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<title>
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Entry
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- #601539 - PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
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- OMIM
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<span class="h4">#601539</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS214100"> <strong>Phenotypic Series</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div 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… </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 </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… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5684" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601539[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 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>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/eb73e080-dc86-409a-b250-5c349ceb12c0/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><a href="http://www.informatics.jax.org/disease/601539" 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:0081240" 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.">
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<strong>SNOMEDCT:</strong> 238062008<br />
|
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<strong>ICD10CM:</strong> G60.1<br />
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<strong>ORPHA:</strong> 44, 772, 79189<br />
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<strong>DO:</strong> 0081240<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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601539
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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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PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
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<span class="mim-font">
|
|
PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)<br />
|
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PEROXISOME BIOGENESIS DISORDER (NALD/IRD)<br />
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ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL<br />
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REFSUM DISEASE, INFANTILE<br />
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INFANTILE PHYTANIC ACID STORAGE DISEASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<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
|
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</th>
|
|
<th>
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|
Phenotype
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
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</th>
|
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<th>
|
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Gene/Locus
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/410?start=-3&limit=10&highlight=410">
|
|
7q21.2
|
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</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Peroxisome biogenesis disorder 1B (NALD/IRD)
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601539"> 601539 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
PEX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602136"> 602136 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601539" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS214100" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/601539" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601539" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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|
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|
|
<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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysmorphic features <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253978002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253978002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432072</a>]</span><br /> -
|
|
Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing impairment <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/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=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=C1550444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1550444</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">
|
|
|
|
- Retinitis pigmentosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Beaked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<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 /> -
|
|
Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
|
|
Hepatic fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
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|
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|
|
<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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
|
|
|
|
</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">
|
|
|
|
- Leukodystrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192781003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192781003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/330.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">330.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023520</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002415</a>]</span><br /> -
|
|
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Psychomotor 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>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Peroxisome biogenesis disorder complementation group 1, CG1 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478480</a>]</span><br /> -
|
|
Peroxisome biogenesis disorder complementation group E, CGE <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478481</a>]</span><br /> -
|
|
Increased very long chain fatty acids (VLCFAs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478482</a>]</span><br /> -
|
|
Varying degrees of catalase import into peroxisomes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4479739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4479739</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">
|
|
|
|
- Survival into adulthood<br /> -
|
|
Disorder is progressive in some patients<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 1 gene (PEX1, <a href="/entry/602136#0001">602136.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ 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/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/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/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/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/6/889?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/6/916?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/614867"> Peroxisome biogenesis disorder 5B </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/614867"> 614867 </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/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/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614877"> Peroxisome biogenesis disorder 8B </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/614877"> 614877 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603360"> PEX16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603360"> 603360 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/339?start=-3&limit=10&highlight=339"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614876"> Peroxisome biogenesis disorder 8A (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/614876"> 614876 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603360"> PEX16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603360"> 603360 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/214110"> Peroxisome biogenesis disorder 2A (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/214110"> 214110 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600414"> PEX5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600414"> 600414 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/94?start=-3&limit=10&highlight=94"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/202370"> Peroxisome biogenesis disorder 2B </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/202370"> 202370 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600414"> PEX5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600414"> 600414 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266510"> Peroxisome biogenesis disorder 3B </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/266510"> 266510 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601758"> PEX12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601758"> 601758 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/424?start=-3&limit=10&highlight=424"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614859"> Peroxisome biogenesis disorder 3A (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/614859"> 614859 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601758"> PEX12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601758"> 601758 </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/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>
|
|
</td>
|
|
<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>
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<p>A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD1B) is caused by homozygous or compound heterozygous mutation in the PEX1 gene (<a href="/entry/602136">602136</a>) on chromosome 7q21. Mutations in the PEX1 gene also cause Zellweger syndrome (PBD1A; <a href="/entry/214100">214100</a>).</p>
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<p>Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, <a href="/entry/214100">214100</a>) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by <a href="#27" class="mim-tip-reference" title="Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., Moser, H. W. <strong>Peroxisome biogenesis disorders.</strong> Biochim. Biophys. Acta 1763: 1733-1748, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17055079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17055079</a>] [<a href="https://doi.org/10.1016/j.bbamcr.2006.09.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17055079">Steinberg et al., 2006</a>). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by <a href="#35" class="mim-tip-reference" title="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://doi.org/10.1016/j.bbadis.2012.04.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22871920">Waterham and Ebberink, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22871920+17055079" 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>Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see <a href="/entry/214100">214100</a>.</p><p><strong><em>Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRD</em></strong></p><p>
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The phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by <a href="#6" class="mim-tip-reference" title="Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M. <strong>A unified nomenclature for peroxisome biogenesis factors.</strong> J. Cell Biol. 135: 1-3, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8858157</a>] [<a href="https://doi.org/10.1083/jcb.135.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8858157">Distel et al., 1996</a>). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (<a href="/entry/202370">202370</a>) is caused by mutation in the PEX5 gene (<a href="/entry/600414">600414</a>) on chromosome 12p13.3; PBD3B (<a href="/entry/266510">266510</a>) is caused by mutation in the PEX12 gene (<a href="/entry/601758">601758</a>) on chromosome 17; PBD4B (<a href="/entry/614863">614863</a>) is caused by mutation in the PEX6 gene (<a href="/entry/601498">601498</a>) on chromosome 6p21.1; PBD5B (<a href="/entry/614867">614867</a>) is caused by mutation in the PEX2 gene (<a href="/entry/170993">170993</a>) on chromosome 8q21.1; PBD6B (<a href="/entry/614871">614871</a>) is caused by mutation in the PEX10 gene (<a href="/entry/602859">602859</a>) on chromosome 1p36.32; PBD7B (<a href="/entry/614873">614873</a>)is caused by mutation in the PEX26 gene (<a href="/entry/608666">608666</a>) on chromosome 22q11.21; PBD8B (<a href="/entry/614877">614877</a>) is caused by mutation in the PEX16 gene (<a href="/entry/603360">603360</a>) on chromosome 11p11; PBD10B (<a href="/entry/617370">617370</a>) is caused by mutation in the PEX3 gene (<a href="/entry/603164">603164</a>) on chromosome 6q24; and PBD11B (<a href="/entry/614885">614885</a>) is caused by mutation in the PEX13 gene (<a href="/entry/601789">601789</a>) on chromosome 2p15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8858157" 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>See PBD1A (<a href="/entry/214100">214100</a>) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; <a href="/entry/215100">215100</a>), and a mild PBD without rhizomelia (PBD9B; <a href="/entry/614879">614879</a>), are caused by mutation in the PEX7 gene (<a href="/entry/601757">601757</a>) on chromosome 6q23.</p>
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<p><a href="#2" class="mim-tip-reference" title="Benke, P. J., Reyes, P. F., Parker, J. C., Jr. <strong>New form of adrenoleukodystrophy.</strong> Hum. Genet. 58: 204-208, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7287005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7287005</a>] [<a href="https://doi.org/10.1007/BF00278712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7287005">Benke et al. (1981)</a> reported brother and sister with similar facial features, seizures from birth, delayed neurologic development which began to deteriorate at age 1 year, and sudden death, associated with respiratory infections, before the age of 3 years. Tanning of the skin was noted 2 months before death of the first child; in the second child, blood cortisol levels failed to increase after intravenous ACTH administration. At autopsy, both patients showed adrenal atrophy and degenerative changes of the white matter throughout the neuroaxis. One of the infants had polar cataracts at birth. The characteristic craniofacial changes were dolichocephaly, prominent and high forehead, esotropia, epicanthic folds, broad nasal bridge, high-arched palate, low-set ears, and anteverted nostrils. The female was as severely affected as the male, making X-linked inheritance unlikely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7287005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Moser, H. W. <strong>Personal Communication.</strong> Baltimore, Md. 11/5/1981."None>Moser (1981)</a> suspected that the neonatal form of adrenoleukodystrophy is inherited as an autosomal recessive: the incidence and degree of affection are comparable in boys and girls. The neonatal form of ALD is clearly separate from the X-linked forms of childhood and adult ALD/AMN and also from Zellweger syndrome (<a href="/entry/214100">214100</a>) to which it bears many clinical and biochemical similarities including the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C26:0). Levels are normal in parents whereas in the X-linked form they are intermediate in the heterozygous female. It also bears similarities to hyperpipecolic acidemia. All are apparently disorders of the peroxisomes, which are lacking in both Zellweger syndrome and neonatal ALD and which are the main site of oxidation of very long chain fatty acids. Since 40 enzymes have been localized to the peroxisome (<a href="#30" class="mim-tip-reference" title="Tolbert, E. <strong>Metabolic pathways in peroxisomes and glyoxysomes.</strong> Ann. Rev. Biochem. 50: 133-157, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7023357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7023357</a>] [<a href="https://doi.org/10.1146/annurev.bi.50.070181.001025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7023357">Tolbert, 1981</a>), there is adequate opportunity for genetic heterogeneity among disorders with phenotypic overlap (cf., the mucopolysaccharidoses). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7023357" 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="Kelley, R. I., Moser, H. W. <strong>Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.</strong> Am. J. Med. Genet. 19: 791-795, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517102</a>] [<a href="https://doi.org/10.1002/ajmg.1320190420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6517102">Kelley and Moser (1984)</a> showed that serum pipecolic acid is elevated, often markedly, in patients with NALD but in none of those with X-linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis or other neurodegenerative disorders. This finding can be added to that of elevated very long chain fatty acids to support a generalized peroxisomal dysfunction and relationship to the Zellweger syndrome. Cystic changes in the kidneys and skeletal changes (very large fontanels and cartilaginous calcifications) occur in Zellweger syndrome but not in NALD. Differentiation is confused by the fact that cases of NALD have been found to have no hepatic peroxisomes (<a href="#16" class="mim-tip-reference" title="Partin, J. S., McAdams, A. J. <strong>Absence of hepatic peroxisomes in neonatal adrenoleukodystrophy. (Abstract)</strong> Pediat. Res. 16: 294A only, 1982."None>Partin and McAdams, 1982</a>), a finding considered virtually pathognomonic of Zellweger syndrome, whereas 2 sibs with many classic features of Zellweger syndrome and elevated VLCFA and pipecolic acid have normal hepatic peroxisomes (<a href="#4" class="mim-tip-reference" title="Burton, B. K., Reed, S. P., Remy, W. T. <strong>Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.</strong> J. Pediat. 99: 729-734, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7299546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7299546</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80393-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7299546">Burton et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6517102+7299546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W. <strong>Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.</strong> Am. J. Med. Genet. 23: 869-901, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3515938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3515938</a>] [<a href="https://doi.org/10.1002/ajmg.1320230404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3515938">Kelley et al. (1986)</a> presented 8 new cases and contrasted the findings with those of Zellweger syndrome. See <a href="/entry/300100">300100</a> for a discussion of the usual form of adrenoleukodystrophy. <a href="#5" class="mim-tip-reference" title="Chen, W. W., Watkins, P. A., Osumi, T., Hashimoto, T., Moser, H. W. <strong>Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.</strong> Proc. Nat. Acad. Sci. 84: 1425-1428, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3469675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3469675</a>] [<a href="https://doi.org/10.1073/pnas.84.5.1425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3469675">Chen et al. (1987)</a> found that despite the absence of the bifunctional enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase, its mRNA could be demonstrated in neonatal ALD fibroblasts. This suggested to them that the protein was rapidly degraded in the cytoplasm before its entry into peroxisomes. In Zellweger syndrome, acyl-CoA oxidase and beta-ketothiolase are also deficient. All 3 enzymes are synthesized on free polyribosomes and then transported into peroxisomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3469675+3515938" 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>Patients with the infantile form of phytanic acid storage disease show both clinical and biochemical differences from patients with the classic form of Refsum disease (<a href="/entry/266500">266500</a>). Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities are not restricted to phytanic acid but also include accumulation of very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Deficiency of peroxisomes in hepatocytes and cultured skin fibroblasts is demonstrable (<a href="#32" class="mim-tip-reference" title="Wanders, R. J. A., Boltshauser, E., Steinmann, B., Spycher, M. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. <strong>Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.</strong> J. Neurol. Sci. 98: 1-11, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1700075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1700075</a>] [<a href="https://doi.org/10.1016/0022-510x(90)90177-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1700075">Wanders et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1700075" 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 relationship between the infantile form of Refsum disease and Zellweger syndrome (ZWS) was suggested by the observations of <a href="#22" class="mim-tip-reference" title="Poulos, A., Sharp, P., Whiting, M. <strong>Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?</strong> Clin. Genet. 26: 579-586, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6209040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6209040</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01107.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6209040">Poulos et al. (1984)</a> in 2 patients. In the infantile form of Refsum disease, as in Zellweger syndrome, peroxisomes are deficient and peroxisomal functions are impaired (<a href="#25" class="mim-tip-reference" title="Schram, A. W., Strijland, A., Hashimoto, T., Wanders, R. J. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. <strong>Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.</strong> Proc. Nat. Acad. Sci. 83: 6156-6158, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2426710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2426710</a>] [<a href="https://doi.org/10.1073/pnas.83.16.6156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2426710">Schram et al., 1986</a>). Clinically, infantile Refsum disease, ZWS, and adrenoleukodystrophy (<a href="/entry/300100">300100</a>) have several overlapping features. Biochemically, IRD patients show accumulation of phytanic acid as in the classic form of Refsum disease but in addition they show defective bile acid metabolism as in ZWS (<a href="#28" class="mim-tip-reference" title="Stokke, O., Skrede, S., Ek, J., Bjorkhem, I. <strong>Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. (Letter)</strong> Scand. J. Clin. Lab. Invest. 44: 463-464, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6207587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6207587</a>] [<a href="https://doi.org/10.3109/00365518409083839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6207587">Stokke et al., 1984</a>). In IRD, manifestations date from birth. Features in addition to those of Refsum disease include some seen in Zellweger syndrome: delayed development, mental retardation, hepatomegaly, and skeletal changes. The levels of VLCFAs are elevated in ZWS and IRD but not in classic Refsum disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6209040+2426710+6207587" 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 infantile Refsum disease, Zellweger disease, and the rhizomelic form of chondrodysplasia punctata (RCDP1; <a href="/entry/215100">215100</a>), also a peroxisomal disorder, the activity of the peroxisomal enzyme acyl-CoA-dehydroxyacetonephosphate acyltransferase is low in platelets and fibroblasts, plasmalogens are deficient, and the plasma phytanic acid levels are usually elevated in patients over the age of 5 months. <a href="#33" class="mim-tip-reference" title="Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M. <strong>Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (Letter)</strong> New Eng. J. Med. 314: 787-788, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419755</a>] [<a href="https://doi.org/10.1056/NEJM198603203141216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2419755">Wanders et al. (1986)</a> found restoration of acyltransferase activity when RCDP cells and infantile Refsum cells were fused. When infantile Refsum cells and Zellweger cells were fused, restoration of enzyme activity was not observed. <a href="#33" class="mim-tip-reference" title="Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M. <strong>Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (Letter)</strong> New Eng. J. Med. 314: 787-788, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419755</a>] [<a href="https://doi.org/10.1056/NEJM198603203141216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2419755">Wanders et al. (1986)</a> felt that this did not necessarily indicate that these are allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2419755" 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 4 cases of infantile Refsum disease, <a href="#24" class="mim-tip-reference" title="Roels, F., Cornelis, A., Poll-The, B. T., Aubourg, P., Ogier, H., Scotto, J., Saudubray, J.-M. <strong>Hepatic peroxisomes are deficient in infantile Refsum disease: a cytochemical study of 4 cases.</strong> Am. J. Med. Genet. 25: 257-271, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2430454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2430454</a>] [<a href="https://doi.org/10.1002/ajmg.1320250210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2430454">Roels et al. (1986)</a> could visualize no peroxisomes by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients and, in the fourth, organelles of peculiar size and shape, with minimal catalase activity, were seen. Birefringent macrophages containing PAS-positive material, on light microscopy, was considered another useful finding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2430454" 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="Poll-The, B. T., Saudubray, J. M., Ogier, H. A. M., Odievre, M., Scotto, J. M., Monnens, L., Govaerts, L. C. P., Roels, F., Cornelis, A., Schutgens, R. B. H., Wanders, R. J. A., Schram, A. W., Tager, J. M. <strong>Infantile Refsum disease: an inherited peroxisomal disorder--comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.</strong> Europ. J. Pediat. 146: 477-483, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2445576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2445576</a>] [<a href="https://doi.org/10.1007/BF00441598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2445576">Poll-The et al. (1987)</a> compared IRD with neonatal adrenoleukodystrophy (NALD) and Zellweger syndrome. The studies of <a href="#3" class="mim-tip-reference" title="Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M. <strong>Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.</strong> J. Clin. Invest. 81: 1710-1715, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2454948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2454948</a>] [<a href="https://doi.org/10.1172/JCI113510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2454948">Brul et al. (1988)</a> suggested that one form of Zellweger syndrome, the infantile form of Refsum syndrome, and hyperpipecolic acidemia are allelic; they failed to show complementation after somatic cell fusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2445576+2454948" 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="#7" class="mim-tip-reference" title="Goez, H., Meiron, D., Horowitz, J., Schutgens, R. H., Wanders, R. J. A., Berant, M., Mandel, H. <strong>Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder.</strong> J. Pediat. Gastroent. Nutr. 20: 98-101, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7533834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7533834</a>]" pmid="7533834">Goez et al. (1995)</a> described 2 IRD infants who had neonatal cholestatic jaundice as the sole initial clinical presentation of their disorder and no accompanying clinical features that would indicate peroxisomal disease. Parental consanguinity was present in both cases. The correct diagnosis was made by evaluation of plasma VLCFAs. Both families were Israeli-Arabs. The 2 parental couples met by chance in the hospital corridor and realized for the first time that all 4 were relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7533834" 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="Bader, P. I., Dougherty, S., Cangany, N., Raymond, G., Jackson, C. E. <strong>Infantile Refsum disease in four Amish sibs.</strong> Am. J. Med. Genet. 90: 110-114, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607947</a>]" pmid="10607947">Bader et al. (2000)</a> reported 4 Amish sibs from a consanguineous (second-cousin) marriage with clinical and biochemical findings of IRD. At least 3 of the 4 had characteristic poorly formed yellow-orange teeth. In addition, the 2 affected females had a pronounced behavior/mood problem which was most apparent after puberty. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10607947" 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="Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).</strong> Hum. Mutat. 23: 209-218, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14974078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14974078</a>] [<a href="https://doi.org/10.1002/humu.10315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14974078">Jansen et al. (2004)</a> pointed out that infantile Refsum disease was called such because at the time it was first described, Refsum disease was the only known disorder characterized by the accumulation of phytanic acid. Subsequent studies showed that these patients had metabolite patterns typical of generalized peroxisomal biogenesis disorders and, indeed, morphologic studies of liver showed a strong deficiency of peroxisomes. <a href="#8" class="mim-tip-reference" title="Jansen, G. A., Waterham, H. R., Wanders, R. J. A. <strong>Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).</strong> Hum. Mutat. 23: 209-218, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14974078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14974078</a>] [<a href="https://doi.org/10.1002/humu.10315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14974078">Jansen et al. (2004)</a> concluded that infantile Refsum disease is an unfortunate name for this peroxisome biogenesis disorder, and suggested that the term be discarded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14974078" 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="#17" class="mim-tip-reference" title="Paul, D. A., Goldsmith, L. S., Miles, D. K., Moser, A. B., Spiro, A. J., Grover, W. D. <strong>Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.</strong> Pediat. Neurol. 9: 496-497, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7605563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7605563</a>] [<a href="https://doi.org/10.1016/0887-8994(93)90034-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7605563">Paul et al. (1993)</a> described affected male and female infant offspring of first-cousin Egyptian parents who presented with manifestations suggesting infantile progressive spinal muscular atrophy (<a href="/entry/253300">253300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7605563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjeldal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a> found that among the 61 patients in complementation group 1 (corresponding to Netherlands group 2 and Japan group E), 56% had the Zellweger syndrome phenotype (ZS; <a href="/entry/214100">214100</a>), 26% had the phenotype of neonatal adrenoleukodystrophy (NALD), 11% had the phenotype of infantile Refsum disease (IRD), and 43 patients (25%) had phenotype of rhizomelic chondrodysplasia (RCDP; <a href="/entry/215100">215100</a>). A variant phenotype was observed in 7% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7541833" 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>One of the variant cases described by <a href="#12" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjeldal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a> was a 40-year-old woman with severe hearing impairment and visual disturbances associated with pigmentary degeneration of the retina detected in early childhood. The patient received special education services, learned to read and write, became a good athlete, and in her twenties functioned well as a special education assistant. In her mid-thirties, gradually increasing impulsive and compulsive behavior developed, and by the age of 40 she had become mute and incontinent. This deterioration was attributed to an extensive and progressive leukodystrophy first demonstrated by magnetic resonance imaging (MRI) at age 37 years. The patient illustrated the wide range of both severity and clinical features in peroxisome biogenesis defects, even of the same complementation group. Of the whole group of 173 patients reported by <a href="#12" class="mim-tip-reference" title="Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjeldal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W. <strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong> J. Pediat. 127: 13-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7541833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7541833</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70250-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7541833">Moser et al. (1995)</a>, 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7541833" 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>Using systematic clinical and biochemical investigations, <a href="#18" class="mim-tip-reference" title="Poll-The, B. T., Gootjes, J., Duran, M., de Klerk, J. B. C., Maillette de Buy Wenniger-Prick, L. J., Admiraal, R. J. C., Waterham, H. R., Wanders, R. J. A., Barth, P. G. <strong>Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.</strong> Am. J. Med. Genet. 126A: 333-338, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15098231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15098231</a>] [<a href="https://doi.org/10.1002/ajmg.a.20664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15098231">Poll-The et al. (2004)</a> delineated the natural history of 31 patients with PBDs, aged 1.2 to 24 years. They excluded classic Zellweger syndrome from the study and included all patients with biochemically confirmed generalized PBD over 1 year of age. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure. Hyperoxaluria was present in 10 patients, of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from nonverbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15098231" 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="#11" class="mim-tip-reference" title="Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K. <strong>A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.</strong> J. Med. Genet. 48: 593-596, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21862673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21862673</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21862673">Majewski et al. (2011)</a> reported a 28-year-old woman (patient 1) with PBD1B who had normal cognition and a history of Leber congenital amaurosis with severe vision loss. Other clinical findings included sensorineural hearing loss, dental enamel disease, and an Arnold-Chiari malformation with hydrosyringomyelia. Biochemical testing demonstrated elevated C26:0 and C22/C26 very long chain fatty acids, elevated plasma phytanic, pristanic and pipecolic acids, and normal urine bile acids. Studies in fibroblasts showed reduced phytanic acid oxidation and elevated soluble catalase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21862673" 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="#23" class="mim-tip-reference" title="Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D., Gould, S. J. <strong>Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.</strong> Nature Genet. 17: 445-448, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9398847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9398847</a>] [<a href="https://doi.org/10.1038/ng1297-445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9398847">Reuber et al. (1997)</a> identified a homozygous gly843-to-asp mutation of the PEX1 gene (G843D; <a href="/entry/602136#0001">602136.0001</a>) in at least 1 patient with neonatal adrenoleukodystrophy (NALD) and in several patients with infantile Refsum disease (IRD). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9398847" 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="#35" class="mim-tip-reference" title="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://doi.org/10.1016/j.bbadis.2012.04.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22871920">Waterham and Ebberink (2012)</a> stated that by far the most common mutation in PEX1 is the G843D mutation and that the effect of this mutation is relatively mild. <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>In a 28-year-old woman (patient 1) with PBD1B, <a href="#11" class="mim-tip-reference" title="Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K. <strong>A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.</strong> J. Med. Genet. 48: 593-596, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21862673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21862673</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21862673">Majewski et al. (2011)</a> identified homozygosity for the common G843D mutation in the PEX1 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21862673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#29" class="mim-tip-reference" title="Subramani, S. <strong>PEX genes on the rise.</strong> Nature Genet. 15: 331-333, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090374</a>] [<a href="https://doi.org/10.1038/ng0497-331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9090374">Subramani (1997)</a> summarized the progress in identifying PEX genes responsible for human genetic diseases. <a href="#36" class="mim-tip-reference" title="Waterham, H.R., Cregg, J.M. <strong>Peroxisome biogenesis.</strong> BioEssays 19: 57-66, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008417</a>] [<a href="https://doi.org/10.1002/bies.950190110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008417">Waterham and Cregg (1997)</a> reviewed the current understanding of peroxisome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9008417+9090374" 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="#Moser1984" class="mim-tip-reference" title="Moser, A. E., Singh, I., Brown, F. R., III, Solish, G. I., Kelley, R. I., Benke, P. J., Moser, H. W. <strong>The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.</strong> New Eng. J. Med. 310: 1141-1146, 1984.">Moser et al. (1984)</a>; <a href="#Ogier1985" class="mim-tip-reference" title="Ogier, H., Roels, F., Cornelis, A., Poll-The, B. T., Scotto, J. M., Odievre, M., Saudubray, J. M. <strong>Absence of hepatic peroxisomes in a case of infantile Refsum's disease. (Letter)</strong> Scand. J. Clin. Lab. Invest. 45: 767-768, 1985.">Ogier et al. (1985)</a>; <a href="#Poll-The1985" class="mim-tip-reference" title="Poll-The, B. T., Poulos, A., Sharp, P., Boue, J., Ogier, H., Odievre, M., Saudubray, J. M. <strong>Antenatal diagnosis of infantile Refsum's disease. (Letter)</strong> Clin. Genet. 27: 524-526, 1985.">Poll-The et al. (1985)</a>; <a href="#Poll-The1986" class="mim-tip-reference" title="Poll-The, B. T., Saudubray, J. M., Ogier, H., Schutgens, R. B. H., Wanders, R. J. A., Schrakamp, G., van den Bosch, H., Trijbels, J. M. F., Poulos, A., Moser, H. W., van Eldere, J., Eyssen, H. J. <strong>Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.</strong> J. Inherit. Metab. Dis. 9: 169-174, 1986.">Poll-The et al. (1986)</a>; <a href="#Scotto1982" class="mim-tip-reference" title="Scotto, J. M., Hadchouel, M., Odievre, M. <strong>Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.</strong> J. Inherit. Metab. Dis. 5: 83-90, 1982.">Scotto et al. (1982)</a>; <a href="#Van1986" class="mim-tip-reference" title="Van Crugten, J. T., Paton, B., Poulos, A. <strong>Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.</strong> J. Inherit. Metab. Dis. 9: 163-168, 1986.">Van Crugten et al.
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(1986)</a>; <a href="#Wanders1986" class="mim-tip-reference" title="Wanders, R. J. A., Schutgens, R. B. H., Schrakamp, G., van den Bosch, H., Tager, J. M., Schram, A. W., Hashimoto, T., Poll-The, B. T., Saudubray, J. M. <strong>Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.</strong> Europ. J. Pediat. 145: 172-175, 1986.">Wanders et al. (1986)</a>
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[<a href="https://doi.org/10.1007/BF00278712" target="_blank">Full Text</a>]
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Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M.
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<strong>Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis.</strong>
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J. Clin. Invest. 81: 1710-1715, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2454948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2454948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2454948" 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/10.1172/JCI113510" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7299546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7299546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7299546" 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(81)80393-9" target="_blank">Full Text</a>]
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Chen, W. W., Watkins, P. A., Osumi, T., Hashimoto, T., Moser, H. W.
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<strong>Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3469675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3469675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3469675" 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/10.1073/pnas.84.5.1425" target="_blank">Full Text</a>]
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Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W.-H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F., Tsukamoto, T., Valle, D., van der Klei, I., van Veldhoven, P. P., Veenhuis, M.
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Goez, H., Meiron, D., Horowitz, J., Schutgens, R. H., Wanders, R. J. A., Berant, M., Mandel, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7533834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7533834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7533834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jansen, G. A., Waterham, H. R., Wanders, R. J. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14974078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14974078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14974078" 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/10.1002/humu.10315" target="_blank">Full Text</a>]
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Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W.
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<strong>Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3515938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3515938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3515938" 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/10.1002/ajmg.1320230404" target="_blank">Full Text</a>]
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Kelley, R. I., Moser, H. W.
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<strong>Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.</strong>
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Am. J. Med. Genet. 19: 791-795, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6517102" 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/10.3109/00365518509155292" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0887-8994(93)90034-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20664" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00246.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00441598" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01107.x" target="_blank">Full Text</a>]
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Scand. J. Clin. Lab. Invest. 44: 463-464, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6207587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6207587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6207587" 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/10.3109/00365518409083839" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Subramani1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Subramani, S.
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|
<strong>PEX genes on the rise.</strong>
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Nature Genet. 15: 331-333, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9090374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9090374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9090374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0497-331" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Tolbert1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tolbert, E.
|
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<strong>Metabolic pathways in peroxisomes and glyoxysomes.</strong>
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Ann. Rev. Biochem. 50: 133-157, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7023357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7023357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7023357" 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/10.1146/annurev.bi.50.070181.001025" target="_blank">Full Text</a>]
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Van Crugten1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Crugten, J. T., Paton, B., Poulos, A.
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<strong>Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.</strong>
|
|
J. Inherit. Metab. Dis. 9: 163-168, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2427794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2427794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2427794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799453" target="_blank">Full Text</a>]
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Wanders1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wanders, R. J. A., Boltshauser, E., Steinmann, B., Spycher, M. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M.
|
|
<strong>Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.</strong>
|
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J. Neurol. Sci. 98: 1-11, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1700075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1700075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1700075" 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/10.1016/0022-510x(90)90177-o" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Wanders1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wanders, R. J. A., Saelman, D., Heymans, H. S. A., Schutgens, R. B. H., Westerveld, A., Poll-The, B. T., Saudubray, J. M., Van den Bosch, H., Strijland, A., Schram, A. W., Tager, J. M.
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<strong>Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (Letter)</strong>
|
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New Eng. J. Med. 314: 787-788, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2419755" 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/10.1056/NEJM198603203141216" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Wanders1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wanders, R. J. A., Schutgens, R. B. H., Schrakamp, G., van den Bosch, H., Tager, J. M., Schram, A. W., Hashimoto, T., Poll-The, B. T., Saudubray, J. M.
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<strong>Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.</strong>
|
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Europ. J. Pediat. 145: 172-175, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2429839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2429839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2429839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00446057" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
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<a id="Waterham2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waterham, H. R., Ebberink, M. S.
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<strong>Genetics and molecular basis of human peroxisome biogenesis disorders.</strong>
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Biochim. Biophys. Acta 1822: 1430-1441, 2012.
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[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>]
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[<a href="https://doi.org/10.1016/j.bbadis.2012.04.006" target="_blank">Full Text</a>]
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Waterham1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waterham, H.R., Cregg, J.M.
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<strong>Peroxisome biogenesis.</strong>
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BioEssays 19: 57-66, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008417" 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/10.1002/bies.950190110" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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 : 02/09/2023
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Cassandra L. Kniffin - updated : 1/4/2011<br>Victor A. McKusick - updated : 6/9/2004<br>David Valle - updated : 6/23/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 11/27/1996
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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alopez : 03/17/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 02/10/2023<br>carol : 02/09/2023<br>carol : 07/18/2019<br>carol : 02/05/2019<br>carol : 03/03/2017<br>ckniffin : 03/02/2017<br>carol : 09/19/2016<br>alopez : 10/27/2015<br>carol : 3/9/2015<br>alopez : 10/26/2012<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>alopez : 10/25/2012<br>carol : 10/25/2012<br>alopez : 10/24/2012<br>alopez : 10/19/2012<br>ckniffin : 1/4/2011<br>ckniffin : 12/8/2005<br>terry : 4/21/2005<br>tkritzer : 6/9/2004<br>alopez : 6/17/2002<br>joanna : 5/4/2001<br>mark : 6/23/1997<br>joanna : 6/23/1997<br>jenny : 12/12/1996<br>terry : 12/9/1996<br>terry : 11/27/1996<br>mark : 11/27/1996
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</span>
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<span class="mim-font">
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<strong>#</strong> 601539
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</span>
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<div>
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<h3>
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<span class="mim-font">
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PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)<br />
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PEROXISOME BIOGENESIS DISORDER (NALD/IRD)<br />
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ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL<br />
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REFSUM DISEASE, INFANTILE<br />
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INFANTILE PHYTANIC ACID STORAGE DISEASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238062008;
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<strong>ICD10CM:</strong> G60.1;
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<strong>ORPHA:</strong> 44, 772, 79189;
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<strong>DO:</strong> 0081240;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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7q21.2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Peroxisome biogenesis disorder 1B (NALD/IRD)
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</span>
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</td>
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<td>
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<span class="mim-font">
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601539
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
PEX1
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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602136
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD1B) is caused by homozygous or compound heterozygous mutation in the PEX1 gene (602136) on chromosome 7q21. Mutations in the PEX1 gene also cause Zellweger syndrome (PBD1A; 214100).</p>
|
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</span>
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<div>
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<br />
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<span class="mim-font">
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<strong>Description</strong>
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<p>Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, 214100) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, 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>Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see 214100.</p><p><strong><em>Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRD</em></strong></p><p>
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The phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (202370) is caused by mutation in the PEX5 gene (600414) on chromosome 12p13.3; PBD3B (266510) is caused by mutation in the PEX12 gene (601758) on chromosome 17; PBD4B (614863) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21.1; PBD5B (614867) is caused by mutation in the PEX2 gene (170993) on chromosome 8q21.1; PBD6B (614871) is caused by mutation in the PEX10 gene (602859) on chromosome 1p36.32; PBD7B (614873)is caused by mutation in the PEX26 gene (608666) on chromosome 22q11.21; PBD8B (614877) is caused by mutation in the PEX16 gene (603360) on chromosome 11p11; PBD10B (617370) is caused by mutation in the PEX3 gene (603164) on chromosome 6q24; and PBD11B (614885) is caused by mutation in the PEX13 gene (601789) on chromosome 2p15. </p><p>See PBD1A (214100) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; 215100), and a mild PBD without rhizomelia (PBD9B; 614879), are caused by mutation in the PEX7 gene (601757) on chromosome 6q23.</p>
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<strong>Clinical Features</strong>
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<p>Benke et al. (1981) reported brother and sister with similar facial features, seizures from birth, delayed neurologic development which began to deteriorate at age 1 year, and sudden death, associated with respiratory infections, before the age of 3 years. Tanning of the skin was noted 2 months before death of the first child; in the second child, blood cortisol levels failed to increase after intravenous ACTH administration. At autopsy, both patients showed adrenal atrophy and degenerative changes of the white matter throughout the neuroaxis. One of the infants had polar cataracts at birth. The characteristic craniofacial changes were dolichocephaly, prominent and high forehead, esotropia, epicanthic folds, broad nasal bridge, high-arched palate, low-set ears, and anteverted nostrils. The female was as severely affected as the male, making X-linked inheritance unlikely. </p><p>Moser (1981) suspected that the neonatal form of adrenoleukodystrophy is inherited as an autosomal recessive: the incidence and degree of affection are comparable in boys and girls. The neonatal form of ALD is clearly separate from the X-linked forms of childhood and adult ALD/AMN and also from Zellweger syndrome (214100) to which it bears many clinical and biochemical similarities including the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C26:0). Levels are normal in parents whereas in the X-linked form they are intermediate in the heterozygous female. It also bears similarities to hyperpipecolic acidemia. All are apparently disorders of the peroxisomes, which are lacking in both Zellweger syndrome and neonatal ALD and which are the main site of oxidation of very long chain fatty acids. Since 40 enzymes have been localized to the peroxisome (Tolbert, 1981), there is adequate opportunity for genetic heterogeneity among disorders with phenotypic overlap (cf., the mucopolysaccharidoses). </p><p>Kelley and Moser (1984) showed that serum pipecolic acid is elevated, often markedly, in patients with NALD but in none of those with X-linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis or other neurodegenerative disorders. This finding can be added to that of elevated very long chain fatty acids to support a generalized peroxisomal dysfunction and relationship to the Zellweger syndrome. Cystic changes in the kidneys and skeletal changes (very large fontanels and cartilaginous calcifications) occur in Zellweger syndrome but not in NALD. Differentiation is confused by the fact that cases of NALD have been found to have no hepatic peroxisomes (Partin and McAdams, 1982), a finding considered virtually pathognomonic of Zellweger syndrome, whereas 2 sibs with many classic features of Zellweger syndrome and elevated VLCFA and pipecolic acid have normal hepatic peroxisomes (Burton et al., 1981). </p><p>Kelley et al. (1986) presented 8 new cases and contrasted the findings with those of Zellweger syndrome. See 300100 for a discussion of the usual form of adrenoleukodystrophy. Chen et al. (1987) found that despite the absence of the bifunctional enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase, its mRNA could be demonstrated in neonatal ALD fibroblasts. This suggested to them that the protein was rapidly degraded in the cytoplasm before its entry into peroxisomes. In Zellweger syndrome, acyl-CoA oxidase and beta-ketothiolase are also deficient. All 3 enzymes are synthesized on free polyribosomes and then transported into peroxisomes. </p><p>Patients with the infantile form of phytanic acid storage disease show both clinical and biochemical differences from patients with the classic form of Refsum disease (266500). Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities are not restricted to phytanic acid but also include accumulation of very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Deficiency of peroxisomes in hepatocytes and cultured skin fibroblasts is demonstrable (Wanders et al., 1990). </p><p>A relationship between the infantile form of Refsum disease and Zellweger syndrome (ZWS) was suggested by the observations of Poulos et al. (1984) in 2 patients. In the infantile form of Refsum disease, as in Zellweger syndrome, peroxisomes are deficient and peroxisomal functions are impaired (Schram et al., 1986). Clinically, infantile Refsum disease, ZWS, and adrenoleukodystrophy (300100) have several overlapping features. Biochemically, IRD patients show accumulation of phytanic acid as in the classic form of Refsum disease but in addition they show defective bile acid metabolism as in ZWS (Stokke et al., 1984). In IRD, manifestations date from birth. Features in addition to those of Refsum disease include some seen in Zellweger syndrome: delayed development, mental retardation, hepatomegaly, and skeletal changes. The levels of VLCFAs are elevated in ZWS and IRD but not in classic Refsum disease. </p><p>In infantile Refsum disease, Zellweger disease, and the rhizomelic form of chondrodysplasia punctata (RCDP1; 215100), also a peroxisomal disorder, the activity of the peroxisomal enzyme acyl-CoA-dehydroxyacetonephosphate acyltransferase is low in platelets and fibroblasts, plasmalogens are deficient, and the plasma phytanic acid levels are usually elevated in patients over the age of 5 months. Wanders et al. (1986) found restoration of acyltransferase activity when RCDP cells and infantile Refsum cells were fused. When infantile Refsum cells and Zellweger cells were fused, restoration of enzyme activity was not observed. Wanders et al. (1986) felt that this did not necessarily indicate that these are allelic disorders. </p><p>In 4 cases of infantile Refsum disease, Roels et al. (1986) could visualize no peroxisomes by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients and, in the fourth, organelles of peculiar size and shape, with minimal catalase activity, were seen. Birefringent macrophages containing PAS-positive material, on light microscopy, was considered another useful finding. </p><p>Poll-The et al. (1987) compared IRD with neonatal adrenoleukodystrophy (NALD) and Zellweger syndrome. The studies of Brul et al. (1988) suggested that one form of Zellweger syndrome, the infantile form of Refsum syndrome, and hyperpipecolic acidemia are allelic; they failed to show complementation after somatic cell fusion. </p><p>Goez et al. (1995) described 2 IRD infants who had neonatal cholestatic jaundice as the sole initial clinical presentation of their disorder and no accompanying clinical features that would indicate peroxisomal disease. Parental consanguinity was present in both cases. The correct diagnosis was made by evaluation of plasma VLCFAs. Both families were Israeli-Arabs. The 2 parental couples met by chance in the hospital corridor and realized for the first time that all 4 were relatives. </p><p>Bader et al. (2000) reported 4 Amish sibs from a consanguineous (second-cousin) marriage with clinical and biochemical findings of IRD. At least 3 of the 4 had characteristic poorly formed yellow-orange teeth. In addition, the 2 affected females had a pronounced behavior/mood problem which was most apparent after puberty. </p><p>Jansen et al. (2004) pointed out that infantile Refsum disease was called such because at the time it was first described, Refsum disease was the only known disorder characterized by the accumulation of phytanic acid. Subsequent studies showed that these patients had metabolite patterns typical of generalized peroxisomal biogenesis disorders and, indeed, morphologic studies of liver showed a strong deficiency of peroxisomes. Jansen et al. (2004) concluded that infantile Refsum disease is an unfortunate name for this peroxisome biogenesis disorder, and suggested that the term be discarded. </p><p>Paul et al. (1993) described affected male and female infant offspring of first-cousin Egyptian parents who presented with manifestations suggesting infantile progressive spinal muscular atrophy (253300). </p><p>Moser et al. (1995) found that among the 61 patients in complementation group 1 (corresponding to Netherlands group 2 and Japan group E), 56% had the Zellweger syndrome phenotype (ZS; 214100), 26% had the phenotype of neonatal adrenoleukodystrophy (NALD), 11% had the phenotype of infantile Refsum disease (IRD), and 43 patients (25%) had phenotype of rhizomelic chondrodysplasia (RCDP; 215100). A variant phenotype was observed in 7% of patients. </p><p>One of the variant cases described by Moser et al. (1995) was a 40-year-old woman with severe hearing impairment and visual disturbances associated with pigmentary degeneration of the retina detected in early childhood. The patient received special education services, learned to read and write, became a good athlete, and in her twenties functioned well as a special education assistant. In her mid-thirties, gradually increasing impulsive and compulsive behavior developed, and by the age of 40 she had become mute and incontinent. This deterioration was attributed to an extensive and progressive leukodystrophy first demonstrated by magnetic resonance imaging (MRI) at age 37 years. The patient illustrated the wide range of both severity and clinical features in peroxisome biogenesis defects, even of the same complementation group. Of the whole group of 173 patients reported by Moser et al. (1995), 10 had unusually mild clinical manifestations, including survival to the fifth decade or deficits limited to congenital cataracts. </p><p>Using systematic clinical and biochemical investigations, Poll-The et al. (2004) delineated the natural history of 31 patients with PBDs, aged 1.2 to 24 years. They excluded classic Zellweger syndrome from the study and included all patients with biochemically confirmed generalized PBD over 1 year of age. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure. Hyperoxaluria was present in 10 patients, of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from nonverbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties. </p><p>Majewski et al. (2011) reported a 28-year-old woman (patient 1) with PBD1B who had normal cognition and a history of Leber congenital amaurosis with severe vision loss. Other clinical findings included sensorineural hearing loss, dental enamel disease, and an Arnold-Chiari malformation with hydrosyringomyelia. Biochemical testing demonstrated elevated C26:0 and C22/C26 very long chain fatty acids, elevated plasma phytanic, pristanic and pipecolic acids, and normal urine bile acids. Studies in fibroblasts showed reduced phytanic acid oxidation and elevated soluble catalase. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Reuber et al. (1997) identified a homozygous gly843-to-asp mutation of the PEX1 gene (G843D; 602136.0001) in at least 1 patient with neonatal adrenoleukodystrophy (NALD) and in several patients with infantile Refsum disease (IRD). </p><p>Waterham and Ebberink (2012) stated that by far the most common mutation in PEX1 is the G843D mutation and that the effect of this mutation is relatively mild. </p><p>In a 28-year-old woman (patient 1) with PBD1B, Majewski et al. (2011) identified homozygosity for the common G843D mutation in the PEX1 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. </p><p><strong><em>Reviews</em></strong></p><p>
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Subramani (1997) summarized the progress in identifying PEX genes responsible for human genetic diseases. Waterham and Cregg (1997) reviewed the current understanding of peroxisome biogenesis. </p>
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</span>
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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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Moser et al. (1984); Ogier et al. (1985); Poll-The et al. (1985);
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Poll-The et al. (1986); Scotto et al. (1982); Van Crugten et al.
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(1986); Wanders et al. (1986)
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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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Bader, P. I., Dougherty, S., Cangany, N., Raymond, G., Jackson, C. E.
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<strong>Infantile Refsum disease in four Amish sibs.</strong>
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Am. J. Med. Genet. 90: 110-114, 2000.
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[PubMed: 10607947]
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Benke, P. J., Reyes, P. F., Parker, J. C., Jr.
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<strong>New form of adrenoleukodystrophy.</strong>
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Hum. Genet. 58: 204-208, 1981.
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Brul, S., Westerveld, A., Strijland, A., Wanders, R. J. A., Schram, A. W., Heymans, H. S. A., Schutgens, R. B. H., van den Bosch, H., Tager, J. M.
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Burton, B. K., Reed, S. P., Remy, W. T.
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Chen, W. W., Watkins, P. A., Osumi, T., Hashimoto, T., Moser, H. W.
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<strong>Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.</strong>
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<strong>A unified nomenclature for peroxisome biogenesis factors.</strong>
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Goez, H., Meiron, D., Horowitz, J., Schutgens, R. H., Wanders, R. J. A., Berant, M., Mandel, H.
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<strong>Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder.</strong>
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Jansen, G. A., Waterham, H. R., Wanders, R. J. A.
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<strong>Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).</strong>
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Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W.
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<strong>Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.</strong>
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Am. J. Med. Genet. 23: 869-901, 1986.
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<strong>Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.</strong>
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Majewski, J., Wang, Z., Lopez, I., Al Humaid, S., Ren, H., Racine, J., Bazinet, A., Mitchel, G., Braverman, N., Koenekoop, R. K.
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<strong>A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.</strong>
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<p class="mim-text-font">
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Moser, A. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjeldal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W.
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<strong>Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.</strong>
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Moser, A. E., Singh, I., Brown, F. R., III, Solish, G. I., Kelley, R. I., Benke, P. J., Moser, H. W.
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<strong>The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.</strong>
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New Eng. J. Med. 310: 1141-1146, 1984.
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[Full Text: https://doi.org/10.1056/NEJM198405033101802]
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<p class="mim-text-font">
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Moser, H. W.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/5/1981.
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accessible. Unfortunately, it is not free to produce. Expert curators
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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