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Entry
- #269920 - INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
- OMIM
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<span class="h4">#269920</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/269920"><strong>Clinical Synopsis</strong></a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=INFANTILE SIALIC ACID STORAGE 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21372&Typ=Pat" title="Free sialic acid storage disease, infantile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Free sialic acid storage d…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=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…&nbsp;</a></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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309324" title="Free sialic acid storage disease, infantile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Free sialic acid storage d…</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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/13236e50-4d8f-4f12-92ad-fd2012f596d3/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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:269920" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 34566007<br />
<strong>ORPHA:</strong> 309324, 834<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
269920
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
</span>
</h3>
</div>
<div>
<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<div>
<h4>
<span class="mim-font">
SIALURIA, INFANTILE FORM<br />
N-ACETYLNEURAMINIC ACID STORAGE DISEASE<br />
NANA STORAGE DISEASE; NSD
</span>
</h4>
</div>
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<br />
</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/648?start=-3&limit=10&highlight=648">
6q13
</a>
</span>
</td>
<td>
<span class="mim-font">
Sialic acid storage disorder, infantile
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269920"> 269920 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SLC17A5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604322"> 604322 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="/clinicalSynopsis/269920" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/269920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facial features <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Clear cornea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854822</a>]</span><br /> -
Albinoid fundi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849215</a>]</span><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anteverted nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gum hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441787004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441787004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017567</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000212</a>]</span><br /> -
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
Heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mild rib widening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849213</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Ascites <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/389026000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">389026000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R18.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003962</a>, <a href="https://bioportal.bioontology.org/search?q=C5441966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- J-shaped sella <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854718</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002680</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Metaphyseal irregularities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838662</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Calcaneal calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849217</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypopigmented skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23006000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23006000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89031001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89031001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001010</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Fair hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297995004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297995004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849221</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002286</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 /> -
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 /> -
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 /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br />
</span>
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</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hydrops fetalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276508000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276508000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P83.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span><br />
</span>
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<div>
<div>
<span class="h5 mim-font">
<em> Delivery </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Premature birth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282020008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282020008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367494004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367494004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/644.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">644.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151526</a>, <a href="https://bioportal.bioontology.org/search?q=C2028283&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2028283</a>, <a href="https://bioportal.bioontology.org/search?q=C0233315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span><br />
</span>
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<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased urinary free sialic acid (N-acetylneuraminic acid, 20-200x normal) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849218</a>]</span><br /> -
Increased fibroblast free sialic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849219</a>]</span><br /> -
Enlarged lysosomal vacuoles in lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836855</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span><br /> -
Conjugated hyperbilirubinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9326001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9326001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268307</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002908</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002908</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Allelic to Sialuria, Finnish type (<a href="/entry/604369">604369</a>)<br /> -
Early death (mean age 13 months)<br />
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<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, <a href="/entry/604322#0002">604322.0002</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that infantile sialic acid storage disease (ISSD) is caused by homozygous or compound heterozygous mutation in the SLC17A5 gene (<a href="/entry/604322">604322</a>) on chromosome 6q13.</p><p>Salla disease (<a href="/entry/604369">604369</a>) is an allelic disorder.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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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 mental retardation; 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="#28" 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. &lt;strong&gt;A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.&lt;/strong&gt; Nature Genet. 23: 462-465, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10581036/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10581036&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/70585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
<p>Infantile sialic storage disease was described by <a href="#27" class="mim-tip-reference" title="Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G. &lt;strong&gt;Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.&lt;/strong&gt; Europ. J. Pediat. 139: 142-147, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441499&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7151835">Tondeur et al. (1982)</a> and studied by <a href="#24" class="mim-tip-reference" title="Thomas, G. H., Scocca, J., Libert, J., Vamos, E., Miller, C. S., Reynolds, L. W. &lt;strong&gt;Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.&lt;/strong&gt; Pediat. Res. 17: 307-312, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6856393/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6856393&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-198305000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6856393">Thomas et al. (1983)</a>. The infant son and daughter of unrelated Yugoslav parents reported by <a href="#27" class="mim-tip-reference" title="Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G. &lt;strong&gt;Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.&lt;/strong&gt; Europ. J. Pediat. 139: 142-147, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441499&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7151835">Tondeur et al. (1982)</a> had a much more severe clinical course than that in Salla disease (<a href="/entry/604369">604369</a>). The sibs showed coarse facies, hepatosplenomegaly, prominent psychomotor retardation, and unexpectedly fair complexion. Electron microscopy showed generalized lysosomal storage of a polysaccharide-like material. Biochemical analyses of urine and cultured fibroblasts showed increased levels of unbound (free) sialic acid. Although both sibs were alive at the time of report, the eldest was said to be in a terminal stage at age 4.5 years. Aneurysmal dilatation of capillaries in the bulbar conjunctiva had appeared at age 3. He had been normal at birth except for an inguinal hernia which was repaired at age 1 week; developmental abnormality was first noted at age 5 months and was progressive thereafter. <a href="#24" class="mim-tip-reference" title="Thomas, G. H., Scocca, J., Libert, J., Vamos, E., Miller, C. S., Reynolds, L. W. &lt;strong&gt;Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.&lt;/strong&gt; Pediat. Res. 17: 307-312, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6856393/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6856393&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-198305000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6856393">Thomas et al. (1983)</a> found that unstained and unfixed, cultured fibroblasts showed, by phase microscopy, many vacuolated structures resembling a honeycomb. Electron microscopy, following fixation, showed that the honeycombing resulted from numerous, closely packed, cytoplasmic membrane-bound vacuoles. Biochemical studies of crude sonicate showed the presence at levels 4 to 7 times normal of an acid-soluble substance with the characteristics of sialic acid. Quantitative studies showed 39.8 nmoles of free sialic acid per mg protein as compared with the normal of 1 to 2 nmoles per mg. Bound sialic acid levels were at the upper limit of normal. After incubation of the fibroblasts with tritiated N-acetyl-mannosamine there was a 7-fold increase (over the normal) in radioactivity of free sialic acid with no increase in labeled, bound sialic acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7151835+6856393" 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="#22" class="mim-tip-reference" title="Stevenson, R. E., Taylor, H. A., Schroer, R. J. &lt;strong&gt;Sialuria--clinical and laboratory features of a severe infantile form.&lt;/strong&gt; Proc. Greenwood Genet. Center 1: 73-78, 1982."None>Stevenson et al. (1982)</a> reported a case of sialuria with infantile onset and severe manifestations. Free sialic acid was elevated in urine, serum and cellular cytosol.</p><p><a href="#9" class="mim-tip-reference" title="Hancock, L. W., Thaler, M. M., Horwitz, A. L., Dawson, G. &lt;strong&gt;Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.&lt;/strong&gt; J. Neurochem. 38: 803-809, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7057193/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7057193&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1471-4159.1982.tb08701.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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. The amount of free sialic acid in the urine was about 20 times higher than the 15- to 30-fold increase in patients with Salla disease. <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><p><a href="#2" class="mim-tip-reference" title="Baumkotter, J., Cantz, M., Mendla, K., Baumann, W., Friebolin, H., Gehler, J., Spranger, J. &lt;strong&gt;N-acetylneuraminic acid storage disease.&lt;/strong&gt; Hum. Genet. 71: 155-159, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4043964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4043964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00283373&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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. <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'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 patients with different forms of N-acetylneuraminic acid (NANA) storage disease, accumulation of free NANA in the lysosomes was found in cultured fibroblasts, suggesting a transport defect (<a href="#15" class="mim-tip-reference" title="Mancini, G. M. S., Verheijen, F. W., Galjaard, H. &lt;strong&gt;Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.&lt;/strong&gt; Hum. Genet. 73: 214-217, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3733077/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3733077&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00401229&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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/?cmd=link&linkname=pubmed_pubmed&from_uid=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><p><a href="#25" class="mim-tip-reference" title="Thomas, G. H., Scocca, J., Miller, C. S., Reynolds, L. &lt;strong&gt;Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.&lt;/strong&gt; Clin. Genet. 36: 242-249, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2553307/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2553307&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03197.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2553307">Thomas et al. (1989)</a> demonstrated striking cellular differences between the original French patient with sialuria (<a href="/entry/269921">269921</a>) and patients such as those reported by <a href="#8" class="mim-tip-reference" title="Hancock, L. W., Horwitz, A. L., Dawson, G. &lt;strong&gt;N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetyl-neuraminic acid storage disease.&lt;/strong&gt; Biochim. Biophys. Acta 760: 42-52, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6615884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6615884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0304-4165(83)90122-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6615884">Hancock et al. (1983)</a>, <a href="#21" class="mim-tip-reference" title="Stevenson, R. E., Lubinsky, M., Taylor, H. A., Wenger, D. A., Schroer, R. J., Olmstead, P. M. &lt;strong&gt;Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.&lt;/strong&gt; Pediatrics 72: 441-449, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6889058/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6889058&lt;/a&gt;]" pmid="6889058">Stevenson et al. (1983)</a>, and <a href="#27" class="mim-tip-reference" title="Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G. &lt;strong&gt;Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.&lt;/strong&gt; Europ. J. Pediat. 139: 142-147, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7151835/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7151835&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00441499&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7151835">Tondeur et al. (1982)</a> with infantile sialic acid storage disease. Whereas phase microscopy and immunochemical studies showed abnormal storage within intracellular inclusions in ISSD cells, <a href="#25" class="mim-tip-reference" title="Thomas, G. H., Scocca, J., Miller, C. S., Reynolds, L. &lt;strong&gt;Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.&lt;/strong&gt; Clin. Genet. 36: 242-249, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2553307/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2553307&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03197.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2553307">Thomas et al. (1989)</a> found no morphologic evidence of storage within any subcellular organelle in the French sialuria cells. Moreover, comparative subcellular fractionation studies on gradients of colloidal silica showed the excess sialic acid in ISSD cells to be located within the light (buoyant) lysosomal fraction, whereas the excessive, free sialic acid in the sialuria cells was found in the cytoplasmic fraction with no increased storage within the lysosomal fractions. Salla disease, which occurs predominantly in the Finnish population, is also a form of sialuria. <a href="#26" class="mim-tip-reference" title="Thomas, G. H. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 11/19/1989."None>Thomas (1989)</a> suggested that Salla disease and ISSD may both be caused by a defect in transmembrane transport in the lysosome, leading to lysosomal storage of free sialic acid. Unlike Salla disease, ISSD has no particular ethnic prevalence; it presents with severe visceral involvement, dysostosis multiplex, psychomotor retardation, and early death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7151835+2553307+6615884+6889058" 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="#13" class="mim-tip-reference" title="Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W. &lt;strong&gt;Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.&lt;/strong&gt; J. Clin. Invest. 87: 1329-1335, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2010546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2010546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI115136&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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="#4" class="mim-tip-reference" title="Blom, H. J., Andersson, H. C., Seppala, R., Tietze, F., Gahl, W. A. &lt;strong&gt;Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.&lt;/strong&gt; Biochem. J. 268: 621-625, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2363700/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2363700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1042/bj2680621&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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/?term=2363700+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="#14" class="mim-tip-reference" title="Mancini, G. M. S., Hu, P., Verheijen, F. W., van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Beemer, F. A., Jennekens, F. G. I. &lt;strong&gt;Salla disease variant in a Dutch patient: potential value of polymorphonuclear leucocytes for heterozygote detection.&lt;/strong&gt; Europ. J. Pediat. 151: 590-595, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1505579/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1505579&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957729&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1505579">Mancini et al. (1992)</a> described a 10-year-old boy with free sialic acid storage disease. An unusual feature was slight corneal clouding. They noted that the patient's polymorphonuclear leukocytes showed a 10- to 30-fold increase in sialic acid content and that the values were slightly increased in the parents; they suggested that this was a means of identifying heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505579" 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>Studies of tissues from a 3-month-old baby who died with the diagnosis of ISSD permitted <a href="#3" class="mim-tip-reference" title="Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B. &lt;strong&gt;Infantile sialic acid storage disease: biochemical studies.&lt;/strong&gt; Am. J. Med. Genet. 58: 24-31, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573152/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7573152&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580107&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7573152">Berra et al. (1995)</a> to confirm the lysosomal nature of the disease by electron microscopy. They showed that the amount of free and total sialic acid was markedly increased and confirmed that only acid monosaccharide transport from the lysosome compartment is involved in the pathogenesis of ISSD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573152" 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="Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M. &lt;strong&gt;Clinical spectrum of infantile free sialic acid storage disease.&lt;/strong&gt; Am. J. Med. Genet. 82: 385-391, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10069709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10069709&lt;/a&gt;]" pmid="10069709">Lemyre et al. (1999)</a> reported 3 new cases of ISSD and reviewed the literature regarding 24 additional cases. Each of the 3 new cases presented differently: the first with nephrotic syndrome, the second with fetal and neonatal ascites, and the third with fetal ascites and esophageal atresia type III. Coarse facies, fair complexion, hepatosplenomegaly, and severe psychomotor retardation were constant findings. Nephrotic syndrome occurred in 4 of 7 cases in which renal studies were performed. Fetal/neonatal ascites was the mode of presentation in 13 of 21 (60%) cases; <a href="#12" class="mim-tip-reference" title="Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M. &lt;strong&gt;Clinical spectrum of infantile free sialic acid storage disease.&lt;/strong&gt; Am. J. Med. Genet. 82: 385-391, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10069709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10069709&lt;/a&gt;]" pmid="10069709">Lemyre et al. (1999)</a> suggested that ISSD should enter the differential diagnosis of hydrops fetalis with storage disease phenotype. Cardiomegaly was seen in 9 of 12 cases. Corneas were always clear, and 5 of 7 cases had albinoid fundi. Dysostosis multiplex was not prominent. Bone marrow aspiration was negative in 3 of 9 cases. Death usually occurred in infancy (range 1 month to 3.3 years, n = 20, mean 13.1 months); all reported deaths were caused by respiratory infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10069709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="diagnosis" class="mim-anchor"></a>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
In a twin pregnancy of a mother who had had a previous child who died at the age of 17 months of infantile sialic acid storage disease, <a href="#10" class="mim-tip-reference" title="Lake, B. D., Young, E. P., Nicolaides, K. &lt;strong&gt;Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.&lt;/strong&gt; J. Inherit. Metab. Dis. 12: 152-156, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2502674/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2502674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01800718&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2502674">Lake et al. (1989)</a> found by microscopic and biochemical analysis of chorionic villus sampling from both twins that 1 was affected. Selective feticide was performed. The unaffected twin completed the pregnancy uneventfully. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502674" 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>Recurrent nonimmune hydrops fetalis as a presentation of sialic acid storage disease was documented by <a href="#11" class="mim-tip-reference" title="Lefebvre, G., Wehbe, G., Heron, D., Vauthier Brouzes, D. &lt;strong&gt;Choukroun, J. B.; Darbois, Y.: Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.&lt;/strong&gt; Genet. Counsel. 10: 277-284, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10546100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10546100&lt;/a&gt;]" pmid="10546100">Lefebvre et al. (1999)</a>. Hydrops fetalis was diagnosed in 2 fetuses on second-trimester ultrasonography. The diagnosis of sialic acid storage disorder was based on high levels of free sialic acid in amniotic fluid and fetal cell cultures and by specific histologic features on fetopathologic examination. Sections through placental villi showing numerous empty vacuoles in the cytoplasm of both trophoblastic and Hofbauer cells were illustrated, as well as liver sections showing cytoplasmic vacuoles in the hepatocytes, and sections showing changes in the cytoplasm of the podocytes of the renal glomeruli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10546100" 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="#7" 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. &lt;strong&gt;The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.&lt;/strong&gt; Am. J. Hum. Genet. 54: 1042-1049, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8198127/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8198127&lt;/a&gt;]" pmid="8198127">Haataja et al. (1994)</a> localized the Salla disease locus to chromosome 6q. Similarities in biochemical findings suggested to <a href="#19" class="mim-tip-reference" title="Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P. &lt;strong&gt;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.&lt;/strong&gt; Am. J. Hum. Genet. 57: 893-901, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7573051&lt;/a&gt;]" pmid="7573051">Schleutker et al. (1995)</a> that Salla disease and ISSD represent allelic disorders despite their drastically different clinical phenotypes. <a href="#18" class="mim-tip-reference" title="Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L. &lt;strong&gt;Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.&lt;/strong&gt; Genomics 27: 286-292, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7557994/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7557994&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.1044&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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 with the Finnish type of Salla disease, the 'intermediate' form of the disease, or the infantile form of sialic acid storage disease. 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 which 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="#19" class="mim-tip-reference" title="Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P. &lt;strong&gt;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.&lt;/strong&gt; Am. J. Hum. Genet. 57: 893-901, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7573051&lt;/a&gt;]" 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+8198127+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>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of ISSD in the families reported by <a href="#28" 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. &lt;strong&gt;A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.&lt;/strong&gt; Nature Genet. 23: 462-465, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10581036/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10581036&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/70585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#28" 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. &lt;strong&gt;A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.&lt;/strong&gt; Nature Genet. 23: 462-465, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10581036/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10581036&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/70585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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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<a id="history" class="mim-anchor"></a>
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<p>Using DNA polymorphisms (RFLPs) of 2 genes encoding lysosomal membrane proteins, LAMPA (<a href="/entry/153330">153330</a>) and LAMPB (<a href="/entry/309060">309060</a>), <a href="#17" class="mim-tip-reference" title="Schleutker, J., Haataja, L., Renlund, M., Puhakka, L., Viitala, J., Peltonen, L., Aula, P. &lt;strong&gt;Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.&lt;/strong&gt; Hum. Genet. 88: 95-97, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1959930/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1959930&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00204936&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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>
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<a id="seeAlso" class="mim-anchor"></a>
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<a href="#Aula1980" class="mim-tip-reference" title="Aula, P., Autio, S. &lt;strong&gt;Salla disease. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.&lt;/strong&gt; New York: Academic Press (pub.) 1980. Pp. 677-679.">Aula and Autio (1980)</a>; <a href="#Cameron1990" class="mim-tip-reference" title="Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H. &lt;strong&gt;Sialic acid storage disease.&lt;/strong&gt; Arch. Dis. Child. 65: 314-315, 1990.">Cameron et al. (1990)</a>; <a href="#Cooper1988" class="mim-tip-reference" title="Cooper, A., Sardharwalla, I. B., Thornley, M., Ward, K. P. &lt;strong&gt;Infantile sialic acid storage disease in two siblings.&lt;/strong&gt; J. Inherit. Metab. Dis. 11 (suppl. 2): 259-262, 1988.">Cooper et al. (1988)</a>; <a href="#Paschke1986" class="mim-tip-reference" title="Paschke, E., Trinkl, G., Erwa, W., Pavelka, M., Mutz, I., Roscher, A. &lt;strong&gt;Infantile type of sialic acid storage disease with sialuria.&lt;/strong&gt; Clin. Genet. 29: 417-424, 1986.">Paschke et al. (1986)</a>; <a href="#Sperl1990" class="mim-tip-reference" title="Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F. M., Paschke, E. &lt;strong&gt;Nephrosis in two siblings with infantile sialic acid storage disease.&lt;/strong&gt; Europ. J. Pediat. 149: 477-482, 1990.">Sperl et al. (1990)</a>; <a href="#Strecker1985" class="mim-tip-reference" title="Strecker, G. &lt;strong&gt;Les maladies genetiques du metabolisme de l&#x27;acide N-acetylneuraminique: sialuries et sialidoses.&lt;/strong&gt; C. R. Seances Soc. Biol. Fil. 179: 567-576, 1985.">Strecker (1985)</a>
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<a id="Aula1980" class="mim-anchor"></a>
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Aula, P., Autio, S.
<strong>Salla disease. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 677-679.
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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://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>]
[<a href="https://doi.org/10.1007/BF00283373" target="_blank">Full Text</a>]
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Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B.
<strong>Infantile sialic acid storage disease: biochemical studies.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320580107" target="_blank">Full Text</a>]
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<a id="Blom1990" class="mim-anchor"></a>
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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>
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[<a href="https://doi.org/10.1042/bj2680621" target="_blank">Full Text</a>]
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<a id="Cameron1990" class="mim-anchor"></a>
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Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H.
<strong>Sialic acid storage disease.</strong>
Arch. Dis. Child. 65: 314-315, 1990.
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[<a href="https://doi.org/10.1136/adc.65.3.314" target="_blank">Full Text</a>]
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<a id="Cooper1988" class="mim-anchor"></a>
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Cooper, A., Sardharwalla, I. B., Thornley, M., Ward, K. P.
<strong>Infantile sialic acid storage disease in two siblings.</strong>
J. Inherit. Metab. Dis. 11 (suppl. 2): 259-262, 1988.
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[<a href="https://doi.org/10.1007/BF01804252" target="_blank">Full Text</a>]
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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.
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Hancock, L. W., Horwitz, A. L., Dawson, G.
<strong>N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetyl-neuraminic acid storage disease.</strong>
Biochim. Biophys. Acta 760: 42-52, 1983.
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[<a href="https://doi.org/10.1016/0304-4165(83)90122-8" target="_blank">Full Text</a>]
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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>
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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 id="Lake1989" class="mim-anchor"></a>
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Lake, B. D., Young, E. P., Nicolaides, K.
<strong>Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.</strong>
J. Inherit. Metab. Dis. 12: 152-156, 1989.
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[<a href="https://doi.org/10.1007/BF01800718" target="_blank">Full Text</a>]
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<a id="Lefebvre1999" class="mim-anchor"></a>
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Lefebvre, G., Wehbe, G., Heron, D., Vauthier Brouzes, D.
<strong>Choukroun, J. B.; Darbois, Y.: Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.</strong>
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<a id="Lemyre1999" class="mim-anchor"></a>
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Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M.
<strong>Clinical spectrum of infantile free sialic acid storage disease.</strong>
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<a id="Mancini1991" class="mim-anchor"></a>
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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>
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[<a href="https://doi.org/10.1172/JCI115136" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Mancini, G. M. S., Hu, P., Verheijen, F. W., van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Beemer, F. A., Jennekens, F. G. I.
<strong>Salla disease variant in a Dutch patient: potential value of polymorphonuclear leucocytes for heterozygote detection.</strong>
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[<a href="https://doi.org/10.1007/BF01957729" target="_blank">Full Text</a>]
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<a id="Mancini1986" class="mim-anchor"></a>
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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.
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[<a href="https://doi.org/10.1007/BF00401229" target="_blank">Full Text</a>]
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<a id="Paschke1986" class="mim-anchor"></a>
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Paschke, E., Trinkl, G., Erwa, W., Pavelka, M., Mutz, I., Roscher, A.
<strong>Infantile type of sialic acid storage disease with sialuria.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00514.x" target="_blank">Full Text</a>]
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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.
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[<a href="https://doi.org/10.1007/BF00204936" target="_blank">Full Text</a>]
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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>
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[<a href="https://doi.org/10.1006/geno.1995.1044" target="_blank">Full Text</a>]
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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.
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Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F. M., Paschke, E.
<strong>Nephrosis in two siblings with infantile sialic acid storage disease.</strong>
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[<a href="https://doi.org/10.1007/BF01959399" target="_blank">Full Text</a>]
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Stevenson, R. E., Lubinsky, M., Taylor, H. A., Wenger, D. A., Schroer, R. J., Olmstead, P. M.
<strong>Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.</strong>
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Stevenson, R. E., Taylor, H. A., Schroer, R. J.
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Strecker, G.
<strong>Les maladies genetiques du metabolisme de l'acide N-acetylneuraminique: sialuries et sialidoses.</strong>
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Thomas, G. H., Scocca, J., Libert, J., Vamos, E., Miller, C. S., Reynolds, L. W.
<strong>Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.</strong>
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[<a href="https://doi.org/10.1203/00006450-198305000-00001" target="_blank">Full Text</a>]
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Thomas, G. H., Scocca, J., Miller, C. S., Reynolds, L.
<strong>Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03197.x" target="_blank">Full Text</a>]
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Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G.
<strong>Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.</strong>
Europ. J. Pediat. 139: 142-147, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7151835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7151835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00441499" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
<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.
<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://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>]
[<a href="https://doi.org/10.1038/70585" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 1/14/2000
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Victor A. McKusick - updated : 12/15/1999<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Ada Hamosh - updated : 4/9/1999<br>Moyra Smith - updated : 12/31/1996<br>Orest Hurko - updated : 9/24/1995
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Victor A. McKusick : 6/4/1986
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carol : 01/12/2024
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carol : 01/10/2024<br>joanna : 05/24/2017<br>carol : 01/06/2014<br>carol : 7/22/2010<br>wwang : 9/14/2006<br>mcapotos : 2/1/2000<br>terry : 1/14/2000<br>mgross : 12/27/1999<br>mgross : 12/27/1999<br>terry : 12/15/1999<br>terry : 12/15/1999<br>alopez : 12/14/1999<br>alopez : 11/30/1999<br>terry : 11/30/1999<br>carol : 10/7/1999<br>mgross : 6/14/1999<br>mgross : 6/9/1999<br>carol : 6/7/1999<br>terry : 6/2/1999<br>alopez : 5/21/1999<br>carol : 4/27/1999<br>mgross : 4/27/1999<br>terry : 4/22/1999<br>alopez : 4/9/1999<br>alopez : 4/9/1999<br>alopez : 2/9/1998<br>mark : 12/31/1996<br>terry : 11/17/1995<br>mark : 8/22/1995<br>carol : 12/7/1994<br>jason : 6/15/1994<br>warfield : 4/20/1994
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<h3>
<span class="mim-font">
<strong>#</strong> 269920
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<span class="mim-font">
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
SIALURIA, INFANTILE FORM<br />
N-ACETYLNEURAMINIC ACID STORAGE DISEASE<br />
NANA STORAGE DISEASE; NSD
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<strong>SNOMEDCT:</strong> 34566007; &nbsp;
<strong>ORPHA:</strong> 309324, 834; &nbsp;
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
6q13
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Sialic acid storage disorder, infantile
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269920
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Autosomal recessive
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3
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SLC17A5
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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 infantile sialic acid storage disease (ISSD) is caused by homozygous or compound heterozygous mutation in the SLC17A5 gene (604322) on chromosome 6q13.</p><p>Salla disease (604369) is an allelic disorder.</p>
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<strong>Description</strong>
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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 mental retardation; 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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<strong>Clinical Features</strong>
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<p>Infantile sialic storage disease was described by Tondeur et al. (1982) and studied by Thomas et al. (1983). The infant son and daughter of unrelated Yugoslav parents reported by Tondeur et al. (1982) had a much more severe clinical course than that in Salla disease (604369). The sibs showed coarse facies, hepatosplenomegaly, prominent psychomotor retardation, and unexpectedly fair complexion. Electron microscopy showed generalized lysosomal storage of a polysaccharide-like material. Biochemical analyses of urine and cultured fibroblasts showed increased levels of unbound (free) sialic acid. Although both sibs were alive at the time of report, the eldest was said to be in a terminal stage at age 4.5 years. Aneurysmal dilatation of capillaries in the bulbar conjunctiva had appeared at age 3. He had been normal at birth except for an inguinal hernia which was repaired at age 1 week; developmental abnormality was first noted at age 5 months and was progressive thereafter. Thomas et al. (1983) found that unstained and unfixed, cultured fibroblasts showed, by phase microscopy, many vacuolated structures resembling a honeycomb. Electron microscopy, following fixation, showed that the honeycombing resulted from numerous, closely packed, cytoplasmic membrane-bound vacuoles. Biochemical studies of crude sonicate showed the presence at levels 4 to 7 times normal of an acid-soluble substance with the characteristics of sialic acid. Quantitative studies showed 39.8 nmoles of free sialic acid per mg protein as compared with the normal of 1 to 2 nmoles per mg. Bound sialic acid levels were at the upper limit of normal. After incubation of the fibroblasts with tritiated N-acetyl-mannosamine there was a 7-fold increase (over the normal) in radioactivity of free sialic acid with no increase in labeled, bound sialic acid. </p><p>Stevenson et al. (1982) reported a case of sialuria with infantile onset and severe manifestations. Free sialic acid was elevated in urine, serum and cellular cytosol.</p><p>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. The amount of free sialic acid in the urine was about 20 times higher than the 15- to 30-fold increase in patients with Salla disease. </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. </p><p>In 3 patients with different forms of N-acetylneuraminic acid (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>Thomas et al. (1989) demonstrated striking cellular differences between the original French patient with sialuria (269921) and patients such as those reported by Hancock et al. (1983), Stevenson et al. (1983), and Tondeur et al. (1982) with infantile sialic acid storage disease. Whereas phase microscopy and immunochemical studies showed abnormal storage within intracellular inclusions in ISSD cells, Thomas et al. (1989) found no morphologic evidence of storage within any subcellular organelle in the French sialuria cells. Moreover, comparative subcellular fractionation studies on gradients of colloidal silica showed the excess sialic acid in ISSD cells to be located within the light (buoyant) lysosomal fraction, whereas the excessive, free sialic acid in the sialuria cells was found in the cytoplasmic fraction with no increased storage within the lysosomal fractions. Salla disease, which occurs predominantly in the Finnish population, is also a form of sialuria. Thomas (1989) suggested that Salla disease and ISSD may both be caused by a defect in transmembrane transport in the lysosome, leading to lysosomal storage of free sialic acid. Unlike Salla disease, ISSD has no particular ethnic prevalence; it presents with severe visceral involvement, dysostosis multiplex, psychomotor retardation, and early death. </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. 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>Mancini et al. (1992) described a 10-year-old boy with free sialic acid storage disease. An unusual feature was slight corneal clouding. They noted that the patient's polymorphonuclear leukocytes showed a 10- to 30-fold increase in sialic acid content and that the values were slightly increased in the parents; they suggested that this was a means of identifying heterozygotes. </p><p>Studies of tissues from a 3-month-old baby who died with the diagnosis of ISSD permitted Berra et al. (1995) to confirm the lysosomal nature of the disease by electron microscopy. They showed that the amount of free and total sialic acid was markedly increased and confirmed that only acid monosaccharide transport from the lysosome compartment is involved in the pathogenesis of ISSD. </p><p>Lemyre et al. (1999) reported 3 new cases of ISSD and reviewed the literature regarding 24 additional cases. Each of the 3 new cases presented differently: the first with nephrotic syndrome, the second with fetal and neonatal ascites, and the third with fetal ascites and esophageal atresia type III. Coarse facies, fair complexion, hepatosplenomegaly, and severe psychomotor retardation were constant findings. Nephrotic syndrome occurred in 4 of 7 cases in which renal studies were performed. Fetal/neonatal ascites was the mode of presentation in 13 of 21 (60%) cases; Lemyre et al. (1999) suggested that ISSD should enter the differential diagnosis of hydrops fetalis with storage disease phenotype. Cardiomegaly was seen in 9 of 12 cases. Corneas were always clear, and 5 of 7 cases had albinoid fundi. Dysostosis multiplex was not prominent. Bone marrow aspiration was negative in 3 of 9 cases. Death usually occurred in infancy (range 1 month to 3.3 years, n = 20, mean 13.1 months); all reported deaths were caused by respiratory infection. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
In a twin pregnancy of a mother who had had a previous child who died at the age of 17 months of infantile sialic acid storage disease, Lake et al. (1989) found by microscopic and biochemical analysis of chorionic villus sampling from both twins that 1 was affected. Selective feticide was performed. The unaffected twin completed the pregnancy uneventfully. </p><p>Recurrent nonimmune hydrops fetalis as a presentation of sialic acid storage disease was documented by Lefebvre et al. (1999). Hydrops fetalis was diagnosed in 2 fetuses on second-trimester ultrasonography. The diagnosis of sialic acid storage disorder was based on high levels of free sialic acid in amniotic fluid and fetal cell cultures and by specific histologic features on fetopathologic examination. Sections through placental villi showing numerous empty vacuoles in the cytoplasm of both trophoblastic and Hofbauer cells were illustrated, as well as liver sections showing cytoplasmic vacuoles in the hepatocytes, and sections showing changes in the cytoplasm of the podocytes of the renal glomeruli. </p>
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<strong>Mapping</strong>
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<p>Haataja et al. (1994) localized the Salla disease locus to chromosome 6q. Similarities in biochemical findings suggested to Schleutker et al. (1995) that Salla disease and ISSD 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 with the Finnish type of Salla disease, the 'intermediate' form of the disease, or the infantile form of sialic acid storage disease. 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 which 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>
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<span class="mim-font">
<strong>Inheritance</strong>
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<span class="mim-text-font">
<p>The transmission pattern of ISSD in the families reported by Verheijen et al. (1999) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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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>
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<strong>History</strong>
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<p>Using DNA polymorphisms (RFLPs) of 2 genes encoding lysosomal membrane proteins, LAMPA (153330) and LAMPB (309060), Schleutker et al. (1991) could demonstrate no linkage with the Salla disease phenotype, thus excluding these as candidate genes. </p>
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<span class="mim-font">
<strong>See Also:</strong>
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<span class="mim-text-font">
Aula and Autio (1980); Cameron et al. (1990); Cooper et al. (1988);
Paschke et al. (1986); Sperl et al. (1990); Strecker (1985)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Aula, P., Autio, S.
<strong>Salla disease. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 677-679.
</p>
</li>
<li>
<p class="mim-text-font">
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: 4043964]
[Full Text: https://doi.org/10.1007/BF00283373]
</p>
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<li>
<p class="mim-text-font">
Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B.
<strong>Infantile sialic acid storage disease: biochemical studies.</strong>
Am. J. Med. Genet. 58: 24-31, 1995.
[PubMed: 7573152]
[Full Text: https://doi.org/10.1002/ajmg.1320580107]
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<li>
<p class="mim-text-font">
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: 2363700]
[Full Text: https://doi.org/10.1042/bj2680621]
</p>
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<li>
<p class="mim-text-font">
Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H.
<strong>Sialic acid storage disease.</strong>
Arch. Dis. Child. 65: 314-315, 1990.
[PubMed: 2334213]
[Full Text: https://doi.org/10.1136/adc.65.3.314]
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<li>
<p class="mim-text-font">
Cooper, A., Sardharwalla, I. B., Thornley, M., Ward, K. P.
<strong>Infantile sialic acid storage disease in two siblings.</strong>
J. Inherit. Metab. Dis. 11 (suppl. 2): 259-262, 1988.
[PubMed: 3141716]
[Full Text: https://doi.org/10.1007/BF01804252]
</p>
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<li>
<p class="mim-text-font">
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: 8198127]
</p>
</li>
<li>
<p class="mim-text-font">
Hancock, L. W., Horwitz, A. L., Dawson, G.
<strong>N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetyl-neuraminic acid storage disease.</strong>
Biochim. Biophys. Acta 760: 42-52, 1983.
[PubMed: 6615884]
[Full Text: https://doi.org/10.1016/0304-4165(83)90122-8]
</p>
</li>
<li>
<p class="mim-text-font">
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: 7057193]
[Full Text: https://doi.org/10.1111/j.1471-4159.1982.tb08701.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lake, B. D., Young, E. P., Nicolaides, K.
<strong>Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy.</strong>
J. Inherit. Metab. Dis. 12: 152-156, 1989.
[PubMed: 2502674]
[Full Text: https://doi.org/10.1007/BF01800718]
</p>
</li>
<li>
<p class="mim-text-font">
Lefebvre, G., Wehbe, G., Heron, D., Vauthier Brouzes, D.
<strong>Choukroun, J. B.; Darbois, Y.: Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.</strong>
Genet. Counsel. 10: 277-284, 1999.
[PubMed: 10546100]
</p>
</li>
<li>
<p class="mim-text-font">
Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M.
<strong>Clinical spectrum of infantile free sialic acid storage disease.</strong>
Am. J. Med. Genet. 82: 385-391, 1999.
[PubMed: 10069709]
</p>
</li>
<li>
<p class="mim-text-font">
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: 2010546]
[Full Text: https://doi.org/10.1172/JCI115136]
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<li>
<p class="mim-text-font">
Mancini, G. M. S., Hu, P., Verheijen, F. W., van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Beemer, F. A., Jennekens, F. G. I.
<strong>Salla disease variant in a Dutch patient: potential value of polymorphonuclear leucocytes for heterozygote detection.</strong>
Europ. J. Pediat. 151: 590-595, 1992.
[PubMed: 1505579]
[Full Text: https://doi.org/10.1007/BF01957729]
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<li>
<p class="mim-text-font">
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: 3733077]
[Full Text: https://doi.org/10.1007/BF00401229]
</p>
</li>
<li>
<p class="mim-text-font">
Paschke, E., Trinkl, G., Erwa, W., Pavelka, M., Mutz, I., Roscher, A.
<strong>Infantile type of sialic acid storage disease with sialuria.</strong>
Clin. Genet. 29: 417-424, 1986.
[PubMed: 3742847]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00514.x]
</p>
</li>
<li>
<p class="mim-text-font">
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: 1959930]
[Full Text: https://doi.org/10.1007/BF00204936]
</p>
</li>
<li>
<p class="mim-text-font">
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: 7557994]
[Full Text: https://doi.org/10.1006/geno.1995.1044]
</p>
</li>
<li>
<p class="mim-text-font">
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: 7573051]
</p>
</li>
<li>
<p class="mim-text-font">
Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F. M., Paschke, E.
<strong>Nephrosis in two siblings with infantile sialic acid storage disease.</strong>
Europ. J. Pediat. 149: 477-482, 1990.
[PubMed: 2347341]
[Full Text: https://doi.org/10.1007/BF01959399]
</p>
</li>
<li>
<p class="mim-text-font">
Stevenson, R. E., Lubinsky, M., Taylor, H. A., Wenger, D. A., Schroer, R. J., Olmstead, P. M.
<strong>Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.</strong>
Pediatrics 72: 441-449, 1983.
[PubMed: 6889058]
</p>
</li>
<li>
<p class="mim-text-font">
Stevenson, R. E., Taylor, H. A., Schroer, R. J.
<strong>Sialuria--clinical and laboratory features of a severe infantile form.</strong>
Proc. Greenwood Genet. Center 1: 73-78, 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Strecker, G.
<strong>Les maladies genetiques du metabolisme de l&#x27;acide N-acetylneuraminique: sialuries et sialidoses.</strong>
C. R. Seances Soc. Biol. Fil. 179: 567-576, 1985.
[PubMed: 2938684]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, G. H., Scocca, J., Libert, J., Vamos, E., Miller, C. S., Reynolds, L. W.
<strong>Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder.</strong>
Pediat. Res. 17: 307-312, 1983.
[PubMed: 6856393]
[Full Text: https://doi.org/10.1203/00006450-198305000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, G. H., Scocca, J., Miller, C. S., Reynolds, L.
<strong>Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.</strong>
Clin. Genet. 36: 242-249, 1989.
[PubMed: 2553307]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03197.x]
</p>
</li>
<li>
<p class="mim-text-font">
Thomas, G. H.
<strong>Personal Communication.</strong>
Baltimore, Md. 11/19/1989.
</p>
</li>
<li>
<p class="mim-text-font">
Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G.
<strong>Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.</strong>
Europ. J. Pediat. 139: 142-147, 1982.
[PubMed: 7151835]
[Full Text: https://doi.org/10.1007/BF00441499]
</p>
</li>
<li>
<p class="mim-text-font">
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: 10581036]
[Full Text: https://doi.org/10.1038/70585]
</p>
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Victor A. McKusick - updated : 1/14/2000<br>Victor A. McKusick - updated : 12/15/1999<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Ada Hamosh - updated : 4/9/1999<br>Moyra Smith - updated : 12/31/1996<br>Orest Hurko - updated : 9/24/1995
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