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

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

Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A
J Appl Genet 2020 Feb;61(1):87-91. Epub 2019 Oct 18 doi: 10.1007/s13353-019-00523-w. PMID: 31628608Free PMC Article
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
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
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
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

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
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
Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A
J Appl Genet 2020 Feb;61(1):87-91. Epub 2019 Oct 18 doi: 10.1007/s13353-019-00523-w. PMID: 31628608Free PMC Article
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
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

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

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
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
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
Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG
Hum Mutat 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932. PMID: 19105186Free PMC Article
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

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
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
Nguyen T, Bjorkman J, Paton BC, Crane DI
J Cell Sci 2006 Feb 15;119(Pt 4):636-45. Epub 2006 Jan 31 doi: 10.1242/jcs.02776. PMID: 16449325
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
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

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...