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<span>Zellweger spectrum disorder</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/</span>
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<h1>Zellweger spectrum disorder</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Zellweger spectrum disorder is a condition that affects many parts of the body. Cases of Zellweger spectrum disorder are often categorizes as severe, intermediate, or mild.</p><p>Individuals with severe Zellweger spectrum disorder usually have signs and symptoms at birth, which worsen over time. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by reduced <a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by the myelin sheath. At the end of the axon are axon terminals." data-caption="" data-credit="Pawel Graczyk/Shutterstock.com" data-filepath="images/PX0000TS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000TS" data-sourceurl="" data-title="Parts of a neuron" href="https://medlineplus.gov/images/PX0000TS_PRESENTATION.jpeg" id="PX0000TS_1" title="Show image">myelin<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Reduced myelin (demyelination) leads to loss of white matter (leukodystrophy). </p><p>Children with severe Zellweger spectrum disorder also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys, and their liver or spleen may be enlarged. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanelles) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals can have eye abnormalities, including clouding of the lenses of the eyes (<a class="image-modal" data-alt="A normal eye with a clear lens compared to an eye with cataract, which has a cloudy lens." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX000100_PRESENTATION.jpeg" data-imgtype="genetics" data-lang="us" data-pix="PX000100" data-sourceurl="" data-title="Cataract" href="https://medlineplus.gov/images/PX000100_PRESENTATION.jpeg" id="PX000100_2" title="Show image">cataracts<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) or involuntary, side-to-side movements of the eyes (nystagmus). Severe Zellweger spectrum disorder involves distinctive facial features, including a flattened face, <a class="image-modal" data-alt="Three photographs of people's faces, each with a wide nasal bridge." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00020N_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00020N" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=e29866db35162165" data-title="Wide nasal bridge" href="https://medlineplus.gov/images/PX00020N_PRESENTATION.jpeg" id="PX00020N_3" title="Show image">broad nasal bridge<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, high forehead, and widely spaced eyes (<a class="image-modal" data-alt="Photograph of the face of a child with widely spaced eyes." data-caption="A boy with widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001SG_PRESENTATION.jpeg" data-imgtype="genetics" data-lang="us" data-pix="PX0001SG" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=71d9f1be67c7f8b6" data-title="Widely spaced eyes (hypertelorism)" href="https://medlineplus.gov/images/PX0001SG_PRESENTATION.jpeg" id="PX0001SG_4" title="Show image">hypertelorism<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Children with severe Zellweger spectrum disorder typically do not survive beyond the first year of life.</p><p>People with intermediate or mild Zellweger spectrum disorder have more variable features that progress more slowly than those with the severe form. Affected children usually do not develop signs and symptoms of the disease until late infancy or early childhood. Children with these intermediate and mild forms often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with the intermediate form survive into childhood, and those with the mild form may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder.</p><p>The severe, intermediate, and mild forms of Zellweger spectrum disorder were once thought to be distinct disorders. The severe form was known as Zellweger syndrome, the intermediate form was neonatal adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition when they were found to be part of the same condition spectrum. </p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Variants (also called mutations) in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. <a class="image-modal" data-alt="Lyosomes are cell structures in the cytoplasm." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000084_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000084" data-sourceurl="" data-title="Lysosomes and peroxisomes" href="https://medlineplus.gov/images/PX000084_PRESENTATION.jpeg" id="PX000084_1" title="Show image">Peroxisomes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome.</p><p>Variants in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of severe Zellweger spectrum disorder are due to the absence of functional peroxisomes within cells. Intermediate and mild Zellweger spectrum disorder are caused by variants that allow some peroxisomes to form.</p><p>Variants in the <em><a data-pid="18391" href="https://medlineplus.gov/genetics/gene/pex1/">PEX1</a></em> gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Zellweger spectrum disorder</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/pex1/">PEX1</a></li>
</ul>
<p><strong>Additional Information from NCBI Gene:</strong></p>
<ul class="relatedmp">
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5192" target="TheNewWin">PEX10</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/8799" target="TheNewWin">PEX11B</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5193" target="TheNewWin">PEX12</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5194" target="TheNewWin">PEX13</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5195" target="TheNewWin">PEX14</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/9409" target="TheNewWin">PEX16</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5824" target="TheNewWin">PEX19</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5828" target="TheNewWin">PEX2</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/55670" target="TheNewWin">PEX26</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/8504" target="TheNewWin">PEX3</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5830" target="TheNewWin">PEX5</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5190" target="TheNewWin">PEX6</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Cerebrohepatorenal syndrome</li> <li>PBD, ZSS</li> <li>PBD-ZSD</li> <li>Peroxisome biogenesis disorders, Zellweger syndrome spectrum</li> <li>Zellweger spectrum</li> <li>Zellweger syndrome spectrum</li> <li>ZSD</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1832200/" target="TheNewWin">Genetic Testing Registry: Peroxisome biogenesis disorder</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3550234/" target="TheNewWin">Genetic Testing Registry: Peroxisome biogenesis disorder 2B</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4721541/" target="TheNewWin">Genetic Testing Registry: Peroxisome biogenesis disorder 1A (Zellweger)</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0282527/" target="TheNewWin">Genetic Testing Registry: Peroxisome biogenesis disorder 1B</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/11890/index" target="TheNewWin">Peroxisome biogenesis disorder</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://rarediseases.info.nih.gov/diseases/7917/index" target="TheNewWin">Zellweger syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Zellweger spectrum disorder%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/202370" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 2B; PBD2B</a></li>
<li><a href="https://omim.org/entry/214100" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A</a></li>
<li><a href="https://omim.org/entry/214110" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A</a></li>
<li><a href="https://omim.org/entry/266510" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 3B; PBD3B</a></li>
<li><a href="https://omim.org/entry/601539" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 1B; PBD1B</a></li>
<li><a href="https://omim.org/entry/614859" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A</a></li>
<li><a href="https://omim.org/entry/614862" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A</a></li>
<li><a href="https://omim.org/entry/614866" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A</a></li>
<li><a href="https://omim.org/entry/614870" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A</a></li>
<li><a href="https://omim.org/entry/614872" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A</a></li>
<li><a href="https://omim.org/entry/614876" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A</a></li>
<li><a href="https://omim.org/entry/614882" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A</a></li>
<li><a href="https://omim.org/entry/614883" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A</a></li>
<li><a href="https://omim.org/entry/614886" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A</a></li>
<li><a href="https://omim.org/entry/614887" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A</a></li>
<li><a href="https://omim.org/entry/614920" target="TheNewWin">PEROXISOME BIOGENESIS DISORDER 14B; PEX14B</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28zellweger+spectrum%5BTIAB%5D%29+OR+%28zellweger+syndrome+spectrum%5BTIAB%5D%29+OR+%28zellweger+syndrome%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Braverman NE, D&#x27;Agostino MD, Maclean GE. Peroxisome biogenesis disorders:
Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev.
2013;17(3):187-96. doi: 10.1002/ddrr.1113. <a href="https://pubmed.ncbi.nlm.nih.gov/23798008" target="TheNewWin">Citation on PubMed</a></li>
<li>Crane DI, Maxwell MA, Paton BC. PEX1 mutations in the Zellweger spectrum of
the peroxisome biogenesis disorders. Hum Mutat. 2005 Sep;26(3):167-75. doi:
10.1002/humu.20211. <a href="https://pubmed.ncbi.nlm.nih.gov/16086329" target="TheNewWin">Citation on PubMed</a></li>
<li>Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock
JM, Kemp S, Wanders RJ, Waterham HR. A novel defect of peroxisome division due to
a homozygous non-sense mutation in the PEX11beta gene. J Med Genet. 2012
May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. <a href="https://pubmed.ncbi.nlm.nih.gov/22581968" target="TheNewWin">Citation on PubMed</a></li>
<li>Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR. Genetic
classification and mutational spectrum of more than 600 patients with a Zellweger
syndrome spectrum disorder. Hum Mutat. 2011 Jan;32(1):59-69. doi:
10.1002/humu.21388. <a href="https://pubmed.ncbi.nlm.nih.gov/21031596" target="TheNewWin">Citation on PubMed</a></li>
<li>Rosewich H, Ohlenbusch A, Gartner J. Genetic and clinical aspects of Zellweger
spectrum patients with PEX1 mutations. J Med Genet. 2005 Sep;42(9):e58. doi:
10.1136/jmg.2005.033324. <a href="https://pubmed.ncbi.nlm.nih.gov/16141001" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1736134/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome
biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. doi:
10.1016/j.bbamcr.2006.09.010. Epub 2006 Sep 14. <a href="https://pubmed.ncbi.nlm.nih.gov/17055079" target="TheNewWin">Citation on PubMed</a></li>
<li>Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Zellweger Spectrum Disorder.
2003 Dec 12 [updated 2020 Oct 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,
Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK1448/
<a href="https://pubmed.ncbi.nlm.nih.gov/20301621" target="TheNewWin">Citation on PubMed</a></li>
<li>Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of
peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. doi:
10.1111/j.1399-0004.2004.00329.x. <a href="https://pubmed.ncbi.nlm.nih.gov/15679822" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<li><a href="https://medlineplus.gov/ency/article/002261.htm">Myelin</a></li>
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<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
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