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Entry
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- #272200 - MULTIPLE SULFATASE DEFICIENCY; MSD
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- OMIM
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<p>
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<span class="h4">#272200</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/272200"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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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="#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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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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>
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<div id="mimExternalLinksFold" class="collapse in">
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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="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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</span>
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</span>
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</div>
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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=MULTIPLE SULFATASE DEFICIENCY" 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=6&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/NBK538937/" 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/4972" 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/multiple-sulfatase-deficiency" 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=272200[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=585" 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/5b169d26-ddba-4b4e-883f-0df03e6459f9/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:0050441" 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/272200" 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>
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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="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:272200" 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> 54898003<br />
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<strong>ICD10CM:</strong> E75.26<br />
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<strong>ORPHA:</strong> 585<br />
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<strong>DO:</strong> 0050441<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
272200
|
|
</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>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MULTIPLE SULFATASE DEFICIENCY; MSD
|
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|
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</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
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<br />
|
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</div>
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<div>
|
|
<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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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
MUCOSULFATIDOSIS<br />
|
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SULFATIDOSIS, JUVENILE, AUSTIN TYPE
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
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|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/15?start=-3&limit=10&highlight=15">
|
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3p26.1
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Multiple sulfatase deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/272200"> 272200 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<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>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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SUMF1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607939"> 607939 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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</tbody>
|
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</table>
|
|
</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/272200" 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>
|
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|
|
<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/272200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/272200" 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>
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002003</a>]</span><br /> -
|
|
Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" 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 /> -
|
|
Periorbital edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49563000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49563000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151205</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100539</a>]</span><br /> -
|
|
Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" 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 facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279443</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Corneal clouding (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279444</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
|
|
Retinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95695004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95695004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Upturned nose <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>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
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<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 />
|
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</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
|
</div>
|
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</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Dysostosis multiplex <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254069004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254069004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000943</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic vertebral bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008479</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008479" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008479</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span><br /> -
|
|
Broad index fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279445</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">
|
|
|
|
- Ichthyosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <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">[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> 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 /> -
|
|
Neurologic deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002344</a>]</span><br /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
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Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Hyperreflexia of the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002395</a>]</span><br /> -
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
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Demyelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32693004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32693004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878575</a>, <a href="https://bioportal.bioontology.org/search?q=C0011304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span><br /> -
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Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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Cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br /> -
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Dilated ventricles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6210001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6210001</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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a>, <a href="https://bioportal.bioontology.org/search?q=C0264733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
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Periventricular white matter abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002518</a>]</span><br />
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</span>
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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 style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Decreased activities of multiple sulfatases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279446</a>]</span><br /> -
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Urinary excretion of mucopolysaccharides <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279447</a>]</span><br /> -
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Accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279448</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset usually in the first 4 years of life<br /> -
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Neonatal and late-infantile onset<br /> -
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Later onset is associated with slower progression and lesser severity<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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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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- Caused by mutation in the sulfatase-modifying factor 1 gene (SUMF1, <a href="/entry/607939#0001">607939.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because multiple sulfatase deficiency (MSD) is caused by homozygous or compound heterozygous mutation in the sulfatase-modifying factor-1 gene (SUMF1; <a href="/entry/607939">607939</a>) on chromosome 3p26.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<div class="mim-changed mim-change"><p>Multiple sulfatase deficiency (MSD) is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (<a href="/entry/250100">250100</a>) and of various mucopolysaccharidoses (see, e.g., MPS6; <a href="/entry/253200">253200</a>). Affected individuals show neurologic deterioration with impaired intellectual development, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (<a href="#6" class="mim-tip-reference" title="Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B., Cuevas-Covarrubias, S. A. <strong>Unusual clinical presentation in two cases of multiple sulfatase deficiency.</strong> Pediat. Derm. 18: 388-392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737681</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2001.01959.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11737681">Blanco-Aguirre et al., 2001</a>) (summary by <a href="#24" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21224894+11737681" 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></div>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>The clinical features of multiple sulfatase deficiency are an interesting composite of those seen with deficiency of the individual sulfatases. <a href="#19" class="mim-tip-reference" title="Kihara, H. <strong>Genetic heterogeneity in metachromatic leukodystrophy.</strong> Am. J. Hum. Genet. 34: 171-181, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6122378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6122378</a>]" pmid="6122378">Kihara (1982)</a> pointed out that multiple sulfatase deficiency combines the enzyme deficiency and phenotypic features of at least six entities: metachromatic leukodystrophy (<a href="/entry/250100">250100</a>), Maroteaux-Lamy syndrome (<a href="/entry/253200">253200</a>), X-linked ichthyosis (<a href="/entry/308100">308100</a>), Hunter syndrome (<a href="/entry/309900">309900</a>), Sanfilippo A syndrome (<a href="/entry/252900">252900</a>), and Morquio syndrome (<a href="/entry/253000">253000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6122378" 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="Mossakowski, M., Mathieson, G., Cumings, J. N. <strong>On the relationship of metachromatic leucodystrophy and amaurotic idiocy.</strong> Brain 84: 585-604, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14476546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14476546</a>] [<a href="https://doi.org/10.1093/brain/84.4.585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14476546">Mossakowski et al. (1961)</a> reported 3 affected sibs, and <a href="#2" class="mim-tip-reference" title="Austin, J. H. <strong>Metachromatic leukodystrophy. In: Carter, C. C.: Medical Aspects of Mental Retardation.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1965. P. 768."None>Austin (1965)</a> reported 2 affected sibs. <a href="#22" class="mim-tip-reference" title="Rampini, S., Isler, W., Baerlocher, K., Bischoff, A., Ulrich, J. A., Pluss, H. J. <strong>Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstaendiges Krankheitsbild (Mukosulfatidose).</strong> Helv. Paediat. Acta 25: 436-461, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4250178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4250178</a>]" pmid="4250178">Rampini et al. (1970)</a> reported 3 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4250178+14476546" 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>Some patients initially suspected of having Hunter syndrome may have multiple sulfatase deficiency in which deficiency of iduronate sulfatase dominates. Burk et al. (<a href="#9" class="mim-tip-reference" title="Burk, R., Valle, D., Thomas, G., Moser, A., Moser, H., Rosenbaum, K., Schmid, K. <strong>Multiple sulfatase deficiency (MSD): clinical and biochemical studies in two patients. (Abstract)</strong> Am. J. Hum. Genet. 33: 73A only, 1981."None>1981</a>, <a href="#8" class="mim-tip-reference" title="Burk, R. D., Valle, D., Thomas, G. H., Miller, C., Moser, A., Moser, H., Rosenbaum, K. N. <strong>Early manifestations of multiple sulfatase deficiency.</strong> J. Pediat. 104: 574-578, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6142938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6142938</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)80550-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6142938">1984</a>) reported 2 cases that had been mistakenly diagnosed as Hunter syndrome. In both, developmental delay dated from birth. Increased urinary mucopolysaccharides had a pattern different from that in mucopolysaccharidosis (heparan sulfate 39%, dermatan sulfate 21%, chondroitin sulfate C 40%). Abnormally broad great toes were found in both, and ichthyosis developed at an early age. Limitation in extension at the elbows and radiologic changes of dysostosis multiplex were suggestive of a mucopolysaccharidosis. The defect in this disorder may be similar to that in combined beta-galactosidase/neuraminidase deficiency; the defect may reside in a molecule necessary to protect the multiple sulfatases against excessive intralysosomal degradation and to assure their full hydrolytic capacity. If this is the explanation, then the activity of the molecule must not be limited to the intralysosomal site: 6 of the enzymes are lysosomal, whereas steroid sulfatase is microsomal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6142938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J. <strong>Multiple sulphatase deficiency presenting at birth.</strong> Clin. Genet. 30: 409-415, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100114</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01899.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3100114">Burch et al. (1986)</a> described a neonatal case of multiple sulfatase deficiency. In most reported cases the clinical phenotype resembles late infantile metachromatic leukodystrophy at presentation, but patients later develop ichthyosis and features of a mucopolysaccharidosis. The patient reported by <a href="#7" class="mim-tip-reference" title="Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J. <strong>Multiple sulphatase deficiency presenting at birth.</strong> Clin. Genet. 30: 409-415, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3100114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3100114</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01899.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3100114">Burch et al. (1986)</a> had dysmorphic features and hydrocephalus present at birth and also had mild chondrodysplasia calcificans, heart abnormalities, and an abnormal fold of tissue between the laryngeal inlet and the esophagus. Excessive mucopolysacchariduria was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3100114" 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="Soong, B. W., Casamassima, A. C., Fink, J. K., Constantopoulos, G., Horwitz, A. L. <strong>Multiple sulfatase deficiency.</strong> Neurology 38: 1273-1275, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2899861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2899861</a>] [<a href="https://doi.org/10.1212/wnl.38.8.1273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2899861">Soong et al. (1988)</a> described an affected 9.75-year-old girl. They stated that only 20 cases had been described. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2899861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B., Cuevas-Covarrubias, S. A. <strong>Unusual clinical presentation in two cases of multiple sulfatase deficiency.</strong> Pediat. Derm. 18: 388-392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737681</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2001.01959.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11737681">Blanco-Aguirre et al. (2001)</a> reported 2 Mexican brothers with childhood onset of MSD at around age 3 years. After normal development in the first 2 years, both showed neurodegeneration with delayed speech and motor difficulties, including ataxia. Both developed ichthyosis, retinal degeneration, dysmetria, and hyperreflexia of the lower limbs. Examination at ages 22 and 17 years, respectively, showed coarse facies, nystagmus, high-arched palate, mental retardation, and broad thumbs and index fingers, but no organomegaly. Brain imaging showed cerebral and cerebellar atrophy, enlarged ventricles, and periventricular white matter abnormalities. Skeletal survey showed dysostosis multiplex. Laboratory studies showed some residual sulfatase activities, which <a href="#6" class="mim-tip-reference" title="Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B., Cuevas-Covarrubias, S. A. <strong>Unusual clinical presentation in two cases of multiple sulfatase deficiency.</strong> Pediat. Derm. 18: 388-392, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11737681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11737681</a>] [<a href="https://doi.org/10.1046/j.1525-1470.2001.01959.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11737681">Blanco-Aguirre et al. (2001)</a> postulated was responsible for the slow progression and attenuated phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11737681" 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="#29" class="mim-tip-reference" title="Steinmann, B., Mieth, D., Gitzelmann, R. <strong>A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.</strong> Gynec. Obstet. Invest. 12: 107-109, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262633</a>] [<a href="https://doi.org/10.1159/000299574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7262633">Steinmann et al. (1981)</a> reported on a woman who during pregnancy excreted consistently low amounts of urinary estriols for which no apparent reason was found. After birth, the girl was diagnosed as having classic multiple sulfatase deficiency based on the clinical and biochemical features. The authors concluded that absent steroid sulfatase activity was responsible for the low urinary estriol excretion during pregnancy, reported for the first time in this condition, and for ichthyosis appearing soon after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7262633" 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="#18" class="mim-tip-reference" title="Ikeda, H., Kato, M., Matsunaga, A., Shimizu, Y., Katsuura, M., Hayasaka, K. <strong>Multiple sulphatase deficiency and haemophagocytic syndrome.</strong> Europ. J. Pediat. 157: 553-554, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686814</a>] [<a href="https://doi.org/10.1007/s004310050876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686814">Ikeda et al. (1998)</a> described a 3-year-old boy with multiple sulfatase deficiency who had the complication of hemophagocytic syndrome but recovered with conventional therapy. Hemophagocytic syndrome is characterized by fever, pancytopenia, coagulopathy, liver dysfunction, and proliferation of mature histiocytes. <a href="#18" class="mim-tip-reference" title="Ikeda, H., Kato, M., Matsunaga, A., Shimizu, Y., Katsuura, M., Hayasaka, K. <strong>Multiple sulphatase deficiency and haemophagocytic syndrome.</strong> Europ. J. Pediat. 157: 553-554, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9686814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9686814</a>] [<a href="https://doi.org/10.1007/s004310050876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9686814">Ikeda et al. (1998)</a> referred to the occurrence of hemophagocytic syndrome in methylmalonic aciduria (<a href="/entry/251000">251000</a>) and in lysinuric protein intolerance (<a href="/entry/222700">222700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9686814" 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="#21" class="mim-tip-reference" title="Murphy, J. V., Wolfe, H. J., Balazs, E. A., Moser, H. W. <strong>A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans.In: Bernsohn, J.; Grossman, H. J. : Lipid Storage Diseases: Enzymatic Defects and Clinical Implications.</strong> New York: Academic Press (pub.) 1971. Pp. 67-110."None>Murphy et al. (1971)</a> described a case in which the mucopolysaccharides in the liver were thought to consist of both heparan sulfate and dermatan sulfate, as well as showing accumulated cholesterol sulfate.</p><p><a href="#15" class="mim-tip-reference" title="Fluharty, A. L., Stevens, R. L., Davis, L. L., Shapiro, L. J., Kihara, H. <strong>Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.</strong> Am. J. Hum. Genet. 30: 249-255, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27985</a>]" pmid="27985">Fluharty et al. (1978)</a> demonstrated apparently normal arylsulfatase A in cultured fibroblasts under some conditions, indicating that this disorder may be one of regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Horwitz, A. L. <strong>Genetic complementation studies of multiple sulfatase deficiency.</strong> Proc. Nat. Acad. Sci. 76: 6496-6499, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/118467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">118467</a>] [<a href="https://doi.org/10.1073/pnas.76.12.6496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="118467">Horwitz (1979)</a> concluded that the defect probably concerns either a regulatory process for production of sulfatases or a posttranslational modification common to sulfatases. At least 9 sulfatases are known to be deficient (<a href="#4" class="mim-tip-reference" title="Basner, R., von Figura, K., Glossl, J., Klein, U., Kresse, H., Mlekusch, W. <strong>Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.</strong> Pediat. Res. 13: 1316-1318, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/523191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">523191</a>] [<a href="https://doi.org/10.1203/00006450-197912000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="523191">Basner et al., 1979</a>); some are lysosomal, some microsomal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=118467+523191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Fedde, K., Horwitz, A. L. <strong>Complementation of multiple sulfatase deficiency in somatic cell hybrids.</strong> Am. J. Hum. Genet. 36: 623-633, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6731437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6731437</a>]" pmid="6731437">Fedde and Horwitz (1984)</a> listed 7 sulfatases as deficient in MSD. In addition, they identified 2-deoxyglucoside 2-sulfamate sulfatase (heparin-N sulfatase; <a href="https://enzyme.expasy.org/EC/3.1.10.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.10.10</a>), for which an isolated genetically determined deficiency has not been identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6731437" 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="#23" class="mim-tip-reference" title="Rommerskirch, W., von Figura, K. <strong>Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.</strong> Proc. Nat. Acad. Sci. 89: 2561-2565, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348358</a>] [<a href="https://doi.org/10.1073/pnas.89.7.2561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348358">Rommerskirch and von Figura (1992)</a> provided strong evidence that the defect in this disorder indeed involves a posttranslational process common to 7 or more sulfatases. In accordance with this concept, they detected RNAs of normal size and amount in MSD fibroblasts for 3 sulfatases tested. When they introduced cDNAs encoding arylsulfatase A, arylsulfatase B, or steroid sulfatase into MSD fibroblasts and fibroblasts with a single sulfatase deficiency by retroviral gene transfer, they found that infected fibroblasts overexpressed the respective sulfatase polypeptides. Whereas a concomitant increase of sulfatase activities was observed in single sulfatase deficiency fibroblasts, MSD fibroblasts expressed sulfatase polypeptides with a severely diminished catalytic activity. From these results, <a href="#23" class="mim-tip-reference" title="Rommerskirch, W., von Figura, K. <strong>Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.</strong> Proc. Nat. Acad. Sci. 89: 2561-2565, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348358</a>] [<a href="https://doi.org/10.1073/pnas.89.7.2561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348358">Rommerskirch and von Figura (1992)</a> concluded that the mutation in MSD severely decreases the capacity of a posttranslational, or cotranslational, process that renders sulfatases enzymatically active or prevents their premature inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348358" 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="#25" class="mim-tip-reference" title="Schmidt, B., Selmer, T., Ingendoh, A., von Figura, K. <strong>A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.</strong> Cell 82: 271-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628016</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90314-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628016">Schmidt et al. (1995)</a> found from structural analysis of 2 catalytically active sulfatases that a cysteine residue that is predicted from the cDNA sequence and conserved among all known sulfatases is replaced by a 2-amino-3-oxopropionic acid residue, while in sulfatases derived from MSD cells, the cysteine residue is retained. <a href="#25" class="mim-tip-reference" title="Schmidt, B., Selmer, T., Ingendoh, A., von Figura, K. <strong>A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.</strong> Cell 82: 271-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628016</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90314-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628016">Schmidt et al. (1995)</a> proposed that the co- or posttranslational conversion of a cysteine to 2-amino-3-oxopropionic acid is required for generating catalytically active sulfatases and that deficiency of this protein modification is the cause of MSD. The 2 sulfatases that they studied were arylsulfatase A (ARSA; <a href="/entry/607574">607574</a>) and arylsulfatase B (ARSB; <a href="/entry/611542">611542</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628016" 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="#1" class="mim-tip-reference" title="Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., Ficicioglu, C., Finglas A., Gaertner, J., Kirmse, B., Klepper, J., Lee, M., Olsen, A., Parenti, G., Vossough, A., Vanderver, A., Adang, L. A. <strong>Complex care of individuals with multiple sulfatase deficiency: clinical cases and consensus statement.</strong> Molec. Genet. Metab. 123: 337-346, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29397290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29397290</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29397290[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.01.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29397290">Ahrens-Nicklas et al. (2018)</a> proposed a multisystem approach to the care of patients with multiple sulfatase deficiency, with specialist care for the major organ systems involved. Recommendations included spine imaging for signs of cervical spine instability and referral to neurosurgery as necessary, hip imaging for hip dysplasia, and monitoring for scoliosis; assessment and management for respiratory issues including obstructive or restrictive lung disease, central or obstructive apnea, and tracheomalacia; ophthalmologic evaluation for issues including glaucoma, corneal clouding, and retinitis pigmentosa; hearing testing; attention to gastrointestinal issues and nutritional status with assessment for safe feeding and tube feeding as needed, and regular screening of the gallbladder by ultrasound or CT; regular electrocardiograms and echocardiograms; ongoing neurologic care for issues such as peripheral neuropathy, hydrocephalus, and seizures; and urgent brain imaging for acute neurologic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29397290" 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>Multiple sulfatase deficiency is an autosomal recessive disorder. <a href="#20" class="mim-tip-reference" title="Mossakowski, M., Mathieson, G., Cumings, J. N. <strong>On the relationship of metachromatic leucodystrophy and amaurotic idiocy.</strong> Brain 84: 585-604, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14476546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14476546</a>] [<a href="https://doi.org/10.1093/brain/84.4.585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14476546">Mossakowski et al. (1961)</a> observed 3 affected sibs, 2 female and 1 male, in a French Canadian family. The 2 patients reported by <a href="#2" class="mim-tip-reference" title="Austin, J. H. <strong>Metachromatic leukodystrophy. In: Carter, C. C.: Medical Aspects of Mental Retardation.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1965. P. 768."None>Austin (1965)</a> were sibs (in the M family). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14476546" 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="#12" class="mim-tip-reference" title="Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J., Preusser, A., Mariappan, M., von Figura, K. <strong>Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme.</strong> Cell 113: 435-444, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757705</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757705">Dierks et al. (2003)</a> and <a href="#11" class="mim-tip-reference" title="Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A. <strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong> Cell 113: 445-456, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12757706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12757706</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12757706">Cosma et al. (2003)</a> identified homozygous or compound heterozygous mutations in the SUMF1 gene in patients with MSD (see, e.g., <a href="/entry/607939#0001">607939.0001</a>-<a href="/entry/607939#0010">607939.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12757705+12757706" 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="#24" class="mim-tip-reference" title="Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J. <strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong> Europ. J. Hum. Genet. 19: 253-261, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21224894">Schlotawa et al. (2011)</a> observed clear genotype/phenotype correlations among 10 patients with MSD, including 1 with neonatal onset, 7 with severe late-infantile onset, and 2 with mild late-infantile onset. The most severely affected patient with neonatal onset had marked impairments in both SUMF1 stability and enzyme activity and was compound heterozygous for a splice site and a nonsense mutation (<a href="/entry/607939#0001">607939.0001</a> and <a href="/entry/607939#0003">607939.0003</a>, respectively). Sulfatase activities in this patient were almost undetectable. In contrast, 2 patients with mild late-infantile onset were homozygous for a missense mutation (G263V; <a href="/entry/607939#0018">607939.0018</a>), which showed the highest residual enzymatic activity among the studied variants. Patients with the intermediate severe late-infantile form had mutations that compromised stability and caused low levels of residual activity (see, e.g., S155P; <a href="/entry/607939#0010">607939.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" 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="#26" class="mim-tip-reference" title="Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A. <strong>Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.</strong> Proc. Nat. Acad. Sci. 104: 4506-4511, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0700382104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17360554">Settembre et al. (2007)</a> found that Sumf1-null mice displayed early mortality, congenital growth retardation, skeletal abnormalities, and neurologic deficits, similar to human patients with MSD. Massive lysosomal storage of glycosaminoglycans was observed in all tissues examined and was associated with systemic inflammation, apoptosis, and neurodegeneration. Sumf1-null mice completely lacked all sulfatase activities, indicating that mammals have a single sulfatase modification system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360554" 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 brain tissue of MSD mice, <a href="#27" class="mim-tip-reference" title="Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., Medina, D., de Pablo, R., Tacchetti, C., Rubinsztein, D. C., Ballabio, A. <strong>A block of autophagy in lysosomal storage disorders.</strong> Hum. Molec. Genet. 17: 119-129, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17913701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17913701</a>] [<a href="https://doi.org/10.1093/hmg/ddm289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17913701">Settembre et al. (2008)</a> observed increased autophagosomes resulting from impaired autophagosome-lysosome fusion. Cells showed impaired ability to degrade aggregation-prone proteins. There was also an accumulation of ubiquitin-positive inclusions and increased numbers of dysfunctional mitochondria. Similar findings were observed in a mouse model of another lysosomal storage disorder, MPS IIIA (<a href="/entry/252900">252900</a>). The findings were consistent with these diseases being disorders of autophagy, which may be a common mechanism in neurodegenerative lysosomal storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17913701" 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="#Ballabio1985" class="mim-tip-reference" title="Ballabio, A., Parenti, G., Napolitano, E., Di Natale, P., Andria, G. <strong>Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.</strong> Hum. Genet. 70: 315-317, 1985.">Ballabio et al. (1985)</a>; <a href="#Bischel1966" class="mim-tip-reference" title="Bischel, M., Austin, J., Kemeny, M. <strong>Metachromatic leukodystrophy (MLD). VII. Elevated sulfate acid polysaccharide levels in urine and postmortem tissue.</strong> Arch. Neurol. 15: 13-28, 1966.">Bischel et al. (1966)</a>; <a href="#Chang1983" class="mim-tip-reference" title="Chang, P. L., Rosa, N. E., Ballantyne, S. R., Davidson, R. G. <strong>Biochemical variability of arylsulphatases-A,-B and-C in cultured fibroblasts from patients with multiple sulphatase deficiency.</strong> J. Inherit. Metab. Dis. 6: 167-172, 1983.">Chang et al. (1983)</a>; <a href="#Eto1979" class="mim-tip-reference" title="Eto, Y., Numaguchi, S., Handa, T. <strong>Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).</strong> Europ. J. Pediat. 132: 207-211, 1979.">Eto et al. (1979)</a>; <a href="#Fluharty1979" class="mim-tip-reference" title="Fluharty, A. L., Stevens, R. L., de la Flar, S. D., Shapiro, L. J., Kihara, H. <strong>Arylsulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.</strong> Am. J. Hum. Genet. 31: 574-580, 1979.">Fluharty et al. (1979)</a>; <a href="#Thieffry1967" class="mim-tip-reference" title="Thieffry, S., Lyon, G., Maroteaux, P. <strong>Encephalopathie metabolique associant une mucopolysaccharidose et une sulfatidose.</strong> Arch. Franc. Pediat. 24: 425-432, 1967.">Thieffry et al. (1967)</a>
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Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., Ficicioglu, C., Finglas A., Gaertner, J., Kirmse, B., Klepper, J., Lee, M., Olsen, A., Parenti, G., Vossough, A., Vanderver, A., Adang, L. A.
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<strong>Complex care of individuals with multiple sulfatase deficiency: clinical cases and consensus statement.</strong>
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Molec. Genet. Metab. 123: 337-346, 2018.
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[<a href="https://doi.org/10.1016/j.ymgme.2018.01.005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00295367" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197912000-00002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1966.00470130017002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1525-1470.2001.01959.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb01899.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)80550-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02310875" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00348-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00347-7" target="_blank">Full Text</a>]
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<a id="Eto1979" class="mim-anchor"></a>
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<strong>Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).</strong>
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[<a href="https://doi.org/10.1007/BF00442437" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Fedde1984" class="mim-anchor"></a>
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<strong>Complementation of multiple sulfatase deficiency in somatic cell hybrids.</strong>
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<a id="Fluharty1978" class="mim-anchor"></a>
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<strong>Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.</strong>
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<a id="16" class="mim-anchor"></a>
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<a id="Fluharty1979" class="mim-anchor"></a>
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<div class="">
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<strong>Arylsulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.</strong>
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Am. J. Hum. Genet. 31: 574-580, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/41450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">41450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=41450" 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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<a id="17" class="mim-anchor"></a>
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<a id="Horwitz1979" class="mim-anchor"></a>
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<div class="">
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<strong>Genetic complementation studies of multiple sulfatase deficiency.</strong>
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[<a href="https://doi.org/10.1073/pnas.76.12.6496" target="_blank">Full Text</a>]
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<a id="Ikeda1998" class="mim-anchor"></a>
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<strong>Multiple sulphatase deficiency and haemophagocytic syndrome.</strong>
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[<a href="https://doi.org/10.1007/s004310050876" target="_blank">Full Text</a>]
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<a id="Kihara1982" class="mim-anchor"></a>
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<a id="20" class="mim-anchor"></a>
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<p class="mim-text-font">
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Mossakowski, M., Mathieson, G., Cumings, J. N.
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|
<strong>On the relationship of metachromatic leucodystrophy and amaurotic idiocy.</strong>
|
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Brain 84: 585-604, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14476546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14476546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14476546" 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/10.1093/brain/84.4.585" target="_blank">Full Text</a>]
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</p>
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<a id="21" class="mim-anchor"></a>
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<a id="Murphy1971" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Murphy, J. V., Wolfe, H. J., Balazs, E. A., Moser, H. W.
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|
<strong>A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans.In: Bernsohn, J.; Grossman, H. J. : Lipid Storage Diseases: Enzymatic Defects and Clinical Implications.</strong>
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New York: Academic Press (pub.) 1971. Pp. 67-110.
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</p>
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<a id="22" class="mim-anchor"></a>
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<a id="Rampini1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rampini, S., Isler, W., Baerlocher, K., Bischoff, A., Ulrich, J. A., Pluss, H. J.
|
|
<strong>Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstaendiges Krankheitsbild (Mukosulfatidose).</strong>
|
|
Helv. Paediat. Acta 25: 436-461, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4250178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4250178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4250178" 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="23" class="mim-anchor"></a>
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<a id="Rommerskirch1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rommerskirch, W., von Figura, K.
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<strong>Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 2561-2565, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348358" 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/10.1073/pnas.89.7.2561" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Schlotawa2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J.
|
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<strong>SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.</strong>
|
|
Europ. J. Hum. Genet. 19: 253-261, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21224894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21224894</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21224894[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21224894" 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/ejhg.2010.219" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Schmidt1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmidt, B., Selmer, T., Ingendoh, A., von Figura, K.
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<strong>A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.</strong>
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Cell 82: 271-278, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628016" 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/10.1016/0092-8674(95)90314-3" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Settembre2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A.
|
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<strong>Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.</strong>
|
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Proc. Nat. Acad. Sci. 104: 4506-4511, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17360554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17360554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17360554[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17360554" 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/10.1073/pnas.0700382104" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Settembre2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., Medina, D., de Pablo, R., Tacchetti, C., Rubinsztein, D. C., Ballabio, A.
|
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<strong>A block of autophagy in lysosomal storage disorders.</strong>
|
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Hum. Molec. Genet. 17: 119-129, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17913701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17913701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17913701" 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/10.1093/hmg/ddm289" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Soong1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Soong, B. W., Casamassima, A. C., Fink, J. K., Constantopoulos, G., Horwitz, A. L.
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<strong>Multiple sulfatase deficiency.</strong>
|
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Neurology 38: 1273-1275, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2899861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2899861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2899861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.38.8.1273" target="_blank">Full Text</a>]
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Steinmann1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinmann, B., Mieth, D., Gitzelmann, R.
|
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<strong>A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.</strong>
|
|
Gynec. Obstet. Invest. 12: 107-109, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7262633" 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/10.1159/000299574" target="_blank">Full Text</a>]
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Thieffry1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thieffry, S., Lyon, G., Maroteaux, P.
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<strong>Encephalopathie metabolique associant une mucopolysaccharidose et une sulfatidose.</strong>
|
|
Arch. Franc. Pediat. 24: 425-432, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4229601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4229601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4229601" 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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</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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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Hilary J. Vernon - updated : 05/22/2020
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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 : 7/7/2011<br>Cassandra L. Kniffin - updated : 9/14/2009<br>Stylianos E. Antonarakis - updated : 7/3/2003<br>Victor A. McKusick - updated : 11/10/1998<br>Beat Steinmann - updated : 11/11/1996
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</span>
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</div>
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</div>
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<div>
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<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 : 6/4/1986
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</span>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/18/2025
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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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carol : 05/22/2020<br>wwang : 07/21/2011<br>ckniffin : 7/7/2011<br>terry : 5/12/2010<br>wwang : 10/6/2009<br>ckniffin : 9/14/2009<br>carol : 10/23/2007<br>terry : 4/21/2005<br>tkritzer : 9/17/2003<br>mgross : 7/3/2003<br>ckniffin : 2/28/2003<br>carol : 11/17/1998<br>terry : 11/10/1998<br>carol : 11/13/1996<br>joanna : 11/11/1996<br>mark : 11/6/1995<br>terry : 4/29/1994<br>mimadm : 4/14/1994<br>warfield : 3/10/1994<br>carol : 5/22/1992<br>supermim : 3/17/1992
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 272200
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MULTIPLE SULFATASE DEFICIENCY; MSD
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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MUCOSULFATIDOSIS<br />
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SULFATIDOSIS, JUVENILE, AUSTIN TYPE
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</span>
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</h4>
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<div>
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<br />
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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> 54898003;
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<strong>ICD10CM:</strong> E75.26;
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<strong>ORPHA:</strong> 585;
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<strong>DO:</strong> 0050441;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3p26.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Multiple sulfatase deficiency
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</td>
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<td>
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<span class="mim-font">
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272200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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SUMF1
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</span>
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</td>
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<td>
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<span class="mim-font">
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607939
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</span>
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</tr>
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</tbody>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because multiple sulfatase deficiency (MSD) is caused by homozygous or compound heterozygous mutation in the sulfatase-modifying factor-1 gene (SUMF1; 607939) on chromosome 3p26.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Multiple sulfatase deficiency (MSD) is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with impaired intellectual development, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (Blanco-Aguirre et al., 2001) (summary by Schlotawa et al., 2011). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The clinical features of multiple sulfatase deficiency are an interesting composite of those seen with deficiency of the individual sulfatases. Kihara (1982) pointed out that multiple sulfatase deficiency combines the enzyme deficiency and phenotypic features of at least six entities: metachromatic leukodystrophy (250100), Maroteaux-Lamy syndrome (253200), X-linked ichthyosis (308100), Hunter syndrome (309900), Sanfilippo A syndrome (252900), and Morquio syndrome (253000). </p><p>Mossakowski et al. (1961) reported 3 affected sibs, and Austin (1965) reported 2 affected sibs. Rampini et al. (1970) reported 3 cases. </p><p>Some patients initially suspected of having Hunter syndrome may have multiple sulfatase deficiency in which deficiency of iduronate sulfatase dominates. Burk et al. (1981, 1984) reported 2 cases that had been mistakenly diagnosed as Hunter syndrome. In both, developmental delay dated from birth. Increased urinary mucopolysaccharides had a pattern different from that in mucopolysaccharidosis (heparan sulfate 39%, dermatan sulfate 21%, chondroitin sulfate C 40%). Abnormally broad great toes were found in both, and ichthyosis developed at an early age. Limitation in extension at the elbows and radiologic changes of dysostosis multiplex were suggestive of a mucopolysaccharidosis. The defect in this disorder may be similar to that in combined beta-galactosidase/neuraminidase deficiency; the defect may reside in a molecule necessary to protect the multiple sulfatases against excessive intralysosomal degradation and to assure their full hydrolytic capacity. If this is the explanation, then the activity of the molecule must not be limited to the intralysosomal site: 6 of the enzymes are lysosomal, whereas steroid sulfatase is microsomal. </p><p>Burch et al. (1986) described a neonatal case of multiple sulfatase deficiency. In most reported cases the clinical phenotype resembles late infantile metachromatic leukodystrophy at presentation, but patients later develop ichthyosis and features of a mucopolysaccharidosis. The patient reported by Burch et al. (1986) had dysmorphic features and hydrocephalus present at birth and also had mild chondrodysplasia calcificans, heart abnormalities, and an abnormal fold of tissue between the laryngeal inlet and the esophagus. Excessive mucopolysacchariduria was present. </p><p>Soong et al. (1988) described an affected 9.75-year-old girl. They stated that only 20 cases had been described. </p><p>Blanco-Aguirre et al. (2001) reported 2 Mexican brothers with childhood onset of MSD at around age 3 years. After normal development in the first 2 years, both showed neurodegeneration with delayed speech and motor difficulties, including ataxia. Both developed ichthyosis, retinal degeneration, dysmetria, and hyperreflexia of the lower limbs. Examination at ages 22 and 17 years, respectively, showed coarse facies, nystagmus, high-arched palate, mental retardation, and broad thumbs and index fingers, but no organomegaly. Brain imaging showed cerebral and cerebellar atrophy, enlarged ventricles, and periventricular white matter abnormalities. Skeletal survey showed dysostosis multiplex. Laboratory studies showed some residual sulfatase activities, which Blanco-Aguirre et al. (2001) postulated was responsible for the slow progression and attenuated phenotype. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Steinmann et al. (1981) reported on a woman who during pregnancy excreted consistently low amounts of urinary estriols for which no apparent reason was found. After birth, the girl was diagnosed as having classic multiple sulfatase deficiency based on the clinical and biochemical features. The authors concluded that absent steroid sulfatase activity was responsible for the low urinary estriol excretion during pregnancy, reported for the first time in this condition, and for ichthyosis appearing soon after birth. </p><p>Ikeda et al. (1998) described a 3-year-old boy with multiple sulfatase deficiency who had the complication of hemophagocytic syndrome but recovered with conventional therapy. Hemophagocytic syndrome is characterized by fever, pancytopenia, coagulopathy, liver dysfunction, and proliferation of mature histiocytes. Ikeda et al. (1998) referred to the occurrence of hemophagocytic syndrome in methylmalonic aciduria (251000) and in lysinuric protein intolerance (222700). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Murphy et al. (1971) described a case in which the mucopolysaccharides in the liver were thought to consist of both heparan sulfate and dermatan sulfate, as well as showing accumulated cholesterol sulfate.</p><p>Fluharty et al. (1978) demonstrated apparently normal arylsulfatase A in cultured fibroblasts under some conditions, indicating that this disorder may be one of regulation. </p><p>Horwitz (1979) concluded that the defect probably concerns either a regulatory process for production of sulfatases or a posttranslational modification common to sulfatases. At least 9 sulfatases are known to be deficient (Basner et al., 1979); some are lysosomal, some microsomal. </p><p>Fedde and Horwitz (1984) listed 7 sulfatases as deficient in MSD. In addition, they identified 2-deoxyglucoside 2-sulfamate sulfatase (heparin-N sulfatase; EC 3.1.10.10), for which an isolated genetically determined deficiency has not been identified. </p><p>Rommerskirch and von Figura (1992) provided strong evidence that the defect in this disorder indeed involves a posttranslational process common to 7 or more sulfatases. In accordance with this concept, they detected RNAs of normal size and amount in MSD fibroblasts for 3 sulfatases tested. When they introduced cDNAs encoding arylsulfatase A, arylsulfatase B, or steroid sulfatase into MSD fibroblasts and fibroblasts with a single sulfatase deficiency by retroviral gene transfer, they found that infected fibroblasts overexpressed the respective sulfatase polypeptides. Whereas a concomitant increase of sulfatase activities was observed in single sulfatase deficiency fibroblasts, MSD fibroblasts expressed sulfatase polypeptides with a severely diminished catalytic activity. From these results, Rommerskirch and von Figura (1992) concluded that the mutation in MSD severely decreases the capacity of a posttranslational, or cotranslational, process that renders sulfatases enzymatically active or prevents their premature inactivation. </p><p>Schmidt et al. (1995) found from structural analysis of 2 catalytically active sulfatases that a cysteine residue that is predicted from the cDNA sequence and conserved among all known sulfatases is replaced by a 2-amino-3-oxopropionic acid residue, while in sulfatases derived from MSD cells, the cysteine residue is retained. Schmidt et al. (1995) proposed that the co- or posttranslational conversion of a cysteine to 2-amino-3-oxopropionic acid is required for generating catalytically active sulfatases and that deficiency of this protein modification is the cause of MSD. The 2 sulfatases that they studied were arylsulfatase A (ARSA; 607574) and arylsulfatase B (ARSB; 611542). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ahrens-Nicklas et al. (2018) proposed a multisystem approach to the care of patients with multiple sulfatase deficiency, with specialist care for the major organ systems involved. Recommendations included spine imaging for signs of cervical spine instability and referral to neurosurgery as necessary, hip imaging for hip dysplasia, and monitoring for scoliosis; assessment and management for respiratory issues including obstructive or restrictive lung disease, central or obstructive apnea, and tracheomalacia; ophthalmologic evaluation for issues including glaucoma, corneal clouding, and retinitis pigmentosa; hearing testing; attention to gastrointestinal issues and nutritional status with assessment for safe feeding and tube feeding as needed, and regular screening of the gallbladder by ultrasound or CT; regular electrocardiograms and echocardiograms; ongoing neurologic care for issues such as peripheral neuropathy, hydrocephalus, and seizures; and urgent brain imaging for acute neurologic changes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Multiple sulfatase deficiency is an autosomal recessive disorder. Mossakowski et al. (1961) observed 3 affected sibs, 2 female and 1 male, in a French Canadian family. The 2 patients reported by Austin (1965) were sibs (in the M family). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dierks et al. (2003) and Cosma et al. (2003) identified homozygous or compound heterozygous mutations in the SUMF1 gene in patients with MSD (see, e.g., 607939.0001-607939.0010). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schlotawa et al. (2011) observed clear genotype/phenotype correlations among 10 patients with MSD, including 1 with neonatal onset, 7 with severe late-infantile onset, and 2 with mild late-infantile onset. The most severely affected patient with neonatal onset had marked impairments in both SUMF1 stability and enzyme activity and was compound heterozygous for a splice site and a nonsense mutation (607939.0001 and 607939.0003, respectively). Sulfatase activities in this patient were almost undetectable. In contrast, 2 patients with mild late-infantile onset were homozygous for a missense mutation (G263V; 607939.0018), which showed the highest residual enzymatic activity among the studied variants. Patients with the intermediate severe late-infantile form had mutations that compromised stability and caused low levels of residual activity (see, e.g., S155P; 607939.0010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Settembre et al. (2007) found that Sumf1-null mice displayed early mortality, congenital growth retardation, skeletal abnormalities, and neurologic deficits, similar to human patients with MSD. Massive lysosomal storage of glycosaminoglycans was observed in all tissues examined and was associated with systemic inflammation, apoptosis, and neurodegeneration. Sumf1-null mice completely lacked all sulfatase activities, indicating that mammals have a single sulfatase modification system. </p><p>In brain tissue of MSD mice, Settembre et al. (2008) observed increased autophagosomes resulting from impaired autophagosome-lysosome fusion. Cells showed impaired ability to degrade aggregation-prone proteins. There was also an accumulation of ubiquitin-positive inclusions and increased numbers of dysfunctional mitochondria. Similar findings were observed in a mouse model of another lysosomal storage disorder, MPS IIIA (252900). The findings were consistent with these diseases being disorders of autophagy, which may be a common mechanism in neurodegenerative lysosomal storage diseases. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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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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Ballabio et al. (1985); Bischel et al. (1966); Chang et al. (1983);
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Eto et al. (1979); Fluharty et al. (1979); Thieffry et al. (1967)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., Ficicioglu, C., Finglas A., Gaertner, J., Kirmse, B., Klepper, J., Lee, M., Olsen, A., Parenti, G., Vossough, A., Vanderver, A., Adang, L. A.
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<strong>Complex care of individuals with multiple sulfatase deficiency: clinical cases and consensus statement.</strong>
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Molec. Genet. Metab. 123: 337-346, 2018.
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[PubMed: 29397290]
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[Full Text: https://doi.org/10.1016/j.ymgme.2018.01.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Austin, J. H.
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<strong>Metachromatic leukodystrophy. In: Carter, C. C.: Medical Aspects of Mental Retardation.</strong>
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Springfield, Ill.: Charles C Thomas (pub.) 1965. P. 768.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ballabio, A., Parenti, G., Napolitano, E., Di Natale, P., Andria, G.
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<strong>Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.</strong>
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Hum. Genet. 70: 315-317, 1985.
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[PubMed: 3860470]
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[Full Text: https://doi.org/10.1007/BF00295367]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Basner, R., von Figura, K., Glossl, J., Klein, U., Kresse, H., Mlekusch, W.
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<strong>Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.</strong>
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Pediat. Res. 13: 1316-1318, 1979.
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[PubMed: 523191]
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[Full Text: https://doi.org/10.1203/00006450-197912000-00002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bischel, M., Austin, J., Kemeny, M.
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<strong>Metachromatic leukodystrophy (MLD). VII. Elevated sulfate acid polysaccharide levels in urine and postmortem tissue.</strong>
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Arch. Neurol. 15: 13-28, 1966.
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[PubMed: 5937494]
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[Full Text: https://doi.org/10.1001/archneur.1966.00470130017002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B., Cuevas-Covarrubias, S. A.
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<strong>Unusual clinical presentation in two cases of multiple sulfatase deficiency.</strong>
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Pediat. Derm. 18: 388-392, 2001.
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[PubMed: 11737681]
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[Full Text: https://doi.org/10.1046/j.1525-1470.2001.01959.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burch, M., Fensom, A. H., Jackson, M., Pitts-Tucker, T., Congdon, P. J.
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<strong>Multiple sulphatase deficiency presenting at birth.</strong>
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Clin. Genet. 30: 409-415, 1986.
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[PubMed: 3100114]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb01899.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burk, R. D., Valle, D., Thomas, G. H., Miller, C., Moser, A., Moser, H., Rosenbaum, K. N.
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<strong>Early manifestations of multiple sulfatase deficiency.</strong>
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J. Pediat. 104: 574-578, 1984.
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[PubMed: 6142938]
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[Full Text: https://doi.org/10.1016/s0022-3476(84)80550-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burk, R., Valle, D., Thomas, G., Moser, A., Moser, H., Rosenbaum, K., Schmid, K.
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<strong>Multiple sulfatase deficiency (MSD): clinical and biochemical studies in two patients. (Abstract)</strong>
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Am. J. Hum. Genet. 33: 73A only, 1981.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chang, P. L., Rosa, N. E., Ballantyne, S. R., Davidson, R. G.
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<strong>Biochemical variability of arylsulphatases-A,-B and-C in cultured fibroblasts from patients with multiple sulphatase deficiency.</strong>
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J. Inherit. Metab. Dis. 6: 167-172, 1983.
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[PubMed: 6142143]
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[Full Text: https://doi.org/10.1007/BF02310875]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cosma, M. P., Pepe, S., Annunziata, I., Newbold, R. F., Grompe, M., Parenti, G., Ballabio, A.
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<strong>The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.</strong>
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Cell 113: 445-456, 2003.
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[PubMed: 12757706]
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[Full Text: https://doi.org/10.1016/s0092-8674(03)00348-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Murphy, J. V., Wolfe, H. J., Balazs, E. A., Moser, H. W.
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<strong>A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans.In: Bernsohn, J.; Grossman, H. J. : Lipid Storage Diseases: Enzymatic Defects and Clinical Implications.</strong>
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<strong>Die Kombination von metachromatischer Leukodystrophie und Mukopolysaccharidose als selbstaendiges Krankheitsbild (Mukosulfatidose).</strong>
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<strong>Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.</strong>
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Schlotawa, L., Ennemann, E. C., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H.-J., Moser, H., Steinmann, B., Dierks, T., Gartner, J.
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Schmidt, B., Selmer, T., Ingendoh, A., von Figura, K.
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<strong>A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.</strong>
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Settembre, C., Annunziata, I., Spampanato, C., Zarcone, D., Cobellis, G., Nusco, E., Zito, E., Tacchetti, C., Cosma, M. P., Ballabio, A.
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Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C., Medina, D., de Pablo, R., Tacchetti, C., Rubinsztein, D. C., Ballabio, A.
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Steinmann, B., Mieth, D., Gitzelmann, R.
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<strong>A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.</strong>
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<strong>Encephalopathie metabolique associant une mucopolysaccharidose et une sulfatidose.</strong>
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