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- #620151 - WOLMAN DISEASE; WOLD
- OMIM
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<span class="h4">#620151</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/620151"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS278000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=WOLMAN 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>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK305870/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:14497" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<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> 82500001<br />
<strong>ICD10CM:</strong> E75.5<br />
<strong>DO:</strong> 14497<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
620151
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
WOLMAN DISEASE; WOLD
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
LYSOSOMAL ACID LIPASE DEFICIENCY, ACUTE INFANTILE<br />
LYSOSOMAL ACID LIPASE DEFICIENCY, COMPLETE<br />
LIPA DEFICIENCY, COMPLETE<br />
LAL DEFICIENCY, COMPLETE<br />
CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/379?start=-3&limit=10&highlight=379">
10q23.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Wolman disease
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620151"> 620151 </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">
LIPA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613497"> 613497 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/620151" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS278000" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/620151" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/620151" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> 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> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abdominal distension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Liver fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br /> -
Liver failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59927004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K72.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span><br /> -
Infiltration by lipid-filled Kupffer cells seen on liver biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830224</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 /> -
Spleen foamy lipid droplets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830783</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Feeding intolerance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1820738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1820738</a>]</span><br /> -
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
Steatorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27868004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27868004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66187002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66187002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span><br /> -
Cholesterol ester and triglyceride accumulation seen on small intestine biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829512</a>]</span><br /> -
Infiltration of foamy macrophages in lamina propria seen on small intestine biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830225</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">
- Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Adrenal calcification <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12286000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12286000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271750</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010512</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010512</a>]</span><br /> -
Enlarged adrenal gland <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237782001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237782001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342499</a>]</span><br /> -
Adrenal insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386584007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386584007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237785004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237785004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/255.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">255.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0405580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0405580</a>, <a href="https://bioportal.bioontology.org/search?q=C0001623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001623</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000846</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008207</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000846</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Lysosomal acid lipase (LAL) deficiency in fibroblasts, leukocytes, and amniocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829513</a>]</span><br /> -
Increased total cholesterol <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br /> -
Increased LDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003141</a>]</span><br /> -
Decreased HDL cholesterol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003233</a>]</span><br /> -
Increased triglycerides <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302870006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302870006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166848004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166848004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020557</a>, <a href="https://bioportal.bioontology.org/search?q=C0813230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002155</a>]</span><br /> -
Elevated serum transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438717</a>, <a href="https://bioportal.bioontology.org/search?q=C0859350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0859350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Early-onset fulminant disorder of infancy with death in early life<br /> -
No residual LAL activity<br /> -
Age of onset, 1-3 months<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the lysosomal acid lipase gene (LIPA, <a href="/entry/613497#0001">613497.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Lysosomal acid lipase deficiency
- <a href="/phenotypicSeries/PS278000">PS278000</a>
- 2 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
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<a href="/geneMap/10/379?start=-3&limit=10&highlight=379"> 10q23.31 </a>
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<a href="/entry/620151"> Wolman disease </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/620151"> 620151 </a>
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<a href="/entry/613497"> LIPA </a>
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<a href="/entry/613497"> 613497 </a>
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<a href="/geneMap/10/379?start=-3&limit=10&highlight=379"> 10q23.31 </a>
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<a href="/entry/278000"> Cholesteryl ester storage disease </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/278000"> 278000 </a>
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<a href="/entry/613497"> LIPA </a>
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<a href="/entry/613497"> 613497 </a>
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<p>A number sign (#) is used with this entry because Wolman disease (WOLD) is caused by homozygous or compound heterozygous mutation in the LIPA gene (<a href="/entry/613497">613497</a>) on chromosome 10q23.</p><p>Cholesteryl ester storage disease (CESD; <a href="/entry/278000">278000</a>), a milder lysosomal acid lipase deficiency, is also caused by mutation in the LIPA gene.</p>
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<strong>Description</strong>
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<p>Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD) and cholesteryl ester storage disease (CESD; <a href="/entry/278000">278000</a>). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by <a href="#13" class="mim-tip-reference" title="Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A. &lt;strong&gt;Enzyme therapy for lysosomal acid lipase deficiency in the mouse.&lt;/strong&gt; Hum. Molec. Genet. 10: 1639-1648, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11487567/&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;11487567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.16.1639&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="11487567">Du et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11487567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Wolman, M., Sterk, V. V., Gatt, S., Frenkel, M. &lt;strong&gt;Primary family xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant.&lt;/strong&gt; Pediatrics 28: 742-757, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14008104/&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;14008104&lt;/a&gt;]" pmid="14008104">Wolman et al. (1961)</a> described 3 sibs, born of Persian Jewish cousins, in whom involvement of the viscera was an important feature and death occurred at the age of about 3 months. Xanthomatous changes were observed in the liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs, and thymus, and slight changes were found in the skin, retina, and central nervous system. The adrenals were calcified. Death was thought to be due to intestinal malabsorption resulting from involvement of the gut. The parents, Persian Jews, were cousins. Lipids in the plasma were normal or moderately elevated. Several features suggested that the entity is distinct from hypercholesterolemia and the hyperlipidemias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14008104" 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>Three cases, the first from the United States, were reported by <a href="#11" class="mim-tip-reference" title="Crocker, A. C., Vawter, G. F., Neuhauser, E. B. D., Rosowsky, A. &lt;strong&gt;Wolman&#x27;s disease: three new patients with a recently described lipidosis.&lt;/strong&gt; Pediatrics 35: 627-640, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14269714/&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;14269714&lt;/a&gt;]" pmid="14269714">Crocker et al. (1965)</a>, who gave no information on ethnicity. They noted that the relatively nonspecific clinical picture includes poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death by nutritional failure by 2 to 4 months of age. Foam cells are found in bone marrow and vacuolated lymphocytes in peripheral blood, as in Niemann-Pick disease (<a href="/entry/257200">257200</a>). Diffuse punctate calcification of the adrenals is typical. Disseminated foam cell infiltration is found in many organs. Great increases in cholesterol are found in the organs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14269714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Konno, T., Fujii, M., Watanuki, T., Koizumi, K. &lt;strong&gt;Wolman&#x27;s disease: the first case in Japan.&lt;/strong&gt; Tohoku J. Exp. Med. 90: 375-389, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5972796/&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;5972796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1620/tjem.90.375&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="5972796">Konno et al. (1966)</a> reported a Japanese family with 3 affected sibs. <a href="#28" class="mim-tip-reference" title="Spiegel-Adolf, M., Baird, H. W., McCafferty, M. &lt;strong&gt;Hematologic studies in Niemann-Pick and Wolman&#x27;s disease (cytology and electrophoresis).&lt;/strong&gt; Confin. Neurol. 28: 399-406, 1966."None>Spiegel-Adolf et al. (1966)</a> reported 3 affected sibs in an American family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5972796" 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="Lough, J., Fawcett, J. F., Wiegensberg, B. &lt;strong&gt;Wolman&#x27;s disease: an electron microscopic, histochemical, and biochemical study.&lt;/strong&gt; Arch. Path. 89: 103-110, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5412920/&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;5412920&lt;/a&gt;]" pmid="5412920">Lough et al. (1970)</a> described an affected infant of Greek ancestry in whom calcified adrenals were demonstrated on the fifth day of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5412920" 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="Eto, Y., Kitagawa, T. &lt;strong&gt;Wolman&#x27;s disease with hypolipoproteinemia and acanthocytosis: clinical and biochemical observations.&lt;/strong&gt; J. Pediat. 77: 862-867, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5504079/&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;5504079&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80248-7&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="5504079">Eto and Kitagawa (1970)</a> described a 9-month-old girl with characteristic features of Wolman disease accompanied by malabsorption of lipid, hypolipoproteinemia, and acanthocytosis. Lipid analysis of various tissues revealed excessive accumulation of triglyceride within liver cells, with involvement of spleen, central nervous tissue, and other organs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5504079" 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="Roytta, M., Fagerlund, A. S., Toikkanen, S., Salmi, T. T., Jorde, L. B., Forsius, H. R., Eriksson, A. W. &lt;strong&gt;Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.&lt;/strong&gt; Clin. Genet. 42: 1-7, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1516222/&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;1516222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03125.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="1516222">Roytta et al. (1992)</a> reported the case of an affected 1-month-old girl on the Aland Islands, the first published Scandinavian example of Wolman disease. Skin biopsy showed cytoplasmic accumulations identical to those noted in 2 Aland Islander sibs who died at the age of about 3 months during the 1950s. Genealogic analyses showed that the 2 families had ancestors from the same restricted area as well as common ancestors during the 17th century. The parents of the 2 affected sibs were born on a small island and were related to each other 'in many different ways.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1516222" 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="#16" class="mim-tip-reference" title="Jones, S. A., Valayannopoulos, V., Schneider, E., Eckert, S., Banikazemi, M., Bialer, M., Cederbaum, S., Chan, A., Dhawan, A., Di Rocco, M., Domm, J., Enns, G. M., and 10 others. &lt;strong&gt;Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.&lt;/strong&gt; Genet. Med. 18: 452-458, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26312827/&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;26312827&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26312827[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2015.108&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="26312827">Jones et al. (2016)</a> reviewed the records of 35 patients with lysosomal lipase deficiency, 26 of whom had early growth failure. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% CI, 0.009-0.220). Among patients with early growth failure, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI, 0.000-0.112). Treated patients (9 with hematopoietic stem cell transplant (HSCT), 1 with HSCT and liver transplant) in the overall population and the early growth failure subset survived longer than untreated patients, but survival was still poor, with a median age of death of 8.6 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26312827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Patrick, A. D., Lake, B. D. &lt;strong&gt;Deficiency of an acid lipase in Wolman&#x27;s disease.&lt;/strong&gt; Nature 222: 1067-1068, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5787090/&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;5787090&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/2221067a0&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="5787090">Patrick and Lake (1969)</a> demonstrated deficiency of an acid lipase (cholesteryl ester hydrolase) which apparently leads to the progressive accumulation of triglycerides and cholesterol esters in lysosomes in the tissues of patients with Wolman disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5787090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Burton, B. K., Reed, S. P. &lt;strong&gt;Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.&lt;/strong&gt; Am. J. Hum. Genet. 33: 203-208, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6782865/&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;6782865&lt;/a&gt;]" pmid="6782865">Burton and Reed (1981)</a> demonstrated material crossreacting with antibodies to acid lipase in fibroblasts of 3 patients with Wolman disease and 3 with cholesterol ester storage disease. Quantitation of the CRM showed normal levels in both cell types. Enzyme activity was reduced about 200-fold in Wolman disease fibroblasts and 50- to 100-fold in cholesterol ester storage disease cells. Cholesterol ester storage disease was proposed to be a disorder allelic to Wolman disease (<a href="#4" class="mim-tip-reference" title="Assmann, G., Fredrickson, D. S. &lt;strong&gt;Acid lipase deficiency (Wolman&#x27;s disease and cholesteryl ester storage disease). In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): Metabolic Basis of Inherited Disease. (5th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 1983. Pp. 803-819."None>Assmann and Fredrickson, 1983</a>). Supporting the allelic nature of Wolman and cholesteryl ester storage disease is the occurrence of possible genetic compounds, i.e., cases of intermediate severity (<a href="#27" class="mim-tip-reference" title="Schmitz, G., Assmann, G. &lt;strong&gt;Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 1989. Pp. 1623-1644."None>Schmitz and Assmann, 1989</a>). In both Wolman disease and cholesteryl ester storage disease, <a href="#8" class="mim-tip-reference" title="Chatterjee, S., Castiglione, E., Kwiterovich, P. O., Jr., Hoeg, J. M., Brewer, H. B. &lt;strong&gt;Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.&lt;/strong&gt; Clin. Genet. 29: 360-368, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3742843/&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;3742843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb00505.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="3742843">Chatterjee et al. (1986)</a> demonstrated that renal tubular cells shed in the urine are laden with cholesteryl esters and triacylglycerol and that LIPA is lacking in these cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6782865+3742843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of WOLD in the family reported by <a href="#29" class="mim-tip-reference" title="Wolman, M., Sterk, V. V., Gatt, S., Frenkel, M. &lt;strong&gt;Primary family xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant.&lt;/strong&gt; Pediatrics 28: 742-757, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14008104/&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;14008104&lt;/a&gt;]" pmid="14008104">Wolman et al. (1961)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14008104" 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>Population Genetics</strong>
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<p><a href="#1" class="mim-tip-reference" title="Aguisanda, F., Thorne, N., Zheng, W. &lt;strong&gt;Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development.&lt;/strong&gt; Curr. Chem. Genomics Transl. Med. 11: 1-18, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28401034/&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;28401034&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28401034[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2174/2213988501711010001&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="28401034">Aguisanda et al. (2017)</a> stated that the estimated incidence rate for Wolman disease is less than 1/100,000 births; for CESD, it is 2.5/100,000 births. Wolman disease occurs more frequently in Iranian-Jewish populations (1/4,200 births). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28401034" 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>Molecular Genetics</strong>
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<p>In a proband with Wolman disease, the child of unrelated parents, <a href="#2" class="mim-tip-reference" title="Anderson, R. A., Byrum, R. S., Coates, P. M., Sando, G. N. &lt;strong&gt;Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 91: 2718-2722, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8146180/&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;8146180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.91.7.2718&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="8146180">Anderson et al. (1994)</a> found compound heterozygosity for mutations in the LIPA gene, a 1-bp insertion (<a href="/entry/613497#0004">613497.0004</a>) and a missense mutation (L179P; <a href="/entry/613497#0001">613497.0001</a>). The proband had 2 older affected sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8146180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G. &lt;strong&gt;Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.&lt;/strong&gt; Genomics 33: 85-93, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8617513/&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;8617513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0162&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="8617513">Aslanidis et al. (1996)</a> reported mutations in 1 patient with cholesteryl ester storage disease and 2 patients with Wolman disease and demonstrated that the functionally relevant genetic difference between the phenotypes is that the splice site mutation detected in the Wolman disease patient (<a href="/entry/613497#0005">613497.0005</a>) permitted no correct splicing, whereas the defect observed in a CESD patient (<a href="/entry/613497#0002">613497.0002</a>) allowed some correct splicing (3% of total mRNA), and therefore the synthesis of functional enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant, born of unrelated parents, with Wolman disease, <a href="#21" class="mim-tip-reference" title="Lee, T. M., Welsh, M., Benhamed, S., Chung, W. K. &lt;strong&gt;Intragenic deletion as a novel type of mutation in Wolman disease.&lt;/strong&gt; Molec. Genet. Metab. 104: 703-705, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21963785/&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;21963785&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2011.09.006&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="21963785">Lee et al. (2011)</a> identified compound heterozygosity for a truncating mutation in the LIPA gene (<a href="/entry/613497#0007">613497.0007</a>) and an intragenic deletion of the LIPA gene. The patient presented at age 6 weeks with abdominal distention and failure to thrive. He had hepatosplenomegaly and calcified adrenals; LIPA activity was undetectable. He died of multiorgan failure within the following month. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21963785" 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="animalModel" class="mim-anchor"></a>
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<strong>Animal Model</strong>
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<p><a href="#30" class="mim-tip-reference" title="Yoshida, H., Kuriyama, M. &lt;strong&gt;Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.&lt;/strong&gt; Lab. Anim. Sci. 40: 486-489, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2170747/&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;2170747&lt;/a&gt;]" pmid="2170747">Yoshida and Kuriyama (1990)</a> described lysosomal acid lipase deficiency in rats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2170747" 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="Du, H., Duanmu, M., Witte, D., Grabowski, G. A. &lt;strong&gt;Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.&lt;/strong&gt; Hum. Molec. Genet. 7: 1347-1354, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9700186/&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;9700186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/7.9.1347&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="9700186">Du et al. (1998)</a> produced a mouse model of lysosomal acid lipase deficiency by a null mutation produced by targeting disruption of the mouse gene. Homozygous knockout mice produced no Lip1 mRNA, protein, or enzyme activity. The homozygous deficient mice were born in mendelian ratios, were normal appearing at birth, and followed normal development into adulthood. However, massive accumulation of triglycerides and cholesteryl esters occurred in several organs. By 21 days, the liver developed a yellow-orange color and was up to 2 times larger than normal. The accumulated cholesteryl esters and triglycerides were approximately 30-fold greater than normal. The heterozygous mice had approximately 50% of normal enzyme activity and did not show lipid accumulation. Male and female homozygous deficient mice were fertile and could be bred to produce progeny. This mouse model is the phenotypic model of human CESD and a biochemical and histopathologic mimic of human Wolman disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700186" 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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<strong>See Also:</strong>
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<a href="#Burton2015" class="mim-tip-reference" title="Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others. &lt;strong&gt;A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.&lt;/strong&gt; New Eng. J. Med. 373: 1010-1020, 2015.">Burton et al. (2015)</a>; <a href="#Byrd1979" class="mim-tip-reference" title="Byrd, J. C., III, Powers, J. M. &lt;strong&gt;Wolman&#x27;s disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems.&lt;/strong&gt; Acta Neuropath. 45: 37-42, 1979.">Byrd and Powers (1979)</a>; <a href="#Christomanou1981" class="mim-tip-reference" title="Christomanou, H., Cap, C. &lt;strong&gt;Prenatal monitoring for Wolman&#x27;s disease in a pregnancy at risk: first case in the Federal Republic of Germany.&lt;/strong&gt; Hum. Genet. 57: 440-441, 1981.">Christomanou and Cap
(1981)</a>; <a href="#Coates1978" class="mim-tip-reference" title="Coates, P. M., Cortner, J. A., Mennuti, M. T., Wheeler, J. E. &lt;strong&gt;Prenatal diagnosis of Wolman disease.&lt;/strong&gt; Am. J. Med. Genet. 2: 397-407, 1978.">Coates et al. (1978)</a>; <a href="#Hoeg1984" class="mim-tip-reference" title="Hoeg, J. M., Demosky, S. J., Jr., Pescovitz, O. H., Brewer, H. B., Jr. &lt;strong&gt;Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 36: 1190-1203, 1984.">Hoeg et al. (1984)</a>; <a href="#Kahana1968" class="mim-tip-reference" title="Kahana, D., Berant, M., Wolman, M. &lt;strong&gt;Primary familial xanthomatosis with adrenal involvement (Wolman&#x27;s disease): report of a further case with nervous system involvement and pathogenetic considerations.&lt;/strong&gt; Pediatrics 42: 70-76, 1968.">Kahana et al.
(1968)</a>; <a href="#Lake1970" class="mim-tip-reference" title="Lake, B. D., Patrick, A. D. &lt;strong&gt;Wolman&#x27;s disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.&lt;/strong&gt; J. Pediat. 76: 262-266, 1970.">Lake and Patrick (1970)</a>; <a href="#Lake1971" class="mim-tip-reference" title="Lake, B. D. &lt;strong&gt;Histochemical detection of the enzyme deficiency in blood films in Wolman&#x27;s disease.&lt;/strong&gt; J. Clin. Path. 24: 617-620, 1971.">Lake (1971)</a>; <a href="#Marshall1969" class="mim-tip-reference" title="Marshall, W. C., Ockenden, B. G., Fosbrooke, A. S., Cumings, J. N. &lt;strong&gt;Wolman&#x27;s disease: a rare lipidosis with adrenal calcification.&lt;/strong&gt; Arch. Dis. Child. 44: 331-341, 1969.">Marshall et al. (1969)</a>; <a href="#Schaub1980" class="mim-tip-reference" title="Schaub, J., Janka, G. E., Christomanou, H., Sandhoff, K., Permanetter, W., Hubner, G., Meister, P. &lt;strong&gt;Wolman&#x27;s disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.&lt;/strong&gt; Europ. J. Pediat. 135: 45-53, 1980.">Schaub et al. (1980)</a>; <a href="#Young1970" class="mim-tip-reference" title="Young, E. P., Patrick, A. D. &lt;strong&gt;Deficiency of acid esterase activity in Wolman&#x27;s disease.&lt;/strong&gt; Arch. Dis. Child. 45: 664-668, 1970.">Young and Patrick (1970)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Aguisanda2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aguisanda, F., Thorne, N., Zheng, W.
<strong>Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development.</strong>
Curr. Chem. Genomics Transl. Med. 11: 1-18, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28401034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28401034</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28401034[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28401034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2174/2213988501711010001" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Anderson1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Anderson, R. A., Byrum, R. S., Coates, P. M., Sando, G. N.
<strong>Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.</strong>
Proc. Nat. Acad. Sci. 91: 2718-2722, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8146180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8146180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8146180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.91.7.2718" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Aslanidis1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G.
<strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong>
Genomics 33: 85-93, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1996.0162" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Assmann1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Assmann, G., Fredrickson, D. S.
<strong>Acid lipase deficiency (Wolman's disease and cholesteryl ester storage disease). In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): Metabolic Basis of Inherited Disease. (5th ed.)</strong>
New York: McGraw-Hill (pub.) 1983. Pp. 803-819.
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Burton2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others.
<strong>A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.</strong>
New Eng. J. Med. 373: 1010-1020, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26352813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26352813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26352813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa1501365" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Burton1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burton, B. K., Reed, S. P.
<strong>Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.</strong>
Am. J. Hum. Genet. 33: 203-208, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6782865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Byrd1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Byrd, J. C., III, Powers, J. M.
<strong>Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems.</strong>
Acta Neuropath. 45: 37-42, 1979.
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[<a href="https://doi.org/10.1007/BF00691802" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00505.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00281702" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320020409" target="_blank">Full Text</a>]
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Crocker, A. C., Vawter, G. F., Neuhauser, E. B. D., Rosowsky, A.
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[<a href="https://doi.org/10.1093/hmg/7.9.1347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.16.1639" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(70)80248-7" target="_blank">Full Text</a>]
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Hoeg, J. M., Demosky, S. J., Jr., Pescovitz, O. H., Brewer, H. B., Jr.
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[<a href="https://doi.org/10.1038/gim.2015.108" target="_blank">Full Text</a>]
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Kahana, D., Berant, M., Wolman, M.
<strong>Primary familial xanthomatosis with adrenal involvement (Wolman's disease): report of a further case with nervous system involvement and pathogenetic considerations.</strong>
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Konno, T., Fujii, M., Watanuki, T., Koizumi, K.
<strong>Wolman's disease: the first case in Japan.</strong>
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[<a href="https://doi.org/10.1620/tjem.90.375" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Lake, B. D., Patrick, A. D.
<strong>Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.</strong>
J. Pediat. 76: 262-266, 1970.
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[<a href="https://doi.org/10.1016/s0022-3476(70)80172-x" target="_blank">Full Text</a>]
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Lake, B. D.
<strong>Histochemical detection of the enzyme deficiency in blood films in Wolman's disease.</strong>
J. Clin. Path. 24: 617-620, 1971.
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[<a href="https://doi.org/10.1136/jcp.24.7.617" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Lee, T. M., Welsh, M., Benhamed, S., Chung, W. K.
<strong>Intragenic deletion as a novel type of mutation in Wolman disease.</strong>
Molec. Genet. Metab. 104: 703-705, 2011.
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[<a href="https://doi.org/10.1016/j.ymgme.2011.09.006" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Lough, J., Fawcett, J. F., Wiegensberg, B.
<strong>Wolman's disease: an electron microscopic, histochemical, and biochemical study.</strong>
Arch. Path. 89: 103-110, 1970.
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<a id="Marshall1969" class="mim-anchor"></a>
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<p class="mim-text-font">
Marshall, W. C., Ockenden, B. G., Fosbrooke, A. S., Cumings, J. N.
<strong>Wolman's disease: a rare lipidosis with adrenal calcification.</strong>
Arch. Dis. Child. 44: 331-341, 1969.
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[<a href="https://doi.org/10.1136/adc.44.235.331" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Patrick, A. D., Lake, B. D.
<strong>Deficiency of an acid lipase in Wolman's disease.</strong>
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[<a href="https://doi.org/10.1038/2221067a0" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Roytta, M., Fagerlund, A. S., Toikkanen, S., Salmi, T. T., Jorde, L. B., Forsius, H. R., Eriksson, A. W.
<strong>Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03125.x" target="_blank">Full Text</a>]
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Schaub, J., Janka, G. E., Christomanou, H., Sandhoff, K., Permanetter, W., Hubner, G., Meister, P.
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[<a href="https://doi.org/10.1007/BF00445892" target="_blank">Full Text</a>]
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Schmitz, G., Assmann, G.
<strong>Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)</strong>
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Spiegel-Adolf, M., Baird, H. W., McCafferty, M.
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Wolman, M., Sterk, V. V., Gatt, S., Frenkel, M.
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<div class="">
<p class="mim-text-font">
Young, E. P., Patrick, A. D.
<strong>Deficiency of acid esterase activity in Wolman's disease.</strong>
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[<a href="https://doi.org/10.1136/adc.45.243.664" target="_blank">Full Text</a>]
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Ada Hamosh : 12/06/2022
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carol : 07/28/2023
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carol : 06/05/2023<br>carol : 06/02/2023
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<strong>#</strong> 620151
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<span class="mim-font">
WOLMAN DISEASE; WOLD
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<em>Alternative titles; symbols</em>
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LYSOSOMAL ACID LIPASE DEFICIENCY, ACUTE INFANTILE<br />
LYSOSOMAL ACID LIPASE DEFICIENCY, COMPLETE<br />
LIPA DEFICIENCY, COMPLETE<br />
LAL DEFICIENCY, COMPLETE<br />
CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE
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<strong>SNOMEDCT:</strong> 82500001; &nbsp;
<strong>ICD10CM:</strong> E75.5; &nbsp;
<strong>DO:</strong> 14497; &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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10q23.31
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Wolman disease
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620151
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Autosomal recessive
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3
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LIPA
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613497
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Wolman disease (WOLD) is caused by homozygous or compound heterozygous mutation in the LIPA gene (613497) on chromosome 10q23.</p><p>Cholesteryl ester storage disease (CESD; 278000), a milder lysosomal acid lipase deficiency, is also caused by mutation in the LIPA gene.</p>
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<strong>Description</strong>
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<p>Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD) and cholesteryl ester storage disease (CESD; 278000). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). </p>
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<strong>Clinical Features</strong>
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<p>Wolman et al. (1961) described 3 sibs, born of Persian Jewish cousins, in whom involvement of the viscera was an important feature and death occurred at the age of about 3 months. Xanthomatous changes were observed in the liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs, and thymus, and slight changes were found in the skin, retina, and central nervous system. The adrenals were calcified. Death was thought to be due to intestinal malabsorption resulting from involvement of the gut. The parents, Persian Jews, were cousins. Lipids in the plasma were normal or moderately elevated. Several features suggested that the entity is distinct from hypercholesterolemia and the hyperlipidemias. </p><p>Three cases, the first from the United States, were reported by Crocker et al. (1965), who gave no information on ethnicity. They noted that the relatively nonspecific clinical picture includes poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death by nutritional failure by 2 to 4 months of age. Foam cells are found in bone marrow and vacuolated lymphocytes in peripheral blood, as in Niemann-Pick disease (257200). Diffuse punctate calcification of the adrenals is typical. Disseminated foam cell infiltration is found in many organs. Great increases in cholesterol are found in the organs. </p><p>Konno et al. (1966) reported a Japanese family with 3 affected sibs. Spiegel-Adolf et al. (1966) reported 3 affected sibs in an American family. </p><p>Lough et al. (1970) described an affected infant of Greek ancestry in whom calcified adrenals were demonstrated on the fifth day of life. </p><p>Eto and Kitagawa (1970) described a 9-month-old girl with characteristic features of Wolman disease accompanied by malabsorption of lipid, hypolipoproteinemia, and acanthocytosis. Lipid analysis of various tissues revealed excessive accumulation of triglyceride within liver cells, with involvement of spleen, central nervous tissue, and other organs. </p><p>Roytta et al. (1992) reported the case of an affected 1-month-old girl on the Aland Islands, the first published Scandinavian example of Wolman disease. Skin biopsy showed cytoplasmic accumulations identical to those noted in 2 Aland Islander sibs who died at the age of about 3 months during the 1950s. Genealogic analyses showed that the 2 families had ancestors from the same restricted area as well as common ancestors during the 17th century. The parents of the 2 affected sibs were born on a small island and were related to each other 'in many different ways.' </p><p>Jones et al. (2016) reviewed the records of 35 patients with lysosomal lipase deficiency, 26 of whom had early growth failure. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% CI, 0.009-0.220). Among patients with early growth failure, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI, 0.000-0.112). Treated patients (9 with hematopoietic stem cell transplant (HSCT), 1 with HSCT and liver transplant) in the overall population and the early growth failure subset survived longer than untreated patients, but survival was still poor, with a median age of death of 8.6 months. </p>
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<strong>Biochemical Features</strong>
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<p>Patrick and Lake (1969) demonstrated deficiency of an acid lipase (cholesteryl ester hydrolase) which apparently leads to the progressive accumulation of triglycerides and cholesterol esters in lysosomes in the tissues of patients with Wolman disease. </p><p>Burton and Reed (1981) demonstrated material crossreacting with antibodies to acid lipase in fibroblasts of 3 patients with Wolman disease and 3 with cholesterol ester storage disease. Quantitation of the CRM showed normal levels in both cell types. Enzyme activity was reduced about 200-fold in Wolman disease fibroblasts and 50- to 100-fold in cholesterol ester storage disease cells. Cholesterol ester storage disease was proposed to be a disorder allelic to Wolman disease (Assmann and Fredrickson, 1983). Supporting the allelic nature of Wolman and cholesteryl ester storage disease is the occurrence of possible genetic compounds, i.e., cases of intermediate severity (Schmitz and Assmann, 1989). In both Wolman disease and cholesteryl ester storage disease, Chatterjee et al. (1986) demonstrated that renal tubular cells shed in the urine are laden with cholesteryl esters and triacylglycerol and that LIPA is lacking in these cells. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of WOLD in the family reported by Wolman et al. (1961) was consistent with autosomal recessive inheritance. </p>
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<strong>Population Genetics</strong>
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<p>Aguisanda et al. (2017) stated that the estimated incidence rate for Wolman disease is less than 1/100,000 births; for CESD, it is 2.5/100,000 births. Wolman disease occurs more frequently in Iranian-Jewish populations (1/4,200 births). </p>
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<strong>Molecular Genetics</strong>
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<p>In a proband with Wolman disease, the child of unrelated parents, Anderson et al. (1994) found compound heterozygosity for mutations in the LIPA gene, a 1-bp insertion (613497.0004) and a missense mutation (L179P; 613497.0001). The proband had 2 older affected sibs. </p><p>Aslanidis et al. (1996) reported mutations in 1 patient with cholesteryl ester storage disease and 2 patients with Wolman disease and demonstrated that the functionally relevant genetic difference between the phenotypes is that the splice site mutation detected in the Wolman disease patient (613497.0005) permitted no correct splicing, whereas the defect observed in a CESD patient (613497.0002) allowed some correct splicing (3% of total mRNA), and therefore the synthesis of functional enzyme. </p><p>In an infant, born of unrelated parents, with Wolman disease, Lee et al. (2011) identified compound heterozygosity for a truncating mutation in the LIPA gene (613497.0007) and an intragenic deletion of the LIPA gene. The patient presented at age 6 weeks with abdominal distention and failure to thrive. He had hepatosplenomegaly and calcified adrenals; LIPA activity was undetectable. He died of multiorgan failure within the following month. </p>
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<strong>Animal Model</strong>
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<p>Yoshida and Kuriyama (1990) described lysosomal acid lipase deficiency in rats. </p><p>Du et al. (1998) produced a mouse model of lysosomal acid lipase deficiency by a null mutation produced by targeting disruption of the mouse gene. Homozygous knockout mice produced no Lip1 mRNA, protein, or enzyme activity. The homozygous deficient mice were born in mendelian ratios, were normal appearing at birth, and followed normal development into adulthood. However, massive accumulation of triglycerides and cholesteryl esters occurred in several organs. By 21 days, the liver developed a yellow-orange color and was up to 2 times larger than normal. The accumulated cholesteryl esters and triglycerides were approximately 30-fold greater than normal. The heterozygous mice had approximately 50% of normal enzyme activity and did not show lipid accumulation. Male and female homozygous deficient mice were fertile and could be bred to produce progeny. This mouse model is the phenotypic model of human CESD and a biochemical and histopathologic mimic of human Wolman disease. </p>
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<strong>See Also:</strong>
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Burton et al. (2015); Byrd and Powers (1979); Christomanou and Cap
(1981); Coates et al. (1978); Hoeg et al. (1984); Kahana et al.
(1968); Lake and Patrick (1970); Lake (1971); Marshall et al. (1969);
Schaub et al. (1980); Young and Patrick (1970)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Aguisanda, F., Thorne, N., Zheng, W.
<strong>Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development.</strong>
Curr. Chem. Genomics Transl. Med. 11: 1-18, 2017.
[PubMed: 28401034]
[Full Text: https://doi.org/10.2174/2213988501711010001]
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<p class="mim-text-font">
Anderson, R. A., Byrum, R. S., Coates, P. M., Sando, G. N.
<strong>Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.</strong>
Proc. Nat. Acad. Sci. 91: 2718-2722, 1994.
[PubMed: 8146180]
[Full Text: https://doi.org/10.1073/pnas.91.7.2718]
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<p class="mim-text-font">
Aslanidis, C., Ries, S., Fehringer, P., Buchler, C., Klima, H., Schmitz, G.
<strong>Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.</strong>
Genomics 33: 85-93, 1996.
[PubMed: 8617513]
[Full Text: https://doi.org/10.1006/geno.1996.0162]
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<p class="mim-text-font">
Assmann, G., Fredrickson, D. S.
<strong>Acid lipase deficiency (Wolman&#x27;s disease and cholesteryl ester storage disease). In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): Metabolic Basis of Inherited Disease. (5th ed.)</strong>
New York: McGraw-Hill (pub.) 1983. Pp. 803-819.
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<p class="mim-text-font">
Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., and 19 others.
<strong>A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency.</strong>
New Eng. J. Med. 373: 1010-1020, 2015.
[PubMed: 26352813]
[Full Text: https://doi.org/10.1056/NEJMoa1501365]
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Burton, B. K., Reed, S. P.
<strong>Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.</strong>
Am. J. Hum. Genet. 33: 203-208, 1981.
[PubMed: 6782865]
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<p class="mim-text-font">
Byrd, J. C., III, Powers, J. M.
<strong>Wolman&#x27;s disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems.</strong>
Acta Neuropath. 45: 37-42, 1979.
[PubMed: 216225]
[Full Text: https://doi.org/10.1007/BF00691802]
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<p class="mim-text-font">
Chatterjee, S., Castiglione, E., Kwiterovich, P. O., Jr., Hoeg, J. M., Brewer, H. B.
<strong>Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.</strong>
Clin. Genet. 29: 360-368, 1986.
[PubMed: 3742843]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00505.x]
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<p class="mim-text-font">
Christomanou, H., Cap, C.
<strong>Prenatal monitoring for Wolman&#x27;s disease in a pregnancy at risk: first case in the Federal Republic of Germany.</strong>
Hum. Genet. 57: 440-441, 1981.
[PubMed: 7286988]
[Full Text: https://doi.org/10.1007/BF00281702]
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Coates, P. M., Cortner, J. A., Mennuti, M. T., Wheeler, J. E.
<strong>Prenatal diagnosis of Wolman disease.</strong>
Am. J. Med. Genet. 2: 397-407, 1978.
[PubMed: 122435]
[Full Text: https://doi.org/10.1002/ajmg.1320020409]
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<p class="mim-text-font">
Crocker, A. C., Vawter, G. F., Neuhauser, E. B. D., Rosowsky, A.
<strong>Wolman&#x27;s disease: three new patients with a recently described lipidosis.</strong>
Pediatrics 35: 627-640, 1965.
[PubMed: 14269714]
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<li>
<p class="mim-text-font">
Du, H., Duanmu, M., Witte, D., Grabowski, G. A.
<strong>Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.</strong>
Hum. Molec. Genet. 7: 1347-1354, 1998.
[PubMed: 9700186]
[Full Text: https://doi.org/10.1093/hmg/7.9.1347]
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<p class="mim-text-font">
Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A.
<strong>Enzyme therapy for lysosomal acid lipase deficiency in the mouse.</strong>
Hum. Molec. Genet. 10: 1639-1648, 2001.
[PubMed: 11487567]
[Full Text: https://doi.org/10.1093/hmg/10.16.1639]
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<li>
<p class="mim-text-font">
Eto, Y., Kitagawa, T.
<strong>Wolman&#x27;s disease with hypolipoproteinemia and acanthocytosis: clinical and biochemical observations.</strong>
J. Pediat. 77: 862-867, 1970.
[PubMed: 5504079]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80248-7]
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<li>
<p class="mim-text-font">
Hoeg, J. M., Demosky, S. J., Jr., Pescovitz, O. H., Brewer, H. B., Jr.
<strong>Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.</strong>
Am. J. Hum. Genet. 36: 1190-1203, 1984.
[PubMed: 6097111]
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<li>
<p class="mim-text-font">
Jones, S. A., Valayannopoulos, V., Schneider, E., Eckert, S., Banikazemi, M., Bialer, M., Cederbaum, S., Chan, A., Dhawan, A., Di Rocco, M., Domm, J., Enns, G. M., and 10 others.
<strong>Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.</strong>
Genet. Med. 18: 452-458, 2016.
[PubMed: 26312827]
[Full Text: https://doi.org/10.1038/gim.2015.108]
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Kahana, D., Berant, M., Wolman, M.
<strong>Primary familial xanthomatosis with adrenal involvement (Wolman&#x27;s disease): report of a further case with nervous system involvement and pathogenetic considerations.</strong>
Pediatrics 42: 70-76, 1968.
[PubMed: 5657698]
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Konno, T., Fujii, M., Watanuki, T., Koizumi, K.
<strong>Wolman&#x27;s disease: the first case in Japan.</strong>
Tohoku J. Exp. Med. 90: 375-389, 1966.
[PubMed: 5972796]
[Full Text: https://doi.org/10.1620/tjem.90.375]
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<li>
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Lake, B. D., Patrick, A. D.
<strong>Wolman&#x27;s disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.</strong>
J. Pediat. 76: 262-266, 1970.
[PubMed: 5410174]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80172-x]
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<li>
<p class="mim-text-font">
Lake, B. D.
<strong>Histochemical detection of the enzyme deficiency in blood films in Wolman&#x27;s disease.</strong>
J. Clin. Path. 24: 617-620, 1971.
[PubMed: 5118828]
[Full Text: https://doi.org/10.1136/jcp.24.7.617]
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<li>
<p class="mim-text-font">
Lee, T. M., Welsh, M., Benhamed, S., Chung, W. K.
<strong>Intragenic deletion as a novel type of mutation in Wolman disease.</strong>
Molec. Genet. Metab. 104: 703-705, 2011.
[PubMed: 21963785]
[Full Text: https://doi.org/10.1016/j.ymgme.2011.09.006]
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<li>
<p class="mim-text-font">
Lough, J., Fawcett, J. F., Wiegensberg, B.
<strong>Wolman&#x27;s disease: an electron microscopic, histochemical, and biochemical study.</strong>
Arch. Path. 89: 103-110, 1970.
[PubMed: 5412920]
</p>
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<li>
<p class="mim-text-font">
Marshall, W. C., Ockenden, B. G., Fosbrooke, A. S., Cumings, J. N.
<strong>Wolman&#x27;s disease: a rare lipidosis with adrenal calcification.</strong>
Arch. Dis. Child. 44: 331-341, 1969.
[PubMed: 5785183]
[Full Text: https://doi.org/10.1136/adc.44.235.331]
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<li>
<p class="mim-text-font">
Patrick, A. D., Lake, B. D.
<strong>Deficiency of an acid lipase in Wolman&#x27;s disease.</strong>
Nature 222: 1067-1068, 1969.
[PubMed: 5787090]
[Full Text: https://doi.org/10.1038/2221067a0]
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<li>
<p class="mim-text-font">
Roytta, M., Fagerlund, A. S., Toikkanen, S., Salmi, T. T., Jorde, L. B., Forsius, H. R., Eriksson, A. W.
<strong>Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.</strong>
Clin. Genet. 42: 1-7, 1992.
[PubMed: 1516222]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03125.x]
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<li>
<p class="mim-text-font">
Schaub, J., Janka, G. E., Christomanou, H., Sandhoff, K., Permanetter, W., Hubner, G., Meister, P.
<strong>Wolman&#x27;s disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.</strong>
Europ. J. Pediat. 135: 45-53, 1980.
[PubMed: 7449788]
[Full Text: https://doi.org/10.1007/BF00445892]
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<li>
<p class="mim-text-font">
Schmitz, G., Assmann, G.
<strong>Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. (6th ed.)</strong>
New York: McGraw-Hill (pub.) 1989. Pp. 1623-1644.
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<li>
<p class="mim-text-font">
Spiegel-Adolf, M., Baird, H. W., McCafferty, M.
<strong>Hematologic studies in Niemann-Pick and Wolman&#x27;s disease (cytology and electrophoresis).</strong>
Confin. Neurol. 28: 399-406, 1966.
</p>
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<li>
<p class="mim-text-font">
Wolman, M., Sterk, V. V., Gatt, S., Frenkel, M.
<strong>Primary family xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant.</strong>
Pediatrics 28: 742-757, 1961.
[PubMed: 14008104]
</p>
</li>
<li>
<p class="mim-text-font">
Yoshida, H., Kuriyama, M.
<strong>Genetic lipid storage disease with lysosomal acid lipase deficiency in rats.</strong>
Lab. Anim. Sci. 40: 486-489, 1990.
[PubMed: 2170747]
</p>
</li>
<li>
<p class="mim-text-font">
Young, E. P., Patrick, A. D.
<strong>Deficiency of acid esterase activity in Wolman&#x27;s disease.</strong>
Arch. Dis. Child. 45: 664-668, 1970.
[PubMed: 5477680]
[Full Text: https://doi.org/10.1136/adc.45.243.664]
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carol : 07/28/2023<br>carol : 06/05/2023<br>carol : 06/02/2023
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