with the infantile form had specific mutations (611458.0001; 611458.0002; 611458.0005-611458.0007). Residual enzyme activity in these patients ranged from 0.65 to 1.58% of control values (Yoshida et al., 1991). </p><p>In several Italian patients with infantile GM1-gangliosidosis with cardiac involvement, Morrone et al. (2000) identified homozygous mutations in the GLB1 gene (611458.0023-611458.0026). Cardiac involvement took the form of dilated and/or hypertrophic cardiomyopathy. All of these mutations were located in the GLB1 region common to the beta-galactosidase-1 lysosomal protein and ts nonlysosomal splice variant, elastin-binding protein (EBP) or S-Gal, and were shown to impair elastogenesis (Hinek et al., 2000). Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations. </p><p>Bidchol et al. (2015) reported molecular findings in 46 Indian patients with GM1-gangliosidosis and 2 pairs of Indian parents who had carrier testing for the disorder. Thirty-three different mutations in the GLB1 gene were identified; 20 of the mutations were novel, including 12 missense, 4 splicing, 3 indels, and 1 nonsense. The most common mutations were c.75+2insT (14% of alleles) and L337P (10% of alleles). None of the novel mutations were observed in the dbSNP or 1000 Genomes Project databases. Forty-one of the patients had homozygous mutations, 25 of whom were born to consanguineous parents. Thirty-two of the patients had GM1-gangliosidosis type I, 13 had GM1-gangliosidosis type II, and 1 had GM1-gangliosidosis type III. No genotype-phenotype correlation was observed. </p><p>In a 5-year-old Emirati boy, born to consanguineous parents, with GM1-gangliosidosis type I, Mohamed et al. (2020) identified a homozygous mutation in the GLB1 gene (D151Y; 611458.0029). Testing in patient fibroblasts showed less than 1% residual beta-galactosidase enzyme activity. Immunofluorescence staining in patient fibroblasts demonstrated that the mutant protein was improperly trafficked and processed, resulting in trapping in the endoplasmic reticulum (ER). Enzyme function in the fibroblasts was partially rescued by the presence of glycerol, which acts as a chemical chaperone to rescue misfolded proteins retained in the ER, or reduced temperature, which assists with conformational rescue of misfolded proteins. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hinek et al. (2000) performed expression studies on 2 nonsense GLB1 mutations resulting in GM1-gangliosidosis with cardiac involvement (see, e.g., R351X; 611458.0019). Both mutations resulted in impairment of the lysosomal and EBP protein regions and showed no EBP expression. Functional studies indicated that mutants showed impaired secretion of tropoelastin and did not assemble elastic fibers, resulting in impaired elastogenesis. In these mutants, coculturing with Chinese hamster ovary cells transfected with S-Gal cDNA resulted in improved deposition of elastic fibers. In contrast, cells from patients with missense mutations resulting in lysosomal beta-galactosidase deficiency, but not in S-Gal deficiency, assembled normal elastic fibers. The study provided validating functional roles of S-Gal in elastogenesis and elucidated an association between impaired elastogenesis and the development of connective tissue disorders in patients with infantile GM1-gangliosidosis with cardiac involvement. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Caffey (1951) probably described the first cases, interpreting them as gargoylism with prenatal onset. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>O'Brien et al. (1990) performed allogeneic bone marrow transplantation early in life in a case of canine GM1-gangliosidosis. Despite successful engraftment, no benefit was found. </p><p>Prieur et al. (1991) described GM1-gangliosidosis in sheep in which deficiency of beta-galactosidase was coupled with a deficiency of alpha-neuraminidase. Skelly et al. (1995) described a new form of ovine GM1-gangliosidosis in which there was a specific deficiency of lysosomal beta-D-galactosidase only. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Emery et al. (1971); Goldman et al. (1981); Hoeksema et al. (1980);
Kaback et al. (1973); MacBrinn et al. (1969); Thomas (1969)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Benson, P. F., Babarik, A., Brown, S. P., Mann, T. P.
<strong>GM1-generalized gangliosidosis variant with cardiomegaly.</strong>
Postgrad. Med. J. 52: 159-165, 1976.
[PubMed: 131309]
[Full Text: https://doi.org/10.1136/pgmj.52.605.159]
</p>
</li>
<li>
<p class="mim-text-font">
Beratis, N. G., Varvarigou-Frimas, A., Beratis, S., Sklower, S. L.
<strong>Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.</strong>
Clin. Genet. 36: 59-64, 1989.
[PubMed: 2504516]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03367.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., and 18 others.
<strong>Recurrent and novel GLB1 mutations in India.</strong>
Gene 567: 173-181, 2015.
[PubMed: 25936995]
[Full Text: https://doi.org/10.1016/j.gene.2015.04.078]
</p>
</li>
<li>
<p class="mim-text-font">
Caffey, J. P.
<strong>Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy): prenatal and neonatal bone lesions and their early postnatal evolution.</strong>
Bull. Hosp. Joint Dis. 12: 38-66, 1951.
[PubMed: 14905097]
</p>
</li>
<li>
<p class="mim-text-font">
Emery, J. M., Green, W. R., Wyllie, R. G., Howell, R. R.
<strong>Gm(1)-gangliosidosis. Ocular and pathological manifestations.</strong>
Arch. Ophthal. 85: 177-187, 1971.
[PubMed: 4250987]
[Full Text: https://doi.org/10.1001/archopht.1971.00990050179011]
</p>
</li>
<li>
<p class="mim-text-font">
Fricker, H., O'Brien, J. S., Vassella, F., Gugler, E., Muhlethaler, J. P., Spycher, M., Wiesmann, U. N., Herschkowitz, N.
<strong>Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia.</strong>
J. Neurol. 213: 273-281, 1976.
[PubMed: 62026]
[Full Text: https://doi.org/10.1007/BF00316267]
</p>
</li>
<li>
<p class="mim-text-font">
Galjaard, H., Hoogeveen, A., Keijzer, W., deWit-Verbeek, H. A., Reuser, A. J. J., Ho, M. W., Robinson, D.
<strong>Genetic heterogeneity in GM1-gangliosidosis.</strong>
Nature 257: 60-62, 1975.
[PubMed: 808736]
[Full Text: https://doi.org/10.1038/257060a0]
</p>
</li>
<li>
<p class="mim-text-font">
Galjaard, H., Hoogeveen, A., Keijzer, W., DeWit-Verbeek, H. A., Reuser, A. J. J.
<strong>Different gene mutations in variants of Gm(1)- and Gm(2)-gangliosidosis demonstrated by enzyme analysis of (single) somatic hybrid cells.</strong>
Birth Defects Orig. Art. Ser. XI(3): 150-156, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 320-326, 1975.
[PubMed: 812565]
</p>
</li>
<li>
<p class="mim-text-font">
Giugliani, R., Dutra, J. C., Pereira, M. L. S., Rotta, N., Drachler, M. L., Ohlweiller, L., Monteiro de Pina Neto, J., Pinheiro, C. E., Breda, D. J.
<strong>GM(1) gangliosidosis: clinical and laboratory findings in eight families.</strong>
Hum. Genet. 70: 347-354, 1985.
[PubMed: 3926630]
[Full Text: https://doi.org/10.1007/BF00295376]
</p>
</li>
<li>
<p class="mim-text-font">
Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K.
<strong>Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features.</strong>
Ann. Neurol. 9: 465-475, 1981.
[PubMed: 6791574]
[Full Text: https://doi.org/10.1002/ana.410090509]
</p>
</li>
<li>
<p class="mim-text-font">
Grossman, H., Danes, B. S.
<strong>Neurovisceral storage disease: features and mode of inheritance.</strong>
Am. J. Roentgen. Radium Ther. Nucl. Med. 103: 149-153, 1968.
[PubMed: 4231206]
</p>
</li>
<li>
<p class="mim-text-font">
Hadley, R. N., Hagstrom, J. W. C.
<strong>Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis).</strong>
Am. J. Clin. Path. 55: 237-240, 1971.
[PubMed: 5541675]
[Full Text: https://doi.org/10.1093/ajcp/55.2.237]
</p>
</li>
<li>
<p class="mim-text-font">
Hanson, M., Lupski, J. R., Hicks, J., Metry, D.
<strong>Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.</strong>
Arch. Derm. 139: 916-920, 2003.
[PubMed: 12873889]
[Full Text: https://doi.org/10.1001/archderm.139.7.916]
</p>
</li>
<li>
<p class="mim-text-font">
Hinek, A., Zhang, S., Smith, A. C., Callahan, J. W.
<strong>Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.</strong>
Am. J. Hum. Genet. 67: 23-36, 2000.
[PubMed: 10841810]
[Full Text: https://doi.org/10.1086/302968]
</p>
</li>
<li>
<p class="mim-text-font">
Hoeksema, H. L., De Wit, J., Westerveld, A.
<strong>The genetic defect in the various types of human beta-galactosidase deficiency.</strong>
Hum. Genet. 53: 241-247, 1980.
[PubMed: 6766901]
[Full Text: https://doi.org/10.1007/BF00273505]
</p>
</li>
<li>
<p class="mim-text-font">
Hoogeveen, A. T., Reuser, A. J. J., Kroos, M., Galjaard, H.
<strong>GM1-gangliosidosis: defective recognition site on beta-galactosidase precursor.</strong>
J. Biol. Chem. 261: 5702-5704, 1986.
[PubMed: 3084469]
</p>
</li>
<li>
<p class="mim-text-font">
Horst, J., Kluge, F., Beyreuther, K., Gerok, W.
<strong>Gene transfer to human cells: transducting phage lambda plac gene expression in GM-1-gangliosidosis fibroblasts.</strong>
Proc. Nat. Acad. Sci. 72: 3531-3535, 1975.
[PubMed: 242006]
[Full Text: https://doi.org/10.1073/pnas.72.9.3531]
</p>
</li>
<li>
<p class="mim-text-font">
Kaback, M. M., Sloan, H. R., Sonneborn, M., Herndon, R. M., Percy, A. K.
<strong>Gm(1) gangliosidosis type I: in utero detection and fetal manifestations.</strong>
J. Pediat. 82: 1037-1041, 1973.
[PubMed: 4702895]
[Full Text: https://doi.org/10.1016/s0022-3476(73)80438-x]
</p>
</li>
<li>
<p class="mim-text-font">
Kohlschutter, A., Sieg, K., Schulte, F. J., Hayek, H. W., Goebel, H. H.
<strong>Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.</strong>
Europ. J. Pediat. 139: 75-81, 1982.
[PubMed: 7173264]
[Full Text: https://doi.org/10.1007/BF00442086]
</p>
</li>
<li>
<p class="mim-text-font">
Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Lahey, M. E., Chadwick, D. L.
<strong>Familial neurovisceral lipidosis. An analysis of eight cases of a syndrome previously reported as &#x27;Hurler-variant,&#x27; &#x27;pseudo-Hurler disease&#x27; and &#x27;Tay-Sachs disease with visceral involvement.&#x27;.</strong>
Am. J. Dis. Child. 108: 503-522, 1964.
[PubMed: 14209687]
</p>
</li>
<li>
<p class="mim-text-font">
MacBrinn, M. C., Okada, S., Ho, M. W., Hu, C. C., O'Brien, J. S.
<strong>Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein.</strong>
Science 163: 946-947, 1969.
[PubMed: 4236799]
[Full Text: https://doi.org/10.1126/science.163.3870.946]
</p>
</li>
<li>
<p class="mim-text-font">
Mishra, S., Pai, P., Uttarilli, A., Girisha, K. M.
<strong>Mongolian spots in GM1 gangliosidosis: a pictorial report.</strong>
Clin. Dysmorph. 30: 6-9, 2021.
[PubMed: 33038107]
[Full Text: https://doi.org/10.1097/MCD.0000000000000353]
</p>
</li>
<li>
<p class="mim-text-font">
Mohamed, F. W., Al Sorkhy, M., Ghattas, M. A., Al-Gazali, K., Al-Dirbashi, O., Al-Jasmi, F., Ali, B. R.
<strong>The pharmacological chaperone N-n-deoxygalactonojirimycin enhances beta-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.</strong>
Hum. Genet. 139: 657-673, 2020.
[PubMed: 32219518]
[Full Text: https://doi.org/10.1007/s00439-020-02153-3]
</p>
</li>
<li>
<p class="mim-text-font">
Morrone, A., Bardelli, T., Donati, M. A., Giorgi, M., Di Rocco, M., Gatti, R., Parini, R., Ricci, R., Taddeucci, G., D'Azzo, A., Zammarchi, E.
<strong>Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.</strong>
Hum. Mutat. 15: 354-366, 2000.
[PubMed: 10737981]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(200004)15:4&lt;354::AID-HUMU8&gt;3.0.CO;2-L]
</p>
</li>
<li>
<p class="mim-text-font">
Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K.
<strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong>
Am. J. Hum. Genet. 49: 566-574, 1991.
[PubMed: 1909089]
</p>
</li>
<li>
<p class="mim-text-font">
O'Brien, J. S., Norden, A. G. W.
<strong>Nature of the mutation in adult beta-galactosidase deficient patients.</strong>
Am. J. Hum. Genet. 29: 184-190, 1977.
[PubMed: 322478]
</p>
</li>
<li>
<p class="mim-text-font">
O'Brien, J. S., Stern, M. B., Landing, B. H., O'Brien, J. K., Donnell, G. N.
<strong>Generalized gangliosidosis: another inborn error of ganglioside metabolism?</strong>
Am. J. Dis. Child. 109: 338-346, 1965.
[PubMed: 14261015]
</p>
</li>
<li>
<p class="mim-text-font">
O'Brien, J. S., Storb, R., Raff, R. F., Harding, J., Appelbaum, F., Morimoto, S., Kishimoto, Y., Graham, T., Ahern-Rindell, A., O'Brien, S. L.
<strong>Bone marrow transplantation in canine GM1 gangliosidosis.</strong>
Clin. Genet. 38: 274-280, 1990.
[PubMed: 2125250]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03581.x]
</p>
</li>
<li>
<p class="mim-text-font">
O'Brien, J. S.
<strong>Generalized gangliosidosis.</strong>
J. Pediat. 75: 167-186, 1969.
[PubMed: 4240224]
[Full Text: https://doi.org/10.1016/s0022-3476(69)80387-2]
</p>
</li>
<li>
<p class="mim-text-font">
O'Brien, J. S.
<strong>Molecular genetics of GM1 beta-galactosidase.</strong>
Clin. Genet. 8: 303-313, 1975.
[PubMed: 812620]
</p>
</li>
<li>
<p class="mim-text-font">
Okada, S., O'Brien, J. S.
<strong>Generalized gangliosidosis: beta-galactosidase deficiency.</strong>
Science 160: 1002-1004, 1968.
[PubMed: 5647842]
[Full Text: https://doi.org/10.1126/science.160.3831.1002]
</p>
</li>
<li>
<p class="mim-text-font">
Prieur, D. J., Ahern-Rindell, A. J., Murnane, R. D.
<strong>Animal model of human disease: ovine GM-1 gangliosidosis.</strong>
Am. J. Path. 139: 1511-1513, 1991.
[PubMed: 1750516]
</p>
</li>
<li>
<p class="mim-text-font">
Rosenberg, H., Frewen, T. C., Li, M. D., Gordon, B. L., Jung, J. H., Finlay, J. P., Roy, P. L., Grover, D., Spence, M.
<strong>Cardiac involvement in diseases characterized by beta-galactosidase deficiency.</strong>
J. Pediat. 106: 78-80, 1985.
[PubMed: 3917501]
[Full Text: https://doi.org/10.1016/s0022-3476(85)80472-8]
</p>
</li>
<li>
<p class="mim-text-font">
Scott, C. R., Lagunoff, D., Trump, B. F.
<strong>Familial neuro-visceral lipidosis.</strong>
J. Pediat. 71: 357-366, 1967.
[PubMed: 4227214]
[Full Text: https://doi.org/10.1016/s0022-3476(67)80295-6]
</p>
</li>
<li>
<p class="mim-text-font">
Singer, H. S., Schafer, I. A.
<strong>Clinical and enzymatic variations in Gm-1 generalized gangliosidosis.</strong>
Am. J. Hum. Genet. 24: 454-463, 1972.
[PubMed: 5031983]
</p>
</li>
<li>
<p class="mim-text-font">
Skelly, B. J., Jeffrey, M., Franklin, R. J. M., Winchester, B. G.
<strong>A new form of ovine GM1-gangliosidosis.</strong>
Acta Neuropath. 89: 374-379, 1995.
[PubMed: 7610770]
[Full Text: https://doi.org/10.1007/BF00309632]
</p>
</li>
<li>
<p class="mim-text-font">
Suzuki, Y., Oshima, A., Nanba, E.
<strong>Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
New York: McGraw-Hill (pub.) 2001. Pp. 3775-3809.
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, G. H.
<strong>Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.</strong>
J. Lab. Clin. Med. 74: 725-731, 1969.
[PubMed: 5350201]
</p>
</li>
<li>
<p class="mim-text-font">
Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y.
<strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong>
Am. J. Hum. Genet. 49: 435-442, 1991.
[PubMed: 1907800]
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