2904 lines
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Entry
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- #230600 - GM1-GANGLIOSIDOSIS, TYPE II; GM1G2
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- OMIM
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<p>
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<span class="h4">#230600</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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<li role="presentation">
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<a href="/clinicalSynopsis/230600"><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="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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</a>
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</h4>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</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 II" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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=11282&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">GM1 gangliosidosis type 2 </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/8696" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=230600[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=79256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">GM1 gangliosidosis type 2</a></div>
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</div>
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</div>
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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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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:0080501" 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/230600" 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:0080501" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:230600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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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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</span>
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<a id="title" class="mim-anchor"></a>
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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> 18756002<br />
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<strong>ORPHA:</strong> 354, 79256<br />
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<strong>DO:</strong> 0080501<br />
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">ICD+</a>
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</div>
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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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230600
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</span>
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</span>
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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 II; GM1G2
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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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, JUVENILE TYPE<br />
|
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II<br />
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GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2
|
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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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<div>
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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/149?start=-3&limit=10&highlight=149">
|
|
3p22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GM1-gangliosidosis, type II
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230600"> 230600 </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/230600" 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/230600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/230600" 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> 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">
|
|
|
|
- Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
|
|
Mild flaring of iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856567</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Developmental arrest, 2nd year of life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856564</a>]</span><br /> -
|
|
Myoclonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317123</a>, <a href="https://bioportal.bioontology.org/search?q=C0014550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
|
|
Progressive psychomotor deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007272</a>]</span><br /> -
|
|
Spastic quadriplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span><br /> -
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Gait disturbance (ataxia) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856566</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
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Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br />
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<strong> HEMATOLOGY </strong>
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- Sea-blue histiocyte (bone marrow) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856568</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39474009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39474009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37821003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37821003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001982" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001982</a>]</span><br />
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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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 class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Onset of disease 7 months to 3 years<br /> -
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Survival to 10 years<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the beta-1-galactosidase gene (GLB1, <a href="/entry/611458#0003">611458.0003</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because GM1-gangliosidosis type II (GM1G2) 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 the classification and phenotypic heterogeneity of GM1-gangliosidosis, see type I (<a href="/entry/230500">230500</a>).</p>
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<strong>Description</strong>
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<p>GM1-gangliosidosis type II (GM1G2) is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (<a href="#1" class="mim-tip-reference" title="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al., 2003</a>). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (<a href="#6" 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>; <a href="#14" 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">Yoshida et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12644936+1907800+1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S. <strong>Late infantile systemic lipidosis (major monosialogangliosidosis; delineation of two types).</strong> Neurology 18: 340-347, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4173446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4173446</a>] [<a href="https://doi.org/10.1212/wnl.18.4.340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4173446">Derry et al. (1968)</a> reported 2 sibs of French Canadian ancestry who developed normally until age 12 months when they showed psychomotor regression and loss of developmental skills. By age 2 years, they had spastic quadriplegia with extensor plantar responses and tonic neck reflex. Optic discs were pale, but cherry-red spots were not observed. Visceromegaly, facial dysmorphism, and skeletal changes were not present. <a href="#2" class="mim-tip-reference" title="Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S. <strong>Late infantile systemic lipidosis (major monosialogangliosidosis; delineation of two types).</strong> Neurology 18: 340-347, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4173446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4173446</a>] [<a href="https://doi.org/10.1212/wnl.18.4.340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4173446">Derry et al. (1968)</a> suggested that this was a late-infantile form of GM1-gangliosidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4173446" 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>The patient reported by <a href="#4" class="mim-tip-reference" title="Kint, J. A., Dacremont, G., Vlietinck, R. <strong>Type II Gm(1) gangliosidosis?</strong> Lancet 294: 108-109, 1969. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4182749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4182749</a>] [<a href="https://doi.org/10.1016/s0140-6736(69)92420-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4182749">Kint et al. (1969)</a> was likely affected with type II GM1-gangliosidosis. <a href="#12" class="mim-tip-reference" title="Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., Scriver, C. R. <strong>Gm(1)-gangliosidosis without chondrodystrophy or visceromegaly.</strong> Neurology 20: 23-43, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4243740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4243740</a>] [<a href="https://doi.org/10.1212/wnl.20.1.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4243740">Wolfe et al. (1970)</a> reported 2 sibs with the type II form. Onset occurred at 10 to 12 months of age with mental and motor retardation, seizures, spasticity, ataxia, and GM1-ganglioside accumulation in tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4243740+4182749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="O'Brien, J. S., Ho, M. W., Veath, M. L., Wilson, J. F., Myers, G., Opitz, J. M., ZuRhein, G. M., Spranger, J. W., Hartmann, H. A., Haneberg, B., Grosse, F. R. <strong>Juvenile Gm1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.</strong> Clin. Genet. 3: 411-434, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4650864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4650864</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1972.tb01476.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4650864">O'Brien et al. (1972)</a> reported 5 patients from 2 families with the juvenile type of GM1-gangliosidosis. Three sibs showed developmental regression beginning at about 15 to 18 months of age. Early symptoms included feeding difficulties, loss of ability to walk, unsteadiness, sleepiness, squinting, and loss of speech. Tonic-clonic seizures began at 23 to 30 months. A detailed report of 1 child noted lumbar kyphosis, muscle weakness and clumsiness, and hyperactive reflexes, hypoplasia of the vertebrae, coxa valga, and flaring of the wings of the iliac bones. Bone marrow biopsies showed histiocytic storage cells, and peripheral blood samples contained vacuolated lymphocytes. Two children had mild facial dysmorphism, including epicanthal folds, posteriorly rotated ears, flattened nasal bridge, mildly anteverted nostrils, and slightly prominent forehead. Two sibs from another family showed a similar phenotype. At age 5 years, 1 child exhibited decerebrate rigidity with generalized muscle weakness and spastic paraparesis. Brain biopsy of 1 child showed extensive cytoplasmic distention of most neurons and glial cells with storage material. Electron microscopy showed membranous cytoplasmic bodies containing material. Similar findings were observed in the liver. Biochemical analysis showed accumulation of GM1 gangliosides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4650864" 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="Singer, H. S., Schafer, I. A. <strong>Clinical and enzymatic variations in Gm(1) generalized gangliosidosis.</strong> Am. J. Hum. Genet. 24: 454-463, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5031983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5031983</a>]" pmid="5031983">Singer and Schafer (1972)</a> reported a child who showed normal development until 9 to 10 months of age. After this time, he showed psychomotor deterioration. At age 3 years, he showed severe spasticity and seizures. He had no organomegaly and normal maculae. Radiographic studies showed early beaking of the lumbar vertebrae. Laboratory studies showed vacuolated lymphocytes in peripheral blood smear and bone marrow, glycolipid-containing ganglion cells, and decreased beta-galactosidase activity. Detailed biochemical studies on beta-galactosidase obtained from liver tissue of this patient and a patient with type I disease suggested that they are related and likely allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5031983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Pinsky, L., Miller, J., Shanfield, B., Watters, G. V., Wolfe, L. S. <strong>Gm(1) gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observation on a third variant.</strong> Am. J. Hum. Genet. 26: 563-577, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4420522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4420522</a>]" pmid="4420522">Pinsky et al. (1974)</a> described a milder variant of GM1-gangliosidosis with more beta-galactosidase activity than observed in types I or II. The patient developed seizures at age 5 months, followed by minimal hepatosplenomegaly, brisk reflexes, lower limb scissoring, and vacuolated cells on bone marrow biopsy. At age 8 months, her peripheral leukocyte GLB1 activity was one-tenth of normal values. She showed an unusual clinical course. There was no more seizure activity after age 5 months, she walked at age 22 months, and began to speak at age 3 years. Bone development was normal until age 3 when medullary cavities of the bones of the upper extremity and ribs widened. Given the residual enzyme activity and relatively milder phenotype, <a href="#9" class="mim-tip-reference" title="Pinsky, L., Miller, J., Shanfield, B., Watters, G. V., Wolfe, L. S. <strong>Gm(1) gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observation on a third variant.</strong> Am. J. Hum. Genet. 26: 563-577, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4420522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4420522</a>]" pmid="4420522">Pinsky et al. (1974)</a> classified her as having a 'third' type of GM1-gangliosidosis. However, given the early age at onset of the first symptoms, she is noted here as having the juvenile type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4420522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al. (2003)</a> reported a child with late-infantile GM1-gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. At 12 months, he could stand and was on the verge of walking. During his third year of life, blindness, increasing pain, and spasticity were noted. By the age of 5 years, he had the onset of dramatic episodes of fever and hypertension of unknown etiology. At the age of 6 years, he developed renal failure and succumbed to the illness at the age of 6.5 years. He never showed a cherry-red spot of the macula. The clinical characterization of this patient as late-infantile GM1 gangliosidosis was in keeping with a clear-cut division between the 2 subforms of the type II phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" 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 4 Japanese patients with the juvenile form of GM1-gangliosidosis, <a href="#6" 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 (R201C; <a href="/entry/611458#0003">611458.0003</a>). One patient was homozygous for the mutation; the second mutant allele could not be identified in the 3 remaining patients. All had detectable GLB1 mRNA. <a href="#14" 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">Yoshida et al. (1991)</a> identified a heterozygous R201C mutation in a Japanese patient with the late-infantile form of GM1-gangliosidosis. Beta-galactosidase activity was 3% of normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1907800+1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with the late-infantile form of GM1-gangliosidosis, <a href="#1" class="mim-tip-reference" title="Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A. <strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong> Hum. Genet. 113: 44-50, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>] [<a href="https://doi.org/10.1007/s00439-003-0930-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12644936">Caciotti et al. (2003)</a> identified compound heterozygosity for 2 mutations in the GLB1 gene (<a href="/entry/611458#0003">611458.0003</a>; <a href="/entry/611458#0022">611458.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Holmes, E. W., O'Brien, J. S. <strong>Feline Gm(1) gangliosidosis: characterization of the residual liver acid beta-galactosidase.</strong> Am. J. Hum. Genet. 30: 505-515, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/83795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">83795</a>]" pmid="83795">Holmes and O'Brien (1978)</a> studied the feline disorder which is similar to type II generalized gangliosidosis. The residual enzyme was not only altered in its catalytic and physicochemical characteristics but was also different from normal antigenically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=83795" 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="#Lowden1974" class="mim-tip-reference" title="Lowden, J. A., Callahan, J. W., Norman, M. G., Thain, M., Prichard, J. S. <strong>Juvenile Gm1-gangliosidosis: occurrence with absence of two beta-galactosidase components.</strong> Arch. Neurol. 31: 200-203, 1974.">Lowden et al. (1974)</a>; <a href="#O'Brien1969" class="mim-tip-reference" title="O'Brien, J. S. <strong>Five gangliosidoses. (Letter)</strong> Lancet 294: 805 only, 1969. Note: Originally Volume 2.">O'Brien (1969)</a>; <a href="#Suzuki1969" class="mim-tip-reference" title="Suzuki, K., Kamoshita, S. <strong>Chemical pathology of Gm(1)-gangliosidosis (generalized gangliosidosis).</strong> J. Neuropath. Exp. Neurol. 28: 25-73, 1969.">Suzuki and Kamoshita (1969)</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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Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A.
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<strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong>
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Hum. Genet. 113: 44-50, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12644936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12644936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12644936" 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/10.1007/s00439-003-0930-8" target="_blank">Full Text</a>]
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Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S.
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<strong>Late infantile systemic lipidosis (major monosialogangliosidosis; delineation of two types).</strong>
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Neurology 18: 340-347, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4173446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4173446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4173446" 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/10.1212/wnl.18.4.340" target="_blank">Full Text</a>]
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Holmes, E. W., O'Brien, J. S.
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<strong>Feline Gm(1) gangliosidosis: characterization of the residual liver acid beta-galactosidase.</strong>
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Am. J. Hum. Genet. 30: 505-515, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/83795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">83795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=83795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kint, J. A., Dacremont, G., Vlietinck, R.
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<strong>Type II Gm(1) gangliosidosis?</strong>
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Lancet 294: 108-109, 1969. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4182749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4182749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4182749" 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/10.1016/s0140-6736(69)92420-9" target="_blank">Full Text</a>]
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Lowden, J. A., Callahan, J. W., Norman, M. G., Thain, M., Prichard, J. S.
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<strong>Juvenile Gm1-gangliosidosis: occurrence with absence of two beta-galactosidase components.</strong>
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Arch. Neurol. 31: 200-203, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4368854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4368854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4368854" 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/10.1001/archneur.1974.00490390082010" 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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Am. J. Hum. Genet. 49: 566-574, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1909089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1909089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1909089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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O'Brien, J. S., Ho, M. W., Veath, M. L., Wilson, J. F., Myers, G., Opitz, J. M., ZuRhein, G. M., Spranger, J. W., Hartmann, H. A., Haneberg, B., Grosse, F. R.
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<strong>Juvenile Gm1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.</strong>
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Clin. Genet. 3: 411-434, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4650864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4650864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4650864" 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/10.1111/j.1399-0004.1972.tb01476.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="O'Brien1969" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
O'Brien, J. S.
|
|
<strong>Five gangliosidoses. (Letter)</strong>
|
|
Lancet 294: 805 only, 1969. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4186052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4186052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4186052" 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/10.1016/s0140-6736(69)90524-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Pinsky1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Pinsky, L., Miller, J., Shanfield, B., Watters, G. V., Wolfe, L. S.
|
|
<strong>Gm(1) gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observation on a third variant.</strong>
|
|
Am. J. Hum. Genet. 26: 563-577, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4420522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4420522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4420522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Singer1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Singer, H. S., Schafer, I. A.
|
|
<strong>Clinical and enzymatic variations in Gm(1) generalized gangliosidosis.</strong>
|
|
Am. J. Hum. Genet. 24: 454-463, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5031983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5031983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5031983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Suzuki1969" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Suzuki, K., Kamoshita, S.
|
|
<strong>Chemical pathology of Gm(1)-gangliosidosis (generalized gangliosidosis).</strong>
|
|
J. Neuropath. Exp. Neurol. 28: 25-73, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4237219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4237219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4237219" 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/10.1097/00005072-196901000-00003" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Wolfe1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., Scriver, C. R.
|
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<strong>Gm(1)-gangliosidosis without chondrodystrophy or visceromegaly.</strong>
|
|
Neurology 20: 23-43, 1970.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4243740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4243740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4243740" 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/10.1212/wnl.20.1.23" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yamamoto1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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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>
|
|
Arch. Intern. Med. 134: 627-634, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4278184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4278184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4278184" 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/10.1001/archinte.134.4.627" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Yoshida1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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>
|
|
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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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 10/1/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/27/2007
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/04/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 04/16/2009<br>terry : 4/9/2009<br>carol : 10/2/2007<br>carol : 10/1/2007<br>ckniffin : 9/27/2007<br>terry : 6/11/1999<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>carol : 2/6/1992<br>carol : 3/19/1991<br>carol : 3/4/1991<br>supermim : 3/20/1990
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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 class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>#</strong> 230600
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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GM1-GANGLIOSIDOSIS, TYPE II; GM1G2
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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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<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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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE<br />
|
|
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II<br />
|
|
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2
|
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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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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
|
GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
|
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</span>
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 18756002;
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<strong>ORPHA:</strong> 354, 79256;
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<strong>DO:</strong> 0080501;
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</span>
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</p>
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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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<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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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
3p22.3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
GM1-gangliosidosis, type II
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
230600
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GLB1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
611458
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because GM1-gangliosidosis type II (GM1G2) 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 the classification and phenotypic heterogeneity of GM1-gangliosidosis, see type I (230500).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>GM1-gangliosidosis type II (GM1G2) is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (Caciotti et al., 2003). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (Nishimoto et al., 1991; Yoshida et al., 1991). </p>
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Derry et al. (1968) reported 2 sibs of French Canadian ancestry who developed normally until age 12 months when they showed psychomotor regression and loss of developmental skills. By age 2 years, they had spastic quadriplegia with extensor plantar responses and tonic neck reflex. Optic discs were pale, but cherry-red spots were not observed. Visceromegaly, facial dysmorphism, and skeletal changes were not present. Derry et al. (1968) suggested that this was a late-infantile form of GM1-gangliosidosis. </p><p>The patient reported by Kint et al. (1969) was likely affected with type II GM1-gangliosidosis. Wolfe et al. (1970) reported 2 sibs with the type II form. Onset occurred at 10 to 12 months of age with mental and motor retardation, seizures, spasticity, ataxia, and GM1-ganglioside accumulation in tissues. </p><p>O'Brien et al. (1972) reported 5 patients from 2 families with the juvenile type of GM1-gangliosidosis. Three sibs showed developmental regression beginning at about 15 to 18 months of age. Early symptoms included feeding difficulties, loss of ability to walk, unsteadiness, sleepiness, squinting, and loss of speech. Tonic-clonic seizures began at 23 to 30 months. A detailed report of 1 child noted lumbar kyphosis, muscle weakness and clumsiness, and hyperactive reflexes, hypoplasia of the vertebrae, coxa valga, and flaring of the wings of the iliac bones. Bone marrow biopsies showed histiocytic storage cells, and peripheral blood samples contained vacuolated lymphocytes. Two children had mild facial dysmorphism, including epicanthal folds, posteriorly rotated ears, flattened nasal bridge, mildly anteverted nostrils, and slightly prominent forehead. Two sibs from another family showed a similar phenotype. At age 5 years, 1 child exhibited decerebrate rigidity with generalized muscle weakness and spastic paraparesis. Brain biopsy of 1 child showed extensive cytoplasmic distention of most neurons and glial cells with storage material. Electron microscopy showed membranous cytoplasmic bodies containing material. Similar findings were observed in the liver. Biochemical analysis showed accumulation of GM1 gangliosides. </p><p>Singer and Schafer (1972) reported a child who showed normal development until 9 to 10 months of age. After this time, he showed psychomotor deterioration. At age 3 years, he showed severe spasticity and seizures. He had no organomegaly and normal maculae. Radiographic studies showed early beaking of the lumbar vertebrae. Laboratory studies showed vacuolated lymphocytes in peripheral blood smear and bone marrow, glycolipid-containing ganglion cells, and decreased beta-galactosidase activity. Detailed biochemical studies on beta-galactosidase obtained from liver tissue of this patient and a patient with type I disease suggested that they are related and likely allelic disorders. </p><p>Pinsky et al. (1974) described a milder variant of GM1-gangliosidosis with more beta-galactosidase activity than observed in types I or II. The patient developed seizures at age 5 months, followed by minimal hepatosplenomegaly, brisk reflexes, lower limb scissoring, and vacuolated cells on bone marrow biopsy. At age 8 months, her peripheral leukocyte GLB1 activity was one-tenth of normal values. She showed an unusual clinical course. There was no more seizure activity after age 5 months, she walked at age 22 months, and began to speak at age 3 years. Bone development was normal until age 3 when medullary cavities of the bones of the upper extremity and ribs widened. Given the residual enzyme activity and relatively milder phenotype, Pinsky et al. (1974) classified her as having a 'third' type of GM1-gangliosidosis. However, given the early age at onset of the first symptoms, she is noted here as having the juvenile type. </p><p>Caciotti et al. (2003) reported a child with late-infantile GM1-gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. At 12 months, he could stand and was on the verge of walking. During his third year of life, blindness, increasing pain, and spasticity were noted. By the age of 5 years, he had the onset of dramatic episodes of fever and hypertension of unknown etiology. At the age of 6 years, he developed renal failure and succumbed to the illness at the age of 6.5 years. He never showed a cherry-red spot of the macula. The clinical characterization of this patient as late-infantile GM1 gangliosidosis was in keeping with a clear-cut division between the 2 subforms of the type II phenotype. </p>
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<p>In 4 Japanese patients with the juvenile form of GM1-gangliosidosis, Nishimoto et al. (1991) identified a mutation in the GLB1 gene (R201C; 611458.0003). One patient was homozygous for the mutation; the second mutant allele could not be identified in the 3 remaining patients. All had detectable GLB1 mRNA. Yoshida et al. (1991) identified a heterozygous R201C mutation in a Japanese patient with the late-infantile form of GM1-gangliosidosis. Beta-galactosidase activity was 3% of normal controls. </p><p>In a patient with the late-infantile form of GM1-gangliosidosis, Caciotti et al. (2003) identified compound heterozygosity for 2 mutations in the GLB1 gene (611458.0003; 611458.0022). </p>
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<p>Holmes and O'Brien (1978) studied the feline disorder which is similar to type II generalized gangliosidosis. The residual enzyme was not only altered in its catalytic and physicochemical characteristics but was also different from normal antigenically. </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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Lowden et al. (1974); O'Brien (1969); Suzuki and Kamoshita (1969);
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Yamamoto et al. (1974)
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<strong>REFERENCES</strong>
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Caciotti, A., Bardelli, T., Cunningham, J., D'Azzo, A., Zammarchi, E., Morrone, A.
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<strong>Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.</strong>
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Hum. Genet. 113: 44-50, 2003.
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[PubMed: 12644936]
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[Full Text: https://doi.org/10.1007/s00439-003-0930-8]
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<p class="mim-text-font">
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Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S.
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<strong>Late infantile systemic lipidosis (major monosialogangliosidosis; delineation of two types).</strong>
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Neurology 18: 340-347, 1968.
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[PubMed: 4173446]
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[Full Text: https://doi.org/10.1212/wnl.18.4.340]
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<li>
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<p class="mim-text-font">
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Holmes, E. W., O'Brien, J. S.
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<strong>Feline Gm(1) gangliosidosis: characterization of the residual liver acid beta-galactosidase.</strong>
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Am. J. Hum. Genet. 30: 505-515, 1978.
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[PubMed: 83795]
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<p class="mim-text-font">
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Kint, J. A., Dacremont, G., Vlietinck, R.
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<strong>Type II Gm(1) gangliosidosis?</strong>
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Lancet 294: 108-109, 1969. Note: Originally Volume 2.
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[PubMed: 4182749]
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[Full Text: https://doi.org/10.1016/s0140-6736(69)92420-9]
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<p class="mim-text-font">
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Lowden, J. A., Callahan, J. W., Norman, M. G., Thain, M., Prichard, J. S.
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<strong>Juvenile Gm1-gangliosidosis: occurrence with absence of two beta-galactosidase components.</strong>
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Arch. Neurol. 31: 200-203, 1974.
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[PubMed: 4368854]
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[Full Text: https://doi.org/10.1001/archneur.1974.00490390082010]
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<p class="mim-text-font">
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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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Am. J. Hum. Genet. 49: 566-574, 1991.
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[PubMed: 1909089]
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O'Brien, J. S., Ho, M. W., Veath, M. L., Wilson, J. F., Myers, G., Opitz, J. M., ZuRhein, G. M., Spranger, J. W., Hartmann, H. A., Haneberg, B., Grosse, F. R.
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<strong>Juvenile Gm1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.</strong>
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Clin. Genet. 3: 411-434, 1972.
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[PubMed: 4650864]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1972.tb01476.x]
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<p class="mim-text-font">
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O'Brien, J. S.
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<strong>Five gangliosidoses. (Letter)</strong>
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Lancet 294: 805 only, 1969. Note: Originally Volume 2.
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[PubMed: 4186052]
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[Full Text: https://doi.org/10.1016/s0140-6736(69)90524-8]
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Pinsky, L., Miller, J., Shanfield, B., Watters, G. V., Wolfe, L. S.
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<strong>Gm(1) gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observation on a third variant.</strong>
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Am. J. Hum. Genet. 26: 563-577, 1974.
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[PubMed: 4420522]
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<p class="mim-text-font">
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Singer, H. S., Schafer, I. A.
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<strong>Clinical and enzymatic variations in Gm(1) generalized gangliosidosis.</strong>
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Am. J. Hum. Genet. 24: 454-463, 1972.
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[PubMed: 5031983]
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<p class="mim-text-font">
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Suzuki, K., Kamoshita, S.
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<strong>Chemical pathology of Gm(1)-gangliosidosis (generalized gangliosidosis).</strong>
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J. Neuropath. Exp. Neurol. 28: 25-73, 1969.
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[PubMed: 4237219]
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[Full Text: https://doi.org/10.1097/00005072-196901000-00003]
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Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., Scriver, C. R.
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<strong>Gm(1)-gangliosidosis without chondrodystrophy or visceromegaly.</strong>
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Neurology 20: 23-43, 1970.
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[PubMed: 4243740]
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[Full Text: https://doi.org/10.1212/wnl.20.1.23]
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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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Arch. Intern. Med. 134: 627-634, 1974.
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[PubMed: 4278184]
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[Full Text: https://doi.org/10.1001/archinte.134.4.627]
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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: 1907800]
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Cassandra L. Kniffin - reorganized : 10/1/2007<br>Cassandra L. Kniffin - updated : 9/27/2007
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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