3455 lines
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Entry
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- #228000 - FARBER LIPOGRANULOMATOSIS; FRBRL
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- OMIM
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<p>
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<span class="h4">#228000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/228000"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01969&isoform_id=01969_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=FARBER LIPOGRANULOMATOSIS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK488189/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2789" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=228000[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=333" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/9816e7e3-7243-472c-9ce2-52d34317a2ac/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050464" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/228000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050464" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:228000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 79935000<br />
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<strong>ORPHA:</strong> 333<br />
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<strong>DO:</strong> 0050464<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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228000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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FARBER LIPOGRANULOMATOSIS; FRBRL
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</span>
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</h3>
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</div>
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<div>
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<br />
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|
</div>
|
|
|
|
|
|
<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">
|
|
FARBER DISEASE<br />
|
|
CERAMIDASE DEFICIENCY<br />
|
|
ACID CERAMIDASE DEFICIENCY<br />
|
|
AC DEFICIENCY<br />
|
|
N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
|
|
</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/8/83?start=-3&limit=10&highlight=83">
|
|
8p22
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Farber lipogranulomatosis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/228000"> 228000 </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">
|
|
ASAH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613468"> 613468 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/228000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/228000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/228000" 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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macular cherry-red spots (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2216370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2216370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010729</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Larynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Laryngeal nodules <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86423004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86423004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238232</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> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4085641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085641</a>, <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
|
|
Arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3723001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3723001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003864</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001369</a>]</span><br /> -
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Peripheral osteolysis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562946</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Lipogranulomatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416439000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416439000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/703711007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">703711007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699537002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36279001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36279001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878675</a>, <a href="https://bioportal.bioontology.org/search?q=C1704214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1704214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040139</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040139</a>]</span><br /> -
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Periarticular subcutaneous nodules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806306</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007470</a>]</span><br /> -
|
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Nodule show lipid-laden macrophages <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806307</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br /> -
|
|
Motor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>, <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Mental retardation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> VOICE </strong>
|
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</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hoarse cry due to laryngeal involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001615" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001615</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Elevated urine ceramide levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806304</a>]</span><br /> -
|
|
Histiocytic infiltration of liver, spleen, and lungs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806305</a>]</span><br /> -
|
|
Ceramidase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79935000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79935000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268255</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or first years of life<br /> -
|
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Early death (in some patients)<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the N-acylsphingosine amidohydrolase 1 gene (ASAH1, <a href="/entry/613468#0001">613468.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that Farber lipogranulomatosis (FRBRL) is caused by homozygous or compound heterozygous mutation in the gene encoding acid ceramidase (ASAH1; <a href="/entry/613468">613468</a>) on chromosome 8p22.</p>
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<p>Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by <a href="#2" class="mim-tip-reference" title="Alves, M. Q., Le Trionnaire, E., Ribeiro, I., Carpentier, S., Harzer, K., Levade, T., Ribeiro, M. G. <strong>Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.</strong> Molec. Genet. Metab. 109: 276-281, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23707712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23707712</a>] [<a href="https://doi.org/10.1016/j.ymgme.2013.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23707712">Alves et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23707712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the few reported cases of Farber disease, manifestations appeared in the first few weeks of life and consisted of irritability, hoarse cry, and nodular, erythematous swellings of the wrists and other sites, particularly those subject to trauma. Severe motor and mental retardation was evident. Death occurred by 2 years of age. The histologic appearance was granulomatous. In the nervous system, both neurons and glial cells were swollen with stored material characteristic of nonsulfonated acid mucopolysaccharide (<a href="#1" class="mim-tip-reference" title="Abul-Haj, S. K., Martz, D. G., Douglas, W. F., Geppert, L. J. <strong>Farber's disease: report of a case with observations on its histiogenesis and notes on the nature of the stored material.</strong> J. Pediat. 61: 221-232, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13859108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13859108</a>] [<a href="https://doi.org/10.1016/s0022-3476(62)80257-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13859108">Abul-Haj et al., 1962</a>). Parental consanguinity had not been identified. However, in 1 case parents had the same family name in ancestors, and 2 of 3 families seen at Children's Hospital, Boston, were of Portuguese extraction. The family with 2 affected sibs had father from the Azores Islands and mother from the Madeira Islands. The parents of the other family were both born in the Azores (<a href="#11" class="mim-tip-reference" title="Crocker, A. C., Cohen, J., Farber, S. <strong>The 'lipogranulomatosis' syndrome: review, with report of patient showing mild involvement. In: Aronson, S. M.; Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism.</strong> Oxford: Pergamon Press (pub.) 1967. Pp. 485-503."None>Crocker et al., 1967</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13859108" 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="#10" class="mim-tip-reference" title="Clausen, J., Rampini, S. <strong>Chemical studies of Farber's disease.</strong> Acta Neurol. Scand. 46: 313-322, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5535909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5535909</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1970.tb05795.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5535909">Clausen and Rampini (1970)</a> proposed that an enzymatic defect in glycolipid degradation is the basic fault. <a href="#22" class="mim-tip-reference" title="Sugita, M., Dulaney, J. T., Moser, H. W. <strong>Ceramidase deficiency in Farber's disease (lipogranulomatosis).</strong> Science 178: 1100-1102, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4678225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4678225</a>] [<a href="https://doi.org/10.1126/science.178.4065.1100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4678225">Sugita et al. (1972)</a> suggested that the basic defect is a deficiency of acid ceramidase (AC), also called N-acylsphingosine amidohydrolase (ASAH), which normally catalyzes the synthesis and degradation of ceramide. No activity of this enzyme could be demonstrated in kidney and cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5535909+4678225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A., Qualman, S. J., Zinkham, W. H. <strong>Phenotypic variability in siblings with Farber disease.</strong> J. Pediat. 104: 406-409, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6423791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6423791</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)81106-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6423791">Antonarakis et al. (1984)</a> described 2 sibs, a 12-week-old girl with classic severe features (subcutaneous periarticular nodules, hoarse cry, failure to thrive, and respiratory insufficiency) and a 10-week-old boy, who presented earlier, with clinical features suggestive of malignant histiocytosis. They died at 6 months and at 12 weeks, respectively. The girl also had hepatosplenomegaly, a relatively unusual feature of Farber disease; of 27 reported cases, 7 had hepatomegaly and 1 had splenomegaly. Thus, Farber disease should be considered in infants with seeming malignant histiocytosis. Because of the 25% recurrence risk and ability to make prenatal diagnosis, assay of ceramidase is important in such cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6423791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Pellissier, J. F., Berard-Badier, M., Pinsard, N. <strong>Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.</strong> Acta Neuropath. 72: 178-188, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3103372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3103372</a>] [<a href="https://doi.org/10.1007/BF00685981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3103372">Pellissier et al. (1986)</a> studied 2 severely affected sibs born of consanguineous Tunisian parents. Involvement of both the central and peripheral nervous system was documented. Macular cherry red spots were observed in 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3103372" 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="Moser, H. W., Moser, A. B., Chen, W. W., Schram, A. W. <strong>Ceramidase deficiency: Farber lipogranulomatosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. Vol. II (6th ed.)</strong> New York: McGraw-Hill (pub.) 1989. Pp. 1645-1654."None>Moser et al. (1989)</a> identified 5 types of Farber lipogranulomatosis. In the classic type 1, the diagnosis can be made almost at a glance by the triad of subcutaneous nodules, arthritis, and laryngeal involvement. When 1 aspect is missing, the possibility of juvenile rheumatoid arthritis, multicentric reticulohistiocytosis, or juvenile hyaline fibromatosis (<a href="/entry/228600">228600</a>) may be entertained, but ceramidase levels are normal in all of these conditions. Patients with types 2 and 3 survive longer. Liver and lung appear not to be involved. Normal intelligence in many of these patients and the postmortem findings suggest that brain involvement is limited or missing entirely. <a href="#18" class="mim-tip-reference" title="Moser, H. W., Moser, A. B., Chen, W. W., Schram, A. W. <strong>Ceramidase deficiency: Farber lipogranulomatosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic Basis of Inherited Disease. Vol. II (6th ed.)</strong> New York: McGraw-Hill (pub.) 1989. Pp. 1645-1654."None>Moser et al. (1989)</a> stated that several patients with type 3 were 'in relatively stable condition near the end of the second decade.' Type 4 patients present with hepatosplenomegaly and severe debility in the neonatal period and all die before 6 months of age. Massive histiocytic infiltration of liver, spleen, lungs, thymus, and lymphocytes is found at autopsy.</p><p><a href="#4" class="mim-tip-reference" title="Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A., Qualman, S. J., Zinkham, W. H. <strong>Phenotypic variability in siblings with Farber disease.</strong> J. Pediat. 104: 406-409, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6423791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6423791</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)81106-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6423791">Antonarakis et al. (1984)</a> reported patients with severe type 4 lipogranulomatosis. Their case 1 had not been recognized even after postmortem study, and the diagnosis of Farber disease was considered only in retrospect when subcutaneous nodules were noted in a subsequently born sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6423791" 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>Type 5 lipogranulomatosis, described by <a href="#24" class="mim-tip-reference" title="Zarbin, M. A., Green, W. R., Moser, H. W., Morton, S. J. <strong>Farber's disease: light and electron microscopic study of the eye.</strong> Arch. Ophthal. 103: 73-80, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2983648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2983648</a>] [<a href="https://doi.org/10.1001/archopht.1985.01050010077025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2983648">Zarbin et al. (1985)</a> and <a href="#12" class="mim-tip-reference" title="Eviatar, L., Sklower, S. L., Wisniewski, K., Feldman, R. S., Gochoco, A. <strong>Farber lipogranulomatosis: an unusual presentation in a black child.</strong> Pediat. Neurol. 2: 371-374, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2854742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2854742</a>] [<a href="https://doi.org/10.1016/0887-8994(86)90082-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2854742">Eviatar et al. (1986)</a>, is characterized particularly by psychomotor deterioration beginning at age 1 to 2.5 years. The family of <a href="#24" class="mim-tip-reference" title="Zarbin, M. A., Green, W. R., Moser, H. W., Morton, S. J. <strong>Farber's disease: light and electron microscopic study of the eye.</strong> Arch. Ophthal. 103: 73-80, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2983648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2983648</a>] [<a href="https://doi.org/10.1001/archopht.1985.01050010077025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2983648">Zarbin et al. (1985)</a> included 2 affected sisters from a marriage of a Korean national and a Caucasian female; the affected girls may represent a genetic compound. As in the case of <a href="#20" class="mim-tip-reference" title="Pellissier, J. F., Berard-Badier, M., Pinsard, N. <strong>Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.</strong> Acta Neuropath. 72: 178-188, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3103372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3103372</a>] [<a href="https://doi.org/10.1007/BF00685981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3103372">Pellissier et al. (1986)</a>, macular cherry red spots were noted. The patient of <a href="#12" class="mim-tip-reference" title="Eviatar, L., Sklower, S. L., Wisniewski, K., Feldman, R. S., Gochoco, A. <strong>Farber lipogranulomatosis: an unusual presentation in a black child.</strong> Pediat. Neurol. 2: 371-374, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2854742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2854742</a>] [<a href="https://doi.org/10.1016/0887-8994(86)90082-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2854742">Eviatar et al. (1986)</a> was a black child. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3103372+2854742+2983648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Qualman, S. J., Moser, H. W., Valle, D., Moser, A. E., Antonarakis, S. E., Boitnott, J. K., Zinkham, W. H. <strong>Farber disease: pathologic diagnosis in sibs with phenotypic variability.</strong> Am. J. Med. Genet. Suppl. 3: 233-241, 1987."None>Qualman et al. (1987)</a> described a family in which 1 child, a 3-month-old boy, presented with only hepatosplenomegaly and had a fulminant clinical course suggestive of malignant histiocytosis. The second child, a 5.5-month-old girl, had the typical clinical presentation of Farber disease, with hoarseness and painful swollen joints. Visceral involvement was prominent in both, and included a newly described nephropathy with elevated urine ceramide levels. Liver and spleen contained massive histiocytic infiltrates in association with elevated ceramide levels. Lymph nodes also contained histiocytic infiltrates but without the sinusoidal involvement typical of proliferative histiocytic disorders.</p><p><a href="#19" class="mim-tip-reference" title="Nowaczyk, M. J. M., Feigenbaum, A., Silver, M. M., Callahan, J., Levin, A., Jay, V. <strong>Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.</strong> J. Inherit. Metab. Dis. 19: 655-660, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8892023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8892023</a>] [<a href="https://doi.org/10.1007/BF01799842" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8892023">Nowaczyk et al. (1996)</a> described a 16-week-old female infant with the rare type IV Farber lipogranulomatosis featuring hepatosplenomegaly, macular cherry red spot, and subcutaneous nodules. The patient developed liver dysfunction with jaundice and ascites and myelophthisic anemia because of infiltration of the bone marrow with storage cells. Direct assay of skin fibroblasts confirmed the diagnosis of ceramidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8892023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kattner, E., Schafer, A., Harzer, K. <strong>Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.</strong> Europ. J. Pediat. 156: 292-295, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128814</a>] [<a href="https://doi.org/10.1007/s004310050603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128814">Kattner et al. (1997)</a> reported a severe case of Farber lipogranulomatosis presenting as nonimmune hydrops fetalis. Prenatal ultrasound at 26 weeks' gestation showed hydrops fetalis with hepatosplenomegaly. The infant died 3 days after birth. Postmortem examination showed edema and multiple white nodules disseminated throughout the body that consisted of storage macrophages and fibrosis. Splenic tissue showed an accumulation of ceramide, and ceramidase activity was profoundly reduced in patient tissues. The parents were unrelated and a prior pregnancy had resulted in early spontaneous abortion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128814" 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="#8" class="mim-tip-reference" title="Bonafe, L., Kariminejad, A., Li, J., Royer-Bertrand, B., Garcia, V., Mahdavi, S., Bozorgmehr, B., Lachman, R. L., Mittaz-Crettol, L., Compos-Xavier, B., Nampoothiri, S., Unger, S., Rivolta, C., Levade, T., Superti-Furga, A. <strong>Peripheral osteolysis in adults linked to ASAH1 (acid ceramidase) mutations: a new presentation of Farber's disease.</strong> Arthritis Rheum. 68: 2323-2327, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26945816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26945816</a>] [<a href="https://doi.org/10.1002/art.39659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26945816">Bonafe et al. (2016)</a> reported 3 Iranian sibs, aged 40, 58 and 60 years, with severe adult-onset peripheral osteolysis and a history of episodic fever and pain in childhood. The 40-year-old sib had episodes of fever and pain starting at 3 years of age. He also developed subcutaneous nodules on the ears and over the wrist, elbow and knee joints. He also developed hoarseness. The episodes subsided, and he had joint pain starting at age 12 years. At 40 years of age, he had limitation of movement of knee joints and flexion of the toes. His hands and toes were shortened and the skin over his hands was redundant. X-rays showed severe osteolysis of the distal radius, ulna, metacarpal bones, and phalanges. His feet were similarly affected. His 2 older sibs had short hands and redundant skin. They also had hoarseness, episodic pain and fever, and ear nodules in childhood. None of the sibs had neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26945816" 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="#5" class="mim-tip-reference" title="Bao, X., Ma, M., Zhang, Z., Xu, Y., Qui, Z. <strong>Farber disease in a patient from China.</strong> Am. J. Med. Genet. 182A: 2184-2186, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32706452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32706452</a>] [<a href="https://doi.org/10.1002/ajmg.a.61752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32706452">Bao et al. (2020)</a> reported a 25-year-old woman with osteolytic changes in the hands and toes. Nodules were noted on her scalp and paravertebral region when she was 3 months of age and she also had a hoarse voice. Within 4 years, the nodules progressed to her eyelids, ears, hands, wrists, elbows, and knee joints. At 19 years of age, her fingers and toes began to shorten and her skin started to overlap. She also had bilateral flexion contractures and reduced muscle and subcutaneous fat. Hand x-rays showed osteoporosis and severe osteolytic changes in the bilateral phalanges, metacarpi, distal ulnae, and radii. Visualization of the larynx revealed vocal cord thickening with nodules. She had a similarly affected brother, who had severe joint deformities and redundant skin, but who did not undergo genetic testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32706452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Ben-Yoseph, Y., Gagne, R., Parvathy, M. R., Mitchell, D. A., Momoi, T. <strong>Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.</strong> Clin. Genet. 36: 38-42, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2504515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2504515</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03364.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2504515">Ben-Yoseph et al. (1989)</a> used N-laurylsphingosine deacylase as a substrate for studying the usefulness of plasma specimens for diagnosis and carrier detection of Farber disease. This made a highly sensitive assay because the substrate is cleaved by acid ceramidase at a much faster rate than are other substrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2504515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a review of acid ceramidase deficiency, <a href="#23" class="mim-tip-reference" title="Yu, F. B. S., Amintas, S., Levade, T., Medin, J. A. <strong>Acid ceramidase deficiency: Farber disease and SMA-PME.</strong> Orphanet J. Rare Dis. 13: 121, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30029679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30029679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30029679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13023-018-0845-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30029679">Yu et al. (2018)</a> noted that in some patients with Farber disease hematopoietic stem cell transplantation was shown to improve voice hoarseness, subcutaneous nodules, and joint pain, but did not appear to reverse neurologic involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30029679" 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>Farber lipogranulomatosis shows autosomal recessive inheritance (summary by <a href="#2" class="mim-tip-reference" title="Alves, M. Q., Le Trionnaire, E., Ribeiro, I., Carpentier, S., Harzer, K., Levade, T., Ribeiro, M. G. <strong>Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.</strong> Molec. Genet. Metab. 109: 276-281, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23707712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23707712</a>] [<a href="https://doi.org/10.1016/j.ymgme.2013.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23707712">Alves et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23707712" 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>Farber disease is caused by mutations in the ASAH1 gene, which <a href="#17" class="mim-tip-reference" title="Li, C.-M., Park, J.-H., He, X., Levy, B., Chen, F., Arai, K., Adler, D. A., Disteche, C. M., Koch, J., Sandhoff, K., Schuchman, E. H. <strong>The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis and expression.</strong> Genomics 62: 223-231, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610716</a>] [<a href="https://doi.org/10.1006/geno.1999.5940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610716">Li et al. (1999)</a> mapped to chromosome 8p22-p21.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Farber disease, <a href="#16" class="mim-tip-reference" title="Koch, J., Gartner, S., Li, C.-M., Quintern, L. E., Bernardo, K., Levran, O., Schnabel, D., Desnick, R. J., Schuchman, E. H., Sandhoff, K. <strong>Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase: identification of the first molecular lesion causing Farber disease.</strong> J. Biol. Chem. 271: 33110-33115, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8955159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8955159</a>] [<a href="https://doi.org/10.1074/jbc.271.51.33110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8955159">Koch et al. (1996)</a> identified a homoallelic thr222-to-lys (T222K; <a href="/entry/613468#0001">613468.0001</a>) in the ASAH1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8955159" 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="Bar, J., Linke, T., Ferlinz, K., Neumann, U., Schuchman, E. H., Sandhoff, K. <strong>Molecular analysis of acid ceramidase deficiency in patients with Farber disease.</strong> Hum. Mutat. 17: 199-209, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11241842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11241842</a>] [<a href="https://doi.org/10.1002/humu.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11241842">Bar et al. (2001)</a> identified 6 novel mutations in the ASAH1 gene causing Farber disease: 3 point mutations resulting in single amino acid substitutions (see, e.g., <a href="/entry/613468#0003">613468.0003</a>-<a href="/entry/613468#0004">613468.0004</a>), 1 intronic splice site mutation resulting in exon skipping, and 2 point mutations leading to occasional or complete exon skipping. The last 2 mutations occurred in adjacent nucleotides and led to abnormal splicing of the same exon. Metabolic labeling studies in fibroblasts of 4 patients showed that even though acid ceramidase precursor protein was synthesized in these individuals, rapid proteolysis of the mutated, mature acid ceramidase occurred within the lysosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11241842" 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 a patient with severe Farber disease resulting in hydrops fetalis and death at age 3 days (<a href="#15" class="mim-tip-reference" title="Kattner, E., Schafer, A., Harzer, K. <strong>Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.</strong> Europ. J. Pediat. 156: 292-295, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128814</a>] [<a href="https://doi.org/10.1007/s004310050603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128814">Kattner et al., 1997</a>), <a href="#2" class="mim-tip-reference" title="Alves, M. Q., Le Trionnaire, E., Ribeiro, I., Carpentier, S., Harzer, K., Levade, T., Ribeiro, M. G. <strong>Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.</strong> Molec. Genet. Metab. 109: 276-281, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23707712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23707712</a>] [<a href="https://doi.org/10.1016/j.ymgme.2013.04.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23707712">Alves et al. (2013)</a> identified compound heterozygosity for 2 null mutations in the ASAH1 gene (<a href="/entry/613468#0008">613468.0008</a> and <a href="/entry/613468#0009">613468.0009</a>). The severe phenotype correlated with a complete loss of the full-length protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23707712+9128814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Iranian sibs, aged 40, 58 and 60 years, with Farber disease, <a href="#8" class="mim-tip-reference" title="Bonafe, L., Kariminejad, A., Li, J., Royer-Bertrand, B., Garcia, V., Mahdavi, S., Bozorgmehr, B., Lachman, R. L., Mittaz-Crettol, L., Compos-Xavier, B., Nampoothiri, S., Unger, S., Rivolta, C., Levade, T., Superti-Furga, A. <strong>Peripheral osteolysis in adults linked to ASAH1 (acid ceramidase) mutations: a new presentation of Farber's disease.</strong> Arthritis Rheum. 68: 2323-2327, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26945816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26945816</a>] [<a href="https://doi.org/10.1002/art.39659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26945816">Bonafe et al. (2016)</a> identified compound heterozygous mutations in the ASAH1 gene (<a href="/entry/613468#0012">613468.0012</a>-<a href="/entry/613468#0013">613468.0013</a>). The mutations were identified by whole-exome sequencing and segregated with disease in the family. Acid ceramidase enzyme activity in fibroblasts from 2 of the sibs were reduced to 7 to 8% of control levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26945816" 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 a 25-year-old woman with Farber disease, <a href="#5" class="mim-tip-reference" title="Bao, X., Ma, M., Zhang, Z., Xu, Y., Qui, Z. <strong>Farber disease in a patient from China.</strong> Am. J. Med. Genet. 182A: 2184-2186, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32706452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32706452</a>] [<a href="https://doi.org/10.1002/ajmg.a.61752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32706452">Bao et al. (2020)</a> identified compound heterozygous mutations in the ASAH1 gene. The mutations were identified by sequencing of the ASAH1 gene. The patient had osteolytic changes of the hands and toes and a history of nodules since infancy, hoarseness, joint swelling, and bone pain. She had a similarly affected brother who did not undergo genetic testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32706452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Amirhakimi1976" class="mim-tip-reference" title="Amirhakimi, G. H., Haghighi, P., Ghalambor, M. A., Honari, S. <strong>Familial lipogranulomatosis (Farber's disease).</strong> Clin. Genet. 9: 625-630, 1976.">Amirhakimi et al. (1976)</a>; <a href="#Cartigny1985" class="mim-tip-reference" title="Cartigny, B., Libert, J., Fensom, A. H., Martin, J. J., Dhondt, J. L., Wyart, D., Fontaine, G., Farriaux, J. P. <strong>Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease).</strong> J. Inherit. Metab. Dis. 8: 8 only, 1985.">Cartigny et al. (1985)</a>; <a href="#Farber1957" class="mim-tip-reference" title="Farber, S., Cohen, J., Uzman, L. L. <strong>Lipogranulomatosis: a new lipo-glyco-protein 'storage' disease.</strong> J. Mt. Sinai Hosp. 24: 816-837, 1957.">Farber et al.
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(1957)</a>; <a href="#Fensom1979" class="mim-tip-reference" title="Fensom, A. H., Benson, P. F., Neville, B. R. G., Moser, H. W., Moser, A. E., Dulaney, J. T. <strong>Prenatal diagnosis of Farber's disease.</strong> Lancet 314: 990-992, 1979. Note: Originally Volume II.">Fensom et al. (1979)</a>
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Abul-Haj, S. K., Martz, D. G., Douglas, W. F., Geppert, L. J.
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<strong>Farber's disease: report of a case with observations on its histiogenesis and notes on the nature of the stored material.</strong>
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J. Pediat. 61: 221-232, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13859108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13859108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13859108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(62)80257-1" target="_blank">Full Text</a>]
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Alves, M. Q., Le Trionnaire, E., Ribeiro, I., Carpentier, S., Harzer, K., Levade, T., Ribeiro, M. G.
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Molec. Genet. Metab. 109: 276-281, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23707712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23707712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23707712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01624.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61752" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/art.39659" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Sugita, M., Dulaney, J. T., Moser, H. W.
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<strong>Ceramidase deficiency in Farber's disease (lipogranulomatosis).</strong>
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Science 178: 1100-1102, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4678225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4678225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4678225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.178.4065.1100" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Yu2018" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yu, F. B. S., Amintas, S., Levade, T., Medin, J. A.
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<strong>Acid ceramidase deficiency: Farber disease and SMA-PME.</strong>
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Orphanet J. Rare Dis. 13: 121, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30029679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30029679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30029679[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=30029679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13023-018-0845-z" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Zarbin1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zarbin, M. A., Green, W. R., Moser, H. W., Morton, S. J.
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<strong>Farber's disease: light and electron microscopic study of the eye.</strong>
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Arch. Ophthal. 103: 73-80, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2983648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2983648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2983648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.1985.01050010077025" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 10/04/2021
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/16/2013<br>Marla J. F. O'Neill - updated : 12/13/2006<br>Ada Hamosh - updated : 9/22/2003<br>Victor A. McKusick - updated : 3/13/2001<br>Joanna S. Amberger - updated : 4/12/2000<br>Victor A. McKusick - updated : 4/3/1997<br>Victor A. McKusick - updated : 4/1/1997<br>Victor A. McKusick - updated : 3/6/1997
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 10/04/2021
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carol : 02/12/2020<br>carol : 02/11/2020<br>alopez : 09/13/2016<br>carol : 07/09/2016<br>carol : 7/13/2015<br>carol : 7/17/2013<br>ckniffin : 7/16/2013<br>mgross : 7/2/2010<br>mgross : 7/2/2010<br>terry : 2/26/2009<br>wwang : 12/18/2006<br>terry : 12/13/2006<br>terry : 4/21/2005<br>carol : 3/17/2004<br>alopez : 9/22/2003<br>terry : 2/8/2002<br>cwells : 5/2/2001<br>carol : 3/20/2001<br>cwells : 3/19/2001<br>terry : 3/13/2001<br>carol : 4/12/2000<br>joanna : 2/23/2000<br>dkim : 12/16/1998<br>terry : 10/2/1997<br>terry : 10/2/1997<br>terry : 7/9/1997<br>mark : 6/10/1997<br>jenny : 4/3/1997<br>jenny : 4/1/1997<br>terry : 3/27/1997<br>jenny : 3/11/1997<br>jenny : 3/6/1997<br>terry : 2/13/1997<br>davew : 8/19/1994<br>terry : 7/15/1994<br>mimadm : 4/8/1994<br>warfield : 3/8/1994<br>carol : 11/12/1993<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>#</strong> 228000
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<h3>
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FARBER LIPOGRANULOMATOSIS; FRBRL
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<em>Alternative titles; symbols</em>
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FARBER DISEASE<br />
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CERAMIDASE DEFICIENCY<br />
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ACID CERAMIDASE DEFICIENCY<br />
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AC DEFICIENCY<br />
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N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
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<strong>SNOMEDCT:</strong> 79935000;
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<strong>ORPHA:</strong> 333;
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<strong>DO:</strong> 0050464;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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<span class="mim-font">
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8p22
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<span class="mim-font">
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Farber lipogranulomatosis
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<span class="mim-font">
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228000
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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ASAH1
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613468
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Farber lipogranulomatosis (FRBRL) is caused by homozygous or compound heterozygous mutation in the gene encoding acid ceramidase (ASAH1; 613468) on chromosome 8p22.</p>
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<strong>Description</strong>
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<p>Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). </p>
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<strong>Clinical Features</strong>
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<p>In the few reported cases of Farber disease, manifestations appeared in the first few weeks of life and consisted of irritability, hoarse cry, and nodular, erythematous swellings of the wrists and other sites, particularly those subject to trauma. Severe motor and mental retardation was evident. Death occurred by 2 years of age. The histologic appearance was granulomatous. In the nervous system, both neurons and glial cells were swollen with stored material characteristic of nonsulfonated acid mucopolysaccharide (Abul-Haj et al., 1962). Parental consanguinity had not been identified. However, in 1 case parents had the same family name in ancestors, and 2 of 3 families seen at Children's Hospital, Boston, were of Portuguese extraction. The family with 2 affected sibs had father from the Azores Islands and mother from the Madeira Islands. The parents of the other family were both born in the Azores (Crocker et al., 1967). </p><p>Clausen and Rampini (1970) proposed that an enzymatic defect in glycolipid degradation is the basic fault. Sugita et al. (1972) suggested that the basic defect is a deficiency of acid ceramidase (AC), also called N-acylsphingosine amidohydrolase (ASAH), which normally catalyzes the synthesis and degradation of ceramide. No activity of this enzyme could be demonstrated in kidney and cerebellum. </p><p>Antonarakis et al. (1984) described 2 sibs, a 12-week-old girl with classic severe features (subcutaneous periarticular nodules, hoarse cry, failure to thrive, and respiratory insufficiency) and a 10-week-old boy, who presented earlier, with clinical features suggestive of malignant histiocytosis. They died at 6 months and at 12 weeks, respectively. The girl also had hepatosplenomegaly, a relatively unusual feature of Farber disease; of 27 reported cases, 7 had hepatomegaly and 1 had splenomegaly. Thus, Farber disease should be considered in infants with seeming malignant histiocytosis. Because of the 25% recurrence risk and ability to make prenatal diagnosis, assay of ceramidase is important in such cases. </p><p>Pellissier et al. (1986) studied 2 severely affected sibs born of consanguineous Tunisian parents. Involvement of both the central and peripheral nervous system was documented. Macular cherry red spots were observed in 1. </p><p>Moser et al. (1989) identified 5 types of Farber lipogranulomatosis. In the classic type 1, the diagnosis can be made almost at a glance by the triad of subcutaneous nodules, arthritis, and laryngeal involvement. When 1 aspect is missing, the possibility of juvenile rheumatoid arthritis, multicentric reticulohistiocytosis, or juvenile hyaline fibromatosis (228600) may be entertained, but ceramidase levels are normal in all of these conditions. Patients with types 2 and 3 survive longer. Liver and lung appear not to be involved. Normal intelligence in many of these patients and the postmortem findings suggest that brain involvement is limited or missing entirely. Moser et al. (1989) stated that several patients with type 3 were 'in relatively stable condition near the end of the second decade.' Type 4 patients present with hepatosplenomegaly and severe debility in the neonatal period and all die before 6 months of age. Massive histiocytic infiltration of liver, spleen, lungs, thymus, and lymphocytes is found at autopsy.</p><p>Antonarakis et al. (1984) reported patients with severe type 4 lipogranulomatosis. Their case 1 had not been recognized even after postmortem study, and the diagnosis of Farber disease was considered only in retrospect when subcutaneous nodules were noted in a subsequently born sib. </p><p>Type 5 lipogranulomatosis, described by Zarbin et al. (1985) and Eviatar et al. (1986), is characterized particularly by psychomotor deterioration beginning at age 1 to 2.5 years. The family of Zarbin et al. (1985) included 2 affected sisters from a marriage of a Korean national and a Caucasian female; the affected girls may represent a genetic compound. As in the case of Pellissier et al. (1986), macular cherry red spots were noted. The patient of Eviatar et al. (1986) was a black child. </p><p>Qualman et al. (1987) described a family in which 1 child, a 3-month-old boy, presented with only hepatosplenomegaly and had a fulminant clinical course suggestive of malignant histiocytosis. The second child, a 5.5-month-old girl, had the typical clinical presentation of Farber disease, with hoarseness and painful swollen joints. Visceral involvement was prominent in both, and included a newly described nephropathy with elevated urine ceramide levels. Liver and spleen contained massive histiocytic infiltrates in association with elevated ceramide levels. Lymph nodes also contained histiocytic infiltrates but without the sinusoidal involvement typical of proliferative histiocytic disorders.</p><p>Nowaczyk et al. (1996) described a 16-week-old female infant with the rare type IV Farber lipogranulomatosis featuring hepatosplenomegaly, macular cherry red spot, and subcutaneous nodules. The patient developed liver dysfunction with jaundice and ascites and myelophthisic anemia because of infiltration of the bone marrow with storage cells. Direct assay of skin fibroblasts confirmed the diagnosis of ceramidase deficiency. </p><p>Kattner et al. (1997) reported a severe case of Farber lipogranulomatosis presenting as nonimmune hydrops fetalis. Prenatal ultrasound at 26 weeks' gestation showed hydrops fetalis with hepatosplenomegaly. The infant died 3 days after birth. Postmortem examination showed edema and multiple white nodules disseminated throughout the body that consisted of storage macrophages and fibrosis. Splenic tissue showed an accumulation of ceramide, and ceramidase activity was profoundly reduced in patient tissues. The parents were unrelated and a prior pregnancy had resulted in early spontaneous abortion. </p><p>Bonafe et al. (2016) reported 3 Iranian sibs, aged 40, 58 and 60 years, with severe adult-onset peripheral osteolysis and a history of episodic fever and pain in childhood. The 40-year-old sib had episodes of fever and pain starting at 3 years of age. He also developed subcutaneous nodules on the ears and over the wrist, elbow and knee joints. He also developed hoarseness. The episodes subsided, and he had joint pain starting at age 12 years. At 40 years of age, he had limitation of movement of knee joints and flexion of the toes. His hands and toes were shortened and the skin over his hands was redundant. X-rays showed severe osteolysis of the distal radius, ulna, metacarpal bones, and phalanges. His feet were similarly affected. His 2 older sibs had short hands and redundant skin. They also had hoarseness, episodic pain and fever, and ear nodules in childhood. None of the sibs had neurologic abnormalities. </p><p>Bao et al. (2020) reported a 25-year-old woman with osteolytic changes in the hands and toes. Nodules were noted on her scalp and paravertebral region when she was 3 months of age and she also had a hoarse voice. Within 4 years, the nodules progressed to her eyelids, ears, hands, wrists, elbows, and knee joints. At 19 years of age, her fingers and toes began to shorten and her skin started to overlap. She also had bilateral flexion contractures and reduced muscle and subcutaneous fat. Hand x-rays showed osteoporosis and severe osteolytic changes in the bilateral phalanges, metacarpi, distal ulnae, and radii. Visualization of the larynx revealed vocal cord thickening with nodules. She had a similarly affected brother, who had severe joint deformities and redundant skin, but who did not undergo genetic testing. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ben-Yoseph et al. (1989) used N-laurylsphingosine deacylase as a substrate for studying the usefulness of plasma specimens for diagnosis and carrier detection of Farber disease. This made a highly sensitive assay because the substrate is cleaved by acid ceramidase at a much faster rate than are other substrates. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a review of acid ceramidase deficiency, Yu et al. (2018) noted that in some patients with Farber disease hematopoietic stem cell transplantation was shown to improve voice hoarseness, subcutaneous nodules, and joint pain, but did not appear to reverse neurologic involvement. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Farber lipogranulomatosis shows autosomal recessive inheritance (summary by Alves et al., 2013). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Farber disease is caused by mutations in the ASAH1 gene, which Li et al. (1999) mapped to chromosome 8p22-p21.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a patient with Farber disease, Koch et al. (1996) identified a homoallelic thr222-to-lys (T222K; 613468.0001) in the ASAH1 gene. </p><p>Bar et al. (2001) identified 6 novel mutations in the ASAH1 gene causing Farber disease: 3 point mutations resulting in single amino acid substitutions (see, e.g., 613468.0003-613468.0004), 1 intronic splice site mutation resulting in exon skipping, and 2 point mutations leading to occasional or complete exon skipping. The last 2 mutations occurred in adjacent nucleotides and led to abnormal splicing of the same exon. Metabolic labeling studies in fibroblasts of 4 patients showed that even though acid ceramidase precursor protein was synthesized in these individuals, rapid proteolysis of the mutated, mature acid ceramidase occurred within the lysosome. </p><p>In a patient with severe Farber disease resulting in hydrops fetalis and death at age 3 days (Kattner et al., 1997), Alves et al. (2013) identified compound heterozygosity for 2 null mutations in the ASAH1 gene (613468.0008 and 613468.0009). The severe phenotype correlated with a complete loss of the full-length protein. </p><p>In 3 Iranian sibs, aged 40, 58 and 60 years, with Farber disease, Bonafe et al. (2016) identified compound heterozygous mutations in the ASAH1 gene (613468.0012-613468.0013). The mutations were identified by whole-exome sequencing and segregated with disease in the family. Acid ceramidase enzyme activity in fibroblasts from 2 of the sibs were reduced to 7 to 8% of control levels. </p><p>In a 25-year-old woman with Farber disease, Bao et al. (2020) identified compound heterozygous mutations in the ASAH1 gene. The mutations were identified by sequencing of the ASAH1 gene. The patient had osteolytic changes of the hands and toes and a history of nodules since infancy, hoarseness, joint swelling, and bone pain. She had a similarly affected brother who did not undergo genetic testing. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Amirhakimi et al. (1976); Cartigny et al. (1985); Farber et al.
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(1957); Fensom et al. (1979)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abul-Haj, S. K., Martz, D. G., Douglas, W. F., Geppert, L. J.
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<strong>Farber's disease: report of a case with observations on its histiogenesis and notes on the nature of the stored material.</strong>
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J. Pediat. 61: 221-232, 1962.
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[PubMed: 13859108]
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[Full Text: https://doi.org/10.1016/s0022-3476(62)80257-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Alves, M. Q., Le Trionnaire, E., Ribeiro, I., Carpentier, S., Harzer, K., Levade, T., Ribeiro, M. G.
|
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<strong>Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.</strong>
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[Full Text: https://doi.org/10.1016/j.ymgme.2013.04.019]
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<p class="mim-text-font">
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Amirhakimi, G. H., Haghighi, P., Ghalambor, M. A., Honari, S.
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<strong>Familial lipogranulomatosis (Farber's disease).</strong>
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Antonarakis, S. E., Valle, D., Moser, H. W., Moser, A., Qualman, S. J., Zinkham, W. H.
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<strong>Phenotypic variability in siblings with Farber disease.</strong>
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<p class="mim-text-font">
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Bao, X., Ma, M., Zhang, Z., Xu, Y., Qui, Z.
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Am. J. Med. Genet. 182A: 2184-2186, 2020.
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Bar, J., Linke, T., Ferlinz, K., Neumann, U., Schuchman, E. H., Sandhoff, K.
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Hum. Mutat. 17: 199-209, 2001.
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[PubMed: 11241842]
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[Full Text: https://doi.org/10.1002/humu.5]
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<p class="mim-text-font">
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Ben-Yoseph, Y., Gagne, R., Parvathy, M. R., Mitchell, D. A., Momoi, T.
|
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<strong>Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.</strong>
|
|
Clin. Genet. 36: 38-42, 1989.
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[PubMed: 2504515]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03364.x]
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<p class="mim-text-font">
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Bonafe, L., Kariminejad, A., Li, J., Royer-Bertrand, B., Garcia, V., Mahdavi, S., Bozorgmehr, B., Lachman, R. L., Mittaz-Crettol, L., Compos-Xavier, B., Nampoothiri, S., Unger, S., Rivolta, C., Levade, T., Superti-Furga, A.
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<strong>Peripheral osteolysis in adults linked to ASAH1 (acid ceramidase) mutations: a new presentation of Farber's disease.</strong>
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Arthritis Rheum. 68: 2323-2327, 2016.
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[PubMed: 26945816]
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[Full Text: https://doi.org/10.1002/art.39659]
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Cartigny, B., Libert, J., Fensom, A. H., Martin, J. J., Dhondt, J. L., Wyart, D., Fontaine, G., Farriaux, J. P.
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<strong>Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease).</strong>
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J. Inherit. Metab. Dis. 8: 8 only, 1985.
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[PubMed: 3921761]
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[Full Text: https://doi.org/10.1007/BF01805474]
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<p class="mim-text-font">
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Clausen, J., Rampini, S.
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<strong>Chemical studies of Farber's disease.</strong>
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Acta Neurol. Scand. 46: 313-322, 1970.
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[PubMed: 5535909]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1970.tb05795.x]
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<p class="mim-text-font">
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Crocker, A. C., Cohen, J., Farber, S.
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<strong>The 'lipogranulomatosis' syndrome: review, with report of patient showing mild involvement. In: Aronson, S. M.; Volk, B. W. (eds.): Inborn Disorders of Sphingolipid Metabolism.</strong>
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Oxford: Pergamon Press (pub.) 1967. Pp. 485-503.
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<p class="mim-text-font">
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Eviatar, L., Sklower, S. L., Wisniewski, K., Feldman, R. S., Gochoco, A.
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<strong>Farber lipogranulomatosis: an unusual presentation in a black child.</strong>
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Pediat. Neurol. 2: 371-374, 1986.
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[PubMed: 2854742]
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<p class="mim-text-font">
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Farber, S., Cohen, J., Uzman, L. L.
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<strong>Lipogranulomatosis: a new lipo-glyco-protein 'storage' disease.</strong>
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<p class="mim-text-font">
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Fensom, A. H., Benson, P. F., Neville, B. R. G., Moser, H. W., Moser, A. E., Dulaney, J. T.
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<strong>Prenatal diagnosis of Farber's disease.</strong>
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Lancet 314: 990-992, 1979. Note: Originally Volume II.
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Kattner, E., Schafer, A., Harzer, K.
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<strong>Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.</strong>
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Europ. J. Pediat. 156: 292-295, 1997.
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Koch, J., Gartner, S., Li, C.-M., Quintern, L. E., Bernardo, K., Levran, O., Schnabel, D., Desnick, R. J., Schuchman, E. H., Sandhoff, K.
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Li, C.-M., Park, J.-H., He, X., Levy, B., Chen, F., Arai, K., Adler, D. A., Disteche, C. M., Koch, J., Sandhoff, K., Schuchman, E. H.
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Nowaczyk, M. J. M., Feigenbaum, A., Silver, M. M., Callahan, J., Levin, A., Jay, V.
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<p class="mim-text-font">
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Pellissier, J. F., Berard-Badier, M., Pinsard, N.
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<strong>Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Qualman, S. J., Moser, H. W., Valle, D., Moser, A. E., Antonarakis, S. E., Boitnott, J. K., Zinkham, W. H.
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<strong>Farber disease: pathologic diagnosis in sibs with phenotypic variability.</strong>
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Am. J. Med. Genet. Suppl. 3: 233-241, 1987.
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</p>
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<li>
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<p class="mim-text-font">
|
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Sugita, M., Dulaney, J. T., Moser, H. W.
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<strong>Ceramidase deficiency in Farber's disease (lipogranulomatosis).</strong>
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Science 178: 1100-1102, 1972.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Yu, F. B. S., Amintas, S., Levade, T., Medin, J. A.
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|
<strong>Acid ceramidase deficiency: Farber disease and SMA-PME.</strong>
|
|
Orphanet J. Rare Dis. 13: 121, 2018.
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[PubMed: 30029679]
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</p>
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<li>
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<p class="mim-text-font">
|
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Zarbin, M. A., Green, W. R., Moser, H. W., Morton, S. J.
|
|
<strong>Farber's disease: light and electron microscopic study of the eye.</strong>
|
|
Arch. Ophthal. 103: 73-80, 1985.
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[PubMed: 2983648]
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[Full Text: https://doi.org/10.1001/archopht.1985.01050010077025]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
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Hilary J. Vernon - updated : 10/04/2021<br>Cassandra L. Kniffin - updated : 7/16/2013<br>Marla J. F. O'Neill - updated : 12/13/2006<br>Ada Hamosh - updated : 9/22/2003<br>Victor A. McKusick - updated : 3/13/2001<br>Joanna S. Amberger - updated : 4/12/2000<br>Victor A. McKusick - updated : 4/3/1997<br>Victor A. McKusick - updated : 4/1/1997<br>Victor A. McKusick - updated : 3/6/1997
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/3/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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