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Entry
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- #252500 - MUCOLIPIDOSIS II ALPHA/BETA
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- OMIM
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<p>
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<span class="h4">#252500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/252500"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS256550"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</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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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<div style="display: table-row">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MUCOLIPIDOSIS II 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><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=27&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</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>
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<div><a href="https://www.diseaseinfosearch.org/x/3706" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/mucolipidosis-ii-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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=252500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=576" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c09c4af4-f0bf-44cd-a5d1-b262a8a50365/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080070" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/252500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:252500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 70199000<br />
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<strong>ORPHA:</strong> 576<br />
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<strong>DO:</strong> 0080070<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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252500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MUCOLIPIDOSIS II ALPHA/BETA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
|
|
MUCOLIPIDOSIS II; ML II<br />
|
|
ML II ALPHA/BETA<br />
|
|
I-CELL DISEASE; ICD
|
|
</span>
|
|
</h4>
|
|
</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 II alpha/beta
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/252500"> 252500 </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/252500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/252500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/252500" 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">
|
|
|
|
- Birth length less than normal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854922</a>]</span><br /> -
|
|
Deceleration of linear growth during first year <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854923</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Birth weight less than normal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854924</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Progressive failure to thrive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854925</a>]</span><br /> -
|
|
Hurler-like body configuration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854926</a>]</span><br /> -
|
|
Marked growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857641</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008850</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008850" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008850</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</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">
|
|
|
|
- High, narrow forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854930&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854930</a>]</span><br /> -
|
|
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Coarse facial features <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent episodes of otitis media <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000403</a>]</span><br /> -
|
|
Thick, firm earlobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854931</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">
|
|
|
|
- Thin eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4281771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4281771</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045074</a>]</span><br /> -
|
|
Puffy eyelids <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193967004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193967004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89091004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89091004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.84</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560024</a>, <a href="https://bioportal.bioontology.org/search?q=C0162285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100540</a>]</span><br /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
|
|
Clear to faintly hazy corneas <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854932</a>]</span><br /> -
|
|
Increased corneal diameter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1167712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1167712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span><br /> -
|
|
Corneal opacities on slit-lamp examination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677715</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Anteverted nostrils <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Progressive alveolar ridge hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009092</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009092</a>]</span><br /> -
|
|
Macroglossia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25273001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/270516002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">270516002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024421</a>, <a href="https://bioportal.bioontology.org/search?q=C0009677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Tongue,Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
|
|
Hypertrophic cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br /> -
|
|
Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Cardiac murmur <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88610006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88610006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421493004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421493004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414786004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414786004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R01.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R01.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018808</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030148</a>]</span><br /> -
|
|
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> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent bronchitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0741796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0741796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002837</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002837</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Recurrent pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699014000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699014000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0694550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0694550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006532" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006532</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<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">
|
|
|
|
- Scapular hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000882</a>]</span><br /> -
|
|
Broad, spatulate-appearing ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854921</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Widely spaced nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423230008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423230008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diastasis recti <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62629000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62629000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span><br /> -
|
|
Abdominal protuberance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span><br /> -
|
|
Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Minimal splenomegaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854929&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854929</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Moderate joint limitation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854935</a>]</span><br /> -
|
|
Osteopenia in early infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854936</a>]</span><br /> -
|
|
Pathologic fractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22640007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22640007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268029009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M84.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M84.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V13.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V13.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</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">
|
|
|
|
- Thickened cranium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br /> -
|
|
Normal enlarged sella turcica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854938&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854938</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">
|
|
|
|
- Dorsolumbar kyphosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859335</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003423</a>]</span><br /> -
|
|
Atlantoaxial dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263042007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263042007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263905&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263905</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003414</a>]</span><br /> -
|
|
Ovoid vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003300</a>]</span><br /> -
|
|
Narrowness of interpediculate distances in lower thoracic regions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854940&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854940</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008470</a>]</span><br /> -
|
|
Hypoplastic odontoid process <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003311</a>]</span><br /> -
|
|
Beaking of vertebral bodies T12-L3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854941</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004562</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004562</a>]</span><br /> -
|
|
Lumbar gibbus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854942&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854942</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">
|
|
|
|
- Flared iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span><br /> -
|
|
Horizontal acetabular roofs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003180</a>]</span><br /> -
|
|
Supra-acetabular constriction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854944</a>]</span><br /> -
|
|
Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br /> -
|
|
Irregular contours of pubis and ischium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854945&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854945</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">
|
|
|
|
- Cortical bone erosion (especially proximal femora) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854946</a>]</span><br /> -
|
|
Long bone shortening <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> <span class="mim-feature-ids hidden">[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 /> -
|
|
Widened metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003016</a>]</span><br /> -
|
|
Varus deformity of humeral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854948&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854948</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006362" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006362</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006362" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006362</a>]</span><br /> -
|
|
Tilted distal ends of radius and ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854949&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854949</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">
|
|
|
|
- Broadening of wrist <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854950</a>]</span><br /> -
|
|
Brachyphalangia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38998004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38998004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265556</a>]</span><br /> -
|
|
Hypoplasia of carpal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863749</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001498</a>]</span><br /> -
|
|
Conical bullet-shaped distal ends of phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009769</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009769</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</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">
|
|
|
|
- Thick, relatively tight skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854956</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246703001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246703001</a>]</span><br /> -
|
|
Cavernous hemangioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416824008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416824008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56975005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56975005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33377007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33377007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D18.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D18.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001048</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
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<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">
|
|
|
|
- Severe psychomotor retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854919&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854919</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011344</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011344</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span><br /> -
|
|
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Myelopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127035006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127035006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48522003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48522003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/336.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">336.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005956</a>, <a href="https://bioportal.bioontology.org/search?q=C0037928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005561</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002196</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002196</a>]</span><br /> -
|
|
Neonatal hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240080003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240080003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205294008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33010005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33010005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P94.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P94.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343239</a>, <a href="https://bioportal.bioontology.org/search?q=C0270971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270971</a>, <a href="https://bioportal.bioontology.org/search?q=C2267233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2267233</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> VOICE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hoarse voice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50219008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50219008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001609</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Normal to mildly increased mucopolysacchariduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854953</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 arylsulfatase A (10-20x) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854954&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854954</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 /> -
|
|
Inclusion bodies (membrane-bound vacuoles) in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854955&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854955</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Death in childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003819</a>]</span><br /> -
|
|
Death often secondary to pneumonia or congestive heart failure<br /> -
|
|
Carrier rate of 1 in 39 in the Saguenay-Lac-Saint-Jean region of Quebec<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, <a href="/entry/607840#0003">607840.0003</a>)<br />
|
|
|
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</span>
|
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</div>
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Mucolipidosis
|
|
- <a href="/phenotypicSeries/PS256550">PS256550</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<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>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<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/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>
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<p>A number sign (#) is used with this entry because of evidence that mucolipidosis II alpha/beta, also known as I-cell disease, is caused by homozygous or compound heterozygous mutation in the GNPTAB gene (<a href="/entry/607840">607840</a>).</p><p>Mucolipidosis III alpha/beta (<a href="/entry/252600">252600</a>), or pseudo-Hurler polydystrophy, is also caused by mutation in the GNPTAB gene.</p><p>A mucolipidosis variant called mucolipidosis III gamma (<a href="/entry/252605">252605</a>) is caused by mutations in the GNPTG gene (<a href="/entry/607838">607838</a>).</p>
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<p><a href="#7" 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. <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://doi.org/10.1002/ajmg.a.32193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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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<p>Mucolipidosis type II 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 more severe than the allelic disorder mucolipidosis type III alpha/beta (summary by <a href="#40" 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. <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://doi.org/10.1002/humu.20205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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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<p>Mucolipidosis II is a Hurler (<a href="/entry/607014">607014</a>)-like condition with severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. Retarded psychomotor development, clear corneas, and restricted joint mobility are other features. <a href="#25" class="mim-tip-reference" title="Leroy, J. G., Demars, R. I., Opitz, J. M. <strong>I-cell disease.</strong> Birth Defects Orig. Art. Ser. V(4): 174-185, 1969."None>Leroy et al. (1969)</a> first described this condition and named it I-cell disease (for 'inclusion cell disease'). Abnormal inclusions were found in the fibroblasts of some heterozygotes. Both sexes were affected in early reports; sibs were affected in 2 families and the parents of 1 of the patients of <a href="#50" class="mim-tip-reference" title="Spranger, J. W., Wiedemann, H. R. <strong>The genetic mucolipidoses: diagnosis and differential diagnosis.</strong> Humangenetik 9: 113-139, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4246487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4246487</a>] [<a href="https://doi.org/10.1007/BF00278928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4246487">Spranger and Wiedemann (1970)</a> were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4246487" 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="#29" class="mim-tip-reference" title="Michels, V. V., Dutton, R. V., Caskey, C. T. <strong>Mucolipidosis II: unusual presentation with a congenital angulated fracture.</strong> Clin. Genet. 21: 225-227, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7105472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7105472</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb00754.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7105472">Michels et al. (1982)</a> pointed out that ML II should be added to the list of disorders that can show intrauterine fractures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7105472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Beck, M., Barone, R., Hoffmann, R., Kratzer, W., Rakowsky, T., Nigro, F., Fiumara, A. <strong>Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).</strong> Clin. Genet. 47: 191-199, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628121</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03958.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628121">Beck et al. (1995)</a> analyzed the inter- and intrafamilial variability in I-cell disease based on 9 patients. Although they all had disproportionate dwarfism, coarse facial features, and mental retardation, there was remarkable variability in age of onset, organ manifestation, and radiologic findings. Some had unusual clinical symptoms, including pericardial effusion and profound brain atrophy. Differences were seen even in 2 affected sibs: a brother survived to the age of 8 years, dying of bronchial pneumonia, whereas a sister died from cardiac failure at the age of 2 months, and another sister died at 29 days following a similar course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628121" 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="#15" 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. <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://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19659762">Encarnacao et al. (2009)</a> reported 9 unrelated patients with ML II alpha/beta. All had onset before 1 year of age, except 2 who had onset at 4 and 22 months, respectively. Clinical features included psychomotor retardation, coarse dysmorphic facial features, gingival hyperplasia, hip dysplasia, growth retardation, and restricted joint movement. Biochemical studies showed increased activity of several lysosomal enzymes in the serum and decreased activity of these enzymes in fibroblasts. <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>
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<p><a href="#27" class="mim-tip-reference" title="Leroy, J. G., Ho, M. W., MacBrinn, M. C., Zielke, K., Jacob, J., O'Brien, J. S. <strong>I-cell disease: biochemical studies.</strong> Pediat. Res. 6: 752-757, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4346288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4346288</a>] [<a href="https://doi.org/10.1203/00006450-197210000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4346288">Leroy et al. (1972)</a> found no accumulation of lipid in brain and viscera and no accumulation of mucopolysaccharide in these tissues or fibroblasts. For this reason they questioned the appropriation of the designation 'mucolipidosis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4346288" 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>Deficiency of sialidase (neuraminidase) has been reported in cultured fibroblasts (<a href="#55" class="mim-tip-reference" title="Thomas, G. H., Tiller, G. E., Jr., Reynolds, L. W., Miller, C. S., Bace, J. W. <strong>Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.</strong> Biochem. Biophys. Res. Commun. 71: 188-195, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/61029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">61029</a>] [<a href="https://doi.org/10.1016/0006-291x(76)90267-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="61029">Thomas et al., 1976</a>) and in leukocytes (<a href="#51" class="mim-tip-reference" title="Strecker, G., Hondi-Assah, T., Fournet, B., Spik, G., Montreuil, J., Maroteaux, P., Durand, P., Farriaux, J.-P. <strong>Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: 'I-cell disease' and two new types of mucolipidosis.</strong> Biochim. Biophys. Acta 444: 349-358, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/971412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">971412</a>] [<a href="https://doi.org/10.1016/0304-4165(76)90378-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="971412">Strecker et al., 1976</a>). Furthermore, a sialyl-hexasaccharide is excreted in the urine in considerable amounts (<a href="#51" class="mim-tip-reference" title="Strecker, G., Hondi-Assah, T., Fournet, B., Spik, G., Montreuil, J., Maroteaux, P., Durand, P., Farriaux, J.-P. <strong>Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: 'I-cell disease' and two new types of mucolipidosis.</strong> Biochim. Biophys. Acta 444: 349-358, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/971412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">971412</a>] [<a href="https://doi.org/10.1016/0304-4165(76)90378-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="971412">Strecker et al., 1976</a>). Sialic acid levels were increased 3- to 4-fold in cultured ML II cells, but were normal in 9 other lysosomal diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=971412+61029" 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="#61" class="mim-tip-reference" title="Vladutiu, G. D., Rattazzi, M. C. <strong>Abnormal lysosomal hydrolase excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).</strong> Biochem. Biophys. Res. Commun. 67: 956-964, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1201084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1201084</a>] [<a href="https://doi.org/10.1016/0006-291x(75)90768-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1201084">Vladutiu and Rattazzi (1975)</a> found electrophoretic abnormality of lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease and alteration of this mobility by treatment with neuraminidase. Presumably the higher electronegative charge of I-cell hydrolases at pH 6 resulted from sialic acid residues not present on enzyme excreted by normal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1201084" 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>Complementation studies suggested that ML II and ML III are determined by mutations at separate loci (<a href="#66" class="mim-tip-reference" title="Wright, C. E., Miller, A. L., Shows, T. B. <strong>Complementation analysis of the mucolipidoses demonstrates genetic heterogeneity. (Abstract)</strong> Am. J. Hum. Genet. 31: 66A, 1979."None>Wright et al., 1979</a>). However, by cell fusion studies, <a href="#21" class="mim-tip-reference" title="Honey, N. K., Miller, A. L., Shows, T. B. <strong>The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.</strong> Am. J. Med. Genet. 9: 239-253, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7282783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7282783</a>] [<a href="https://doi.org/10.1002/ajmg.1320090310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7282783">Honey et al. (1981)</a> and <a href="#45" class="mim-tip-reference" title="Shows, T. B., Mueller, O. T., Honey, N. K., Wright, C. E., Miller, A. L. <strong>Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.</strong> Am. J. Med. Genet. 12: 343-353, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6287841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6287841</a>] [<a href="https://doi.org/10.1002/ajmg.1320120312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6287841">Shows et al. (1982)</a> demonstrated 2 ML II complementation groups and 3 ML III complementation groups. No complementation was observed between one of the ML II types and one of the ML III types. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7282783+6287841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Honey, N. K., Miller, A. L., Shows, T. B. <strong>The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.</strong> Am. J. Med. Genet. 9: 239-253, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7282783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7282783</a>] [<a href="https://doi.org/10.1002/ajmg.1320090310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7282783">Honey et al. (1981)</a> found differing electrophoretic patterns of lysosomal enzymes in cases with the ML II phenotype, suggesting heterogeneity (at least 2 classes). In all cases of both ML II and ML III, deficiency has been found in only one enzyme, the GlcNAc-1-P transferase that attaches GlcNAc-1-P to mannose residues of multiple lysosomal enzymes. Defects in the diesterase that exposes the mannose-6-phosphate marker have not been identified (<a href="#49" class="mim-tip-reference" title="Sly, W. S. <strong>Personal Communication.</strong> St. Louis, Mo. 10/30/1981."None>Sly, 1981</a>). Different defects in the transferase have been found, e.g., an abnormality of the enzyme such that it does not recognize mannose as a substrate. The receptor for lysosomal enzyme necessary for transfer of enzymes to lysosomes is present in all tissues. No receptor-negative mutants had yet been recognized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7282783" 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="#54" class="mim-tip-reference" title="Thomas, G. H., Miller, C. S., Toomey, K. E., Reynolds, L. W., Reitman, M. L., Varki, A., Vannier, A., Rosenbaum, K. N., Bias, W. B., Schofield, B. H. <strong>Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.</strong> Am. J. Hum. Genet. 34: 611-622, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6125101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6125101</a>]" pmid="6125101">Thomas et al. (1982)</a> reported studies of a patient with an atypical form of ML II and presented evidence that the patient was mosaic for 2 populations of cells, one with the I-cell mutation and one normal. They found no evidence of twin chimerism from genetic marker studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6125101" 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="#36" class="mim-tip-reference" title="Okada, S., Kato, T., Oshima, T., Yutaka, T., Yabuuchi, H. <strong>Heterogeneity in mucolipidosis II (I-cell disease).</strong> Clin. Genet. 23: 155-159, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6839528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6839528</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01865.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6839528">Okada et al. (1983)</a> showed heterogeneity of ICD lines in the ability of sucrose loading in vitro to induce hydrolases. ML II illustrates nicely the principle that demonstration of an intermediate level of enzyme activity in heterozygotes is a valuable indicator that that enzyme is the site of the primary defect. Although the activity of lysosomal enzymes is low in cells of affected persons, normal levels are found in heterozygotes. (An exception to this statement is the report by <a href="#43" class="mim-tip-reference" title="Potier, M., Melancon, S. B., Dallaire, L., Chicoine, R., Mameli, L., Belisle, M. <strong>Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease).</strong> Am. J. Med. Genet. 4: 191-200, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/517575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">517575</a>] [<a href="https://doi.org/10.1002/ajmg.1320040211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="517575">Potier et al. (1979)</a> who found intermediate levels of neuraminidase activity in obligatory heterozygotes.) On the other hand, the activity of GlcNAc-1-P transferase is intermediate in ML II heterozygotes (<a href="#46" class="mim-tip-reference" title="Shows, T. B. <strong>Personal Communication.</strong> Buffalo, N. Y. 1983."None>Shows, 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6839528+517575" 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="#4" class="mim-tip-reference" title="Ben-Yoseph, Y., Potier, M., Mitchell, D. A., Pack, B. A., Melancon, S. B., Nadler, H. L. <strong>Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.</strong> Biochem. J. 248: 697-701, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2829837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2829837</a>] [<a href="https://doi.org/10.1042/bj2480697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2829837">Ben-Yoseph et al. (1987)</a> found abnormally small N-acetylglucosamine 1-phosphotransferase enzyme in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised 1 complementation group characterized by deficiency toward both artificial and natural acceptor substrates. The size of the enzyme varied from 151-174 kD, compared with the normal of 225-278 kD. The mutant enzyme from cell lines of patients with variant forms of pseudo-Hurler polydystrophy, which comprised another complementation group characterized by normal activity toward monosaccharide and oligosaccharide substrates, was significantly larger than the normal enzyme, ranging from 321-356 kD in 2 families and from 528-547 kD in a third family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2829837" 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 review of genetic defects of intracellular membrane transport, <a href="#38" class="mim-tip-reference" title="Olkkonen, V. M., Ikonen, E. <strong>Genetic defects of intracellular-membrane transport.</strong> New Eng. J. Med. 343: 1095-1104, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11027745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11027745</a>] [<a href="https://doi.org/10.1056/NEJM200010123431507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11027745">Olkkonen and Ikonen (2000)</a> referred to ML II as the prototypic genetic disorder affecting the machinery of protein sorting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11027745" 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="#63" class="mim-tip-reference" title="Wiesmann, U. N., Rossi, E. E., Herschkowitz, N. N. <strong>Treatment of metachromatic leukodystrophy in fibroblasts by enzyme replacement. (Letter)</strong> New Eng. J. Med. 284: 672-673, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5545612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5545612</a>] [<a href="https://doi.org/10.1056/NEJM197103252841214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5545612">Wiesmann et al. (1971)</a> concluded that the defect leads to leakage of lysosomal enzymes from the cell. Cultured fibroblasts showed low levels of 4 lysosomal enzymes whereas the level of these enzymes in the culture medium was high. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5545612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Hickman, S., Neufeld, E. F. <strong>A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.</strong> Biochem. Biophys. Res. Commun. 49: 992-999, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4345092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4345092</a>] [<a href="https://doi.org/10.1016/0006-291x(72)90310-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4345092">Hickman and Neufeld (1972)</a> presented evidence for their hypothesis that the mutation in I-cell disease is in an enzyme which modifies several lysosomal enzymes to guarantee their recognition by cells and re-entry into cells from the intercellular space into which the enzymes have been secreted by the synthesizing cells. There was precedence for the idea that carbohydrate side chains of glycoproteins control entry of the proteins into liver cells (<a href="#31" class="mim-tip-reference" title="Morell, A. G., Gregoriadis, G., Scheinberg, I. H., Hickman, J., Ashwell, G. <strong>The role of sialic acid in determining the survival of glycoproteins in the circulation.</strong> J. Biol. Chem. 246: 1461-1467, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5545089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5545089</a>]" pmid="5545089">Morell et al., 1971</a>). This hypothesis would explain why multiple enzymes are high in the medium in which I-cells are grown and low in the cells themselves. It was an alternative to the 'leaky lysosome' hypothesis of <a href="#63" class="mim-tip-reference" title="Wiesmann, U. N., Rossi, E. E., Herschkowitz, N. N. <strong>Treatment of metachromatic leukodystrophy in fibroblasts by enzyme replacement. (Letter)</strong> New Eng. J. Med. 284: 672-673, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5545612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5545612</a>] [<a href="https://doi.org/10.1056/NEJM197103252841214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5545612">Wiesmann et al. (1971)</a>. The evidence presented by <a href="#20" class="mim-tip-reference" title="Hickman, S., Neufeld, E. F. <strong>A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.</strong> Biochem. Biophys. Res. Commun. 49: 992-999, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4345092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4345092</a>] [<a href="https://doi.org/10.1016/0006-291x(72)90310-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4345092">Hickman and Neufeld (1972)</a> was of several types. For example, they found that alpha-1-iduronidase produced by I-cells did not 'correct' Hurler cells whereas semipurified iduronidase from urine and medium in which normal cells have grown does correct the metabolic defect of Hurler cells. The Neufeld hypothesis was an alternative to the Novikoff hypothesis which suggested that the acid hydrolases are packaged in the lysosomes directly after synthesis in the Golgi apparatus. This may indeed be true for some lysosomal enzymes because acid phosphatase and beta-glucosidase have normal activities in I cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4345092+5545089+5545612" 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="#47" class="mim-tip-reference" title="Sly, W. S., Achord, D. T., Kaplan, A. <strong>Correction of enzyme deficient fibroblasts: evidence for a new type of pinocytosis receptor which mediates uptake of lysosomal enzymes. (Abstract)</strong> Clin. Res. 25: 471A, 1977."None>Sly et al. (1977)</a> presented evidence that lysosomal enzymes that are capable of being taken up by cells through pinocytosis (high uptake form of lysosomal enzymes) are phosphoglycoproteins. This is consistent with the destruction of uptake by treatment of the enzyme with periodate or with alkaline phosphatase. More specifically a phosphomonoester of mannose appears to be the recognition marker for many lysosomal enzymes.</p><p><a href="#57" class="mim-tip-reference" title="Varki, A., Reitman, M. L., Kornfeld, S. <strong>The enzymatic defect in I-cell disease (ML II) and pseudo-Hurler polydystrophy (ML III). (Abstract)</strong> Clin. Res. 29: 514A, 1981."None>Varki et al. (1981)</a> showed that the basic defect in mucolipidoses II and III is in 1 of the 2 enzymes involved in generation of the phosphomannosyl residues on acid hydrolases that serve as specific recognition markers for targeting these enzymes to lysosomes. The first of these enzymes, N-acetylglucosamine-1-phosphotransferase (GNPTA; <a href="/entry/607840">607840</a>), was deficient in 5 cases of I-cell disease and 10 cases of pseudo-Hurler polydystrophy. No enzyme activity was found in the first group; residual enzyme activity in the second group provides an explanation for the milder phenotype. These may be allelic disorders. Presumably a defect in the second enzyme involved in generating the phosphomannosyl residues, acetylglucosaminyl phosphodiesterase, could also lead to mucolipidosis. In the cases studied, the second enzyme was normal or elevated.</p><p>By the study of cell lines deficient in the mannose 6-phosphate receptor, <a href="#16" class="mim-tip-reference" title="Gabel, C. A., Goldberg, D. E., Kornfeld, S. <strong>Identification and characterization of cells deficient in the mannose 6-phosphate receptor: evidence for an alternate pathway for lysosomal enzyme targeting.</strong> Proc. Nat. Acad. Sci. 80: 775-779, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6298775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6298775</a>] [<a href="https://doi.org/10.1073/pnas.80.3.775" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6298775">Gabel et al. (1983)</a> demonstrated that an alternative mechanism for delivery of acid hydrolases to lysosomal organelles exists in some cells. A succinct statement of the usual mechanism was given, and the review by <a href="#48" class="mim-tip-reference" title="Sly, W. S., Fischer, H. D. <strong>The phosphomannosyl recognition systems for intracellular and intercellular transport of lysosomal enzymes.</strong> J. Cell. Biochem. 18: 67-85, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6279685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6279685</a>] [<a href="https://doi.org/10.1002/jcb.1982.240180107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6279685">Sly and Fischer (1982)</a> was referenced. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6298775+6279685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Kornfeld, S. <strong>Trafficking of lysosomal enzymes in normal and disease states.</strong> J. Clin. Invest. 77: 1-6, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003148</a>] [<a href="https://doi.org/10.1172/JCI112262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3003148">Kornfeld (1986)</a> reviewed the 'trafficking of lysosomal enzymes in normal and disease states.' He gave a table of 6 types of lysosomal storage diseases, with examples: those in which no immunologically detectable enzyme is produced (includes conditions with grossly abnormal structural genes); those in which a catalytically inactive polypeptide is synthesized (includes mutations affecting stability or transport of the polypeptide); those in which a catalytically active enzyme is synthesized but not segregated into lysosomes; those in which a catalytically active enzyme is synthesized but is unstable in prelysosomal or lysosomal compartments; those in which an activator protein of a lipid-degrading hydrolase is missing, e.g., <a href="/entry/249900">249900</a>; and those in which lysosomal enzyme deficiencies result from intoxication by an inhibitor of a lysosomal enzyme. <a href="#24" class="mim-tip-reference" title="Kornfeld, S. <strong>Trafficking of lysosomal enzymes in normal and disease states.</strong> J. Clin. Invest. 77: 1-6, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003148</a>] [<a href="https://doi.org/10.1172/JCI112262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3003148">Kornfeld (1986)</a> provided a graphic diagram of the pathway of lysosomal enzyme targeting to lysosomes. See <a href="/entry/154570">154570</a> for a further illustration of the elucidation of lysosomal enzyme trafficking by study of another 'experiment of nature.' <a href="#19" class="mim-tip-reference" title="Herzog, V., Neumuller, W., Holzmann, B. <strong>Thyroglobulin, the major and obligatory exportable protein of thyroid follicle cells, carries the lysosomal recognition marker mannose-6-phosphate.</strong> EMBO J. 6: 555-560, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3582367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3582367</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1987.tb04790.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3582367">Herzog et al. (1987)</a> found that thyroglobulin (<a href="/entry/188450">188450</a>) carries the lysosomal recognition marker mannose-6-phosphate. This finding is consistent with the fact that the ultimate destination of TG is the lysosomal compartment, where thyroid hormones are released by proteolytic degradation. However, the thyroglobulin is first exported to the thyroid follicle and then recaptured for the release of thyroid hormone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3582367+3003148" 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="#60" class="mim-tip-reference" title="Vidgoff, J., Rowe, S., Stafford, R., Buist, N. R. M., Lovrien, E. W. <strong>Localization of the gene for I-cell disease (mucolipidosis II). (Abstract)</strong> Am. J. Hum. Genet. 34: 64A, 1982."None>Vidgoff et al. (1982)</a> studied a population isolate with several couples at risk for ICD and concluded that carriers can be identified by serum levels of beta-D-hexosaminidase B (<a href="#59" class="mim-tip-reference" title="Vidgoff, J., Buist, N. R. <strong>Serum hexosaminidase activity in I-cell disease carriers.</strong> Hum. Genet. 36: 307-316, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852874</a>] [<a href="https://doi.org/10.1007/BF00446281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852874">Vidgoff and Buist, 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Ben-Yoseph, Y., Mitchell, D. A., Nadler, H. L. <strong>First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay.</strong> Clin. Genet. 33: 38-43, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2830069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2830069</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb04262.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2830069">Ben-Yoseph et al. (1988)</a> demonstrated the usefulness of specific enzyme diagnosis on the basis of chorion villus samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2830069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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<a href="#44" class="mim-tip-reference" title="Saul, R. A., Proud, V., Taylor, H. A., Leroy, J. G., Spranger, J. <strong>Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.</strong> Am. J. Med. Genet. 135A: 328-332, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15887289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15887289</a>] [<a href="https://doi.org/10.1002/ajmg.a.30716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15887289">Saul et al. (2005)</a> reported a female sib of a male fetus that had previously been diagnosed with Pacman dysplasia (<a href="/entry/167220">167220</a>) by <a href="#30" class="mim-tip-reference" title="Miller, S. F., Proud, V. K., Werner, A. L., Field, F. M., Wilcox, W. F., Lachman, R. S., Rimoin, D. L. <strong>Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.</strong> Pediat. Radiol. 33: 256-260, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12709756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12709756</a>] [<a href="https://doi.org/10.1007/s00247-002-0859-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12709756">Miller et al. (2003)</a>. She had a clinical course and biochemical, cytologic, and radiographic features consistent with the diagnosis of ML II. <a href="#44" class="mim-tip-reference" title="Saul, R. A., Proud, V., Taylor, H. A., Leroy, J. G., Spranger, J. <strong>Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.</strong> Am. J. Med. Genet. 135A: 328-332, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15887289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15887289</a>] [<a href="https://doi.org/10.1002/ajmg.a.30716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15887289">Saul et al. (2005)</a> suggested that what is called Pacman dysplasia may represent a prenatal manifestation of ML II. <a href="#64" class="mim-tip-reference" title="Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Wenger, D. A. <strong>Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].</strong> Am. J. Med. Genet. 135A: 333 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15887286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15887286</a>] [<a href="https://doi.org/10.1002/ajmg.a.30717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15887286">Wilcox et al. (2005)</a> argued that Pacman dysplasia is distinct from ML II, but that radiographic and morphologic criteria cannot be used to distinguish between them. In order to make a definitive diagnosis, pathologic material must be examined for lysosomal storage or enzyme assays must be performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12709756+15887289+15887286" 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="#60" class="mim-tip-reference" title="Vidgoff, J., Rowe, S., Stafford, R., Buist, N. R. M., Lovrien, E. W. <strong>Localization of the gene for I-cell disease (mucolipidosis II). (Abstract)</strong> Am. J. Hum. Genet. 34: 64A, 1982."None>Vidgoff et al. (1982)</a> found possible linkage of ML II to MN (<a href="/entry/111300">111300</a>) with a lod score of 1.3. <a href="#33" class="mim-tip-reference" title="Mueller, O. T., Wasmuth, J. J., Murray, J. C., Lozzio, C. B., Lovrien, E. W., Shows, T. B. <strong>Chromosomal assignment of N-acetylglucosaminylphosphotransferase, the lysosomal hydrolase targeting enzyme deficient in mucolipidosis II and III. (Abstract)</strong> Cytogenet. Cell Genet. 46: 664, 1987."None>Mueller et al. (1987)</a> determined the chromosome assignment of the structural gene altered in the common forms of ML II and ML III, designated GNPTA, by linkage analysis, somatic cell hybrids, and gene dosage. Linkage data with ML II families indicated that the ML II locus is located between GC (<a href="/entry/139200">139200</a>) and MNS (<a href="/entry/111300">111300</a>). The combined data indicated that GNPTA maps to 4q21-q23.</p><p><a href="#6" class="mim-tip-reference" title="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."None>Canfield et al. (1998)</a> stated that the GNPTA gene maps to chromosome 12p.</p>
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<p><a href="#6" class="mim-tip-reference" title="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."None>Canfield et al. (1998)</a> found that in 4 of 4 patients with mucolipidosis II, the GNPTA transcript was absent. In 2 of 2 patients with mucolipidosis IIIA, the GNPTA transcript was present but greatly reduced. In all ML II and ML III patients examined, GNPTAG (<a href="/entry/607838">607838</a>) was present at normal levels.</p><p>In 3 unrelated Korean girls with type II mucolipidosis characterized by a decelerating growth pattern from infancy and cardiac abnormalities, <a href="#40" 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. <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://doi.org/10.1002/humu.20205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116615">Paik et al. (2005)</a> identified compound heterozygosity for 5 different mutations in the GNPTAB gene (<a href="/entry/607840#0003">607840.0003</a>-<a href="/entry/607840#0007">607840.0007</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>In 6 patients with clinically and biochemically diagnosed mucolipidosis II, <a href="#56" class="mim-tip-reference" title="Tiede, S., Storch, S., Lubke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., Braulke, T. <strong>Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.</strong> Nature Med. 11: 1109-1112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16200072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16200072</a>] [<a href="https://doi.org/10.1038/nm1305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16200072">Tiede et al. (2005)</a> identified homozygosity or compound heterozygosity for 7 mutations in the GNPTAB gene, all resulting in premature translational termination (e.g., <a href="/entry/607840#0010">607840.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16200072" 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. <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://doi.org/10.1016/j.ymgme.2006.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16630736">Bargal et al. (2006)</a> studied GNPTAB 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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<p><a href="#39" 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. <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://doi.org/10.1038/jhg.2009.3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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="#15" 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. <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://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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="#15" 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. <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://doi.org/10.1111/j.1399-0004.2009.01185.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" 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>
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<p>In the French-Canadian population of the Saguenay-Lac-Saint-Jean region of Quebec province, <a href="#13" class="mim-tip-reference" title="De Braekeleer, M. <strong>Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).</strong> Hum. Hered. 41: 141-146, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937486</a>] [<a href="https://doi.org/10.1159/000153992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937486">De Braekeleer (1991)</a> estimated the prevalence at birth of ML II to be 1/6,184, giving a carrier frequency of 1/39. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937486" 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 27 parents of 16 deceased French Canadian children with ML II, <a href="#42" class="mim-tip-reference" title="Plante, M., Claveau, S., Lepage, P., Lavoie, E.-M., Brunet, S., Roquis, D., Morin, C., Vezina, H., Laprise, C. <strong>Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.</strong> Clin. Genet. 73: 236-244, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18190596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18190596</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18190596">Plante et al. (2008)</a> identified a 2-bp deletion (3503delTC; <a href="/entry/607840#0011">607840.0011</a>) in the GNPTAB gene. All parents carried the mutation in the heterozygous state, indicating that the children were likely homozygous. Genealogic data showed 6 founders (3 couples) with a high probability of having introduced the mutation in the population; all originated from France and were married in the Quebec region in the second half of the 17th century. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18190596" 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 haplotype analysis of 44 carriers of the 3503delTC mutation from various populations, <a href="#10" class="mim-tip-reference" title="Coutinho, M. F., Encarnacao, M., Gomes, R., da Silva Santos, L., Martins, S., Sirois-Gagnon, D., Bargal, R., Filocamo, M., Raas-Rothschild, A., Tappino, B., Laprise, C., Cury, G. K., Schwartz, I. V., Artigalas, O., Prata, M. J., Alves, S. <strong>Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.</strong> Clin. Genet. 80: 273-280, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20880125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20880125</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01539.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20880125">Coutinho et al. (2011)</a> found that 59 (97%) of 61 mutant chromosomes shared a common haplotype covering 4 of the 5 polymorphic markers analyzed, indicating a strong founder effect. The 2 remaining chromosomes, both from Italian patients, differed by alleles only at 1 marker. A common haplotype encompassing the 3503delTC mutation was shared by individuals of Italian, Arab-Muslim, Turkish, Argentinian, Brazilian, Irish Traveller, Portuguese, and Canadian origin. The mutation was estimated to have occurred about 2,063 years ago, most likely in a peri-Mediterranean region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20880125" 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="#5" class="mim-tip-reference" title="Bosshard, N. U., Hubler, M., Arnold, S., Briner, J., Spycher, M. A., Sommerlade, H.-J., von Figura, K., Gitzelmann, R. <strong>Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease.</strong> Vet. Path. 33: 1-13, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826001</a>] [<a href="https://doi.org/10.1177/030098589603300101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826001">Bosshard et al. (1996)</a> described spontaneous mucolipidosis in a cat, which they suggested might be useful in the study of human I-cell disease. The cat showed facial dysmorphism, large paws in relation to body size, dysostosis multiplex, and poor growth, as well as leukocytes and cultured fibroblasts which had the appearance of inclusion cells (I-cells). Activities of a set of lysosomal hydrolases were abnormally low in fibroblasts and excessive in blood plasma. Radiologic findings in the same cat by <a href="#23" class="mim-tip-reference" title="Hubler, M., Haskins, M. E., Arnold, S., Kaser-Hotz, B., Bosshard, N. U., Briner, J., Spycher, M. A., Gitzelmann, R., Sommerlade, H. -J., von Figura, K. <strong>Mucolipidosis type II in a domestic shorthair cat.</strong> J. Small Anim. Pract. 37: 435-441, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8887204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8887204</a>] [<a href="https://doi.org/10.1111/j.1748-5827.1996.tb02444.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8887204">Hubler et al. (1996)</a> revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalized decreased bone opacity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8887204+8826001" 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="#28" class="mim-tip-reference" title="Mazrier, H., Van Hoeven, M., Wang, P., Knox, V. W., Aguirre, G. D., Holt, E., Wiemelt, S. P., Sleeper, M. M., Hubler, M., Haskins, M. E., Giger, U. <strong>Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.</strong> J. Hered. 94: 363-373, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557388</a>] [<a href="https://doi.org/10.1093/jhered/esg080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557388">Mazrier et al. (2003)</a> described the inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II. They found that the activities of 3 lysosomal enzymes were high in serum but low in cultured fibroblasts that contained inclusion bodies (I-cells), reflecting the unique enzyme defect in ML II. Serum lysosomal enzyme activities of adult obligate carriers were intermediate between normal and affected values. Clinical features in affected kittens were observed from birth and included failure to thrive, behavioral dullness, facial dysmorphia, and ataxia. Radiologic lesions included metaphyseal flaring, radial bowing, joint laxity, and vertebral fusion. In contrast to human ML II, diffuse retinal degeneration leading to blindness by 4 months of age was seen in affected kittens. All clinical signs were progressive and euthanasia or death invariably occurred within the first few days to 7 months of life, often due to upper respiratory disease or cardiac failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557388" 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 an N-ethyl-N-nitrosourea mutagenesis screen, <a href="#41" class="mim-tip-reference" title="Paton, L., Bitoun, E., Kenyon, J., Priestman, D. A., Oliver, P. L., Edwards, B., Platt, F. M., Davies, K. E. <strong>A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.</strong> J. Biol. Chem. 289: 26709-26721, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25107912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25107912</a>] [<a href="https://doi.org/10.1074/jbc.M114.586156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25107912">Paton et al. (2014)</a> identified a line of mice with a novel mutation, termed Nymphe (nym), that caused growth retardation and ataxic gate. They identified the nym mutation as a c.2601T-A transversion in exon 13 of the Gnptab gene, resulting in a tyr867-to-ter (Y867X) substitution in the Gnptab preprotein prior to the cleavage signal between the alpha and beta subunits. The mutation resulted in a truncated alpha subunit, complete lack of the beta subunit, and retention of the alpha subunit in the endoplasmic reticulum. Whereas nym/+ mice appeared normal, nym/nym mutants had facial and skeletal abnormalities from birth, reduced fertility, progressive ataxia and motor incoordination, and elevated mortality. Nym/nym serum had abnormally high activity of lysosomal hydrolases, and tissues showed inclusion bodies indicative of lysosomal storage. Nym/nym brain showed atrophy, with progressive loss of cerebellar Purkinje cells. <a href="#41" class="mim-tip-reference" title="Paton, L., Bitoun, E., Kenyon, J., Priestman, D. A., Oliver, P. L., Edwards, B., Platt, F. M., Davies, K. E. <strong>A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.</strong> J. Biol. Chem. 289: 26709-26721, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25107912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25107912</a>] [<a href="https://doi.org/10.1074/jbc.M114.586156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25107912">Paton et al. (2014)</a> concluded that the nym mutation produces a mouse model that recapitulates the human pathology of mucolipidosis II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25107912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Champion1977" class="mim-tip-reference" title="Champion, M. J., Shows, T. B. <strong>Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.</strong> Am. J. Hum. Genet. 29: 149-163, 1977.">Champion and Shows (1977)</a>; <a href="#Champion1977" class="mim-tip-reference" title="Champion, M. J., Shows, T. B. <strong>Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.</strong> Am. J. Hum. Genet. 29: 149-163, 1977.">Champion and Shows (1977)</a>; <a href="#d'Azzo1980" class="mim-tip-reference" title="d'Azzo, A., Konings, A., Verkerk, A., Jongkind, J. F., Galjaard, H. <strong>Fusion with enucleated fibroblasts corrects 'I-cell' defect.</strong> Exp. Cell Res. 127: 484-488, 1980.">d'Azzo et al.
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(1980)</a>; <a href="#d'Azzo1980" class="mim-tip-reference" title="d'Azzo, A., Konings, A., Verkerk, A., Jongkind, J. F., Galjaard, H. <strong>Fusion with enucleated fibroblasts corrects 'I-cell' defect.</strong> Exp. Cell Res. 127: 484-488, 1980.">d'Azzo et al. (1980)</a>; <a href="#Demars1967" class="mim-tip-reference" title="Demars, R. I., Leroy, J. G. <strong>The remarkable cells cultured from a human with Hurler's syndrome. An approach to visual selection for in vitro genetic studies.</strong> In Vitro 2: 107, 1967.">Demars and Leroy (1967)</a>; <a href="#Gilbert1973" class="mim-tip-reference" title="Gilbert, E. F., Dawson, G., ZuRhein, G. M., Opitz, J. M., Spranger, J. W. <strong>I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.</strong> Z. Kinderheilk. 114: 259-292, 1973.">Gilbert et al.
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(1973)</a>; <a href="#Hanai1971" class="mim-tip-reference" title="Hanai, J., Leroy, J., O'Brien, J. S. <strong>Ultrastructure of cultured fibroblasts in I-cell disease.</strong> Am. J. Dis. Child. 122: 34-38, 1971.">Hanai et al. (1971)</a>; <a href="#Honey1981" class="mim-tip-reference" title="Honey, N. K., Mueller, O. T., Miller, A. L., Shows, T. B. <strong>Genetic heterogeneity within pseudo-Hurler polydystrophy. (Abstract)</strong> Am. J. Hum. Genet. 33: 146A, 1981.">Honey et al. (1981)</a>; <a href="#Leroy1967" class="mim-tip-reference" title="Leroy, J. G., Demars, R. I. <strong>Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.</strong> Science 157: 804-806, 1967.">Leroy and Demars
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(1967)</a>; <a href="#Mueller1983" class="mim-tip-reference" title="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.">Mueller et al. (1983)</a>; <a href="#Nagashima1977" class="mim-tip-reference" title="Nagashima, K., Sakakibara, K., Endo, H., Konishi, Y., Nakamura, N., Suzuki, Y., Abe, T. <strong>I-cell disease (mucolipidosis II): pathological and biochemical studies of an autosomal case.</strong> Acta Path. Jpn. 27: 251-264, 1977.">Nagashima et al. (1977)</a>; <a href="#Okada1978" class="mim-tip-reference" title="Okada, S., Kato, T., Miura, S., Yabuuchi, H., Nishigaki, M., Kabata, A., Chiyo, H., Furuyama, J.-I. <strong>Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis.</strong> Clin. Chim. Acta 86: 159-167, 1978.">Okada et al.
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(1978)</a>; <a href="#Okada1985" class="mim-tip-reference" title="Okada, S., Owada, M., Sakiyama, T., Yutaka, T., Ogawa, M. <strong>I-cell disease: clinical studies of 21 Japanese cases.</strong> Clin. Genet. 28: 207-215, 1985.">Okada et al. (1985)</a>; <a href="#Strecker1976" class="mim-tip-reference" title="Strecker, G., Michalski, J. C., Montreuil, J., Farriaux, J.-P. <strong>Defect in neuraminidase associated with mucolipidosis II (I-cell disease).</strong> Biomedicine 25: 238-240, 1976.">Strecker et al. (1976)</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. <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.">Strecker et al.
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(1977)</a>; <a href="#Varki1982" class="mim-tip-reference" title="Varki, A., Reitman, M. L., Vannier, A., Kornfeld, S., Grubb, J. H., Sly, W. S. <strong>Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.</strong> Am. J. Hum. Genet. 34: 717-729, 1982.">Varki et al. (1982)</a>; <a href="#Whelan1983" class="mim-tip-reference" title="Whelan, D. T., Chang, P. L., Cockshott, P. W. <strong>Mucolipidosis II: the clinical, radiological and biochemical features in three cases.</strong> Clin. Genet. 24: 90-96, 1983.">Whelan et al. (1983)</a>; <a href="#Wilcox1998" class="mim-tip-reference" title="Wilcox, W. R., Lucas, B. C., Loebel, B., Bachman, R. P., Lachman, R. S., Rimoin, D. L. <strong>Pacman dysplasia: report of two affected sibs.</strong> Am. J. Med. Genet. 77: 272-276, 1998.">Wilcox et al.
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1042/bj2480697" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/030098589603300101" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32193" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/270064a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01539.x" target="_blank">Full Text</a>]
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<a id="Hanai1971" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5567403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5567403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5567403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1971.02110010070011" target="_blank">Full Text</a>]
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</p>
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<strong>Thyroglobulin, the major and obligatory exportable protein of thyroid follicle cells, carries the lysosomal recognition marker mannose-6-phosphate.</strong>
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[<a href="https://doi.org/10.1002/j.1460-2075.1987.tb04790.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(72)90310-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320090310" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1748-5827.1996.tb02444.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.157.3790.804" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197210000-00002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/jhered/esg080" target="_blank">Full Text</a>]
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<strong>Mucolipidosis II: unusual presentation with a congenital angulated fracture.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb00754.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00247-002-0859-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111025" target="_blank">Full Text</a>]
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<strong>Chromosomal assignment of N-acetylglucosaminylphosphotransferase, the lysosomal hydrolase targeting enzyme deficient in mucolipidosis II and III. (Abstract)</strong>
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[<a href="https://doi.org/10.1016/0009-8981(78)90129-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01865.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00388.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM200010123431507" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/jhg.2009.3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.20205" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.M114.586156" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00954.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320040211" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30716" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320120312" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/jcb.1982.240180107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278928" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0304-4165(76)90378-0" target="_blank">Full Text</a>]
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<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>
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[<a href="https://doi.org/10.1111/j.1432-1033.1977.tb11540.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(76)90267-9" target="_blank">Full Text</a>]
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<a id="Tiede2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Tiede, S., Storch, S., Lubke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A., Braulke, T.
|
|
<strong>Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.</strong>
|
|
Nature Med. 11: 1109-1112, 2005.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16200072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16200072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16200072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm1305" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="57" class="mim-anchor"></a>
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<a id="Varki1981" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Varki, A., Reitman, M. L., Kornfeld, S.
|
|
<strong>The enzymatic defect in I-cell disease (ML II) and pseudo-Hurler polydystrophy (ML III). (Abstract)</strong>
|
|
Clin. Res. 29: 514A, 1981.
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</p>
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</div>
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</li>
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<li>
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<a id="58" class="mim-anchor"></a>
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<a id="Varki1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Varki, A., Reitman, M. L., Vannier, A., Kornfeld, S., Grubb, J. H., Sly, W. S.
|
|
<strong>Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.</strong>
|
|
Am. J. Hum. Genet. 34: 717-729, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6289658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6289658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6289658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="59" class="mim-anchor"></a>
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<a id="Vidgoff1977" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Vidgoff, J., Buist, N. R.
|
|
<strong>Serum hexosaminidase activity in I-cell disease carriers.</strong>
|
|
Hum. Genet. 36: 307-316, 1977.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00446281" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="60" class="mim-anchor"></a>
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<a id="Vidgoff1982" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Vidgoff, J., Rowe, S., Stafford, R., Buist, N. R. M., Lovrien, E. W.
|
|
<strong>Localization of the gene for I-cell disease (mucolipidosis II). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 34: 64A, 1982.
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</p>
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</div>
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</li>
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<li>
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<a id="61" class="mim-anchor"></a>
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<a id="Vladutiu1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Vladutiu, G. D., Rattazzi, M. C.
|
|
<strong>Abnormal lysosomal hydrolase excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).</strong>
|
|
Biochem. Biophys. Res. Commun. 67: 956-964, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1201084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1201084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1201084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0006-291x(75)90768-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="62" class="mim-anchor"></a>
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<a id="Whelan1983" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Whelan, D. T., Chang, P. L., Cockshott, P. W.
|
|
<strong>Mucolipidosis II: the clinical, radiological and biochemical features in three cases.</strong>
|
|
Clin. Genet. 24: 90-96, 1983.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6137302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6137302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6137302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb02218.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="63" class="mim-anchor"></a>
|
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<a id="Wiesmann1971" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wiesmann, U. N., Rossi, E. E., Herschkowitz, N. N.
|
|
<strong>Treatment of metachromatic leukodystrophy in fibroblasts by enzyme replacement. (Letter)</strong>
|
|
New Eng. J. Med. 284: 672-673, 1971.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5545612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5545612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5545612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197103252841214" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="64" class="mim-anchor"></a>
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<a id="Wilcox2005" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Wenger, D. A.
|
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<strong>Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].</strong>
|
|
Am. J. Med. Genet. 135A: 333 only, 2005.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15887286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15887286</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15887286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30717" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="65" class="mim-anchor"></a>
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<a id="Wilcox1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Wilcox, W. R., Lucas, B. C., Loebel, B., Bachman, R. P., Lachman, R. S., Rimoin, D. L.
|
|
<strong>Pacman dysplasia: report of two affected sibs.</strong>
|
|
Am. J. Med. Genet. 77: 272-276, 1998.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="66" class="mim-anchor"></a>
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<a id="Wright1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wright, C. E., Miller, A. L., Shows, T. B.
|
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<strong>Complementation analysis of the mucolipidoses demonstrates genetic heterogeneity. (Abstract)</strong>
|
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Am. J. Hum. Genet. 31: 66A, 1979.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 03/07/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/4/2011<br>Cassandra L. Kniffin - updated : 5/25/2010<br>Cassandra L. Kniffin - updated : 5/6/2008<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Victor A. McKusick - updated : 10/16/2007<br>Ada Hamosh - updated : 6/28/2007<br>Marla J. F. O'Neill - updated : 10/26/2005<br>Marla J. F. O'Neill - updated : 7/12/2005<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 12/10/2002<br>Victor A. McKusick - updated : 10/23/2000<br>Beat Steinmann - updated : 11/22/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/24/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 03/07/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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terry : 03/14/2013<br>carol : 10/27/2011<br>terry : 10/26/2011<br>carol : 10/11/2011<br>ckniffin : 10/4/2011<br>wwang : 6/1/2010<br>ckniffin : 5/25/2010<br>ckniffin : 5/24/2010<br>wwang : 5/12/2008<br>ckniffin : 5/6/2008<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>wwang : 10/31/2005<br>terry : 10/26/2005<br>carol : 7/15/2005<br>terry : 7/12/2005<br>terry : 7/12/2005<br>alopez : 3/17/2004<br>cwells : 11/20/2003<br>terry : 11/18/2003<br>carol : 5/30/2003<br>carol : 5/30/2003<br>terry : 12/10/2002<br>terry : 10/23/2000<br>carol : 7/27/1999<br>carol : 7/27/1999<br>alopez : 7/10/1997<br>joanna : 11/25/1996<br>jamie : 11/22/1996<br>mark : 11/15/1996<br>terry : 11/6/1996<br>mimman : 2/8/1996<br>mark : 9/13/1995<br>pfoster : 9/7/1994<br>warfield : 4/15/1994<br>terry : 2/17/1994<br>carol : 4/1/1992<br>supermim : 3/17/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 252500
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
|
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|
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MUCOLIPIDOSIS II ALPHA/BETA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
MUCOLIPIDOSIS II; ML II<br />
|
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ML II ALPHA/BETA<br />
|
|
I-CELL DISEASE; ICD
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 70199000;
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<strong>ORPHA:</strong> 576;
|
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<strong>DO:</strong> 0080070;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
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</th>
|
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<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>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
12q23.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucolipidosis II alpha/beta
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
252500
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GNPTAB
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607840
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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 II alpha/beta, also known as I-cell disease, is caused by homozygous or compound heterozygous mutation in the GNPTAB gene (607840).</p><p>Mucolipidosis III alpha/beta (252600), or pseudo-Hurler polydystrophy, is also caused by mutation in the GNPTAB gene.</p><p>A mucolipidosis variant called mucolipidosis III gamma (252605) is caused by mutations in the GNPTG gene (607838).</p>
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<strong>Nomenclature</strong>
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<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>
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<strong>Description</strong>
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<p>Mucolipidosis type II 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 more severe than the allelic disorder mucolipidosis type III alpha/beta (summary by Paik et al., 2005). </p>
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<strong>Clinical Features</strong>
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<p>Mucolipidosis II is a Hurler (607014)-like condition with severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. Retarded psychomotor development, clear corneas, and restricted joint mobility are other features. Leroy et al. (1969) first described this condition and named it I-cell disease (for 'inclusion cell disease'). Abnormal inclusions were found in the fibroblasts of some heterozygotes. Both sexes were affected in early reports; sibs were affected in 2 families and the parents of 1 of the patients of Spranger and Wiedemann (1970) were first cousins. </p><p>Michels et al. (1982) pointed out that ML II should be added to the list of disorders that can show intrauterine fractures. </p><p>Beck et al. (1995) analyzed the inter- and intrafamilial variability in I-cell disease based on 9 patients. Although they all had disproportionate dwarfism, coarse facial features, and mental retardation, there was remarkable variability in age of onset, organ manifestation, and radiologic findings. Some had unusual clinical symptoms, including pericardial effusion and profound brain atrophy. Differences were seen even in 2 affected sibs: a brother survived to the age of 8 years, dying of bronchial pneumonia, whereas a sister died from cardiac failure at the age of 2 months, and another sister died at 29 days following a similar course. </p><p>Encarnacao et al. (2009) reported 9 unrelated patients with ML II alpha/beta. All had onset before 1 year of age, except 2 who had onset at 4 and 22 months, respectively. Clinical features included psychomotor retardation, coarse dysmorphic facial features, gingival hyperplasia, hip dysplasia, growth retardation, and restricted joint movement. Biochemical studies showed increased activity of several lysosomal enzymes in the serum and decreased activity of these enzymes in fibroblasts. </p>
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<strong>Biochemical Features</strong>
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<p>Leroy et al. (1972) found no accumulation of lipid in brain and viscera and no accumulation of mucopolysaccharide in these tissues or fibroblasts. For this reason they questioned the appropriation of the designation 'mucolipidosis.' </p><p>Deficiency of sialidase (neuraminidase) has been reported in cultured fibroblasts (Thomas et al., 1976) and in leukocytes (Strecker et al., 1976). Furthermore, a sialyl-hexasaccharide is excreted in the urine in considerable amounts (Strecker et al., 1976). Sialic acid levels were increased 3- to 4-fold in cultured ML II cells, but were normal in 9 other lysosomal diseases. </p><p>Vladutiu and Rattazzi (1975) found electrophoretic abnormality of lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease and alteration of this mobility by treatment with neuraminidase. Presumably the higher electronegative charge of I-cell hydrolases at pH 6 resulted from sialic acid residues not present on enzyme excreted by normal cells. </p><p>Complementation studies suggested that ML II and ML III are determined by mutations at separate loci (Wright et al., 1979). However, by cell fusion studies, Honey et al. (1981) and Shows et al. (1982) demonstrated 2 ML II complementation groups and 3 ML III complementation groups. No complementation was observed between one of the ML II types and one of the ML III types. </p><p>Honey et al. (1981) found differing electrophoretic patterns of lysosomal enzymes in cases with the ML II phenotype, suggesting heterogeneity (at least 2 classes). In all cases of both ML II and ML III, deficiency has been found in only one enzyme, the GlcNAc-1-P transferase that attaches GlcNAc-1-P to mannose residues of multiple lysosomal enzymes. Defects in the diesterase that exposes the mannose-6-phosphate marker have not been identified (Sly, 1981). Different defects in the transferase have been found, e.g., an abnormality of the enzyme such that it does not recognize mannose as a substrate. The receptor for lysosomal enzyme necessary for transfer of enzymes to lysosomes is present in all tissues. No receptor-negative mutants had yet been recognized. </p><p>Thomas et al. (1982) reported studies of a patient with an atypical form of ML II and presented evidence that the patient was mosaic for 2 populations of cells, one with the I-cell mutation and one normal. They found no evidence of twin chimerism from genetic marker studies. </p><p>Okada et al. (1983) showed heterogeneity of ICD lines in the ability of sucrose loading in vitro to induce hydrolases. ML II illustrates nicely the principle that demonstration of an intermediate level of enzyme activity in heterozygotes is a valuable indicator that that enzyme is the site of the primary defect. Although the activity of lysosomal enzymes is low in cells of affected persons, normal levels are found in heterozygotes. (An exception to this statement is the report by Potier et al. (1979) who found intermediate levels of neuraminidase activity in obligatory heterozygotes.) On the other hand, the activity of GlcNAc-1-P transferase is intermediate in ML II heterozygotes (Shows, 1983). </p><p>Ben-Yoseph et al. (1987) found abnormally small N-acetylglucosamine 1-phosphotransferase enzyme in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised 1 complementation group characterized by deficiency toward both artificial and natural acceptor substrates. The size of the enzyme varied from 151-174 kD, compared with the normal of 225-278 kD. The mutant enzyme from cell lines of patients with variant forms of pseudo-Hurler polydystrophy, which comprised another complementation group characterized by normal activity toward monosaccharide and oligosaccharide substrates, was significantly larger than the normal enzyme, ranging from 321-356 kD in 2 families and from 528-547 kD in a third family. </p>
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<strong>Pathogenesis</strong>
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<p>In a review of genetic defects of intracellular membrane transport, Olkkonen and Ikonen (2000) referred to ML II as the prototypic genetic disorder affecting the machinery of protein sorting. </p><p>Wiesmann et al. (1971) concluded that the defect leads to leakage of lysosomal enzymes from the cell. Cultured fibroblasts showed low levels of 4 lysosomal enzymes whereas the level of these enzymes in the culture medium was high. </p><p>Hickman and Neufeld (1972) presented evidence for their hypothesis that the mutation in I-cell disease is in an enzyme which modifies several lysosomal enzymes to guarantee their recognition by cells and re-entry into cells from the intercellular space into which the enzymes have been secreted by the synthesizing cells. There was precedence for the idea that carbohydrate side chains of glycoproteins control entry of the proteins into liver cells (Morell et al., 1971). This hypothesis would explain why multiple enzymes are high in the medium in which I-cells are grown and low in the cells themselves. It was an alternative to the 'leaky lysosome' hypothesis of Wiesmann et al. (1971). The evidence presented by Hickman and Neufeld (1972) was of several types. For example, they found that alpha-1-iduronidase produced by I-cells did not 'correct' Hurler cells whereas semipurified iduronidase from urine and medium in which normal cells have grown does correct the metabolic defect of Hurler cells. The Neufeld hypothesis was an alternative to the Novikoff hypothesis which suggested that the acid hydrolases are packaged in the lysosomes directly after synthesis in the Golgi apparatus. This may indeed be true for some lysosomal enzymes because acid phosphatase and beta-glucosidase have normal activities in I cells. </p><p>Sly et al. (1977) presented evidence that lysosomal enzymes that are capable of being taken up by cells through pinocytosis (high uptake form of lysosomal enzymes) are phosphoglycoproteins. This is consistent with the destruction of uptake by treatment of the enzyme with periodate or with alkaline phosphatase. More specifically a phosphomonoester of mannose appears to be the recognition marker for many lysosomal enzymes.</p><p>Varki et al. (1981) showed that the basic defect in mucolipidoses II and III is in 1 of the 2 enzymes involved in generation of the phosphomannosyl residues on acid hydrolases that serve as specific recognition markers for targeting these enzymes to lysosomes. The first of these enzymes, N-acetylglucosamine-1-phosphotransferase (GNPTA; 607840), was deficient in 5 cases of I-cell disease and 10 cases of pseudo-Hurler polydystrophy. No enzyme activity was found in the first group; residual enzyme activity in the second group provides an explanation for the milder phenotype. These may be allelic disorders. Presumably a defect in the second enzyme involved in generating the phosphomannosyl residues, acetylglucosaminyl phosphodiesterase, could also lead to mucolipidosis. In the cases studied, the second enzyme was normal or elevated.</p><p>By the study of cell lines deficient in the mannose 6-phosphate receptor, Gabel et al. (1983) demonstrated that an alternative mechanism for delivery of acid hydrolases to lysosomal organelles exists in some cells. A succinct statement of the usual mechanism was given, and the review by Sly and Fischer (1982) was referenced. </p><p>Kornfeld (1986) reviewed the 'trafficking of lysosomal enzymes in normal and disease states.' He gave a table of 6 types of lysosomal storage diseases, with examples: those in which no immunologically detectable enzyme is produced (includes conditions with grossly abnormal structural genes); those in which a catalytically inactive polypeptide is synthesized (includes mutations affecting stability or transport of the polypeptide); those in which a catalytically active enzyme is synthesized but not segregated into lysosomes; those in which a catalytically active enzyme is synthesized but is unstable in prelysosomal or lysosomal compartments; those in which an activator protein of a lipid-degrading hydrolase is missing, e.g., 249900; and those in which lysosomal enzyme deficiencies result from intoxication by an inhibitor of a lysosomal enzyme. Kornfeld (1986) provided a graphic diagram of the pathway of lysosomal enzyme targeting to lysosomes. See 154570 for a further illustration of the elucidation of lysosomal enzyme trafficking by study of another 'experiment of nature.' Herzog et al. (1987) found that thyroglobulin (188450) carries the lysosomal recognition marker mannose-6-phosphate. This finding is consistent with the fact that the ultimate destination of TG is the lysosomal compartment, where thyroid hormones are released by proteolytic degradation. However, the thyroglobulin is first exported to the thyroid follicle and then recaptured for the release of thyroid hormone. </p>
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<strong>Diagnosis</strong>
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<p>Vidgoff et al. (1982) studied a population isolate with several couples at risk for ICD and concluded that carriers can be identified by serum levels of beta-D-hexosaminidase B (Vidgoff and Buist, 1977). </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Ben-Yoseph et al. (1988) demonstrated the usefulness of specific enzyme diagnosis on the basis of chorion villus samples. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Saul et al. (2005) reported a female sib of a male fetus that had previously been diagnosed with Pacman dysplasia (167220) by Miller et al. (2003). She had a clinical course and biochemical, cytologic, and radiographic features consistent with the diagnosis of ML II. Saul et al. (2005) suggested that what is called Pacman dysplasia may represent a prenatal manifestation of ML II. Wilcox et al. (2005) argued that Pacman dysplasia is distinct from ML II, but that radiographic and morphologic criteria cannot be used to distinguish between them. In order to make a definitive diagnosis, pathologic material must be examined for lysosomal storage or enzyme assays must be performed. </p>
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<strong>Mapping</strong>
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<p>Vidgoff et al. (1982) found possible linkage of ML II to MN (111300) with a lod score of 1.3. Mueller et al. (1987) determined the chromosome assignment of the structural gene altered in the common forms of ML II and ML III, designated GNPTA, by linkage analysis, somatic cell hybrids, and gene dosage. Linkage data with ML II families indicated that the ML II locus is located between GC (139200) and MNS (111300). The combined data indicated that GNPTA maps to 4q21-q23.</p><p>Canfield et al. (1998) stated that the GNPTA gene maps to chromosome 12p.</p>
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<strong>Molecular Genetics</strong>
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<p>Canfield et al. (1998) found that in 4 of 4 patients with mucolipidosis II, the GNPTA transcript was absent. In 2 of 2 patients with mucolipidosis IIIA, the GNPTA transcript was present but greatly reduced. In all ML II and ML III patients examined, GNPTAG (607838) was present at normal levels.</p><p>In 3 unrelated Korean girls with type II mucolipidosis characterized by a decelerating growth pattern from infancy and cardiac abnormalities, Paik et al. (2005) identified compound heterozygosity for 5 different mutations in the GNPTAB gene (607840.0003-607840.0007). </p><p>In 6 patients with clinically and biochemically diagnosed mucolipidosis II, Tiede et al. (2005) identified homozygosity or compound heterozygosity for 7 mutations in the GNPTAB gene, all resulting in premature translational termination (e.g., 607840.0010). </p><p>Bargal et al. (2006) studied GNPTAB 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>
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<strong>Genotype/Phenotype Correlations</strong>
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<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>
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<strong>Population Genetics</strong>
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<p>In the French-Canadian population of the Saguenay-Lac-Saint-Jean region of Quebec province, De Braekeleer (1991) estimated the prevalence at birth of ML II to be 1/6,184, giving a carrier frequency of 1/39. </p><p>In 27 parents of 16 deceased French Canadian children with ML II, Plante et al. (2008) identified a 2-bp deletion (3503delTC; 607840.0011) in the GNPTAB gene. All parents carried the mutation in the heterozygous state, indicating that the children were likely homozygous. Genealogic data showed 6 founders (3 couples) with a high probability of having introduced the mutation in the population; all originated from France and were married in the Quebec region in the second half of the 17th century. </p><p>By haplotype analysis of 44 carriers of the 3503delTC mutation from various populations, Coutinho et al. (2011) found that 59 (97%) of 61 mutant chromosomes shared a common haplotype covering 4 of the 5 polymorphic markers analyzed, indicating a strong founder effect. The 2 remaining chromosomes, both from Italian patients, differed by alleles only at 1 marker. A common haplotype encompassing the 3503delTC mutation was shared by individuals of Italian, Arab-Muslim, Turkish, Argentinian, Brazilian, Irish Traveller, Portuguese, and Canadian origin. The mutation was estimated to have occurred about 2,063 years ago, most likely in a peri-Mediterranean region. </p>
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<p>Bosshard et al. (1996) described spontaneous mucolipidosis in a cat, which they suggested might be useful in the study of human I-cell disease. The cat showed facial dysmorphism, large paws in relation to body size, dysostosis multiplex, and poor growth, as well as leukocytes and cultured fibroblasts which had the appearance of inclusion cells (I-cells). Activities of a set of lysosomal hydrolases were abnormally low in fibroblasts and excessive in blood plasma. Radiologic findings in the same cat by Hubler et al. (1996) revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalized decreased bone opacity. </p><p>Mazrier et al. (2003) described the inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II. They found that the activities of 3 lysosomal enzymes were high in serum but low in cultured fibroblasts that contained inclusion bodies (I-cells), reflecting the unique enzyme defect in ML II. Serum lysosomal enzyme activities of adult obligate carriers were intermediate between normal and affected values. Clinical features in affected kittens were observed from birth and included failure to thrive, behavioral dullness, facial dysmorphia, and ataxia. Radiologic lesions included metaphyseal flaring, radial bowing, joint laxity, and vertebral fusion. In contrast to human ML II, diffuse retinal degeneration leading to blindness by 4 months of age was seen in affected kittens. All clinical signs were progressive and euthanasia or death invariably occurred within the first few days to 7 months of life, often due to upper respiratory disease or cardiac failure. </p><p>In an N-ethyl-N-nitrosourea mutagenesis screen, Paton et al. (2014) identified a line of mice with a novel mutation, termed Nymphe (nym), that caused growth retardation and ataxic gate. They identified the nym mutation as a c.2601T-A transversion in exon 13 of the Gnptab gene, resulting in a tyr867-to-ter (Y867X) substitution in the Gnptab preprotein prior to the cleavage signal between the alpha and beta subunits. The mutation resulted in a truncated alpha subunit, complete lack of the beta subunit, and retention of the alpha subunit in the endoplasmic reticulum. Whereas nym/+ mice appeared normal, nym/nym mutants had facial and skeletal abnormalities from birth, reduced fertility, progressive ataxia and motor incoordination, and elevated mortality. Nym/nym serum had abnormally high activity of lysosomal hydrolases, and tissues showed inclusion bodies indicative of lysosomal storage. Nym/nym brain showed atrophy, with progressive loss of cerebellar Purkinje cells. Paton et al. (2014) concluded that the nym mutation produces a mouse model that recapitulates the human pathology of mucolipidosis II. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Champion and Shows (1977); Champion and Shows (1977); d'Azzo et al.
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(1980); d'Azzo et al. (1980); Demars and Leroy (1967); Gilbert et al.
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(1973); Hanai et al. (1971); Honey et al. (1981); Leroy and Demars
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(1967); Mueller et al. (1983); Nagashima et al. (1977); Okada et al.
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(1978); Okada et al. (1985); Strecker et al. (1976); Strecker et al.
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(1977); Varki et al. (1982); Whelan et al. (1983); Wilcox et al.
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(1998)
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</span>
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<strong>REFERENCES</strong>
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</span>
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<p />
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<ol>
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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.
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<strong>When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients.</strong>
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Molec. Genet. Metab. 88: 359-363, 2006. Note: Erratum: Molec. Genet. Metab. 91: 299 only, 2007.
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[PubMed: 16630736]
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[Full Text: https://doi.org/10.1016/j.ymgme.2006.03.003]
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Patricia A. Hartz - updated : 03/07/2018<br>Cassandra L. Kniffin - updated : 10/4/2011<br>Cassandra L. Kniffin - updated : 5/25/2010<br>Cassandra L. Kniffin - updated : 5/6/2008<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Victor A. McKusick - updated : 10/16/2007<br>Ada Hamosh - updated : 6/28/2007<br>Marla J. F. O'Neill - updated : 10/26/2005<br>Marla J. F. O'Neill - updated : 7/12/2005<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 12/10/2002<br>Victor A. McKusick - updated : 10/23/2000<br>Beat Steinmann - updated : 11/22/1996
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Victor A. McKusick : 6/24/1986
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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