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<title>
Entry
- #614885 - PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
- OMIM
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<span class="h4">#614885</span>
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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/614885"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS214100"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=(PEROXISOME BIOGENESIS DISORDER) OR (PEX13)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
<div id="mimEuroGentestFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=410&Typ=Pat" title="Neonatal adrenoleukodystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Neonatal adrenoleukodystro…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=5016&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Infantile Refsum disease&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11215&Typ=Pat" title="Peroxisome biogenesis disorder" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Peroxisome biogenesis diso…&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614885[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>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=44" title="Neonatal adrenoleukodystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Neonatal adrenoleukodystro…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Infantile Refsum disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79189" title="Peroxisome biogenesis disorder" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Peroxisome biogenesis diso…</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
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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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0081439" 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>
<div><a href="http://www.informatics.jax.org/disease/614885" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0081439" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 44, 772, 79189<br />
<strong>DO:</strong> 0081439<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
614885
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
</span>
</h3>
</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/2/279?start=-3&limit=10&highlight=279">
2p15
</a>
</span>
</td>
<td>
<span class="mim-font">
Peroxisome biogenesis disorder 11B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614885"> 614885 </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">
PEX13
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/614885" 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')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
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<a href="/phenotypicSeries/PS214100" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/614885" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/614885" 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> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vision loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665346</a>, <a href="https://bioportal.bioontology.org/search?q=C3665386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665386</a>, <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br /> -
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314607</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Muscle weakness, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003323</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Generalized paresis, severe (within 2 months of onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314608</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Scarce peroxisomes in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314606</a>]</span><br /> -
Residual beta-oxidation activity in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314605</a>]</span><br /> -
Normal dihydroxyacetonephosphate acyltransferase (DHAPAT) activity in fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314604</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Based on description of 2 patients (last curated January 2017)<br /> -
Onset of disease precipitated by upper respiratory infection at 16 months of age (in 1 patient)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the peroxisome biogenesis factor 13 gene (PEX13, <a href="/entry/601789#0002">601789.0002</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Peroxisome biogenesis disorder
- <a href="/phenotypicSeries/PS214100">PS214100</a>
- 27 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614871"> Peroxisome biogenesis disorder 6B </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">
<a href="/entry/614871"> 614871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/68?start=-3&limit=10&highlight=68"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614870"> Peroxisome biogenesis disorder 6A (Zellweger) </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">
<a href="/entry/614870"> 614870 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> PEX10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602859"> 602859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/140?start=-3&limit=10&highlight=140"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614887"> Peroxisome biogenesis disorder 13A (Zellweger) </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">
<a href="/entry/614887"> 614887 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> PEX14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601791"> 601791 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1025?start=-3&limit=10&highlight=1025"> 1q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614920"> Peroxisome biogenesis disorder 14B </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">
<a href="/entry/614920"> 614920 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> PEX11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603867"> 603867 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1316?start=-3&limit=10&highlight=1316"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614886"> Peroxisome biogenesis disorder 12A (Zellweger) </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">
<a href="/entry/614886"> 614886 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> PEX19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600279"> 600279 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614885"> Peroxisome biogenesis disorder 11B </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">
<a href="/entry/614885"> 614885 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/279?start=-3&limit=10&highlight=279"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614883"> Peroxisome biogenesis disorder 11A (Zellweger) </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">
<a href="/entry/614883"> 614883 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> PEX13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601789"> 601789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614863"> Peroxisome biogenesis disorder 4B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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">
<a href="/entry/614863"> 614863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614862"> Peroxisome biogenesis disorder 4A (Zellweger) </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">
<a href="/entry/614862"> 614862 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/509?start=-3&limit=10&highlight=509"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616617"> Heimler syndrome 2 </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">
<a href="/entry/616617"> 616617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> PEX6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601498"> 601498 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/215100"> Rhizomelic chondrodysplasia punctata, type 1 </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">
<a href="/entry/215100"> 215100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/889?start=-3&limit=10&highlight=889"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614879"> Peroxisome biogenesis disorder 9B </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">
<a href="/entry/614879"> 614879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> PEX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601757"> 601757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614882"> Peroxisome biogenesis disorder 10A (Zellweger) </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">
<a href="/entry/614882"> 614882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/916?start=-3&limit=10&highlight=916"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617370"> ?Peroxisome biogenesis disorder 10B </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">
<a href="/entry/617370"> 617370 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> PEX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603164"> 603164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601539"> Peroxisome biogenesis disorder 1B (NALD/IRD) </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">
<a href="/entry/601539"> 601539 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214100"> Peroxisome biogenesis disorder 1A (Zellweger) </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">
<a href="/entry/214100"> 214100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/234580"> Heimler syndrome 1 </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">
<a href="/entry/234580"> 234580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> PEX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602136"> 602136 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614866"> Peroxisome biogenesis disorder 5A (Zellweger) </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">
<a href="/entry/614866"> 614866 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/356?start=-3&limit=10&highlight=356"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614867"> Peroxisome biogenesis disorder 5B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614867"> 614867 </a>
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<span class="mim-font">
<a href="/entry/170993"> PEX2 </a>
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<span class="mim-font">
<a href="/entry/170993"> 170993 </a>
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<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
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<span class="mim-font">
<a href="/entry/614877"> Peroxisome biogenesis disorder 8B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614877"> 614877 </a>
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<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
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</td>
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<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
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<span class="mim-font">
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
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<span class="mim-font">
<a href="/entry/614876"> Peroxisome biogenesis disorder 8A (Zellweger) </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614876"> 614876 </a>
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<span class="mim-font">
<a href="/entry/603360"> PEX16 </a>
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<span class="mim-font">
<a href="/entry/603360"> 603360 </a>
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<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
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<span class="mim-font">
<a href="/entry/214110"> Peroxisome biogenesis disorder 2A (Zellweger) </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/214110"> 214110 </a>
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<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
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<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
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<span class="mim-font">
<a href="/entry/202370"> Peroxisome biogenesis disorder 2B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/202370"> 202370 </a>
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<span class="mim-font">
<a href="/entry/600414"> PEX5 </a>
</span>
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<span class="mim-font">
<a href="/entry/600414"> 600414 </a>
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<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
</span>
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<span class="mim-font">
<a href="/entry/266510"> Peroxisome biogenesis disorder 3B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/266510"> 266510 </a>
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<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
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</td>
<td>
<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
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<span class="mim-font">
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
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<span class="mim-font">
<a href="/entry/614859"> Peroxisome biogenesis disorder 3A (Zellweger) </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/614859"> 614859 </a>
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<span class="mim-font">
<a href="/entry/601758"> PEX12 </a>
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<td>
<span class="mim-font">
<a href="/entry/601758"> 601758 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614873"> Peroxisome biogenesis disorder 7B </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>
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<td>
<span class="mim-font">
<a href="/entry/614873"> 614873 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/26?start=-3&limit=10&highlight=26"> 22q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614872"> Peroxisome biogenesis disorder 7A (Zellweger) </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">
<a href="/entry/614872"> 614872 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> PEX26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608666"> 608666 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD11B) is caused by homozygous mutation in the PEX13 gene (<a href="/entry/601789">601789</a>) on chromosome 2p15.</p><p>Mutations in the PEX13 gene also cause Zellweger syndrome (PBD11A; <a href="/entry/614883">614883</a>).</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by <a href="#4" class="mim-tip-reference" title="Waterham, H. R., Ebberink, M. S. &lt;strong&gt;Genetics and molecular basis of human peroxisome biogenesis disorders.&lt;/strong&gt; Biochim. Biophys. Acta 1822: 1430-1441, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22871920/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22871920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.bbadis.2012.04.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22871920">Waterham and Ebberink, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22871920" 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>For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see <a href="/entry/601539">601539</a>.</p><p>Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see <a href="/entry/214100">214100</a>.</p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N. &lt;strong&gt;Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 243: 368-371, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9480815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9480815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/bbrc.1997.8067&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9480815">Shimozawa et al. (1998)</a> described a patient with a peroxisome biogenesis disorder who was the child of nonconsanguineous Caucasian parents. Pregnancy, birth, and milestones during the first postnatal year were normal. After an upper respiratory infection at the age of 16 months he became ill with rapidly progressive hypotonia and muscle weakness leading to severe generalized paresis within 2 months, and gavage feeding became necessary. Loss of hearing and visual decline followed within 6 months of onset. There was no external dysmorphia or hepatosplenomegaly. The patient was given a diagnosis of NALD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9480815" 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="#1" class="mim-tip-reference" title="Krause, C., Rosewich, H., Thanos, M., Gartner, J. &lt;strong&gt;Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.&lt;/strong&gt; Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17041890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17041890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9462&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17041890">Krause et al. (2006)</a> reported a Turkish girl with a progressive clinical course characterized by hypotonia and cataracts. She had caudal neuropore and inverted nipples, but none of the dysmorphic features seen in classic Zellweger syndrome. She died at 31 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#2" class="mim-tip-reference" title="Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J. &lt;strong&gt;PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.&lt;/strong&gt; Am. J. Hum. Genet. 65: 621-634, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10441568/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10441568&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302534&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10441568">Liu et al. (1999)</a> identified homozygosity for a missense mutation in the PEX13 gene (I326T; <a href="/entry/601789#0002">601789.0002</a>) in the patient with NALD described by <a href="#3" class="mim-tip-reference" title="Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N. &lt;strong&gt;Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 243: 368-371, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9480815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9480815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/bbrc.1997.8067&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9480815">Shimozawa et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9480815+10441568" 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 Turkish girl with a peroxisome biogenesis disorder, <a href="#1" class="mim-tip-reference" title="Krause, C., Rosewich, H., Thanos, M., Gartner, J. &lt;strong&gt;Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.&lt;/strong&gt; Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17041890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17041890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9462&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17041890">Krause et al. (2006)</a> identified homozygosity for a missense mutation in the PEX13 gene (W313G; <a href="/entry/601789#0005">601789.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Krause2006" class="mim-anchor"></a>
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<p class="mim-text-font">
Krause, C., Rosewich, H., Thanos, M., Gartner, J.
<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.9462" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Liu1999" class="mim-anchor"></a>
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<p class="mim-text-font">
Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J.
<strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong>
Am. J. Hum. Genet. 65: 621-634, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10441568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302534" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Shimozawa1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N.
<strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong>
Biochem. Biophys. Res. Commun. 243: 368-371, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9480815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9480815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9480815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/bbrc.1997.8067" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Waterham2012" class="mim-anchor"></a>
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<p class="mim-text-font">
Waterham, H. R., Ebberink, M. S.
<strong>Genetics and molecular basis of human peroxisome biogenesis disorders.</strong>
Biochim. Biophys. Acta 1822: 1430-1441, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22871920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22871920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22871920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.bbadis.2012.04.006" target="_blank">Full Text</a>]
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Joanna S. Amberger - updated : 01/25/2017
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Anne M. Stumpf : 10/17/2012
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carol : 08/14/2018
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<h3>
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<strong>#</strong> 614885
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<h3>
<span class="mim-font">
PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
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<span class="mim-text-font">
<strong>ORPHA:</strong> 44, 772, 79189; &nbsp;
<strong>DO:</strong> 0081439; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
2p15
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<td>
<span class="mim-font">
Peroxisome biogenesis disorder 11B
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<td>
<span class="mim-font">
614885
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<td>
<span class="mim-font">
Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
PEX13
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<td>
<span class="mim-font">
601789
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</tr>
</tbody>
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD11B) is caused by homozygous mutation in the PEX13 gene (601789) on chromosome 2p15.</p><p>Mutations in the PEX13 gene also cause Zellweger syndrome (PBD11A; 614883).</p>
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<strong>Description</strong>
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<p>The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). </p><p>For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.</p><p>Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.</p>
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<strong>Clinical Features</strong>
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</h4>
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<p>Shimozawa et al. (1998) described a patient with a peroxisome biogenesis disorder who was the child of nonconsanguineous Caucasian parents. Pregnancy, birth, and milestones during the first postnatal year were normal. After an upper respiratory infection at the age of 16 months he became ill with rapidly progressive hypotonia and muscle weakness leading to severe generalized paresis within 2 months, and gavage feeding became necessary. Loss of hearing and visual decline followed within 6 months of onset. There was no external dysmorphia or hepatosplenomegaly. The patient was given a diagnosis of NALD. </p><p>Krause et al. (2006) reported a Turkish girl with a progressive clinical course characterized by hypotonia and cataracts. She had caudal neuropore and inverted nipples, but none of the dysmorphic features seen in classic Zellweger syndrome. She died at 31 months of age. </p>
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<h4>
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<strong>Molecular Genetics</strong>
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<p>Liu et al. (1999) identified homozygosity for a missense mutation in the PEX13 gene (I326T; 601789.0002) in the patient with NALD described by Shimozawa et al. (1998). </p><p>In a Turkish girl with a peroxisome biogenesis disorder, Krause et al. (2006) identified homozygosity for a missense mutation in the PEX13 gene (W313G; 601789.0005). </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Krause, C., Rosewich, H., Thanos, M., Gartner, J.
<strong>Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.</strong>
Hum. Mutat. 27: 1157, 2006. Note: Electronic Article.
[PubMed: 17041890]
[Full Text: https://doi.org/10.1002/humu.9462]
</p>
</li>
<li>
<p class="mim-text-font">
Liu, Y., Bjorkman, J., Urquhart, A., Wanders, R. J. A., Crane, D. I., Gould, S. J.
<strong>PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders.</strong>
Am. J. Hum. Genet. 65: 621-634, 1999.
[PubMed: 10441568]
[Full Text: https://doi.org/10.1086/302534]
</p>
</li>
<li>
<p class="mim-text-font">
Shimozawa, N., Suzuki, Y., Zhang, Z., Imamura, A., Tsukamoto, T., Osumi, T., Tateishi, K., Okumoto, K., Fujiki, Y., Orii, T., Barth, P. G., Wanders, R. J. A., Kondo, N.
<strong>Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13.</strong>
Biochem. Biophys. Res. Commun. 243: 368-371, 1998.
[PubMed: 9480815]
[Full Text: https://doi.org/10.1006/bbrc.1997.8067]
</p>
</li>
<li>
<p class="mim-text-font">
Waterham, H. R., Ebberink, M. S.
<strong>Genetics and molecular basis of human peroxisome biogenesis disorders.</strong>
Biochim. Biophys. Acta 1822: 1430-1441, 2012.
[PubMed: 22871920]
[Full Text: https://doi.org/10.1016/j.bbadis.2012.04.006]
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Joanna S. Amberger - updated : 01/25/2017
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Anne M. Stumpf : 10/17/2012
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