U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Peroxisome biogenesis disorder due to PEX1 defect

MedGen UID:
986285
•Concept ID:
CN305475
•
Disease or Syndrome
Synonyms: peroxisome biogenesis disorder due to PEX1 defect; PEX1 related Zellweger spectrum disorder
 
Monarch Initiative: MONDO:0100259

Definition

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. [from MONDO]

Professional guidelines

PubMed

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article

Recent clinical studies

Etiology

Clinical and Neuroimaging Spectrum of Peroxisomal Disorders.
Tan AP, Gonçalves FG, Almehdar A, Soares BP
Top Magn Reson Imaging 2018 Aug;27(4):241-257. doi: 10.1097/RMR.0000000000000172. PMID: 30086110
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.
Fujiki Y, Okumoto K, Otera H, Tamura S
Cell Biochem Biophys 2000;32 Spring:155-64. doi: 10.1385/cbb:32:1-3:155. PMID: 11330042

Diagnosis

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ
Mol Genet Metab 2023 Nov;140(3):107680. Epub 2023 Aug 7 doi: 10.1016/j.ymgme.2023.107680. PMID: 37567036Free PMC Article
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Liang JS, Hung KL, Lin LJ, Ong WP, Keng WT, Lu JF
Epilepsy Behav 2023 Aug;145:109266. Epub 2023 Jun 27 doi: 10.1016/j.yebeh.2023.109266. PMID: 37385119
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337

Therapy

Low bone mineral density is a common feature of Zellweger spectrum disorders.
Rush ET, Goodwin JL, Braverman NE, Rizzo WB
Mol Genet Metab 2016 Jan;117(1):33-7. Epub 2015 Nov 24 doi: 10.1016/j.ymgme.2015.11.009. PMID: 26643206

Prognosis

Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance.
Dahabieh MS, Huang F, Goncalves C, Flores González RE, Prabhu S, Bolt A, Di Pietro E, Khoury E, Heath J, Xu ZY, Rémy-Sarrazin J, Mann KK, Orthwein A, Boisvert FM, Braverman N, Miller WH, Del Rincón SV
Autophagy 2022 Mar;18(3):540-558. Epub 2021 Jun 21 doi: 10.1080/15548627.2021.1936932. PMID: 34074205Free PMC Article
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G
Am J Hum Genet 2015 Oct 1;97(4):535-45. Epub 2015 Sep 17 doi: 10.1016/j.ajhg.2015.08.011. PMID: 26387595Free PMC Article
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.
Preuss N, Brosius U, Biermanns M, Muntau AC, Conzelmann E, Gartner J
Pediatr Res 2002 Jun;51(6):706-14. doi: 10.1203/00006450-200206000-00008. PMID: 12032265
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337

Clinical prediction guides

Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis.
Ott J, Sehr J, Schmidt N, Schliebs W, Erdmann R
Biol Chem 2023 Feb 23;404(2-3):209-219. Epub 2022 Dec 19 doi: 10.1515/hsz-2022-0223. PMID: 36534601
Low bone mineral density is a common feature of Zellweger spectrum disorders.
Rush ET, Goodwin JL, Braverman NE, Rizzo WB
Mol Genet Metab 2016 Jan;117(1):33-7. Epub 2015 Nov 24 doi: 10.1016/j.ymgme.2015.11.009. PMID: 26643206
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Metabolic control of peroxisome abundance.
Chang CC, South S, Warren D, Jones J, Moser AB, Moser HW, Gould SJ
J Cell Sci 1999 May;112 ( Pt 10):1579-90. doi: 10.1242/jcs.112.10.1579. PMID: 10212151

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...