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<span>Peroxisome biogenesis disorder 7B</span>
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<div><div class="rprt"><div class="page_header"><h1 class="margin_b0 margin_t0">Peroxisome biogenesis disorder 7B</h1></div><div class="rprt-section definition"><div class="rprt-section-header"><h2>Summary</h2></div><p class="rprt-section-body margin_t0"><Definition source="OMIM">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see 214100.</Definition> [from <a href="http://www.omim.org" title="Online Mendelian Inheritance in Man" class="external-link" target="blank">OMIM</a>]</p></div><div class="rprt-section available-tests"><div class="rprt-section-header"><h2>Available tests</h2><div class="header-extra">55 tests are in the database for this condition. <p class="margin_t0 margin_b0">Check <a href="#related-conditions">Related conditions</a> for additional relevant tests.</p></div></div><div class="rprt-section-body ui-helper-clearfix"><h3>Clinical tests <a href="/gtr/all/tests/?term=C3553951&filter=testtype:clinical">(55 available)</a></h3><div class="available-tests-1"><h4>Biochemical Genetics Tests</h4><ul class="gtr-reset-list"><li><a href="/gtr/all/tests/?term=C3553951[DISCUI]&filter=method:1_1;testtype:clinical" ref="ncbi_uid=766865">Analyte (1) </a></li></ul></div><div class="available-tests-1"><h4>Molecular Genetics Tests</h4><ul class="gtr-reset-list"><li><a href="/gtr/all/tests/?term=C3553951[DISCUI]&filter=method:2_8;testtype:clinical" ref="ncbi_uid=766865">Deletion/duplication analysis (46) </a></li><li><a href="/gtr/all/tests/?term=C3553951[DISCUI]&filter=method:2_7;testtype:clinical" ref="ncbi_uid=766865">Sequence analysis of the entire coding region (50) </a></li><li><a href="/gtr/all/tests/?term=C3553951[DISCUI]&filter=method:2_19;testtype:clinical" ref="ncbi_uid=766865">Targeted variant analysis (13) </a></li></ul></div></div></div><div class="rprt-section associated-genes" id="associated-genes"><h2>Genes <a href="/gtr/all/tests/?term=PEX26[sym]">See tests for all associated and related genes</a></h2><div data-jig="ncbitabs"><ul><li><a href="#associated">Associated genes
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<a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#associated-genes-tab" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><div id="associated-genes-tab" class="help-tooltip" style=" display: none;"><ToolTips>Genes reported to contribute to the condition.</ToolTips></div></a></li></ul><div id="associated"><ul class="associate_genes gtr-reset-list"><li><div><h3><a href="/gtr/genes/55670" ref="ncbi_uid=766865&link_uid=55670">PEX26</a></h3><a href="/gtr/all/tests/?term=55670[geneid]">148 tests</a></div><p class="margin_t0 associate_genes_det"><strong>Also known as: </strong><span>PBD7A, PBD7B, PEX26M1T, Pex26pM1T, PEX26</span><br /><strong>Summary: </strong>peroxisomal biogenesis factor 26</p></li></ul></div></div></div><div class="rprt-section" id="related-conditions"><div class="rprt-section-header"><div class="tooltip-wr"><h2 class="tab-heading">Related conditions</h2><a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button" href="#popper_relatedcond" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a></div><span class="hide" id="popper_relatedcond">Explore related conditions in hierarchy to find additional content.</span><div class="header-extra"><div class="chiclet_legend margin_t05"><span class="chiclet_list" style="position:static;"><span class="chiclet blue round" title="Clinical test">C</span><span> Clinical
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test</span>, <span class="chiclet red round" title="Research test">R</span><span>
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Research test</span>, <span class="chiclet orange" title="OMIM">O</span><span>
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OMIM</span>, <span class="chiclet green" title="GeneReview">G</span><span><em>
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GeneReviews</em></span></span></div></div></div><div id="hierarchy" class="rprt-section-body"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet blue round" title="Clinical test"><a href="/gtr/all/tests/?term=C3553951&filter=testtype:clinical" ref="ncbi_uid=766865">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet orange" title="OMIM"><a ref="ncbi_uid=766865" href="/omim/608666">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span></span>Peroxisome biogenesis disorder 7B</li></ul></div></div></div><div class="rprt-section"><div class="rprt-section-header"><div class="tooltip-wr"><h2 id="clinical-features">Clinical features</h2><a class="jig-ncbipopper ui-corner-all ui-icon ui-icon-help question-button " href="#clinicalfeatures" title="" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Help</a><span id="clinicalfeatures" class="help-tooltip hidden">List of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.</span></div><div class="header-extra cf_disclaimer"><a href="https://hpo.jax.org/app/" class="external-link" target="_blank">Imported from Human Phenotype Ontology (HPO)</a></div></div><div class="rprt-section-body cft-container"><p class="cf-tools"><a href="#show-all-cf">Show all</a><a href="#hide-all-cf">Hide all</a></p><ul class="cf-cat gtr-reset-list"><li><a href="#cf-list-cat-1" class="jig-ncbitoggler">Abnormality of the digestive system</a><ul class="cf-list-cat-item" id="cf-list-cat-1"><li><a href="#cf-list-cat-1-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Decreased liver function</a><div id="cf-list-cat-1-1" class="hidden cf-popper-item-info"><h3>Decreased liver function</h3><ul><li>MedGen UID: 65430</li><li>Concept ID: C0232744</li><li>Finding: Finding</li></ul><p>Abnormality of the digestive system</p><p>See: <a href="/medgen/65430">Feature record</a> | <a href="/medgen/?term="Decreased liver function"[Clinical Features] OR 65430[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-2" class="jig-ncbitoggler">Abnormality of the eye</a><ul class="cf-list-cat-item" id="cf-list-cat-2"><li><a href="#cf-list-cat-2-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Retinal dystrophy</a><div id="cf-list-cat-2-1" class="hidden cf-popper-item-info"><h3>Retinal dystrophy</h3><ul><li>MedGen UID: 208903</li><li>Concept ID: C0854723</li><li>Finding: Finding</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen/?term="Retinal dystrophy"[Clinical Features] OR 208903[uid]">Search on this feature</a></p></div></li><li><a href="#cf-list-cat-2-2" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Visual impairment</a><div id="cf-list-cat-2-2" class="hidden cf-popper-item-info"><h3>Visual impairment</h3><ul><li>MedGen UID: 777085</li><li>Concept ID: C3665347</li><li>Finding: Finding</li></ul><p>Abnormality of the eye</p><p>See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen/?term="Visual impairment"[Clinical Features] OR 777085[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-3" class="jig-ncbitoggler">Abnormality of the musculoskeletal system</a><ul class="cf-list-cat-item" id="cf-list-cat-3"><li><a href="#cf-list-cat-3-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Neonatal hypotonia</a><div id="cf-list-cat-3-1" class="hidden cf-popper-item-info"><h3>Neonatal hypotonia</h3><ul><li>MedGen UID: 412209</li><li>Concept ID: C2267233</li><li>Finding: Disease or Syndrome</li></ul><p>Abnormality of the musculoskeletal system</p><p>See: <a href="/medgen/412209">Feature record</a> | <a href="/medgen/?term="Neonatal hypotonia"[Clinical Features] OR 412209[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-4" class="jig-ncbitoggler">Abnormality of the nervous system</a><ul class="cf-list-cat-item" id="cf-list-cat-4"><li><a href="#cf-list-cat-4-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Global developmental delay</a><div id="cf-list-cat-4-1" class="hidden cf-popper-item-info"><h3>Global developmental delay</h3><ul><li>MedGen UID: 107838</li><li>Concept ID: C0557874</li><li>Finding: Finding</li></ul><p>Abnormality of the nervous system</p><p>See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen/?term="Global developmental delay"[Clinical Features] OR 107838[uid]">Search on this feature</a></p></div></li></ul></li><li><a href="#cf-list-cat-5" class="jig-ncbitoggler">Ear malformation</a><ul class="cf-list-cat-item" id="cf-list-cat-5"><li><a href="#cf-list-cat-5-1" class="jig-ncbipopper" data-jigconfig="hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'">Sensorineural hearing loss disorder</a><div id="cf-list-cat-5-1" class="hidden cf-popper-item-info"><h3>Sensorineural hearing loss disorder</h3><ul><li>MedGen UID: 9164</li><li>Concept ID: C0018784</li><li>Finding: Disease or Syndrome</li></ul><p>Ear malformation</p><p>See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen/?term="Sensorineural hearing loss disorder"[Clinical Features] OR 9164[uid]">Search on this feature</a></p></div></li></ul></li></ul></div></div></div></div>
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