3298 lines
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Entry
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- #230650 - GM1-GANGLIOSIDOSIS, TYPE III; GM1G3
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- OMIM
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<p>
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<span class="h4">#230650</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/230650"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=GM1-GANGLIOSIDOSIS, TYPE III" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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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 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11283&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">GM1 gangliosidosis type 3 </a></div>
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</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><a href="https://www.diseaseinfosearch.org/x/2985" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/gm1-gangliosidosis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=230650[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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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=79257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">GM1 gangliosidosis type 3</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080489" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/230650" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://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>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080489" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238027003<br />
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<strong>ORPHA:</strong> 354, 79257<br />
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<strong>DO:</strong> 0080489<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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230650
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GM1-GANGLIOSIDOSIS, TYPE III; GM1G3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
|
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GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE<br />
|
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GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<th>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<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 III
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230650"> 230650 </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>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/230650" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/230650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/230650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Normal facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837086</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No cherry red spots <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856556</a>]</span><br /> -
|
|
Corneal clouding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521719</a>, <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- No hepatomegaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856554</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">
|
|
|
|
- No splenomegaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856555</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">
|
|
|
|
- Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br /> -
|
|
Mild anterior beaking of lumbar vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008430</a>]</span><br /> -
|
|
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 />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Pelvis </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Hypoplastic acetabulae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003274</a>]</span><br /> -
|
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Flat femoral heads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856558</a>]</span><br /> -
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Flared iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> NEUROLOGIC </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Normal early development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856550</a>]</span><br /> -
|
|
Mental retardation, mild <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span><br /> -
|
|
Cerebral atrophy, mild, diffuse <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856551</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
|
|
No myoclonus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856552</a>]</span><br /> -
|
|
No seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370994008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370994008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1299590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1299590</a>]</span><br /> -
|
|
Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> VOICE </strong>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Slurred speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289195008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289195008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEMATOLOGY </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Foam cells (bone marrow) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856560</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004333</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16980002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003651</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856559&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856559</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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
|
- Onset of disease 3-30 years<br />
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Caused by mutation in the beta-1-galactosidase gene (GLB1, <a href="/entry/611458#0004">611458.0004</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because type III GM1-gangliosidosis (GM1G3) 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><p>For a general discussion of classification and phenotypic heterogeneity of GM1-gangliosidosis, see <a href="/entry/230500">230500</a>.</p>
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<p>GM1-gangliosidosis type III (GM1G3) is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (<a href="/entry/230600">230600</a>). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (<a href="#18" class="mim-tip-reference" title="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."None>Suzuki et al., 2001</a>).</p>
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<p><a href="#21" class="mim-tip-reference" title="Wenger, D. A., Goodman, S. I., Myers, G. B. <strong>Beta-galactosidase deficiency in young adults. (Letter)</strong> Lancet 304: 1319-1320, 1974. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4139552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4139552</a>] [<a href="https://doi.org/10.1016/s0140-6736(74)90173-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4139552">Wenger et al. (1974)</a> described beta-galactosidase deficiency in young adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4139552" 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="Loonen, M. C. B., van de Lugt, L., Franke, C. L. <strong>Angiokeratoma corporis diffusum and lysosomal enzyme deficiency. (Letter)</strong> Lancet 304: 785 only, 1974. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4143049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4143049</a>] [<a href="https://doi.org/10.1016/s0140-6736(74)90984-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4143049">Loonen et al. (1974)</a> reported a patient with type III GM1-gangliosidosis who had angiokeratoma beginning at age 8 years, cerebellar dysfunction and diminishing vision beginning at age 16, and myoclonic fits, intellectual deterioration and coarsening of the face beginning at age 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4143049" 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="Suzuki, Y., Nakamura, N., Fukuoka, K., Shimada, Y., Uono, M. <strong>Beta-galactosidase deficiency in juvenile and adult patients: report of six Japanese cases and review of literature.</strong> Hum. Genet. 36: 219-229, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/404231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">404231</a>] [<a href="https://doi.org/10.1007/BF00273261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="404231">Suzuki et al. (1977)</a> reported 2 Japanese sibs, aged 34 and 30 years, respectively, with the adult form of GM1-gangliosidosis. They had progressive pyramidal and extrapyramidal disease with generalized muscle atrophy without dysmorphism or macular cherry-red spots. <a href="#17" class="mim-tip-reference" title="Suzuki, Y., Nakamura, N., Fukuoka, K. <strong>GM1-gangliosidosis: accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types.</strong> Hum. Genet. 43: 127-131, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/99363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">99363</a>] [<a href="https://doi.org/10.1007/BF00293589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="99363">Suzuki et al. (1978)</a> found increased GM1 accumulation in cultured skin fibroblasts from these patients. However, the accumulation was less than that observed in patients with type I infantile disease, indicating a correlation of storage material with disease severity. By cell complementation studies, <a href="#15" class="mim-tip-reference" title="Suzuki, Y., Furukawa, T., Hoogeveen, A., Verheijen, F., Galjaard, H. <strong>Adult type GM1-gangliosidosis: a complementation study on somatic cell hybrids.</strong> Brain Dev. 1: 83-86, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/121869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">121869</a>] [<a href="https://doi.org/10.1016/s0387-7604(79)80014-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="121869">Suzuki et al. (1979)</a> confirmed that the Japanese adults had a variant form of beta-galactosidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=404231+99363+121869" 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="#14" class="mim-tip-reference" title="Stevenson, R. E., Taylor, H. A., Jr., Parks, S. E. <strong>Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.</strong> Clin. Genet. 13: 305-313, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/416929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">416929</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="416929">Stevenson et al. (1978)</a> reported 3 patients from 2 families with type III GM1-gangliosidosis. All had onset by age 4 years, but showed survival into adulthood. One affected boy had early signs of stuttering, overactivity, mental retardation, spasticity, and ataxia. Radiographic examination at age 19 years showed scoliosis, irregularity of the vertebral plates, flattened vertebral bodies, and dysplastic femoral heads. Another child developed walking difficulties at age 3 and showed progressive deterioration with loss of speech and the development of choreic movements and progressive spasticity. The third patient began deteriorating at age 3 years. He never learned to speak clearly, developed abnormal hand movements, and showed mental retardation. He had generalized spasticity, athetoid movements, and rigidity. None of the patients had visceromegaly or macular red spots. <a href="#14" class="mim-tip-reference" title="Stevenson, R. E., Taylor, H. A., Jr., Parks, S. E. <strong>Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.</strong> Clin. Genet. 13: 305-313, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/416929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">416929</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="416929">Stevenson et al. (1978)</a> stated that these patients had a more severe phenotype than usually seen in type III, but less severe than in types I and II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=416929" 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="Wenger, D. A., Sattler, M., Mueller, O. T., Myers, G. G., Schneiman, R. S., Nixon, G. W. <strong>Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.</strong> Clin. Genet. 17: 323-334, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777095</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00158.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6777095">Wenger et al. (1980)</a> described a brother and sister, aged 19 and 25 years, respectively, with ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. A primary defect in beta-galactosidase was indicated by the half-normal values in many relatives, including both parents, and by the normal levels of sialidase. Complementation with infantile type I GM1-gangliosidosis did not occur, indicating that it was a variant form of that disorder. <a href="#2" class="mim-tip-reference" title="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> provided follow-up of the family reported by <a href="#22" class="mim-tip-reference" title="Wenger, D. A., Sattler, M., Mueller, O. T., Myers, G. G., Schneiman, R. S., Nixon, G. W. <strong>Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.</strong> Clin. Genet. 17: 323-334, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777095</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00158.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6777095">Wenger et al. (1980)</a>. The 38-year-old sister and 32-year-old brother had normal childhood development but delayed or defective speech development. Neurologic workup of the sister at age 19 showed a defect in articulation and impairment of upper and lower limb coordination. At age 38, she showed a severe and progressive stutter, hyperactive deep tendon reflexes, especially in the legs, and pes cavus. Intelligence, cranial nerve function, and funduscopic examination were all normal. Bilateral total hip replacement had been required at the age of 33 years. The brother showed progressive dysarthria, moderate ataxia, and intention tremor, but cranial nerve funduscopic examinations were normal. Flattening of vertebral bodies, progressive kyphosis, and subluxation of the right hip were features. Both sides of the family originated from a small town in western Denmark. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8198123+6777095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K. <strong>Chronic Gm(1) 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://doi.org/10.1002/ana.410090509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6791574">Goldman et al. (1981)</a> and <a href="#7" class="mim-tip-reference" title="Kobayashi, T., Suzuki, K. <strong>Chronic Gm(1) gangliosidosis presenting as dystonia: II. Biochemical studies.</strong> Ann. Neurol. 9: 476-483, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6791575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6791575</a>] [<a href="https://doi.org/10.1002/ana.410090510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6791575">Kobayashi and Suzuki (1981)</a> reported a 27-year-old man with GM1-gangliosidosis who experienced a slowly progressive dystonia that began at about age 4 years. Dystonia primarily affected the face and limbs and eventually became incapacitating. Myoclonus, seizures, and macular cherry-red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized beta-galactosidase deficiency with specific accumulation of GM1 ganglioside in the basal ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6791574+6791575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Uyama, E., Terasaki, T., Watanabe, S., Naito, M., Owada, M., Araki, S., Ando, M. <strong>Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia.</strong> Acta Neurol. Scand. 86: 609-615, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1336295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1336295</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1992.tb05497.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1336295">Uyama et al. (1992)</a> described 3 Japanese brothers with type III GM1-gangliosidosis presenting as dystonia. The patients were examined at ages 28, 31, and 33 years. They had developed dysarthria with facial grimacing in early childhood. As adults, all had generalized dystonia that did not disappear when the patients were lying or sitting relaxed. Brain imaging showed bilaterally symmetric high density lesions only in the putamen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1336295" 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="#24" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Sakuraba, H., Nakano, T., Yanagisawa, N., Inui, K., Okada, S., Uyama, E., Namba, R., Kondo, K., Iwasaki, S., Takamiya, K., Suzuki, Y. <strong>GM1 Gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.</strong> Ann. Neurol. 31: 328-332, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353343</a>] [<a href="https://doi.org/10.1002/ana.410310316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353343">Yoshida et al. (1992)</a> reported 16 Japanese patients with adult GM1-gangliosidosis from 10 unrelated families. Age at onset ranged from 3 to 30 years. The main clinical manifestations were gait and speech disturbances caused by persistent muscle hypertonia. Dystonic posturing, facial grimacing, and parkinsonism were commonly seen. Dysmorphism, visceromegaly, and severe mental impairment were not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> reported a 21-year-old patient with type III GM1-gangliosidosis who presented at age 3 years with speech difficulties that continued as a severe stutter. Neurologic examination demonstrated spastic quadriparesis, especially in the legs, with a scissoring gait. The patient had a history of urinary incontinence. Cranial nerve and funduscopic examinations, as well as intellect, were normal. Magnetic resonance imaging showed mild ventricular enlargement. The patient was also described as having short stature and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198123" 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>Early complementation studies on cells from patients with types I, II, and III GM1-gangliosidosis yielded conflicting results. Although mutant beta-galactosidase-1 in the different types is due to allelic mutations at the same locus, some studies showed complementation between the different types (see, e.g. Galjaard et al. (<a href="#4" class="mim-tip-reference" title="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>]" pmid="812565">1975</a>, <a href="#3" class="mim-tip-reference" title="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://doi.org/10.1038/257060a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="808736">1975</a>) and <a href="#8" class="mim-tip-reference" title="Koster, J. F., Niermeijer, M. F., Loonen, M. C. B., Galjaard, H. <strong>Beta-galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM-1-gangliosidosis.</strong> Clin. Genet. 9: 427-432, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/816580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">816580</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1976.tb02272.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="816580">Koster et al., 1976</a>; <a href="#13" class="mim-tip-reference" title="Reuser, A. J. J., Andria, G., de Wit-Verbeek, E., Hoogeveen, A., del Giudice, E., Halley, D. <strong>A two-year-old patient with an atypical expression of Gm(1)-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.</strong> Hum. Genet. 46: 11-19, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">107114</a>] [<a href="https://doi.org/10.1007/BF00278897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="107114">Reuser et al., 1979</a>). However, in a detailed review, <a href="#12" class="mim-tip-reference" title="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>]" pmid="322478">O'Brien and Norden (1977)</a> discussed several possible explanations for the finding of complementation between different types of GM1-gangliosidosis, including alterations of tertiary structure and protein-protein interaction between different mutant monomers. <a href="#12" class="mim-tip-reference" title="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>]" pmid="322478">O'Brien and Norden (1977)</a> argued that the findings of complementation did not necessarily imply that the different types of GM1-gangliosidosis were nonallelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=322478+812565+816580+808736+107114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Taylor, H. A., Stevenson, R. E., Parks, S. E. <strong>Beta-galactosidase deficiency: studies of two patients with prolonged survival.</strong> Am. J. Med. Genet. 5: 235-245, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6773417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6773417</a>] [<a href="https://doi.org/10.1002/ajmg.1320050304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6773417">Taylor et al. (1980)</a> reported biochemical studies of 2 of the patients reported by <a href="#14" class="mim-tip-reference" title="Stevenson, R. E., Taylor, H. A., Jr., Parks, S. E. <strong>Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.</strong> Clin. Genet. 13: 305-313, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/416929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">416929</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="416929">Stevenson et al. (1978)</a>. Beta-galactosidase differed in pH optima, heat denaturation, NaCl kinetics, and electrophoretic mobility from each other and from the normal. No complementation was found in cell fusion studies. The authors concluded that the 2 patients had different primary mutations at the beta-galactosidase locus that were likely structural in nature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=416929+6773417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Mutoh, T., Naoi, M., Nagatsu, T., Takahashi, A., Matsuoka, Y., Hashizume, Y., Fujiki, N. <strong>Purification and characterization of human liver beta-galactosidase from a patient with the adult form of G(M1) gangliosidosis and a normal control.</strong> Biochim. Biophys. Acta 964: 244-253, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3124890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3124890</a>] [<a href="https://doi.org/10.1016/0304-4165(88)90172-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3124890">Mutoh et al. (1988)</a> demonstrated altered properties of the mutant enzyme and altered apparent molecular weights of the enzyme isolated from the liver of a patient with the adult form of GM1-gangliosidosis. The findings suggested that some patients with the adult form have a structurally altered enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3124890" 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="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>]" pmid="3084469">Hoogeveen et al. (1986)</a> showed that the mutations in some cases of 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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<p>In the affected sibs reported by <a href="#22" class="mim-tip-reference" title="Wenger, D. A., Sattler, M., Mueller, O. T., Myers, G. G., Schneiman, R. S., Nixon, G. W. <strong>Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.</strong> Clin. Genet. 17: 323-334, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777095</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00158.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6777095">Wenger et al. (1980)</a>, <a href="#2" class="mim-tip-reference" title="Chakraborty, S., Rafi, M. A., Wenger, D. A. <strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong> Am. J. Hum. Genet. 54: 1004-1013, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>]" pmid="8198123">Chakraborty et al. (1994)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene (<a href="/entry/611458#0013">611458.0013</a>; <a href="/entry/611458#0022">611458.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8198123+6777095" 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 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis, <a href="#11" class="mim-tip-reference" title="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>]" pmid="1909089">Nishimoto et al. (1991)</a> identified a mutation in the GLB1 gene (I51T; <a href="/entry/611458#0004">611458.0004</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'})"><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>Yoshida et al. (<a href="#25" class="mim-tip-reference" title="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>]" pmid="1907800">1991</a>, <a href="#24" class="mim-tip-reference" title="Yoshida, K., Oshima, A., Sakuraba, H., Nakano, T., Yanagisawa, N., Inui, K., Okada, S., Uyama, E., Namba, R., Kondo, K., Iwasaki, S., Takamiya, K., Suzuki, Y. <strong>GM1 Gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.</strong> Ann. Neurol. 31: 328-332, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353343</a>] [<a href="https://doi.org/10.1002/ana.410310316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353343">1992</a>) also found the I51T mutation in Japanese patients with adult GM1-gangliosidosis. All patients except 1 were homozygotes. One patient was a compound heterozygote with an R457Q mutation (<a href="/entry/611458#0008">611458.0008</a>). Clinically, the compound heterozygous patient showed more severe neurologic manifestations and a more rapid clinical course than did the homozygotes. The I51T allele showed 5.28 to 7.28% residual enzyme activity, whereas the compound heterozygous patient had 4.24% residual activity. The mutations causing residual enzyme activity appeared to be related to severity of clinical manifestations, but other genetic or environmental factors likely also contributed to the phenotype since there was considerable variation in age of onset and clinical course among I51T homozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1907800+1353343" 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="#Alroy1985" class="mim-tip-reference" title="Alroy, J., Orgad, U., Ucci, A. A., Schelling, S. H., Schunk, K. L., Warren, C. D., Raghavan, S. S., Kolodny, E. H. <strong>Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency.</strong> Science 229: 470-472, 1985.">Alroy et al. (1985)</a>; <a href="#Yamamoto1974" class="mim-tip-reference" title="Yamamoto, A., Adachi, S., Kawamura, S., Takahashi, M., Kitani, T., Ohtori, T., Shinji, Y., Nishikawa, M. <strong>Localized beta-galactosidase deficiency: occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of Gm(1)-gangliosidosis.</strong> Arch. Intern. Med. 134: 627-634, 1974.">Yamamoto et al. (1974)</a>
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Alroy, J., Orgad, U., Ucci, A. A., Schelling, S. H., Schunk, K. L., Warren, C. D., Raghavan, S. S., Kolodny, E. H.
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<strong>Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency.</strong>
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Science 229: 470-472, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3925555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3925555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3925555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.3925555" target="_blank">Full Text</a>]
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Chakraborty, S., Rafi, M. A., Wenger, D. A.
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<strong>Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.</strong>
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Am. J. Hum. Genet. 54: 1004-1013, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Galjaard, H., Hoogeveen, A., Keijzer, W., deWit-Verbeek, H. A., Reuser, A. J. J., Ho, M. W., Robinson, D.
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<strong>Genetic heterogeneity in GM1-gangliosidosis.</strong>
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Nature 257: 60-62, 1975.
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[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>]
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[<a href="https://doi.org/10.1038/257060a0" target="_blank">Full Text</a>]
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Galjaard, H., Hoogeveen, A., Keijzer, W., DeWit-Verbeek, H. A., Reuser, A. J. J.
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<strong>Different gene mutations in variants of Gm(1)- and Gm(2)-gangliosidosis demonstrated by enzyme analysis of (single) somatic hybrid cells.</strong>
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Birth Defects Orig. Art. Ser. XI(3): 150-156, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 320-326, 1975.
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[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>]
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Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., Suzuki, K.
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<strong>Chronic Gm(1) gangliosidosis presenting as dystonia: I. Clinical and pathological features.</strong>
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Ann. Neurol. 9: 465-475, 1981.
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[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>]
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[<a href="https://doi.org/10.1002/ana.410090509" target="_blank">Full Text</a>]
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<strong>GM1-gangliosidosis: defective recognition site on beta-galactosidase precursor.</strong>
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Kobayashi, T., Suzuki, K.
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<strong>Chronic Gm(1) gangliosidosis presenting as dystonia: II. Biochemical studies.</strong>
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[<a href="https://doi.org/10.1002/ana.410090510" target="_blank">Full Text</a>]
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Koster, J. F., Niermeijer, M. F., Loonen, M. C. B., Galjaard, H.
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<strong>Beta-galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM-1-gangliosidosis.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb02272.x" target="_blank">Full Text</a>]
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Loonen, M. C. B., van de Lugt, L., Franke, C. L.
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<strong>Angiokeratoma corporis diffusum and lysosomal enzyme deficiency. (Letter)</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(74)90984-2" target="_blank">Full Text</a>]
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<strong>Purification and characterization of human liver beta-galactosidase from a patient with the adult form of G(M1) gangliosidosis and a normal control.</strong>
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Biochim. Biophys. Acta 964: 244-253, 1988.
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[<a href="https://doi.org/10.1016/0304-4165(88)90172-9" target="_blank">Full Text</a>]
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Nishimoto, J., Nanba, E., Inui, K., Okada, S., Suzuki, K.
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<strong>GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.</strong>
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</p>
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<strong>Nature of the mutation in adult beta-galactosidase deficient patients.</strong>
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</p>
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<a id="Reuser1979" class="mim-anchor"></a>
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<strong>A two-year-old patient with an atypical expression of Gm(1)-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.</strong>
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[<a href="https://doi.org/10.1007/BF00278897" target="_blank">Full Text</a>]
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<strong>Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01185.x" target="_blank">Full Text</a>]
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<a id="Suzuki1979" class="mim-anchor"></a>
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<div class="">
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Suzuki, Y., Furukawa, T., Hoogeveen, A., Verheijen, F., Galjaard, H.
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<strong>Adult type GM1-gangliosidosis: a complementation study on somatic cell hybrids.</strong>
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Brain Dev. 1: 83-86, 1979.
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[<a href="https://doi.org/10.1016/s0387-7604(79)80014-5" target="_blank">Full Text</a>]
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<a id="Suzuki1977" class="mim-anchor"></a>
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<strong>Beta-galactosidase deficiency in juvenile and adult patients: report of six Japanese cases and review of literature.</strong>
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Hum. Genet. 36: 219-229, 1977.
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[<a href="https://doi.org/10.1007/BF00273261" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Suzuki1978" class="mim-anchor"></a>
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Suzuki, Y., Nakamura, N., Fukuoka, K.
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<strong>GM1-gangliosidosis: accumulation of ganglioside GM1 in cultured skin fibroblasts and correlation with clinical types.</strong>
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[<a href="https://doi.org/10.1007/BF00293589" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Taylor1980" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/ajmg.1320050304" target="_blank">Full Text</a>]
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<a id="Uyama1992" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1111/j.1600-0404.1992.tb05497.x" target="_blank">Full Text</a>]
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<a id="Wenger1974" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0140-6736(74)90173-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00158.x" target="_blank">Full Text</a>]
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<a id="Yamamoto1974" class="mim-anchor"></a>
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Yamamoto, A., Adachi, S., Kawamura, S., Takahashi, M., Kitani, T., Ohtori, T., Shinji, Y., Nishikawa, M.
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<strong>Localized beta-galactosidase deficiency: occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of Gm(1)-gangliosidosis.</strong>
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[<a href="https://doi.org/10.1001/archinte.134.4.627" target="_blank">Full Text</a>]
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Yoshida, K., Oshima, A., Sakuraba, H., Nakano, T., Yanagisawa, N., Inui, K., Okada, S., Uyama, E., Namba, R., Kondo, K., Iwasaki, S., Takamiya, K., Suzuki, Y.
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<strong>GM1 Gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.</strong>
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Ann. Neurol. 31: 328-332, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410310316" target="_blank">Full Text</a>]
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Yoshida, K., Oshima, A., Shimmoto, M., Fukuhara, Y., Sakuraba, H., Yanagisawa, N., Suzuki, Y.
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<strong>Human beta-galactosidase gene mutations in G(M1)-gangliosidosis: a common mutation among Japanese adult/chronic cases.</strong>
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Am. J. Hum. Genet. 49: 435-442, 1991.
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[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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Cassandra L. Kniffin - reorganized : 10/1/2007
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Cassandra L. Kniffin - updated : 9/27/2007
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 03/26/2024
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carol : 05/04/2021<br>alopez : 09/13/2016<br>carol : 07/09/2016<br>terry : 4/9/2009<br>carol : 10/2/2007<br>carol : 10/1/2007<br>ckniffin : 9/27/2007<br>warfield : 4/1/1994<br>mimadm : 2/19/1994<br>carol : 2/4/1993<br>supermim : 3/16/1992<br>carol : 2/6/1992<br>carol : 3/19/1991
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<strong>#</strong> 230650
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GM1-GANGLIOSIDOSIS, TYPE III; GM1G3
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GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3
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<strong>SNOMEDCT:</strong> 238027003;
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<strong>ORPHA:</strong> 354, 79257;
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<strong>DO:</strong> 0080489;
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Phenotype <br /> MIM number
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Inheritance
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3p22.3
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GM1-gangliosidosis, type III
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230650
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Autosomal recessive
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3
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GLB1
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611458
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<p>A number sign (#) is used with this entry because type III GM1-gangliosidosis (GM1G3) is caused by homozygous or compound heterozygous mutation in the gene encoding beta-galactosidase-1 (GLB1; 611458) on chromosome 3p22.</p><p>For a general discussion of classification and phenotypic heterogeneity of GM1-gangliosidosis, see 230500.</p>
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<strong>Description</strong>
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<p>GM1-gangliosidosis type III (GM1G3) is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (230600). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).</p>
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<strong>Clinical Features</strong>
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<p>Wenger et al. (1974) described beta-galactosidase deficiency in young adults. </p><p>Loonen et al. (1974) reported a patient with type III GM1-gangliosidosis who had angiokeratoma beginning at age 8 years, cerebellar dysfunction and diminishing vision beginning at age 16, and myoclonic fits, intellectual deterioration and coarsening of the face beginning at age 22. </p><p>Suzuki et al. (1977) reported 2 Japanese sibs, aged 34 and 30 years, respectively, with the adult form of GM1-gangliosidosis. They had progressive pyramidal and extrapyramidal disease with generalized muscle atrophy without dysmorphism or macular cherry-red spots. Suzuki et al. (1978) found increased GM1 accumulation in cultured skin fibroblasts from these patients. However, the accumulation was less than that observed in patients with type I infantile disease, indicating a correlation of storage material with disease severity. By cell complementation studies, Suzuki et al. (1979) confirmed that the Japanese adults had a variant form of beta-galactosidase deficiency. </p><p>Stevenson et al. (1978) reported 3 patients from 2 families with type III GM1-gangliosidosis. All had onset by age 4 years, but showed survival into adulthood. One affected boy had early signs of stuttering, overactivity, mental retardation, spasticity, and ataxia. Radiographic examination at age 19 years showed scoliosis, irregularity of the vertebral plates, flattened vertebral bodies, and dysplastic femoral heads. Another child developed walking difficulties at age 3 and showed progressive deterioration with loss of speech and the development of choreic movements and progressive spasticity. The third patient began deteriorating at age 3 years. He never learned to speak clearly, developed abnormal hand movements, and showed mental retardation. He had generalized spasticity, athetoid movements, and rigidity. None of the patients had visceromegaly or macular red spots. Stevenson et al. (1978) stated that these patients had a more severe phenotype than usually seen in type III, but less severe than in types I and II. </p><p>Wenger et al. (1980) described a brother and sister, aged 19 and 25 years, respectively, with ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. A primary defect in beta-galactosidase was indicated by the half-normal values in many relatives, including both parents, and by the normal levels of sialidase. Complementation with infantile type I GM1-gangliosidosis did not occur, indicating that it was a variant form of that disorder. Chakraborty et al. (1994) provided follow-up of the family reported by Wenger et al. (1980). The 38-year-old sister and 32-year-old brother had normal childhood development but delayed or defective speech development. Neurologic workup of the sister at age 19 showed a defect in articulation and impairment of upper and lower limb coordination. At age 38, she showed a severe and progressive stutter, hyperactive deep tendon reflexes, especially in the legs, and pes cavus. Intelligence, cranial nerve function, and funduscopic examination were all normal. Bilateral total hip replacement had been required at the age of 33 years. The brother showed progressive dysarthria, moderate ataxia, and intention tremor, but cranial nerve funduscopic examinations were normal. Flattening of vertebral bodies, progressive kyphosis, and subluxation of the right hip were features. Both sides of the family originated from a small town in western Denmark. </p><p>Goldman et al. (1981) and Kobayashi and Suzuki (1981) reported a 27-year-old man with GM1-gangliosidosis who experienced a slowly progressive dystonia that began at about age 4 years. Dystonia primarily affected the face and limbs and eventually became incapacitating. Myoclonus, seizures, and macular cherry-red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized beta-galactosidase deficiency with specific accumulation of GM1 ganglioside in the basal ganglia. </p><p>Uyama et al. (1992) described 3 Japanese brothers with type III GM1-gangliosidosis presenting as dystonia. The patients were examined at ages 28, 31, and 33 years. They had developed dysarthria with facial grimacing in early childhood. As adults, all had generalized dystonia that did not disappear when the patients were lying or sitting relaxed. Brain imaging showed bilaterally symmetric high density lesions only in the putamen. </p><p>Yoshida et al. (1992) reported 16 Japanese patients with adult GM1-gangliosidosis from 10 unrelated families. Age at onset ranged from 3 to 30 years. The main clinical manifestations were gait and speech disturbances caused by persistent muscle hypertonia. Dystonic posturing, facial grimacing, and parkinsonism were commonly seen. Dysmorphism, visceromegaly, and severe mental impairment were not observed. </p><p>Chakraborty et al. (1994) reported a 21-year-old patient with type III GM1-gangliosidosis who presented at age 3 years with speech difficulties that continued as a severe stutter. Neurologic examination demonstrated spastic quadriparesis, especially in the legs, with a scissoring gait. The patient had a history of urinary incontinence. Cranial nerve and funduscopic examinations, as well as intellect, were normal. Magnetic resonance imaging showed mild ventricular enlargement. The patient was also described as having short stature and scoliosis. </p>
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<strong>Biochemical Features</strong>
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<p>Early complementation studies on cells from patients with types I, II, and III GM1-gangliosidosis yielded conflicting results. Although mutant beta-galactosidase-1 in the different types is due to allelic mutations at the same locus, some studies showed complementation between the different types (see, e.g. Galjaard et al. (1975, 1975) and Koster et al., 1976; Reuser et al., 1979). However, in a detailed review, O'Brien and Norden (1977) discussed several possible explanations for the finding of complementation between different types of GM1-gangliosidosis, including alterations of tertiary structure and protein-protein interaction between different mutant monomers. O'Brien and Norden (1977) argued that the findings of complementation did not necessarily imply that the different types of GM1-gangliosidosis were nonallelic. </p><p>Taylor et al. (1980) reported biochemical studies of 2 of the patients reported by Stevenson et al. (1978). Beta-galactosidase differed in pH optima, heat denaturation, NaCl kinetics, and electrophoretic mobility from each other and from the normal. No complementation was found in cell fusion studies. The authors concluded that the 2 patients had different primary mutations at the beta-galactosidase locus that were likely structural in nature. </p><p>Mutoh et al. (1988) demonstrated altered properties of the mutant enzyme and altered apparent molecular weights of the enzyme isolated from the liver of a patient with the adult form of GM1-gangliosidosis. The findings suggested that some patients with the adult form have a structurally altered enzyme. </p><p>Hoogeveen et al. (1986) showed that the mutations in some cases of 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>
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<strong>Molecular Genetics</strong>
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<p>In the affected sibs reported by Wenger et al. (1980), Chakraborty et al. (1994) identified compound heterozygosity for 2 mutations in the GLB1 gene (611458.0013; 611458.0022). </p><p>In 6 Japanese patients with the adult/chronic form of GM1-gangliosidosis, Nishimoto et al. (1991) identified a mutation in the GLB1 gene (I51T; 611458.0004). </p><p>Yoshida et al. (1991, 1992) also found the I51T mutation in Japanese patients with adult GM1-gangliosidosis. All patients except 1 were homozygotes. One patient was a compound heterozygote with an R457Q mutation (611458.0008). Clinically, the compound heterozygous patient showed more severe neurologic manifestations and a more rapid clinical course than did the homozygotes. The I51T allele showed 5.28 to 7.28% residual enzyme activity, whereas the compound heterozygous patient had 4.24% residual activity. The mutations causing residual enzyme activity appeared to be related to severity of clinical manifestations, but other genetic or environmental factors likely also contributed to the phenotype since there was considerable variation in age of onset and clinical course among I51T homozygotes. </p>
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<strong>See Also:</strong>
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</h4>
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<span class="mim-text-font">
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Alroy et al. (1985); Yamamoto et al. (1974)
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<strong>REFERENCES</strong>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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