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- #252600 - MUCOLIPIDOSIS III ALPHA/BETA
- OMIM
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<span class="h4">#252600</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/252600"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS256550"> <strong>Phenotypic Series</strong> </a>
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<a href="#nomenclature">Nomenclature</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="#otherFeatures">Other Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUCOLIPIDOSIS III ALPHA/BETA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23158&Typ=Pat" title="Mucolipidosis type III alpha/beta" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucolipidosis type III alp…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mucolipidosis type III&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1828/" 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>
<div><a href="https://www.diseaseinfosearch.org/x/4909" 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>
<div><a href="https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=252600[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>
<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;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423461" title="Mucolipidosis type III alpha/beta" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mucolipidosis type III alp…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mucolipidosis type III</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5a6532b6-bcc1-4188-9cd5-102a3767bcb0/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0080071" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/252600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA001248/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:252600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 65764006<br />
<strong>ORPHA:</strong> 423461, 577<br />
<strong>DO:</strong> 0080071<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
252600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUCOLIPIDOSIS III ALPHA/BETA
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
ML III ALPHA/BETA<br />
MUCOLIPIDOSIS IIIA; ML IIIA<br />
MUCOLIPIDOSIS III<br />
ML III<br />
PSEUDO-HURLER POLYDYSTROPHY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, 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/12/731?start=-3&limit=10&highlight=731">
12q23.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Mucolipidosis III alpha/beta
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252600"> 252600 </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">
GNPTAB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607840"> 607840 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/252600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS256550" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/252600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/252600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mildly coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854765</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Corneal clouding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521719</a>, <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Mild retinopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854906</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29555009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29555009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000488" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000488</a>]</span><br /> -
Hyperopic astigmatism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449734001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449734001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000484</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000484</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Aortic insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60234000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60234000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001659</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short, thick clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854904&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854904</a>]</span><br /> -
Wide, slightly short ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854905&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854905</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>
<span class="mim-font">
- Dysostosis multiplex <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254069004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254069004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Premature closure of cranial sutures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br /> -
J-shaped sella turcica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854718</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span><br /> -
Mandibular prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Absence of dens <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854907</a>]</span><br /> -
Vertebral beaking <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854908</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">
- Flaring of iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span><br /> -
Shallow acetabular fossae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854910&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854910</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003182</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003182</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Shoulder stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249918006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249918006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241042&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241042</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009742</a>]</span><br /> -
Broad metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854911</a>]</span><br /> -
Short long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003026</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hand stiffness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239840</a>]</span><br /> -
Claw-hand deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span><br /> -
Carpal tunnel syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57406009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57406009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/354.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">354.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007286</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</a>]</span><br /> -
Soft tissue swelling of interphalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854913&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854913</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006162</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006162</a>]</span><br /> -
Small, irregular carpal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854914</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Skin thickening <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271815000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271815000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001072</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">
- Learning disabilities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1855002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751265</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br /> -
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
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- No mucopolysacchariduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854897</a>]</span><br /> -
Increased serum beta-hexosaminidase (10-20x) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854915</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003333</a>]</span><br /> -
Increased serum iduronate sulfatase (10-20x) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854916&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854916</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003538</a>]</span><br /> -
Increased serum aryl-sulfatase A (10-20x) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854917</a>]</span><br /> -
Deficiency of N-acetylglucosamine-1-phosphotransferase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70199000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70199000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020725</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003264</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Symptoms noted at 2-3 years<br /> -
Allelic to mucolipidosis II (<a href="/entry/252500">252500</a>)<br />
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<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, <a href="/entry/607840#0001">607840.0001</a>)<br />
</span>
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<h5>
Mucolipidosis
- <a href="/phenotypicSeries/PS256550">PS256550</a>
- 6 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
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<td>
<span class="mim-font">
<a href="/geneMap/6/339?start=-3&limit=10&highlight=339"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256550"> Sialidosis, type II </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">
<a href="/entry/256550"> 256550 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608272"> NEU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608272"> 608272 </a>
</span>
</td>
</tr>
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<td>
<span class="mim-font">
<a href="/geneMap/6/339?start=-3&limit=10&highlight=339"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256550"> Sialidosis, type I </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">
<a href="/entry/256550"> 256550 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608272"> NEU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608272"> 608272 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/731?start=-3&limit=10&highlight=731"> 12q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252600"> Mucolipidosis III alpha/beta </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">
<a href="/entry/252600"> 252600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607840"> GNPTAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607840"> 607840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/731?start=-3&limit=10&highlight=731"> 12q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252500"> Mucolipidosis II alpha/beta </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">
<a href="/entry/252500"> 252500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607840"> GNPTAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607840"> 607840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/59?start=-3&limit=10&highlight=59"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252605"> Mucolipidosis III gamma </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">
<a href="/entry/252605"> 252605 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607838"> GNPTG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607838"> 607838 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/206?start=-3&limit=10&highlight=206"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/252650"> Mucolipidosis IV </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">
<a href="/entry/252650"> 252650 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605248"> MCOLN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605248"> 605248 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that mucolipidosis III alpha/beta, also known as pseudo-Hurler polydystrophy, is caused by homozygous or compound heterozygous mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase (GNPTAB; <a href="/entry/607840">607840</a>).</p><p>Mucolipidosis II alpha/beta, or I-cell disease (<a href="/entry/252500">252500</a>), is also caused by mutations in the GNPTAB gene. A mucolipidosis III variant, ML III gamma (<a href="/entry/252605">252605</a>), is caused by mutation in the gene encoding the gamma subunit, GNPTG (<a href="/entry/607838">607838</a>).</p>
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<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p><a href="#5" class="mim-tip-reference" title="Cathey, S. S., Kudo, M., Tiede, S., Raas-Rothschild, A., Braulke, T., Beck, M., Taylor, H. A., Canfield, W. M., Leroy, J. G., Neufeld, E. F., McKusick, V. A. &lt;strong&gt;Molecular order of mucolipidosis II and III nomenclature. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 512-513, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18203164/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18203164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32193&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18203164">Cathey et al. (2008)</a> reported an updated nomenclature classification system for mucolipidosis II and III. ML II was renamed ML II alpha/beta; ML IIIA was renamed ML III alpha/beta; and ML IIIC was renamed ML III gamma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Mucolipidosis type III alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by <a href="#21" class="mim-tip-reference" title="Paik, K. H., Song, S. M., Ki, C. S., Yu, H.-W., Kim, J. S., Min, K. H., Chang, S. H., Yoo, E. J., Lee, I. J., Kwan, E. K., Han, S. J., Jin, D.-K. &lt;strong&gt;Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.&lt;/strong&gt; Hum. Mutat. 26: 308-314, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16116615/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16116615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16116615">Paik et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116615" 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>Under the designation 'pseudo-polydystrophie de Hurler,' <a href="#16" class="mim-tip-reference" title="Maroteaux, P., Lamy, M. &lt;strong&gt;La pseudo-polydystrophie de Hurler.&lt;/strong&gt; Presse Med. 74: 2889-2892, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4958870/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4958870&lt;/a&gt;]" pmid="4958870">Maroteaux and Lamy (1966)</a> described 4 cases with many of the features of the Hurler syndrome but a much slower clinical evolution and no mucopolysacchariduria. The bone marrow contained cells reminiscent of those in the Hurler syndrome but vacuoles were empty. Hypoplasia of the odontoid was noted in at least 1 case. The authors pointed out that this was probably the condition present in a patient listed among 'cases defying classification' in the report of <a href="#17" class="mim-tip-reference" title="McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumenee, A. E. &lt;strong&gt;The genetic mucopolysaccharidoses.&lt;/strong&gt; Medicine 44: 445-483, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4221470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4221470&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-196511000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4221470">McKusick et al. (1965)</a>. At least 1 brother-sister pair proved to have a form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome; <a href="/entry/253200">253200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4958870+4221470" 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 Freiburg, Germany, <a href="#23" class="mim-tip-reference" title="Schinz, H. R., Furtwaengler, A. &lt;strong&gt;Zur Kenntnis einer hereditaeren Osteoarthropathie mit rezessivem Erbgang.&lt;/strong&gt; Dtsch. Z. Chir. 207: 398-416, 1928."None>Schinz and Furtwaengler (1928)</a> described a sibship of 11, the offspring of a first-cousin marriage, in which a man then 29 years old and 3 of his sisters were identically affected by a disorder in which a striking feature was stiff joints. Flexion contracture in the fingers and toes was combined with reduced mobility in the ankles, wrists, knees, elbows, hips, shoulders and spine. The face was red with somewhat prominent forehead, broad nose and fleshy tongue. Intelligence was normal. Umbilical hernia was present in the male, whose height was 61.4 inches. X-rays showed thick skull, short posterior cranial fossa, and prominent external and internal occipital protuberance. A striking feature was extensive destruction or disturbance in the development of the carpal and tarsal bones. <a href="#12" class="mim-tip-reference" title="Horsch, K. &lt;strong&gt;Ueber hereditaere degenerative Osteoarthropathie.&lt;/strong&gt; Arch. Orthop. Unfallchir. 34: 536-540, 1934."None>Horsch (1934)</a> described a sister from the same sibship whose features, including those in the carpal and tarsal bones, were identical. The brother was restudied with description of cysts in the head of the humerus and the epiphysis of the radius and digits.</p><p><a href="#14" class="mim-tip-reference" title="Langer, L. O., Jr., Kronenberg, R. S., Gorlin, R. J. &lt;strong&gt;A case simulating Hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria: a proposed classification of the various forms of the syndrome and similar diseases.&lt;/strong&gt; Am. J. Med. 40: 448-457, 1966."None>Langer et al. (1966)</a> described a 61-year-old male who appeared to have the same disorder, including changes in the joints, carpal and tarsal bones, and cornea. The urine contained no excess of acid mucopolysaccharide but did have an excess of a glycoprotein. Not surprisingly, in view of the progressive stiffness of the hands and flexion contractures of fingers accompanied by other musculoskeletal changes, these patients are often thought to have a rheumatologic disorder (<a href="#3" class="mim-tip-reference" title="Brik, R., Mandel, H., Aizin, A., Goldscher, D., Ziegler, M., Bialik, V., Berant, M. &lt;strong&gt;Mucolipidosis III presenting as a rheumatological disorder.&lt;/strong&gt; J. Rheum. 20: 133-136, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8441145/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8441145&lt;/a&gt;]" pmid="8441145">Brik et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8441145" 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 sibs reported by <a href="#27" class="mim-tip-reference" title="Steinbach, H. L., Preger, L., Williams, H. E., Cohen, P. &lt;strong&gt;The Hurler syndrome without abnormal mucopolysacchariduria.&lt;/strong&gt; Radiology 90: 472-478, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4230591/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4230591&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1148/90.3.472&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4230591">Steinbach et al. (1968)</a> appear to have had this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4230591" 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="Freisinger, P., Padovani, J. C., Maroteaux, P. &lt;strong&gt;An atypical form of mucolipidosis III.&lt;/strong&gt; J. Med. Genet. 29: 834-836, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1453439/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1453439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.11.834&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1453439">Freisinger et al. (1992)</a> described a sister and brother with a very mild form of ML III, manifested only by isolated involvement of the hips and very mild abnormalities of the spine. Discrete opacifications of the cornea were found on slit-lamp examination. Serum levels of several lysosomal hydrolases were considerably increased. Mild disease was reported also by <a href="#34" class="mim-tip-reference" title="Ward, C., Singh, R., Slade, C., Fensom, A. H., Fahmy, A., Semrin, A., Sjovall, A., Talat, A., Hasilik, A., Klein, I., Benson, P. F. &lt;strong&gt;A mild form of mucolipidosis type III in four Baluch siblings.&lt;/strong&gt; Clin. Genet. 44: 313-319, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8131303/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8131303&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1993.tb03907.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8131303">Ward et al. (1993)</a> in 4 sibs from Baluchistan. Ranging from 7 to 12 years of age, they showed claw hands, joint stiffness, aortic valve involvement and radiologic dysostosis multiplex. The patients reported by <a href="#34" class="mim-tip-reference" title="Ward, C., Singh, R., Slade, C., Fensom, A. H., Fahmy, A., Semrin, A., Sjovall, A., Talat, A., Hasilik, A., Klein, I., Benson, P. F. &lt;strong&gt;A mild form of mucolipidosis type III in four Baluch siblings.&lt;/strong&gt; Clin. Genet. 44: 313-319, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8131303/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8131303&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1993.tb03907.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8131303">Ward et al. (1993)</a> were thought to fall into complementation group C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1453439+8131303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Tylki-Szymanska, A., Czartoryska, B., Groener, J. E. M., Lugowska, A. &lt;strong&gt;Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).&lt;/strong&gt; Am. J. Med. Genet. 108: 214-218, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11891688/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11891688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10224&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11891688">Tylki-Szymanska et al. (2002)</a> reported 3 patients with ML III who demonstrated the clinical variability of this condition and compared their biochemical results and clinical pictures with cases in the literature. One patient was a 13-year-old girl whose only symptoms were joint stiffness of the hands. The other 2 patients were a 5-year-old boy with a severe form of ML III and his 2-year-old sister who was less affected than he was at the same age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891688" 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 a 39-year-old patient with pseudo-Hurler polydystrophy, <a href="#25" class="mim-tip-reference" title="Shinkai, H., Katagiri, K., Ishii, Y., Takayasu, S. &lt;strong&gt;Connective tissue naevus with pseudo-Hurler polydystrophy.&lt;/strong&gt; Brit. J. Derm. 130: 528-533, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8186124/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8186124&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1994.tb03392.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8186124">Shinkai et al. (1994)</a> observed a huge connective tissue nevus on his back. The lesional skin was composed of densely packed, coarse collagen fibers, which were immunohistochemically found to consist of type I, type III, and type VI collagens. The amount of elastic fibers was moderately reduced. The glucosaminoglycan content of lesional skin was similar to that in a normal control. Activities of several glycosidases were markedly decreased in cultured fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8186124" 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>It is possible that some cases of ML II (<a href="/entry/252500">252500</a>) and some cases of ML III represent homozygosity for different mutant genes at the same locus, namely, one determining a 'recognition marker' for multiple lysosomal enzymes. Sialidase deficiency similar to that in ML II was found in ML III by <a href="#29" class="mim-tip-reference" title="Thomas, G. H., Tiller, G. E., Jr., Reynolds, L. W., Miller, C. S., Bace, J. W. &lt;strong&gt;Sialidase deficiency in mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy). (Abstract)&lt;/strong&gt; 5th International Congress of Human Genetics, Mexico City 1976."None>Thomas et al. (1976)</a>. Furthermore, <a href="#2" class="mim-tip-reference" title="Berman, E. R., Kohn, G., Yatziv, S., Stein, H. &lt;strong&gt;Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis III (pseudo-Hurler polydystrophy).&lt;/strong&gt; Clin. Chim. Acta 52: 115-124, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4208016/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4208016&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0009-8981(74)90394-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4208016">Berman et al. (1974)</a> found quantitatively and qualitatively abnormal glycoprotein components in the urine in 2 sibs with ML II. Both ML II and ML III show a marked deficiency of fibroblast UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. As a consequence, the common phosphomannosyl recognition marker of acid hydrolases is not generated, and these enzymes are not directed to the lysosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4208016" 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="#33" class="mim-tip-reference" title="Varki, A. P., Reitman, M. L., Kornfeld, S. &lt;strong&gt;Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.&lt;/strong&gt; Proc. Nat. Acad. Sci. 78: 7773-7777, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6461005/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6461005&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.78.12.7773&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6461005">Varki et al. (1981)</a> developed a sensitive assay for the transferase that uses alpha-methyl mannoside as the acceptor. With the assay, a difference in enzyme activity was found to distinguish the 2 mucolipidoses. Enzyme activity was less than 0.4-2.0 pmol-mg per hr in ML II and 2.9-39.4 pmol-mg per hr in ML III. The difference in clinical severity may be explained thereby. <a href="#33" class="mim-tip-reference" title="Varki, A. P., Reitman, M. L., Kornfeld, S. &lt;strong&gt;Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.&lt;/strong&gt; Proc. Nat. Acad. Sci. 78: 7773-7777, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6461005/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6461005&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.78.12.7773&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6461005">Varki et al. (1981)</a> found that the fibroblasts from 2 sibs with ML III (GM 3391 and GM 3392) had normal enzyme activity when measured with the assay using alpha-methyl mannose as acceptor but a low activity when assayed with endogenous acceptor. Mixing experiments showed the presence of endogenous acceptors and lack of inhibitors in the mutant fibroblasts. The authors concluded that the N-acetylglucosaminylphosphotransferase of the mutant fibroblasts has normal catalytic activity but is defective in its ability to recognize lysosomal enzymes as specific substrates for phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6461005" 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>There is more than one cause of the pseudo-Hurler polydystrophy phenotype. Of 18 patients studied by <a href="#13" class="mim-tip-reference" title="Kelly, T. E., Thomas, G. H., Taylor, H. A., Jr., McKusick, V. A., Sly, W. S., Glaser, J. H., Robinow, M., Luzzatti, L., Espiritu, C., Feingold, M., Bull, M. J., Ashenhurst, E. M., Ives, E. J. &lt;strong&gt;Mucolipidosis III (pseudo-Hurler polydystrophy): clinical and laboratory studies in a series of 12 patients.&lt;/strong&gt; Johns Hopkins Med. J. 137: 156-175, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/810612/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;810612&lt;/a&gt;]" pmid="810612">Kelly et al. (1975)</a>, only 12 of them met the biochemical and ultrastructural criteria for ML III. One apparently typical case proved to have a form of the Maroteaux-Lamy syndrome. <a href="#9" class="mim-tip-reference" title="Gericke, G. J. &lt;strong&gt;Mucolipidosis III: two patients displaying genetic pleiotropism.&lt;/strong&gt; S. Afr. Med. J. 51: 140-144, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/850847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;850847&lt;/a&gt;]" pmid="850847">Gericke (1977)</a> described the disorder in 2 sisters, aged 27 and 12 years. Other cases probably represent some disorder not cataloged here. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=810612+850847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Gatti, R., Lombardo, C., Cardo, P. P. &lt;strong&gt;Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.&lt;/strong&gt; Hum. Genet. 70: 71-73, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3997153/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3997153&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00389462&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3997153">Gatti et al. (1985)</a> concluded that 3 children with mucolipidosis III were homozygous also for the common variant alpha-L-fucosidase trait (<a href="/entry/136820">136820</a>), which is accompanied by low activity of the enzyme in plasma but no clinical abnormality as a rule. Thus, plasma alpha-L-fucosidase levels, which are usually elevated in ML III, were normal in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3997153" 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>By cell complementation studies, <a href="#10" class="mim-tip-reference" title="Gravel, R. A., Gravel, Y. L., Miller, A. L., Lowden, J. A. &lt;strong&gt;Genetic complementation analysis of I-cell disease and pseudo-Hurler polydystrophy. In: Callahan, J. W.; Lowden, J. A.: Lysosomes and Lysosomal Storage Diseases.&lt;/strong&gt; New York: Raven Press (pub.) 1981. Pp. 289-298."None>Gravel et al. (1981)</a> and <a href="#11" class="mim-tip-reference" title="Honey, N. K., Mueller, O. T., Little, L. E., Miller, A. L., Shows, T. B. &lt;strong&gt;Mucolipidosis III is genetically heterogeneous.&lt;/strong&gt; Proc. Nat. Acad. Sci. 79: 7420-7424, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6961420/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6961420&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.79.23.7420&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6961420">Honey et al. (1982)</a> demonstrated the existence of 3 complementation groups, designated A, B, and C. Group A appears to be the most common of the 3; many I-cell disease patients fall within this group (<a href="#19" class="mim-tip-reference" title="Mueller, O. T., Honey, N. K., Little, L. E., Miller, A. L., Shows, T. B. &lt;strong&gt;Mucolipidosis II and III: the genetic relationships between two disorders of lysosomal enzyme biosynthesis.&lt;/strong&gt; J. Clin. Invest. 72: 1016-1023, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6309902/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6309902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI111025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6309902">Mueller et al., 1983</a>). Group C is less common and group B is probably very rare. Patients with cells showing normal phosphotransferase activity toward alpha-methylmannoside as an acceptor are within complementation group C, and patients with cells showing deficient activity toward both alpha-methylmannoside and lysosomal enzymes are in groups A and B. A possible explanation (<a href="#15" class="mim-tip-reference" title="Little, L. E., Mueller, O. T., Honey, N. K., Shows, T. B., Miller, A. L. &lt;strong&gt;Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.&lt;/strong&gt; J. Biol. Chem. 261: 733-738, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3001079/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3001079&lt;/a&gt;]" pmid="3001079">Little et al., 1986</a>) of these and other findings is that the phosphotransferase possesses 2 domains: a catalytic site (which is defective in group A patients) and a region important for recognition of lysosomal enzymes (which is defective in group C patients). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6309902+6961420+3001079" 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="#22" class="mim-tip-reference" title="Robinson, C., Baker, N., Noble, J., King, A., David, G., Sillence, D., Hofman, P., Cundy, T. &lt;strong&gt;The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment.&lt;/strong&gt; J. Inherit. Metab. Dis. 25: 681-693, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12705498/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12705498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1022935115323&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12705498">Robinson et al. (2002)</a> reported 2 sibs with ML III that suggested the presence of a distinct metabolic bone disorder. Biochemical indices of bone turnover were increased, and transiliac bone biopsy demonstrated both trabecular osteopenia and marked subperiosteal bone resorption. Intravenous pamidronate treatment given monthly for a year was well tolerated and produced dramatic clinical effects, with reduction in bone pain and improvements in mobility, despite incomplete suppression of bone resorption as assessed by biochemical, radiographic, and histologic criteria. <a href="#22" class="mim-tip-reference" title="Robinson, C., Baker, N., Noble, J., King, A., David, G., Sillence, D., Hofman, P., Cundy, T. &lt;strong&gt;The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment.&lt;/strong&gt; J. Inherit. Metab. Dis. 25: 681-693, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12705498/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12705498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1022935115323&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12705498">Robinson et al. (2002)</a> suggested that bisphosphonate therapy may have an important role in the management of bone pain in ML III, as it does in the related lysosomal disorder of Gaucher disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12705498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of mucolipidosis III alpha/beta is autosomal recessive (<a href="#26" class="mim-tip-reference" title="Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., Kornfeld, S. Steinmann, B. &lt;strong&gt;A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.&lt;/strong&gt; Am. J. Med. Genet. 132A: 369-375, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15633164/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15633164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30498&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15633164">Steet et al., 2005</a>, <a href="#30" class="mim-tip-reference" title="Tiede, S., Muschol, N., Reutter, G., Cantz, M., Ullrich, K., Braulke, T. &lt;strong&gt;Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.&lt;/strong&gt; Am. J. Med. Genet. 137A: 235-240, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16094673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16094673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30868&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16094673">Tiede et al., 2005</a>, <a href="#21" class="mim-tip-reference" title="Paik, K. H., Song, S. M., Ki, C. S., Yu, H.-W., Kim, J. S., Min, K. H., Chang, S. H., Yoo, E. J., Lee, I. J., Kwan, E. K., Han, S. J., Jin, D.-K. &lt;strong&gt;Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.&lt;/strong&gt; Hum. Mutat. 26: 308-314, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16116615/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16116615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16116615">Paik et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16094673+16116615+15633164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#4" class="mim-tip-reference" title="Canfield, W. M., Bao, M., Pan, J., Brewer, A. D. K., Pan, H., Roe, B., Raas-Rothschild, A. &lt;strong&gt;Mucolipidosis II and mucolipidosis IIIA are caused by mutations in the GlcNAc-phosphotransferase alpha/beta gene on chromosome 12p. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 63: A15 only, 1998."None>Canfield et al. (1998)</a> found that in 2 of 2 patients with mucolipidosis IIIA, the GlcNAc-phosphotransferase alpha/beta transcript (GNPTAB; <a href="/entry/607840">607840</a>) was present but greatly reduced. In 4 of 4 patients with mucolipidosis II, the GNPTAB transcript was absent. In all ML II and ML III patients examined, the GNPTAG transcript (<a href="/entry/607838">607838</a>) was present at normal levels.</p><p>In a 47-year-old female who presented with dilated cardiomyopathy and mild neuropathy and was found to have mucolipidosis III, <a href="#26" class="mim-tip-reference" title="Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., Kornfeld, S. Steinmann, B. &lt;strong&gt;A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.&lt;/strong&gt; Am. J. Med. Genet. 132A: 369-375, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15633164/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15633164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30498&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15633164">Steet et al. (2005)</a> identified a homozygous splice site mutation in the GNPTAB gene (<a href="/entry/607840#0001">607840.0001</a>). The patient, who exhibited none of the connective tissue anomalies characteristic of mucolipidosis III, was found to have a minimal amount of functional enzyme present in fibroblasts. The authors stated that this was the first example of the disease presenting in an adult patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633164" 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 14-year-old boy who had mild clinical, radiographic, and biochemical findings of mucolipidosis III, including joint stiffness, dysostosis multiplex, and elevated serum levels of lysosomal enzymes but no mental retardation, corneal clouding, or valvular heart disease, <a href="#30" class="mim-tip-reference" title="Tiede, S., Muschol, N., Reutter, G., Cantz, M., Ullrich, K., Braulke, T. &lt;strong&gt;Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.&lt;/strong&gt; Am. J. Med. Genet. 137A: 235-240, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16094673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16094673&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30868&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16094673">Tiede et al. (2005)</a> identified homozygosity for a missense mutation in the GNPTAB gene (<a href="/entry/607840#0002">607840.0002</a>). The patient was also homozygous for an ala663-to-gly substitution in the GNPTAB gene that was deemed a polymorphism because it was found in 5% of normal alleles. Both parents were heterozygous for both mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16094673" 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 2 unrelated Korean girls with type IIIA mucolipidosis, <a href="#21" class="mim-tip-reference" title="Paik, K. H., Song, S. M., Ki, C. S., Yu, H.-W., Kim, J. S., Min, K. H., Chang, S. H., Yoo, E. J., Lee, I. J., Kwan, E. K., Han, S. J., Jin, D.-K. &lt;strong&gt;Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.&lt;/strong&gt; Hum. Mutat. 26: 308-314, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16116615/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16116615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16116615">Paik et al. (2005)</a> identified compound heterozygosity for 3 different mutations in the GNPTAB gene (<a href="/entry/607840#0008">607840.0008</a>-<a href="/entry/607840#0009">607840.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116615" 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="Bargal, R., Zeigler, M., Abu-Libdeh, B., Zuri, V., Mandel, H., Neriah, Z. B., Stewart, F., Elcioglu, N., Hindi, T., Le Merrer, M., Bach, G., Raas-Rothschild, A. &lt;strong&gt;When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients.&lt;/strong&gt; Molec. Genet. Metab. 88: 359-363, 2006. Note: Erratum: Molec. Genet. Metab. 91: 299 only, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16630736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16630736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2006.03.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16630736">Bargal et al. (2006)</a> studied GNPTA mutations in 24 patients. They suggested that there is a clinical continuum between ML III and ML II, and that the classification of these diseases should be based on the age of onset, clinical symptoms, and severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16630736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<p><a href="#20" class="mim-tip-reference" title="Otomo, T., Muramatsu, T., Yorifuji, T., Okuyama, T., Nakabayashi, H., Fukao, T., Ohura, T., Yoshino, M., Tanaka, A., Okamoto, N., Inui, K., Ozono, K., Sakai, N. &lt;strong&gt;Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.&lt;/strong&gt; J. Hum. Genet. 54: 145-151, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19197337/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19197337&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2009.3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19197337">Otomo et al. (2009)</a> identified 18 GNPTAB mutations, including 14 novel mutations, among 25 unrelated Japanese patients with ML II and 15 Japanese patients with ML III. The most common mutations were R1189X (<a href="/entry/607840#0004">607840.0004</a>), which was found in 41% of alleles, and F374L (<a href="/entry/607840#0015">607840.0015</a>), which was found in 10% of alleles. Homozygotes or compound heterozygotes of nonsense and frameshift mutations contributed to the more severe phenotype. In all, 73 GNPTAB mutations were detected in the 80 alleles. In a review of the reported clinical features, most ML II patients had impairment in standing alone, walking without support, and speaking single words compared to those with ML III. The frequencies of heart murmur, inguinal hernia, and hepatomegaly and/or splenomegaly did not differ between ML II and III patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19197337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. &lt;strong&gt;Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.&lt;/strong&gt; Clin. Genet. 76: 76-84, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19659762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19659762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2009.01185.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19659762">Encarnacao et al. (2009)</a> identified GNPTAB mutations in 9 mostly Portuguese patients with ML II. Eight of 9 patients had a nonsense or frameshift mutation, the most common being a 2-bp deletion (<a href="/entry/607840#0011">607840.0011</a>) that was found in 45% of the mutant alleles; one patient was homozygous for a missense mutation. Three additional patients with a less severe phenotype consistent with ML III had missense mutations. <a href="#6" class="mim-tip-reference" title="Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S. &lt;strong&gt;Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.&lt;/strong&gt; Clin. Genet. 76: 76-84, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19659762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19659762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2009.01185.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19659762">Encarnacao et al. (2009)</a> concluded that patients with ML II alpha/beta are almost all associated with the presence of nonsense or frameshift mutations in homozygosity, whereas the presence of at least 1 mild mutation in the GNPTAB gene is associated with ML III alpha/beta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" 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>
</span>
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<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#McKusick1972" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1972.">McKusick (1972)</a>; <a href="#Schmidt1938" class="mim-tip-reference" title="Schmidt, R. &lt;strong&gt;Eine bisher nicht beschriebene Form familiaerer Hornhautentartung in Verbindung mit Osteoarthropathie.&lt;/strong&gt; Klin. Monatsbl. Augenheilkd. 100: 616-620, 1938.">Schmidt (1938)</a>; <a href="#Strecker1977" class="mim-tip-reference" title="Strecker, G., Peers, M.-C., Michalski, J.-C., Hondi-Assah, T., Fournet, B., Spik, G., Montreuil, J., Farriaux, J.-P., Maroteaux, P., Durand, P. &lt;strong&gt;Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis (mucolipidosis II and two new types of mucolipidosis).&lt;/strong&gt; Europ. J. Biochem. 75: 391-403, 1977.">Strecker et al. (1977)</a>; <a href="#Traboulsi1986" class="mim-tip-reference" title="Traboulsi, E. I., Maumenee, I. H. &lt;strong&gt;Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy).&lt;/strong&gt; Am. J. Ophthal. 102: 592-597, 1986.">Traboulsi
and Maumenee (1986)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Bargal2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bargal, R., Zeigler, M., Abu-Libdeh, B., Zuri, V., Mandel, H., Neriah, Z. B., Stewart, F., Elcioglu, N., Hindi, T., Le Merrer, M., Bach, G., Raas-Rothschild, A.
<strong>When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients.</strong>
Molec. Genet. Metab. 88: 359-363, 2006. Note: Erratum: Molec. Genet. Metab. 91: 299 only, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16630736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16630736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16630736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ymgme.2006.03.003" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Berman1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berman, E. R., Kohn, G., Yatziv, S., Stein, H.
<strong>Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Clin. Chim. Acta 52: 115-124, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4208016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4208016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4208016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0009-8981(74)90394-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Brik1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brik, R., Mandel, H., Aizin, A., Goldscher, D., Ziegler, M., Bialik, V., Berant, M.
<strong>Mucolipidosis III presenting as a rheumatological disorder.</strong>
J. Rheum. 20: 133-136, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8441145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8441145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8441145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Canfield1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Canfield, W. M., Bao, M., Pan, J., Brewer, A. D. K., Pan, H., Roe, B., Raas-Rothschild, A.
<strong>Mucolipidosis II and mucolipidosis IIIA are caused by mutations in the GlcNAc-phosphotransferase alpha/beta gene on chromosome 12p. (Abstract)</strong>
Am. J. Hum. Genet. 63: A15 only, 1998.
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Cathey2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cathey, S. S., Kudo, M., Tiede, S., Raas-Rothschild, A., Braulke, T., Beck, M., Taylor, H. A., Canfield, W. M., Leroy, J. G., Neufeld, E. F., McKusick, V. A.
<strong>Molecular order of mucolipidosis II and III nomenclature. (Letter)</strong>
Am. J. Med. Genet. 146A: 512-513, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32193" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Encarnacao2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S.
<strong>Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.</strong>
Clin. Genet. 76: 76-84, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19659762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19659762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19659762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="7" class="mim-anchor"></a>
<a id="Freisinger1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Freisinger, P., Padovani, J. C., Maroteaux, P.
<strong>An atypical form of mucolipidosis III.</strong>
J. Med. Genet. 29: 834-836, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1453439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1453439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1453439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.29.11.834" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Gatti1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gatti, R., Lombardo, C., Cardo, P. P.
<strong>Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.</strong>
Hum. Genet. 70: 71-73, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3997153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3997153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3997153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00389462" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Gericke1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gericke, G. J.
<strong>Mucolipidosis III: two patients displaying genetic pleiotropism.</strong>
S. Afr. Med. J. 51: 140-144, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/850847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">850847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=850847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Gravel1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gravel, R. A., Gravel, Y. L., Miller, A. L., Lowden, J. A.
<strong>Genetic complementation analysis of I-cell disease and pseudo-Hurler polydystrophy. In: Callahan, J. W.; Lowden, J. A.: Lysosomes and Lysosomal Storage Diseases.</strong>
New York: Raven Press (pub.) 1981. Pp. 289-298.
</p>
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</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Honey1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Honey, N. K., Mueller, O. T., Little, L. E., Miller, A. L., Shows, T. B.
<strong>Mucolipidosis III is genetically heterogeneous.</strong>
Proc. Nat. Acad. Sci. 79: 7420-7424, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6961420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6961420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6961420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.79.23.7420" target="_blank">Full Text</a>]
</p>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Horsch1934" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horsch, K.
<strong>Ueber hereditaere degenerative Osteoarthropathie.</strong>
Arch. Orthop. Unfallchir. 34: 536-540, 1934.
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Kelly1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelly, T. E., Thomas, G. H., Taylor, H. A., Jr., McKusick, V. A., Sly, W. S., Glaser, J. H., Robinow, M., Luzzatti, L., Espiritu, C., Feingold, M., Bull, M. J., Ashenhurst, E. M., Ives, E. J.
<strong>Mucolipidosis III (pseudo-Hurler polydystrophy): clinical and laboratory studies in a series of 12 patients.</strong>
Johns Hopkins Med. J. 137: 156-175, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/810612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">810612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=810612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Langer1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Langer, L. O., Jr., Kronenberg, R. S., Gorlin, R. J.
<strong>A case simulating Hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria: a proposed classification of the various forms of the syndrome and similar diseases.</strong>
Am. J. Med. 40: 448-457, 1966.
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Little1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Little, L. E., Mueller, O. T., Honey, N. K., Shows, T. B., Miller, A. L.
<strong>Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.</strong>
J. Biol. Chem. 261: 733-738, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3001079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3001079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3001079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Maroteaux1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maroteaux, P., Lamy, M.
<strong>La pseudo-polydystrophie de Hurler.</strong>
Presse Med. 74: 2889-2892, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4958870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4958870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4958870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="McKusick1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumenee, A. E.
<strong>The genetic mucopolysaccharidoses.</strong>
Medicine 44: 445-483, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4221470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4221470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4221470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005792-196511000-00001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="McKusick1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972.
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Mueller1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mueller, O. T., Honey, N. K., Little, L. E., Miller, A. L., Shows, T. B.
<strong>Mucolipidosis II and III: the genetic relationships between two disorders of lysosomal enzyme biosynthesis.</strong>
J. Clin. Invest. 72: 1016-1023, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6309902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6309902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6309902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI111025" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Otomo2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Otomo, T., Muramatsu, T., Yorifuji, T., Okuyama, T., Nakabayashi, H., Fukao, T., Ohura, T., Yoshino, M., Tanaka, A., Okamoto, N., Inui, K., Ozono, K., Sakai, N.
<strong>Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.</strong>
J. Hum. Genet. 54: 145-151, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19197337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19197337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19197337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/jhg.2009.3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Paik2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Paik, K. H., Song, S. M., Ki, C. S., Yu, H.-W., Kim, J. S., Min, K. H., Chang, S. H., Yoo, E. J., Lee, I. J., Kwan, E. K., Han, S. J., Jin, D.-K.
<strong>Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.</strong>
Hum. Mutat. 26: 308-314, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20205" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Robinson2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Robinson, C., Baker, N., Noble, J., King, A., David, G., Sillence, D., Hofman, P., Cundy, T.
<strong>The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment.</strong>
J. Inherit. Metab. Dis. 25: 681-693, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12705498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12705498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12705498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1023/a:1022935115323" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Schinz1928" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schinz, H. R., Furtwaengler, A.
<strong>Zur Kenntnis einer hereditaeren Osteoarthropathie mit rezessivem Erbgang.</strong>
Dtsch. Z. Chir. 207: 398-416, 1928.
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Schmidt1938" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schmidt, R.
<strong>Eine bisher nicht beschriebene Form familiaerer Hornhautentartung in Verbindung mit Osteoarthropathie.</strong>
Klin. Monatsbl. Augenheilkd. 100: 616-620, 1938.
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Shinkai1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shinkai, H., Katagiri, K., Ishii, Y., Takayasu, S.
<strong>Connective tissue naevus with pseudo-Hurler polydystrophy.</strong>
Brit. J. Derm. 130: 528-533, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8186124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8186124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8186124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2133.1994.tb03392.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Steet2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., Kornfeld, S. Steinmann, B.
<strong>A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.</strong>
Am. J. Med. Genet. 132A: 369-375, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15633164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15633164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15633164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30498" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Steinbach1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steinbach, H. L., Preger, L., Williams, H. E., Cohen, P.
<strong>The Hurler syndrome without abnormal mucopolysacchariduria.</strong>
Radiology 90: 472-478, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4230591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4230591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4230591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1148/90.3.472" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Strecker1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strecker, G., Peers, M.-C., Michalski, J.-C., Hondi-Assah, T., Fournet, B., Spik, G., Montreuil, J., Farriaux, J.-P., Maroteaux, P., Durand, P.
<strong>Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis (mucolipidosis II and two new types of mucolipidosis).</strong>
Europ. J. Biochem. 75: 391-403, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/885137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">885137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=885137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1432-1033.1977.tb11540.x" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="29" class="mim-anchor"></a>
<a id="Thomas1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thomas, G. H., Tiller, G. E., Jr., Reynolds, L. W., Miller, C. S., Bace, J. W.
<strong>Sialidase deficiency in mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy). (Abstract)</strong>
5th International Congress of Human Genetics, Mexico City 1976.
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Tiede2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tiede, S., Muschol, N., Reutter, G., Cantz, M., Ullrich, K., Braulke, T.
<strong>Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.</strong>
Am. J. Med. Genet. 137A: 235-240, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16094673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16094673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16094673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30868" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Traboulsi1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Traboulsi, E. I., Maumenee, I. H.
<strong>Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Am. J. Ophthal. 102: 592-597, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3777077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3777077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3777077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9394(86)90529-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Tylki-Szymanska2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tylki-Szymanska, A., Czartoryska, B., Groener, J. E. M., Lugowska, A.
<strong>Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Am. J. Med. Genet. 108: 214-218, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.10224" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Varki1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Varki, A. P., Reitman, M. L., Kornfeld, S.
<strong>Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.</strong>
Proc. Nat. Acad. Sci. 78: 7773-7777, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6461005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6461005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6461005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.78.12.7773" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Ward1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ward, C., Singh, R., Slade, C., Fensom, A. H., Fahmy, A., Semrin, A., Sjovall, A., Talat, A., Hasilik, A., Klein, I., Benson, P. F.
<strong>A mild form of mucolipidosis type III in four Baluch siblings.</strong>
Clin. Genet. 44: 313-319, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8131303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8131303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8131303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03907.x" target="_blank">Full Text</a>]
</p>
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</ol>
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<a id="contributors" 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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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 5/25/2010
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<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">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 2/25/2008<br>Victor A. McKusick - updated : 10/16/2007<br>Ada Hamosh - updated : 6/28/2007<br>Victor A. McKusick - updated : 2/21/2006<br>Marla J. F. O'Neill - updated : 10/26/2005<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Marla J. F. O'Neill - updated : 3/1/2005<br>Ada Hamosh - updated : 10/3/2003<br>Deborah L. Stone - updated : 6/12/2002
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 10/01/2024
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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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carol : 05/30/2017<br>carol : 07/09/2016<br>terry : 3/14/2013<br>terry : 11/16/2010<br>wwang : 6/1/2010<br>ckniffin : 5/25/2010<br>ckniffin : 5/24/2010<br>terry : 4/30/2010<br>wwang : 3/13/2008<br>ckniffin : 2/25/2008<br>terry : 10/16/2007<br>alopez : 7/6/2007<br>terry : 6/28/2007<br>terry : 2/21/2006<br>wwang : 10/31/2005<br>terry : 10/26/2005<br>wwang : 10/7/2005<br>terry : 10/3/2005<br>carol : 3/30/2005<br>wwang : 3/7/2005<br>terry : 3/1/2005<br>joanna : 3/18/2004<br>cwells : 10/3/2003<br>carol : 5/30/2003<br>carol : 6/12/2002<br>carol : 8/17/1999<br>carol : 7/16/1998<br>mimman : 2/8/1996<br>davew : 8/25/1994<br>terry : 8/23/1994<br>mimadm : 4/18/1994<br>carol : 3/26/1994<br>warfield : 3/9/1994<br>carol : 4/28/1993
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<h3>
<span class="mim-font">
<strong>#</strong> 252600
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<h3>
<span class="mim-font">
MUCOLIPIDOSIS III ALPHA/BETA
</span>
</h3>
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<div>
<br />
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<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<div>
<h4>
<span class="mim-font">
ML III ALPHA/BETA<br />
MUCOLIPIDOSIS IIIA; ML IIIA<br />
MUCOLIPIDOSIS III<br />
ML III<br />
PSEUDO-HURLER POLYDYSTROPHY
</span>
</h4>
</div>
</div>
<div>
<br />
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<div>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
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<div>
<span class="h3 mim-font">
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
</span>
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<div>
<br />
</div>
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<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 65764006; &nbsp;
<strong>ORPHA:</strong> 423461, 577; &nbsp;
<strong>DO:</strong> 0080071; &nbsp;
</span>
</p>
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<div>
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<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
12q23.2
</span>
</td>
<td>
<span class="mim-font">
Mucolipidosis III alpha/beta
</span>
</td>
<td>
<span class="mim-font">
252600
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
GNPTAB
</span>
</td>
<td>
<span class="mim-font">
607840
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that mucolipidosis III alpha/beta, also known as pseudo-Hurler polydystrophy, is caused by homozygous or compound heterozygous mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase (GNPTAB; 607840).</p><p>Mucolipidosis II alpha/beta, or I-cell disease (252500), is also caused by mutations in the GNPTAB gene. A mucolipidosis III variant, ML III gamma (252605), is caused by mutation in the gene encoding the gamma subunit, GNPTG (607838).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Cathey et al. (2008) reported an updated nomenclature classification system for mucolipidosis II and III. ML II was renamed ML II alpha/beta; ML IIIA was renamed ML III alpha/beta; and ML IIIC was renamed ML III gamma. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mucolipidosis type III alpha/beta is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates. It is phenotypically less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by Paik et al., 2005). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Under the designation 'pseudo-polydystrophie de Hurler,' Maroteaux and Lamy (1966) described 4 cases with many of the features of the Hurler syndrome but a much slower clinical evolution and no mucopolysacchariduria. The bone marrow contained cells reminiscent of those in the Hurler syndrome but vacuoles were empty. Hypoplasia of the odontoid was noted in at least 1 case. The authors pointed out that this was probably the condition present in a patient listed among 'cases defying classification' in the report of McKusick et al. (1965). At least 1 brother-sister pair proved to have a form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome; 253200). </p><p>In Freiburg, Germany, Schinz and Furtwaengler (1928) described a sibship of 11, the offspring of a first-cousin marriage, in which a man then 29 years old and 3 of his sisters were identically affected by a disorder in which a striking feature was stiff joints. Flexion contracture in the fingers and toes was combined with reduced mobility in the ankles, wrists, knees, elbows, hips, shoulders and spine. The face was red with somewhat prominent forehead, broad nose and fleshy tongue. Intelligence was normal. Umbilical hernia was present in the male, whose height was 61.4 inches. X-rays showed thick skull, short posterior cranial fossa, and prominent external and internal occipital protuberance. A striking feature was extensive destruction or disturbance in the development of the carpal and tarsal bones. Horsch (1934) described a sister from the same sibship whose features, including those in the carpal and tarsal bones, were identical. The brother was restudied with description of cysts in the head of the humerus and the epiphysis of the radius and digits.</p><p>Langer et al. (1966) described a 61-year-old male who appeared to have the same disorder, including changes in the joints, carpal and tarsal bones, and cornea. The urine contained no excess of acid mucopolysaccharide but did have an excess of a glycoprotein. Not surprisingly, in view of the progressive stiffness of the hands and flexion contractures of fingers accompanied by other musculoskeletal changes, these patients are often thought to have a rheumatologic disorder (Brik et al., 1993). </p><p>The sibs reported by Steinbach et al. (1968) appear to have had this condition. </p><p>Freisinger et al. (1992) described a sister and brother with a very mild form of ML III, manifested only by isolated involvement of the hips and very mild abnormalities of the spine. Discrete opacifications of the cornea were found on slit-lamp examination. Serum levels of several lysosomal hydrolases were considerably increased. Mild disease was reported also by Ward et al. (1993) in 4 sibs from Baluchistan. Ranging from 7 to 12 years of age, they showed claw hands, joint stiffness, aortic valve involvement and radiologic dysostosis multiplex. The patients reported by Ward et al. (1993) were thought to fall into complementation group C. </p><p>Tylki-Szymanska et al. (2002) reported 3 patients with ML III who demonstrated the clinical variability of this condition and compared their biochemical results and clinical pictures with cases in the literature. One patient was a 13-year-old girl whose only symptoms were joint stiffness of the hands. The other 2 patients were a 5-year-old boy with a severe form of ML III and his 2-year-old sister who was less affected than he was at the same age. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a 39-year-old patient with pseudo-Hurler polydystrophy, Shinkai et al. (1994) observed a huge connective tissue nevus on his back. The lesional skin was composed of densely packed, coarse collagen fibers, which were immunohistochemically found to consist of type I, type III, and type VI collagens. The amount of elastic fibers was moderately reduced. The glucosaminoglycan content of lesional skin was similar to that in a normal control. Activities of several glycosidases were markedly decreased in cultured fibroblasts. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>It is possible that some cases of ML II (252500) and some cases of ML III represent homozygosity for different mutant genes at the same locus, namely, one determining a 'recognition marker' for multiple lysosomal enzymes. Sialidase deficiency similar to that in ML II was found in ML III by Thomas et al. (1976). Furthermore, Berman et al. (1974) found quantitatively and qualitatively abnormal glycoprotein components in the urine in 2 sibs with ML II. Both ML II and ML III show a marked deficiency of fibroblast UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. As a consequence, the common phosphomannosyl recognition marker of acid hydrolases is not generated, and these enzymes are not directed to the lysosomes. </p><p>Varki et al. (1981) developed a sensitive assay for the transferase that uses alpha-methyl mannoside as the acceptor. With the assay, a difference in enzyme activity was found to distinguish the 2 mucolipidoses. Enzyme activity was less than 0.4-2.0 pmol-mg per hr in ML II and 2.9-39.4 pmol-mg per hr in ML III. The difference in clinical severity may be explained thereby. Varki et al. (1981) found that the fibroblasts from 2 sibs with ML III (GM 3391 and GM 3392) had normal enzyme activity when measured with the assay using alpha-methyl mannose as acceptor but a low activity when assayed with endogenous acceptor. Mixing experiments showed the presence of endogenous acceptors and lack of inhibitors in the mutant fibroblasts. The authors concluded that the N-acetylglucosaminylphosphotransferase of the mutant fibroblasts has normal catalytic activity but is defective in its ability to recognize lysosomal enzymes as specific substrates for phosphorylation. </p><p>There is more than one cause of the pseudo-Hurler polydystrophy phenotype. Of 18 patients studied by Kelly et al. (1975), only 12 of them met the biochemical and ultrastructural criteria for ML III. One apparently typical case proved to have a form of the Maroteaux-Lamy syndrome. Gericke (1977) described the disorder in 2 sisters, aged 27 and 12 years. Other cases probably represent some disorder not cataloged here. </p><p>Gatti et al. (1985) concluded that 3 children with mucolipidosis III were homozygous also for the common variant alpha-L-fucosidase trait (136820), which is accompanied by low activity of the enzyme in plasma but no clinical abnormality as a rule. Thus, plasma alpha-L-fucosidase levels, which are usually elevated in ML III, were normal in these patients. </p><p>By cell complementation studies, Gravel et al. (1981) and Honey et al. (1982) demonstrated the existence of 3 complementation groups, designated A, B, and C. Group A appears to be the most common of the 3; many I-cell disease patients fall within this group (Mueller et al., 1983). Group C is less common and group B is probably very rare. Patients with cells showing normal phosphotransferase activity toward alpha-methylmannoside as an acceptor are within complementation group C, and patients with cells showing deficient activity toward both alpha-methylmannoside and lysosomal enzymes are in groups A and B. A possible explanation (Little et al., 1986) of these and other findings is that the phosphotransferase possesses 2 domains: a catalytic site (which is defective in group A patients) and a region important for recognition of lysosomal enzymes (which is defective in group C patients). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Robinson et al. (2002) reported 2 sibs with ML III that suggested the presence of a distinct metabolic bone disorder. Biochemical indices of bone turnover were increased, and transiliac bone biopsy demonstrated both trabecular osteopenia and marked subperiosteal bone resorption. Intravenous pamidronate treatment given monthly for a year was well tolerated and produced dramatic clinical effects, with reduction in bone pain and improvements in mobility, despite incomplete suppression of bone resorption as assessed by biochemical, radiographic, and histologic criteria. Robinson et al. (2002) suggested that bisphosphonate therapy may have an important role in the management of bone pain in ML III, as it does in the related lysosomal disorder of Gaucher disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of mucolipidosis III alpha/beta is autosomal recessive (Steet et al., 2005, Tiede et al., 2005, Paik et al., 2005). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Canfield et al. (1998) found that in 2 of 2 patients with mucolipidosis IIIA, the GlcNAc-phosphotransferase alpha/beta transcript (GNPTAB; 607840) was present but greatly reduced. In 4 of 4 patients with mucolipidosis II, the GNPTAB transcript was absent. In all ML II and ML III patients examined, the GNPTAG transcript (607838) was present at normal levels.</p><p>In a 47-year-old female who presented with dilated cardiomyopathy and mild neuropathy and was found to have mucolipidosis III, Steet et al. (2005) identified a homozygous splice site mutation in the GNPTAB gene (607840.0001). The patient, who exhibited none of the connective tissue anomalies characteristic of mucolipidosis III, was found to have a minimal amount of functional enzyme present in fibroblasts. The authors stated that this was the first example of the disease presenting in an adult patient. </p><p>In a 14-year-old boy who had mild clinical, radiographic, and biochemical findings of mucolipidosis III, including joint stiffness, dysostosis multiplex, and elevated serum levels of lysosomal enzymes but no mental retardation, corneal clouding, or valvular heart disease, Tiede et al. (2005) identified homozygosity for a missense mutation in the GNPTAB gene (607840.0002). The patient was also homozygous for an ala663-to-gly substitution in the GNPTAB gene that was deemed a polymorphism because it was found in 5% of normal alleles. Both parents were heterozygous for both mutations. </p><p>In 2 unrelated Korean girls with type IIIA mucolipidosis, Paik et al. (2005) identified compound heterozygosity for 3 different mutations in the GNPTAB gene (607840.0008-607840.0009). </p><p>Bargal et al. (2006) studied GNPTA mutations in 24 patients. They suggested that there is a clinical continuum between ML III and ML II, and that the classification of these diseases should be based on the age of onset, clinical symptoms, and severity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Otomo et al. (2009) identified 18 GNPTAB mutations, including 14 novel mutations, among 25 unrelated Japanese patients with ML II and 15 Japanese patients with ML III. The most common mutations were R1189X (607840.0004), which was found in 41% of alleles, and F374L (607840.0015), which was found in 10% of alleles. Homozygotes or compound heterozygotes of nonsense and frameshift mutations contributed to the more severe phenotype. In all, 73 GNPTAB mutations were detected in the 80 alleles. In a review of the reported clinical features, most ML II patients had impairment in standing alone, walking without support, and speaking single words compared to those with ML III. The frequencies of heart murmur, inguinal hernia, and hepatomegaly and/or splenomegaly did not differ between ML II and III patients. </p><p>Encarnacao et al. (2009) identified GNPTAB mutations in 9 mostly Portuguese patients with ML II. Eight of 9 patients had a nonsense or frameshift mutation, the most common being a 2-bp deletion (607840.0011) that was found in 45% of the mutant alleles; one patient was homozygous for a missense mutation. Three additional patients with a less severe phenotype consistent with ML III had missense mutations. Encarnacao et al. (2009) concluded that patients with ML II alpha/beta are almost all associated with the presence of nonsense or frameshift mutations in homozygosity, whereas the presence of at least 1 mild mutation in the GNPTAB gene is associated with ML III alpha/beta. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
McKusick (1972); Schmidt (1938); Strecker et al. (1977); Traboulsi
and Maumenee (1986)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bargal, R., Zeigler, M., Abu-Libdeh, B., Zuri, V., Mandel, H., Neriah, Z. B., Stewart, F., Elcioglu, N., Hindi, T., Le Merrer, M., Bach, G., Raas-Rothschild, A.
<strong>When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients.</strong>
Molec. Genet. Metab. 88: 359-363, 2006. Note: Erratum: Molec. Genet. Metab. 91: 299 only, 2007.
[PubMed: 16630736]
[Full Text: https://doi.org/10.1016/j.ymgme.2006.03.003]
</p>
</li>
<li>
<p class="mim-text-font">
Berman, E. R., Kohn, G., Yatziv, S., Stein, H.
<strong>Acid hydrolase deficiencies and abnormal glycoproteins in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Clin. Chim. Acta 52: 115-124, 1974.
[PubMed: 4208016]
[Full Text: https://doi.org/10.1016/0009-8981(74)90394-5]
</p>
</li>
<li>
<p class="mim-text-font">
Brik, R., Mandel, H., Aizin, A., Goldscher, D., Ziegler, M., Bialik, V., Berant, M.
<strong>Mucolipidosis III presenting as a rheumatological disorder.</strong>
J. Rheum. 20: 133-136, 1993.
[PubMed: 8441145]
</p>
</li>
<li>
<p class="mim-text-font">
Canfield, W. M., Bao, M., Pan, J., Brewer, A. D. K., Pan, H., Roe, B., Raas-Rothschild, A.
<strong>Mucolipidosis II and mucolipidosis IIIA are caused by mutations in the GlcNAc-phosphotransferase alpha/beta gene on chromosome 12p. (Abstract)</strong>
Am. J. Hum. Genet. 63: A15 only, 1998.
</p>
</li>
<li>
<p class="mim-text-font">
Cathey, S. S., Kudo, M., Tiede, S., Raas-Rothschild, A., Braulke, T., Beck, M., Taylor, H. A., Canfield, W. M., Leroy, J. G., Neufeld, E. F., McKusick, V. A.
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[Full Text: https://doi.org/10.1002/ajmg.a.32193]
</p>
</li>
<li>
<p class="mim-text-font">
Encarnacao, M., Lacerda, L., Costa, R., Prata, M. J., Coutinho, M. F., Ribeiro, H., Lopes, L., Pineda, M., Ignatius, J., Galvez, H., Mustonen, A., Vieira, P., Lima, M. R., Alves, S.
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Clin. Genet. 76: 76-84, 2009.
[PubMed: 19659762]
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01185.x]
</p>
</li>
<li>
<p class="mim-text-font">
Freisinger, P., Padovani, J. C., Maroteaux, P.
<strong>An atypical form of mucolipidosis III.</strong>
J. Med. Genet. 29: 834-836, 1992.
[PubMed: 1453439]
[Full Text: https://doi.org/10.1136/jmg.29.11.834]
</p>
</li>
<li>
<p class="mim-text-font">
Gatti, R., Lombardo, C., Cardo, P. P.
<strong>Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.</strong>
Hum. Genet. 70: 71-73, 1985.
[PubMed: 3997153]
[Full Text: https://doi.org/10.1007/BF00389462]
</p>
</li>
<li>
<p class="mim-text-font">
Gericke, G. J.
<strong>Mucolipidosis III: two patients displaying genetic pleiotropism.</strong>
S. Afr. Med. J. 51: 140-144, 1977.
[PubMed: 850847]
</p>
</li>
<li>
<p class="mim-text-font">
Gravel, R. A., Gravel, Y. L., Miller, A. L., Lowden, J. A.
<strong>Genetic complementation analysis of I-cell disease and pseudo-Hurler polydystrophy. In: Callahan, J. W.; Lowden, J. A.: Lysosomes and Lysosomal Storage Diseases.</strong>
New York: Raven Press (pub.) 1981. Pp. 289-298.
</p>
</li>
<li>
<p class="mim-text-font">
Honey, N. K., Mueller, O. T., Little, L. E., Miller, A. L., Shows, T. B.
<strong>Mucolipidosis III is genetically heterogeneous.</strong>
Proc. Nat. Acad. Sci. 79: 7420-7424, 1982.
[PubMed: 6961420]
[Full Text: https://doi.org/10.1073/pnas.79.23.7420]
</p>
</li>
<li>
<p class="mim-text-font">
Horsch, K.
<strong>Ueber hereditaere degenerative Osteoarthropathie.</strong>
Arch. Orthop. Unfallchir. 34: 536-540, 1934.
</p>
</li>
<li>
<p class="mim-text-font">
Kelly, T. E., Thomas, G. H., Taylor, H. A., Jr., McKusick, V. A., Sly, W. S., Glaser, J. H., Robinow, M., Luzzatti, L., Espiritu, C., Feingold, M., Bull, M. J., Ashenhurst, E. M., Ives, E. J.
<strong>Mucolipidosis III (pseudo-Hurler polydystrophy): clinical and laboratory studies in a series of 12 patients.</strong>
Johns Hopkins Med. J. 137: 156-175, 1975.
[PubMed: 810612]
</p>
</li>
<li>
<p class="mim-text-font">
Langer, L. O., Jr., Kronenberg, R. S., Gorlin, R. J.
<strong>A case simulating Hurler syndrome of unusual longevity, without abnormal mucopolysacchariduria: a proposed classification of the various forms of the syndrome and similar diseases.</strong>
Am. J. Med. 40: 448-457, 1966.
</p>
</li>
<li>
<p class="mim-text-font">
Little, L. E., Mueller, O. T., Honey, N. K., Shows, T. B., Miller, A. L.
<strong>Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.</strong>
J. Biol. Chem. 261: 733-738, 1986.
[PubMed: 3001079]
</p>
</li>
<li>
<p class="mim-text-font">
Maroteaux, P., Lamy, M.
<strong>La pseudo-polydystrophie de Hurler.</strong>
Presse Med. 74: 2889-2892, 1966.
[PubMed: 4958870]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A., Kaplan, D., Wise, D., Hanley, W. B., Suddarth, S. B., Sevick, M. E., Maumenee, A. E.
<strong>The genetic mucopolysaccharidoses.</strong>
Medicine 44: 445-483, 1965.
[PubMed: 4221470]
[Full Text: https://doi.org/10.1097/00005792-196511000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972.
</p>
</li>
<li>
<p class="mim-text-font">
Mueller, O. T., Honey, N. K., Little, L. E., Miller, A. L., Shows, T. B.
<strong>Mucolipidosis II and III: the genetic relationships between two disorders of lysosomal enzyme biosynthesis.</strong>
J. Clin. Invest. 72: 1016-1023, 1983.
[PubMed: 6309902]
[Full Text: https://doi.org/10.1172/JCI111025]
</p>
</li>
<li>
<p class="mim-text-font">
Otomo, T., Muramatsu, T., Yorifuji, T., Okuyama, T., Nakabayashi, H., Fukao, T., Ohura, T., Yoshino, M., Tanaka, A., Okamoto, N., Inui, K., Ozono, K., Sakai, N.
<strong>Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.</strong>
J. Hum. Genet. 54: 145-151, 2009.
[PubMed: 19197337]
[Full Text: https://doi.org/10.1038/jhg.2009.3]
</p>
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<p class="mim-text-font">
Paik, K. H., Song, S. M., Ki, C. S., Yu, H.-W., Kim, J. S., Min, K. H., Chang, S. H., Yoo, E. J., Lee, I. J., Kwan, E. K., Han, S. J., Jin, D.-K.
<strong>Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.</strong>
Hum. Mutat. 26: 308-314, 2005.
[PubMed: 16116615]
[Full Text: https://doi.org/10.1002/humu.20205]
</p>
</li>
<li>
<p class="mim-text-font">
Robinson, C., Baker, N., Noble, J., King, A., David, G., Sillence, D., Hofman, P., Cundy, T.
<strong>The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment.</strong>
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[Full Text: https://doi.org/10.1023/a:1022935115323]
</p>
</li>
<li>
<p class="mim-text-font">
Schinz, H. R., Furtwaengler, A.
<strong>Zur Kenntnis einer hereditaeren Osteoarthropathie mit rezessivem Erbgang.</strong>
Dtsch. Z. Chir. 207: 398-416, 1928.
</p>
</li>
<li>
<p class="mim-text-font">
Schmidt, R.
<strong>Eine bisher nicht beschriebene Form familiaerer Hornhautentartung in Verbindung mit Osteoarthropathie.</strong>
Klin. Monatsbl. Augenheilkd. 100: 616-620, 1938.
</p>
</li>
<li>
<p class="mim-text-font">
Shinkai, H., Katagiri, K., Ishii, Y., Takayasu, S.
<strong>Connective tissue naevus with pseudo-Hurler polydystrophy.</strong>
Brit. J. Derm. 130: 528-533, 1994.
[PubMed: 8186124]
[Full Text: https://doi.org/10.1111/j.1365-2133.1994.tb03392.x]
</p>
</li>
<li>
<p class="mim-text-font">
Steet, R. A., Hullin, R., Kudo, M., Martinelli, M., Bosshard, N. U., Schaffner, T., Kornfeld, S. Steinmann, B.
<strong>A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.</strong>
Am. J. Med. Genet. 132A: 369-375, 2005.
[PubMed: 15633164]
[Full Text: https://doi.org/10.1002/ajmg.a.30498]
</p>
</li>
<li>
<p class="mim-text-font">
Steinbach, H. L., Preger, L., Williams, H. E., Cohen, P.
<strong>The Hurler syndrome without abnormal mucopolysacchariduria.</strong>
Radiology 90: 472-478, 1968.
[PubMed: 4230591]
[Full Text: https://doi.org/10.1148/90.3.472]
</p>
</li>
<li>
<p class="mim-text-font">
Strecker, G., Peers, M.-C., Michalski, J.-C., Hondi-Assah, T., Fournet, B., Spik, G., Montreuil, J., Farriaux, J.-P., Maroteaux, P., Durand, P.
<strong>Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis (mucolipidosis II and two new types of mucolipidosis).</strong>
Europ. J. Biochem. 75: 391-403, 1977.
[PubMed: 885137]
[Full Text: https://doi.org/10.1111/j.1432-1033.1977.tb11540.x]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, G. H., Tiller, G. E., Jr., Reynolds, L. W., Miller, C. S., Bace, J. W.
<strong>Sialidase deficiency in mucolipidosis II (I-cell disease) and mucolipidosis III (pseudo-Hurler polydystrophy). (Abstract)</strong>
5th International Congress of Human Genetics, Mexico City 1976.
</p>
</li>
<li>
<p class="mim-text-font">
Tiede, S., Muschol, N., Reutter, G., Cantz, M., Ullrich, K., Braulke, T.
<strong>Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.</strong>
Am. J. Med. Genet. 137A: 235-240, 2005.
[PubMed: 16094673]
[Full Text: https://doi.org/10.1002/ajmg.a.30868]
</p>
</li>
<li>
<p class="mim-text-font">
Traboulsi, E. I., Maumenee, I. H.
<strong>Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Am. J. Ophthal. 102: 592-597, 1986.
[PubMed: 3777077]
[Full Text: https://doi.org/10.1016/0002-9394(86)90529-5]
</p>
</li>
<li>
<p class="mim-text-font">
Tylki-Szymanska, A., Czartoryska, B., Groener, J. E. M., Lugowska, A.
<strong>Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).</strong>
Am. J. Med. Genet. 108: 214-218, 2002.
[PubMed: 11891688]
[Full Text: https://doi.org/10.1002/ajmg.10224]
</p>
</li>
<li>
<p class="mim-text-font">
Varki, A. P., Reitman, M. L., Kornfeld, S.
<strong>Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.</strong>
Proc. Nat. Acad. Sci. 78: 7773-7777, 1981.
[PubMed: 6461005]
[Full Text: https://doi.org/10.1073/pnas.78.12.7773]
</p>
</li>
<li>
<p class="mim-text-font">
Ward, C., Singh, R., Slade, C., Fensom, A. H., Fahmy, A., Semrin, A., Sjovall, A., Talat, A., Hasilik, A., Klein, I., Benson, P. F.
<strong>A mild form of mucolipidosis type III in four Baluch siblings.</strong>
Clin. Genet. 44: 313-319, 1993.
[PubMed: 8131303]
[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03907.x]
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