3246 lines
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Entry
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- #604369 - SALLA DISEASE; SD
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- OMIM
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<span class="h4">#604369</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/604369"><strong>Clinical Synopsis</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="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SALLA DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21373&Typ=Pat" title="Intermediate severe Salla disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Intermediate severe Salla … </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21374&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Salla disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=578&Typ=Pat" title="Free sialic acid storage disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Free sialic acid storage d… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1470/" 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/6400" 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/free-sialic-acid-storage-disorder" 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=604369[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
|
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309331" title="Intermediate severe Salla disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Intermediate severe Salla …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Salla disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=834" title="Free sialic acid storage disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Free sialic acid storage d…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/ea16eeb4-c2db-4583-b50d-24cee1f96155/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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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<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:3659" 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/604369" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:3659" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel 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:604369" 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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<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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</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> 87074006<br />
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<strong>ORPHA:</strong> 309331, 309334, 834<br />
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<strong>DO:</strong> 3659<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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604369
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SALLA DISEASE; SD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SIALURIA, FINNISH 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>
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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 table-hover 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>
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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/6/648?start=-3&limit=10&highlight=648">
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6q13
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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">
|
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Salla disease
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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/604369"> 604369 </a>
|
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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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|
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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">
|
|
SLC17A5
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604322"> 604322 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/604369" 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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|
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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/604369" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604369" 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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|
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<div>
|
|
<p />
|
|
</div>
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<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>
|
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|
|
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|
|
<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">
|
|
|
|
- Height 2 S.D. below expected height <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858451</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Exotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399252000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399252000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399054005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399054005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thick calvaria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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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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Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</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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Athetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58593005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58593005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44913001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44913001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004158</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span><br /> -
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Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Dyspraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68345001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68345001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6950007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6950007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R48.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R48.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002186</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Inability to walk <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282145008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282145008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560046</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002540</a>]</span><br />
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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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- Increased urinary free sialic acid excretion (N-acetylneuraminic acid, 5-20x normal) Enlarged lysosomal vacuoles in lymphocytes and fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858453</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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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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- Allelic to infantile sialic acid storage disorder (<a href="/entry/269920">269920</a>)<br /> -
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Normal in neonatal period<br /> -
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Onset at 6-9 months<br /> -
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Increased frequency in Finland<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, <a href="/entry/604322#0001">604322.0001</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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<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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<p>A number sign (#) is used with this entry because of evidence that Salla disease (SD) is caused by homozygous or compound heterozygous mutation in the SLC17A5 gene (<a href="/entry/604322">604322</a>) on chromosome 6q13.</p><p>Infantile sialic storage disease (ISSD; <a href="/entry/269920">269920</a>) is an allelic disorder.</p>
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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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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and impaired intellectual development; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (<a href="#21" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" 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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<p>Salla disease is an adult form of sialuria, also called sialic acid storage disease, that has been found particularly in residents of an area of Finland. In a northeastern part of Finland, <a href="#1" class="mim-tip-reference" title="Aula, P., Autio, S., Raivio, K. O., Rapola, J., Thoden, C.-J., Koskela, S.-L., Yamashina, I. <strong>'Salla disease': a new lysosomal storage disorder.</strong> Arch. Neurol. 36: 88-94, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/420628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">420628</a>] [<a href="https://doi.org/10.1001/archneur.1979.00500380058006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="420628">Aula et al. (1979)</a> observed Salla disease in 4 adults in 2 sibships related as second cousins. In addition, 27 possible cases in 10 sibships were known. Features are mental retardation, clumsiness, onset at 12 to 18 months of age with deterioration in the second decade, 4 to 15% vacuolated lymphocytes, enlarged storage lysosomes, and increased sialic acid in the urine. The disease was named for the geographic area where the kindred lived. Urinary excretion of mucopolysaccharides, amino acids, glycoasparagines, and oligosaccharides was normal. Three brothers were affected in 1 sibship, as well as a female third cousin of theirs. The disorder was first detected during a survey for aspartylglucosaminuria, in a search for cytoplasmic vacuoles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=420628" 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>Using both clinical and laboratory methods in an examination of mentally retarded patients mainly in northern Finland, <a href="#13" class="mim-tip-reference" title="Renlund, M., Aula, P., Raivio, K. O., Autio, S., Sainio, K., Rapola, J., Koskela, S.-L. <strong>Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.</strong> Neurology 33: 57-66, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6681560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6681560</a>] [<a href="https://doi.org/10.1212/wnl.33.1.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6681560">Renlund et al. (1983)</a> identified 34 patients who satisfied the following criteria for Salla disease: progressive psychomotor retardation of early onset, lysosomal storage, and increased urinary excretion of free sialic acid (N-acetylneuraminic acid; NeuAc). The patients showed ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvaria, and exotropia were present in about half the patients. Progressive diminution in the amplitude of the EEG was noted. Life span appeared to be normal; patients ranged from 3 to 63 years in age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6681560" 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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<div class="mim-changed mim-change"><p>No precisely similar patients with urinary excretion of free sialic acid had, it seemed, been reported outside Finland. However, <a href="#8" class="mim-tip-reference" title="Hancock, L. W., Thaler, M. M., Horwitz, A. L., Dawson, G. <strong>Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.</strong> J. Neurochem. 38: 803-809, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7057193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7057193</a>] [<a href="https://doi.org/10.1111/j.1471-4159.1982.tb08701.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7057193">Hancock et al. (1982)</a> reported a patient with extensive accumulation of free NeuAc in tissues and abnormal storage lysosomes who pursued a fulminant clinical course ending in death at 5 months of age. The amount of free sialic acid in the urine was about 20 times higher than the 15- to 30-fold increase in Salla patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7057193" 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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<p><a href="#22" class="mim-tip-reference" title="Wolburg-Buchholz, K., Schlote, W., Baumkotter, J., Cantz, M., Holder, H., Harzer, K. <strong>Familial lysosomal storage disease with generalized vacuolization and sialic aciduria: sporadic Salla disease.</strong> Neuropediatrics 16: 67-75, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010893</a>] [<a href="https://doi.org/10.1055/s-2008-1052546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4010893">Wolburg-Buchholz et al. (1985)</a> reported 3 affected sibs in a sibship of 8. One affected girl died at 8 years and another at age 17. A 9-year-old boy was alive with severe psychomotor retardation with spastic tetraparesis and convulsions. Microscopic studies including ultrastructural examinations showed lysosomal vacuolization in mesenchymal and parenchymal cells. Increased amounts of free sialic acid in the urine and sialic acid storage in cultured fibroblasts were consistent with Salla disease. The family had no known Finnish ancestry. <a href="#4" class="mim-tip-reference" title="Echenne, B., Vidal, M., Maire, I., Michalski, J. C., Baldet, P., Astruc, J. <strong>Salla disease in one non-Finnish patient.</strong> Europ. J. Pediat. 145: 320-322, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770005</a>] [<a href="https://doi.org/10.1007/BF00439413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3770005">Echenne et al. (1986)</a> described the case of a 5-year-old boy from southern France. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3770005+4010893" 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="#2" class="mim-tip-reference" title="Baumkotter, J., Cantz, M., Mendla, K., Baumann, W., Friebolin, H., Gehler, J., Spranger, J. <strong>N-acetylneuraminic acid storage disease.</strong> Hum. Genet. 71: 155-159, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043964</a>] [<a href="https://doi.org/10.1007/BF00283373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4043964">Baumkotter et al. (1985)</a> reported a patient with early-onset sialic acid storage disease whose early clinical course was similar to that of Salla disease but who had clinical and skeletal abnormalities not mentioned in that disorder. In 3 patients with different forms of NANA storage disease, accumulation of free NANA in the lysosomes was found in cultured fibroblasts, suggesting a transport defect (<a href="#11" class="mim-tip-reference" title="Mancini, G. M. S., Verheijen, F. W., Galjaard, H. <strong>Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.</strong> Hum. Genet. 73: 214-217, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3733077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3733077</a>] [<a href="https://doi.org/10.1007/BF00401229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3733077">Mancini et al., 1986</a>). One of the samples came from a patient with Salla disease, a second came from an infant with the severe form of NSD, and the third came from a child with a milder infantile form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4043964+3733077" 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="#6" class="mim-tip-reference" title="Haataja, L., Schleutker, J., Laine, A.-P., Renlund, M., Savontaus, M.-L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P. <strong>The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.</strong> Am. J. Hum. Genet. 54: 1042-1049, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198127</a>]" pmid="8198127">Haataja et al. (1994)</a> described 4 patients with an unusually severe form of Salla disease, more severe than those of 86 other Finnish patients. Hypotonia and developmental delay were first noted between 2 and 4 months of age. The patients were living, with ages ranging from 11 to 24, but were severely mentally retarded, either not responsive to the environment or responding only with facial gestures. All of them suffered from generalized tonic-clonic seizures, unlike the typical absence-like epilepsy in usual Salla disease. Magnetic resonance imaging (MRI) of the severely affected individuals demonstrated abnormally high signal intensity of subcortical white matter with sparing of the U fibers. There was no abnormality of basal ganglia. In these 4 severe cases and more typical cases, there were similar white matter changes in the thin string-like corpus callosum. Cerebellar atrophy was noted in the severely affected individuals but was not apparent on the scans of patients with typical Salla disease. In all these patients the MRI resembled the myelination pattern of a several-month-old infant. Linkage and haplotype analysis did not distinguish these 4 patients with the unusually severe course from the other Finnish patients with typical Salla disease. The authors raised the possibility of homoallelic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198127" 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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<div class="mim-changed mim-change"><p><a href="#19" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> reported a 16-year-old patient who presented at 16 months of age with developmental delay and dysmorphic features, including a broad nasal bridge, anteverted nares, and periorbital edema. Laboratory testing at that time demonstrated a mild elevation of oligosaccharides. At 3 years of age, she had brittle teeth, obstructive sleep apnea, recurrent ear infections, and thoracolumbar scoliosis. She also had an echocardiogram which showed a thick and deformed aortic valve and a dilated left ventricle. Starting at 5 years of age, she developed joint stiffness. At age 13.5 years, she had thickening of the calvaria, finger contractures, and pes cavus. She was diagnosed with mildly to moderately impaired intellectual development. At 15 years of age, she had short stature, coarse facial features, gingival hypertrophy, corneal whorling with thin maculae and cupped optic nerves, and claw hands. A muscle biopsy at 14 years of age showed round intracytoplasmic vacuoles, mainly localized to the histiocytes/macrophages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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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<a href="#14" class="mim-tip-reference" title="Renlund, M., Aula, P. <strong>Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.</strong> Am. J. Med. Genet. 28: 377-384, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425617</a>] [<a href="https://doi.org/10.1002/ajmg.1320280216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3425617">Renlund and Aula (1987)</a> reported successful prenatal identification of Salla disease on the basis of free sialic acid and free/total sialic acid ratio in amniocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3425617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 27 Finnish families, <a href="#5" class="mim-tip-reference" title="Haataja, L., Parkkola, R., Sonninen, P., Vanhanen, S.-L., Schleutker, J., Aarimaa, T., Turpeinen, U., Renlund, M., Aula, P. <strong>Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.</strong> Neuropediatrics 25: 238-244, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7885532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7885532</a>] [<a href="https://doi.org/10.1055/s-2008-1073028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7885532">Haataja et al. (1994)</a> localized the Salla disease locus to chromosome 6q. The highest lod score, 8.95, was obtained with a microsatellite marker at locus D6S286 at theta = 0.00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of 3 closely linked markers, suggesting that the length of the critical region is of the order of 190 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7885532" 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>Similarities in biochemical findings suggested to <a href="#18" class="mim-tip-reference" title="Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P. <strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong> Am. J. Hum. Genet. 57: 893-901, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573051</a>]" pmid="7573051">Schleutker et al. (1995)</a> that Salla disease and the infantile form of sialic acid storage disease represent allelic disorders despite their drastically different clinical phenotypes. <a href="#17" class="mim-tip-reference" title="Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L. <strong>Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.</strong> Genomics 27: 286-292, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557994</a>] [<a href="https://doi.org/10.1006/geno.1995.1044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557994">Schleutker et al. (1995)</a> reported linkage studies to support this suggestion in 50 Finnish Salla disease families and 26 non-Finnish families with no genealogic connections to Finns affected either with the Finnish type of Salla disease, the 'intermediate' form of the disease, or the infantile form of sialic acid storage disease (ISSD). Linkage to the same locus on 6q14-q15 was found. The highest lod score of 17.30 was obtained with a microsatellite marker of locus D6S280. When linkage disequilibrium was adopted in the linkage analyses, they could further assign the locus to the immediate vicinity of marker locus D6S406. Linkage disequilibrium facilitated restriction of a critical chromosomal region to approximately 80 kb, well within limits of positional cloning techniques. Haplotype analysis of Finnish Salla disease chromosomes revealed 1 common haplotype that was also seen in most of the non-Finnish patients with the Finnish type of Salla disease. This ancestral haplotype differed from those observed in ISSD patients, who had a different common haplotype. The intermediate cases presumably represent compound heterozygotes. They lack the fetal and neonatal manifestations typical of ISSD but are more severely affected than the patients with Salla disease. <a href="#18" class="mim-tip-reference" title="Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P. <strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong> Am. J. Hum. Genet. 57: 893-901, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573051</a>]" pmid="7573051">Schleutker et al. (1995)</a> studied 3 such families, each of which carried the Finnish Salla disease haplotype on 1 chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573051+7557994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Leppanen, P., Isosomppi, J., Schleutker, J., Aula, P., Peltonen, L. <strong>A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.</strong> Genomics 37: 62-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8921371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8921371</a>] [<a href="https://doi.org/10.1006/geno.1996.0521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8921371">Leppanen et al. (1996)</a> carried out extensive haplotype analysis to monitor ancient recombination events in Finnish families with Salla disease to refine the critical map interval for the SD gene. This haplotype analysis placed the SD locus proximal to the marker D6S1622. Genetic mapping positioned SD in a 1-cM region between D6S280 and D6S1622. <a href="#9" class="mim-tip-reference" title="Leppanen, P., Isosomppi, J., Schleutker, J., Aula, P., Peltonen, L. <strong>A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.</strong> Genomics 37: 62-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8921371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8921371</a>] [<a href="https://doi.org/10.1006/geno.1996.0521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8921371">Leppanen et al. (1996)</a> then screened P1 and PAC libraries to isolate clones mapping in the critical region. Fiber-FISH (fluorescence in situ hybridization on extended DNA fibers) was used to order clones and revealed that the critical map region was covered with 3 PAC clones. Within the critical DNA region 2 potential CpG islands were identified. Based on fiber-FISH and pulsed field gel analysis <a href="#9" class="mim-tip-reference" title="Leppanen, P., Isosomppi, J., Schleutker, J., Aula, P., Peltonen, L. <strong>A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.</strong> Genomics 37: 62-67, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8921371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8921371</a>] [<a href="https://doi.org/10.1006/geno.1996.0521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8921371">Leppanen et al. (1996)</a> concluded that the critical region for the SD locus is 200 kb in size and is flanked by the D6S1622 and D6S280 markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8921371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Using DNA polymorphisms (RFLPs) of 2 genes encoding lysosomal membrane proteins, LAMP-A (<a href="/entry/153330">153330</a>) and LAMP-B (<a href="/entry/309060">309060</a>), <a href="#16" class="mim-tip-reference" title="Schleutker, J., Haataja, L., Renlund, M., Puhakka, L., Viitala, J., Peltonen, L., Aula, P. <strong>Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.</strong> Hum. Genet. 88: 95-97, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1959930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1959930</a>] [<a href="https://doi.org/10.1007/BF00204936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1959930">Schleutker et al. (1991)</a> could demonstrate no linkage with the Salla disease phenotype, thus excluding these as candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1959930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By exclusion mapping, <a href="#7" class="mim-tip-reference" title="Haataja, L., Schleutker, J., Renlund, M., Palotie, A., Peltonen, L., Aula, P. <strong>Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.</strong> Hum. Genet. 88: 298-300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1733832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1733832</a>] [<a href="https://doi.org/10.1007/BF00197263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1733832">Haataja et al. (1992)</a> excluded at least 55% of the genome as the locus for the Salla disease gene, while some chromosome areas, particularly the long arm of chromosome 2, were highlighted as possible sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1733832" 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>The transmission pattern of Salla disease in the Finnish patients reported by <a href="#21" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" 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="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> used a positional candidate gene approach to identify a gene, SLC17A5, encoding a protein, sialin, with a predicted transport function that belongs to a family of anion/cation symporters (ACS). They found a homozygous SLC17A5 mutation (R39C; <a href="/entry/604322#0001">604322.0001</a>) in 5 Finnish patients with Salla disease and 6 different SLC17A5 mutations in 6 ISSD patients of different non-Finnish ethnic origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" 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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<div class="mim-changed mim-change"><p>In a patient with Salla disease, <a href="#19" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> identified compound heterozygous mutations in the SLC17A5 gene: a maternally-inherited 1-bp deletion (c.533delC, <a href="/entry/604322#0002">604322.0002</a>) and a paternally-inherited mosaic 184-bp deletion (<a href="/entry/604322#0010">604322.0010</a>) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The 184-bp deletion was not detected in the patient's blood by whole-exome or whole-genome sequencing, but was identified in RNAseq in the patient's fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, but not present in blood or buccal cells. Coexpression of wildtype SLC17A5 and SLC17A5 with skipping of exon 3 in HEK293 cells resulted in decreased expression of both SLC17A5 constructs, suggesting a dominant-negative effect of the exon 3-skipped constructs. Although both SLC17A5 mutations identified in this patient were predicted to cause a severe sialic storage disorder presentation, <a href="#19" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> hypothesized that the mosaicism of the 184-bp deletion led to a milder Salla disease presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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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<p><a href="#15" class="mim-tip-reference" title="Renlund, M., Kovanen, P. T., Raivio, K. O., Aula, P., Gahmberg, C. G., Ehnholm, C. <strong>Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease: lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.</strong> J. Clin. Invest. 77: 568-574, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944269</a>] [<a href="https://doi.org/10.1172/JCI112338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944269">Renlund et al. (1986)</a> described experiments that led them to conclude that the basic defect in Salla disease was deficient transport of free sialic acid at the lysosomal membrane. Bound sialic acid gets into the lysosome but has difficulty in egress. Fibroblast endogenous synthesis of sialic acid and lysosomal cleavage of exogenous glycoconjugates are normal but transport of free sialic acid through the lysosomal membrane is defective. Neutral monosaccharides and amino acids are thought to cross the lysosomal membrane by passive diffusion. Lysosomal transport of the basic amino acid cystine is carrier-mediated and is defective in cystinosis (<a href="/entry/219800">219800</a>). Sialic acid, a negatively charged compound (pK 2.6), may also require a specific transport mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3944269" 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="Thomas, G. H. <strong>Personal Communication.</strong> Baltimore, Md. 11/19/1989."None>Thomas (1989)</a> postulated that the infantile form of sialuria was likely to be allelic to Salla disease; the disorder showed lysosomal storage of free sialic acid and probably represents, as did Salla disease, a defect in lysosomal transmembrane transport.</p><p><a href="#10" class="mim-tip-reference" title="Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W. <strong>Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.</strong> J. Clin. Invest. 87: 1329-1335, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010546</a>] [<a href="https://doi.org/10.1172/JCI115136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2010546">Mancini et al. (1991)</a> demonstrated a proton-driven carrier for sialic acid in human lysosomal membranes. This transporter had similar properties to those previously identified in rat liver. By measuring the uptake kinetics of labeled glucuronic acid, they excluded the existence of more than 1 acidic monosaccharide carrier. Uptake studies with labeled sialic acid and glucuronic acid in lysosomal membrane vesicles from cultured fibroblasts from patients with different clinical forms of sialic acid storage disease showed defective carrier-mediated transport for both sugars. Further evidence that the defective transport of acidic sugars represents the primary genetic defect in sialic acid storage diseases was provided by the observation of reduced, half-normal transport rates in lymphoblast-derived lysosomal membrane vesicles from 5 unrelated obligate heterozygotes. This was the first observation of a human lysosomal transport defect for multiple physiologic compounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010546" 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="#3" class="mim-tip-reference" title="Blom, H. J., Andersson, H. C., Seppala, R., Tietze, F., Gahl, W. A. <strong>Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.</strong> Biochem. J. 268: 621-625, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363700</a>] [<a href="https://doi.org/10.1042/bj2680621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363700">Blom et al. (1990)</a> also demonstrated a defect in the egress of glucuronic acid and other acidic monosaccharides from lysosomes in these disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2363700" 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="#12" class="mim-tip-reference" title="Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y. <strong>Identification of a vesicular aspartate transporter.</strong> Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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.0804015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18695252">Miyaji et al. (2008)</a> presented evidence that the SLC17A5 gene also acts as a vesicular glutamic acid/aspartate transporter in the brain. The mouse sialin mutant R39C (<a href="/entry/604322#0001">604322.0001</a>), which is found in patients with Salla disease (<a href="/entry/604369">604369</a>), was completely inactive in the energy-dependent uptake of aspartate and glutamic acid, but retained 34% of wildtype sialic acid/H+ cotransport activity. In contrast, mouse sialin mutant H183R (<a href="/entry/604322#0004">604322.0004</a>), which is found in the severe infantile form of the human disorder ISSD (<a href="/entry/269920">269920</a>), showed active energy-dependent transport, but inactive H+/sialic acid cotransport. <a href="#12" class="mim-tip-reference" title="Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y. <strong>Identification of a vesicular aspartate transporter.</strong> Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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.0804015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18695252">Miyaji et al. (2008)</a> suggested that impaired aspartergic and glutamatergic neurotransmission could explain the severe CNS manifestations in patients with Salla disease who survive to adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18695252" 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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Aula, P., Autio, S., Raivio, K. O., Rapola, J., Thoden, C.-J., Koskela, S.-L., Yamashina, I.
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<strong>'Salla disease': a new lysosomal storage disorder.</strong>
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Arch. Neurol. 36: 88-94, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/420628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">420628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=420628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1979.00500380058006" target="_blank">Full Text</a>]
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Baumkotter, J., Cantz, M., Mendla, K., Baumann, W., Friebolin, H., Gehler, J., Spranger, J.
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<strong>N-acetylneuraminic acid storage disease.</strong>
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Hum. Genet. 71: 155-159, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00439413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00197263" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1471-4159.1982.tb08701.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI115136" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00401229" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0804015105" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.33.1.57" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280216" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1044" target="_blank">Full Text</a>]
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Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A.
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[<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank">Full Text</a>]
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<a id="Thomas1989" class="mim-anchor"></a>
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Thomas, G. H.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/19/1989.
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<a id="Verheijen1999" class="mim-anchor"></a>
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Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S.
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<strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong>
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Nature Genet. 23: 462-465, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" 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/10.1038/70585" target="_blank">Full Text</a>]
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<a id="Wolburg-Buchholz1985" class="mim-anchor"></a>
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Wolburg-Buchholz, K., Schlote, W., Baumkotter, J., Cantz, M., Holder, H., Harzer, K.
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<strong>Familial lysosomal storage disease with generalized vacuolization and sialic aciduria: sporadic Salla disease.</strong>
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Neuropediatrics 16: 67-75, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4010893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4010893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4010893" 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/10.1055/s-2008-1052546" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 02/07/2025
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Cassandra L. Kniffin - updated : 4/13/2009
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Victor A. McKusick : 12/27/1999
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carol : 02/18/2025
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alopez : 02/11/2025<br>carol : 02/07/2025<br>carol : 01/10/2024<br>carol : 12/04/2023<br>carol : 01/02/2014<br>carol : 1/2/2014<br>carol : 3/7/2012<br>wwang : 4/29/2009<br>ckniffin : 4/13/2009<br>ckniffin : 4/13/2009<br>wwang : 9/14/2006<br>mgross : 12/27/1999<br>mgross : 12/27/1999<br>mgross : 12/27/1999
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<span class="mim-font">
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<strong>#</strong> 604369
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SALLA DISEASE; SD
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<em>Alternative titles; symbols</em>
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SIALURIA, FINNISH TYPE
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<strong>SNOMEDCT:</strong> 87074006;
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<strong>ORPHA:</strong> 309331, 309334, 834;
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<strong>DO:</strong> 3659;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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6q13
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Salla disease
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604369
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Autosomal recessive
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<span class="mim-font">
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3
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SLC17A5
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<span class="mim-font">
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604322
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Salla disease (SD) is caused by homozygous or compound heterozygous mutation in the SLC17A5 gene (604322) on chromosome 6q13.</p><p>Infantile sialic storage disease (ISSD; 269920) is an allelic disorder.</p>
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<p>Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and impaired intellectual development; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999). </p>
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<p>Salla disease is an adult form of sialuria, also called sialic acid storage disease, that has been found particularly in residents of an area of Finland. In a northeastern part of Finland, Aula et al. (1979) observed Salla disease in 4 adults in 2 sibships related as second cousins. In addition, 27 possible cases in 10 sibships were known. Features are mental retardation, clumsiness, onset at 12 to 18 months of age with deterioration in the second decade, 4 to 15% vacuolated lymphocytes, enlarged storage lysosomes, and increased sialic acid in the urine. The disease was named for the geographic area where the kindred lived. Urinary excretion of mucopolysaccharides, amino acids, glycoasparagines, and oligosaccharides was normal. Three brothers were affected in 1 sibship, as well as a female third cousin of theirs. The disorder was first detected during a survey for aspartylglucosaminuria, in a search for cytoplasmic vacuoles. </p><p>Using both clinical and laboratory methods in an examination of mentally retarded patients mainly in northern Finland, Renlund et al. (1983) identified 34 patients who satisfied the following criteria for Salla disease: progressive psychomotor retardation of early onset, lysosomal storage, and increased urinary excretion of free sialic acid (N-acetylneuraminic acid; NeuAc). The patients showed ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvaria, and exotropia were present in about half the patients. Progressive diminution in the amplitude of the EEG was noted. Life span appeared to be normal; patients ranged from 3 to 63 years in age. </p><p>No precisely similar patients with urinary excretion of free sialic acid had, it seemed, been reported outside Finland. However, Hancock et al. (1982) reported a patient with extensive accumulation of free NeuAc in tissues and abnormal storage lysosomes who pursued a fulminant clinical course ending in death at 5 months of age. The amount of free sialic acid in the urine was about 20 times higher than the 15- to 30-fold increase in Salla patients. </p><p>Wolburg-Buchholz et al. (1985) reported 3 affected sibs in a sibship of 8. One affected girl died at 8 years and another at age 17. A 9-year-old boy was alive with severe psychomotor retardation with spastic tetraparesis and convulsions. Microscopic studies including ultrastructural examinations showed lysosomal vacuolization in mesenchymal and parenchymal cells. Increased amounts of free sialic acid in the urine and sialic acid storage in cultured fibroblasts were consistent with Salla disease. The family had no known Finnish ancestry. Echenne et al. (1986) described the case of a 5-year-old boy from southern France. </p><p>Baumkotter et al. (1985) reported a patient with early-onset sialic acid storage disease whose early clinical course was similar to that of Salla disease but who had clinical and skeletal abnormalities not mentioned in that disorder. In 3 patients with different forms of NANA storage disease, accumulation of free NANA in the lysosomes was found in cultured fibroblasts, suggesting a transport defect (Mancini et al., 1986). One of the samples came from a patient with Salla disease, a second came from an infant with the severe form of NSD, and the third came from a child with a milder infantile form. </p><p>Haataja et al. (1994) described 4 patients with an unusually severe form of Salla disease, more severe than those of 86 other Finnish patients. Hypotonia and developmental delay were first noted between 2 and 4 months of age. The patients were living, with ages ranging from 11 to 24, but were severely mentally retarded, either not responsive to the environment or responding only with facial gestures. All of them suffered from generalized tonic-clonic seizures, unlike the typical absence-like epilepsy in usual Salla disease. Magnetic resonance imaging (MRI) of the severely affected individuals demonstrated abnormally high signal intensity of subcortical white matter with sparing of the U fibers. There was no abnormality of basal ganglia. In these 4 severe cases and more typical cases, there were similar white matter changes in the thin string-like corpus callosum. Cerebellar atrophy was noted in the severely affected individuals but was not apparent on the scans of patients with typical Salla disease. In all these patients the MRI resembled the myelination pattern of a several-month-old infant. Linkage and haplotype analysis did not distinguish these 4 patients with the unusually severe course from the other Finnish patients with typical Salla disease. The authors raised the possibility of homoallelic heterogeneity. </p><p>Shinawi et al. (2025) reported a 16-year-old patient who presented at 16 months of age with developmental delay and dysmorphic features, including a broad nasal bridge, anteverted nares, and periorbital edema. Laboratory testing at that time demonstrated a mild elevation of oligosaccharides. At 3 years of age, she had brittle teeth, obstructive sleep apnea, recurrent ear infections, and thoracolumbar scoliosis. She also had an echocardiogram which showed a thick and deformed aortic valve and a dilated left ventricle. Starting at 5 years of age, she developed joint stiffness. At age 13.5 years, she had thickening of the calvaria, finger contractures, and pes cavus. She was diagnosed with mildly to moderately impaired intellectual development. At 15 years of age, she had short stature, coarse facial features, gingival hypertrophy, corneal whorling with thin maculae and cupped optic nerves, and claw hands. A muscle biopsy at 14 years of age showed round intracytoplasmic vacuoles, mainly localized to the histiocytes/macrophages. </p>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Renlund and Aula (1987) reported successful prenatal identification of Salla disease on the basis of free sialic acid and free/total sialic acid ratio in amniocytes. </p>
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<strong>Mapping</strong>
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<p>In a study of 27 Finnish families, Haataja et al. (1994) localized the Salla disease locus to chromosome 6q. The highest lod score, 8.95, was obtained with a microsatellite marker at locus D6S286 at theta = 0.00. Evidence for linkage disequilibrium was observed between the SD locus and the alleles of 3 closely linked markers, suggesting that the length of the critical region is of the order of 190 kb. </p><p>Similarities in biochemical findings suggested to Schleutker et al. (1995) that Salla disease and the infantile form of sialic acid storage disease represent allelic disorders despite their drastically different clinical phenotypes. Schleutker et al. (1995) reported linkage studies to support this suggestion in 50 Finnish Salla disease families and 26 non-Finnish families with no genealogic connections to Finns affected either with the Finnish type of Salla disease, the 'intermediate' form of the disease, or the infantile form of sialic acid storage disease (ISSD). Linkage to the same locus on 6q14-q15 was found. The highest lod score of 17.30 was obtained with a microsatellite marker of locus D6S280. When linkage disequilibrium was adopted in the linkage analyses, they could further assign the locus to the immediate vicinity of marker locus D6S406. Linkage disequilibrium facilitated restriction of a critical chromosomal region to approximately 80 kb, well within limits of positional cloning techniques. Haplotype analysis of Finnish Salla disease chromosomes revealed 1 common haplotype that was also seen in most of the non-Finnish patients with the Finnish type of Salla disease. This ancestral haplotype differed from those observed in ISSD patients, who had a different common haplotype. The intermediate cases presumably represent compound heterozygotes. They lack the fetal and neonatal manifestations typical of ISSD but are more severely affected than the patients with Salla disease. Schleutker et al. (1995) studied 3 such families, each of which carried the Finnish Salla disease haplotype on 1 chromosome. </p><p>Leppanen et al. (1996) carried out extensive haplotype analysis to monitor ancient recombination events in Finnish families with Salla disease to refine the critical map interval for the SD gene. This haplotype analysis placed the SD locus proximal to the marker D6S1622. Genetic mapping positioned SD in a 1-cM region between D6S280 and D6S1622. Leppanen et al. (1996) then screened P1 and PAC libraries to isolate clones mapping in the critical region. Fiber-FISH (fluorescence in situ hybridization on extended DNA fibers) was used to order clones and revealed that the critical map region was covered with 3 PAC clones. Within the critical DNA region 2 potential CpG islands were identified. Based on fiber-FISH and pulsed field gel analysis Leppanen et al. (1996) concluded that the critical region for the SD locus is 200 kb in size and is flanked by the D6S1622 and D6S280 markers. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Using DNA polymorphisms (RFLPs) of 2 genes encoding lysosomal membrane proteins, LAMP-A (153330) and LAMP-B (309060), Schleutker et al. (1991) could demonstrate no linkage with the Salla disease phenotype, thus excluding these as candidate genes. </p><p>By exclusion mapping, Haataja et al. (1992) excluded at least 55% of the genome as the locus for the Salla disease gene, while some chromosome areas, particularly the long arm of chromosome 2, were highlighted as possible sites. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of Salla disease in the Finnish patients reported by Verheijen et al. (1999) was consistent with autosomal recessive inheritance. </p>
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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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<p>Verheijen et al. (1999) used a positional candidate gene approach to identify a gene, SLC17A5, encoding a protein, sialin, with a predicted transport function that belongs to a family of anion/cation symporters (ACS). They found a homozygous SLC17A5 mutation (R39C; 604322.0001) in 5 Finnish patients with Salla disease and 6 different SLC17A5 mutations in 6 ISSD patients of different non-Finnish ethnic origins. </p><p>In a patient with Salla disease, Shinawi et al. (2025) identified compound heterozygous mutations in the SLC17A5 gene: a maternally-inherited 1-bp deletion (c.533delC, 604322.0002) and a paternally-inherited mosaic 184-bp deletion (604322.0010) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The 184-bp deletion was not detected in the patient's blood by whole-exome or whole-genome sequencing, but was identified in RNAseq in the patient's fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, but not present in blood or buccal cells. Coexpression of wildtype SLC17A5 and SLC17A5 with skipping of exon 3 in HEK293 cells resulted in decreased expression of both SLC17A5 constructs, suggesting a dominant-negative effect of the exon 3-skipped constructs. Although both SLC17A5 mutations identified in this patient were predicted to cause a severe sialic storage disorder presentation, Shinawi et al. (2025) hypothesized that the mosaicism of the 184-bp deletion led to a milder Salla disease presentation. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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<p>Renlund et al. (1986) described experiments that led them to conclude that the basic defect in Salla disease was deficient transport of free sialic acid at the lysosomal membrane. Bound sialic acid gets into the lysosome but has difficulty in egress. Fibroblast endogenous synthesis of sialic acid and lysosomal cleavage of exogenous glycoconjugates are normal but transport of free sialic acid through the lysosomal membrane is defective. Neutral monosaccharides and amino acids are thought to cross the lysosomal membrane by passive diffusion. Lysosomal transport of the basic amino acid cystine is carrier-mediated and is defective in cystinosis (219800). Sialic acid, a negatively charged compound (pK 2.6), may also require a specific transport mechanism. </p><p>Thomas (1989) postulated that the infantile form of sialuria was likely to be allelic to Salla disease; the disorder showed lysosomal storage of free sialic acid and probably represents, as did Salla disease, a defect in lysosomal transmembrane transport.</p><p>Mancini et al. (1991) demonstrated a proton-driven carrier for sialic acid in human lysosomal membranes. This transporter had similar properties to those previously identified in rat liver. By measuring the uptake kinetics of labeled glucuronic acid, they excluded the existence of more than 1 acidic monosaccharide carrier. Uptake studies with labeled sialic acid and glucuronic acid in lysosomal membrane vesicles from cultured fibroblasts from patients with different clinical forms of sialic acid storage disease showed defective carrier-mediated transport for both sugars. Further evidence that the defective transport of acidic sugars represents the primary genetic defect in sialic acid storage diseases was provided by the observation of reduced, half-normal transport rates in lymphoblast-derived lysosomal membrane vesicles from 5 unrelated obligate heterozygotes. This was the first observation of a human lysosomal transport defect for multiple physiologic compounds. </p><p>Blom et al. (1990) also demonstrated a defect in the egress of glucuronic acid and other acidic monosaccharides from lysosomes in these disorders. </p><p>Miyaji et al. (2008) presented evidence that the SLC17A5 gene also acts as a vesicular glutamic acid/aspartate transporter in the brain. The mouse sialin mutant R39C (604322.0001), which is found in patients with Salla disease (604369), was completely inactive in the energy-dependent uptake of aspartate and glutamic acid, but retained 34% of wildtype sialic acid/H+ cotransport activity. In contrast, mouse sialin mutant H183R (604322.0004), which is found in the severe infantile form of the human disorder ISSD (269920), showed active energy-dependent transport, but inactive H+/sialic acid cotransport. Miyaji et al. (2008) suggested that impaired aspartergic and glutamatergic neurotransmission could explain the severe CNS manifestations in patients with Salla disease who survive to adulthood. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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Haataja, L., Schleutker, J., Laine, A.-P., Renlund, M., Savontaus, M.-L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P.
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<strong>The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.</strong>
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Am. J. Hum. Genet. 54: 1042-1049, 1994.
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<strong>Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.</strong>
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Hum. Genet. 88: 298-300, 1992.
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Hancock, L. W., Thaler, M. M., Horwitz, A. L., Dawson, G.
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Leppanen, P., Isosomppi, J., Schleutker, J., Aula, P., Peltonen, L.
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<strong>A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.</strong>
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Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W.
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Mancini, G. M. S., Verheijen, F. W., Galjaard, H.
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<strong>Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.</strong>
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Hum. Genet. 73: 214-217, 1986.
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Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y.
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<strong>Identification of a vesicular aspartate transporter.</strong>
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Renlund, M., Aula, P., Raivio, K. O., Autio, S., Sainio, K., Rapola, J., Koskela, S.-L.
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<strong>Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.</strong>
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Neurology 33: 57-66, 1983.
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Renlund, M., Aula, P.
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<strong>Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.</strong>
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Am. J. Med. Genet. 28: 377-384, 1987.
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Renlund, M., Kovanen, P. T., Raivio, K. O., Aula, P., Gahmberg, C. G., Ehnholm, C.
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<strong>Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease: lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.</strong>
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J. Clin. Invest. 77: 568-574, 1986.
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Schleutker, J., Haataja, L., Renlund, M., Puhakka, L., Viitala, J., Peltonen, L., Aula, P.
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<strong>Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.</strong>
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Hum. Genet. 88: 95-97, 1991.
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<p class="mim-text-font">
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Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L.
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<strong>Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.</strong>
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Genomics 27: 286-292, 1995.
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Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P.
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<strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong>
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[PubMed: 7573051]
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<li>
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<p class="mim-text-font">
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Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A.
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<strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong>
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Molec. Genet. Metab. 144: 109004, 2025.
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[PubMed: 39742826]
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[Full Text: https://doi.org/10.1016/j.ymgme.2024.109004]
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</p>
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<li>
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<p class="mim-text-font">
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Thomas, G. H.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/19/1989.
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</p>
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<li>
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<p class="mim-text-font">
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Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S.
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<strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong>
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Nature Genet. 23: 462-465, 1999.
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[PubMed: 10581036]
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[Full Text: https://doi.org/10.1038/70585]
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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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Wolburg-Buchholz, K., Schlote, W., Baumkotter, J., Cantz, M., Holder, H., Harzer, K.
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<strong>Familial lysosomal storage disease with generalized vacuolization and sialic aciduria: sporadic Salla disease.</strong>
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Neuropediatrics 16: 67-75, 1985.
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[PubMed: 4010893]
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[Full Text: https://doi.org/10.1055/s-2008-1052546]
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</p>
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</li>
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</ol>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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 : 02/07/2025<br>Cassandra L. Kniffin - updated : 4/13/2009
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 12/27/1999
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<span class="text-nowrap mim-text-font">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 02/18/2025<br>alopez : 02/11/2025<br>carol : 02/07/2025<br>carol : 01/10/2024<br>carol : 12/04/2023<br>carol : 01/02/2014<br>carol : 1/2/2014<br>carol : 3/7/2012<br>wwang : 4/29/2009<br>ckniffin : 4/13/2009<br>ckniffin : 4/13/2009<br>wwang : 9/14/2006<br>mgross : 12/27/1999<br>mgross : 12/27/1999<br>mgross : 12/27/1999
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