U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Peroxisome biogenesis disorder, complementation group 7(CG7)

MedGen UID:
351115
•Concept ID:
C1864399
•
Disease or Syndrome
Synonyms: CG7; Peroxisome biogenesis disorder, complementation group B
 
OMIM®: 614870

Professional guidelines

PubMed

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081

Recent clinical studies

Etiology

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y
J Biol Chem 2006 Jan 20;281(3):1317-23. Epub 2005 Oct 27 doi: 10.1074/jbc.M510044200. PMID: 16257970
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y
Hum Mol Genet 1998 Sep;7(9):1399-405. doi: 10.1093/hmg/7.9.1399. PMID: 9700193
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ
Am J Hum Genet 1998 Aug;63(2):347-59. doi: 10.1086/301963. PMID: 9683594Free PMC Article
PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.
Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y
Mol Cell Biol 1998 Jul;18(7):4324-36. doi: 10.1128/MCB.18.7.4324. PMID: 9632816Free PMC Article

Diagnosis

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y
J Biol Chem 2006 Jan 20;281(3):1317-23. Epub 2005 Oct 27 doi: 10.1074/jbc.M510044200. PMID: 16257970
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Orii T, Kondo N, Osumi T, Fujiki Y
Hum Mol Genet 1998 Dec;7(13):2089-94. doi: 10.1093/hmg/7.13.2089. PMID: 9817926
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ
J Cell Sci 1995 May;108 ( Pt 5):1817-29. doi: 10.1242/jcs.108.5.1817. PMID: 7544797

Prognosis

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081

Clinical prediction guides

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA
Am J Hum Genet 2000 Oct;67(4):967-75. Epub 2000 Aug 24 doi: 10.1086/303071. PMID: 10958759Free PMC Article
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ
Am J Hum Genet 1998 Aug;63(2):347-59. doi: 10.1086/301963. PMID: 9683594Free PMC Article
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ
J Cell Sci 1995 May;108 ( Pt 5):1817-29. doi: 10.1242/jcs.108.5.1817. PMID: 7544797

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
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • 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...