KEGG DISEASE: Zellweger syndrome

KEGG

DISEASE: Zellweger syndrome

Entry

H01342                      Disease

Name

Zellweger syndrome

Supergrp

Peroxisome biogenesis disorder [DS:H00205]

Description

Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. This disease is caused by mutation of peroxisomal biogenesis factor (PEX) genes. Due to the deficiency of functional peroxisomes, several metabolite abnormalities are usually found in ZS patients. Typically, patients accumulate C27-bile acid intermediates.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H01342  Zellweger syndrome

Pathway

Peroxisome

Gene

(PBD1A) PEX1 [HSA:5189] [KO:K13338]
(PBD2A) PEX5 [HSA:5830] [KO:K13342]
(PBD3A) PEX12 [HSA:5193] [KO:K13345]
(PBD4A) PEX6 [HSA:5190] [KO:K13339]
(PBD5A) PEX2 [HSA:5828] [KO:K06664]
(PBD6A) PEX10 [HSA:5192] [KO:K13346]
(PBD7A) PEX26 [HSA:55670] [KO:K13340]
(PBD8A) PEX16 [HSA:9409] [KO:K13335]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]

Drug

Cholic acid [DR:D10699]

Other DBs

ICD-11:

MeSH:

OMIM:

214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887

Reference

Authors

Wanders RJ

Title

Metabolic and molecular basis of peroxisomal disorders: a review.

Journal

Am J Med Genet A 126A:355-75 (2004)
DOI:10.1002/ajmg.a.20661

Reference

Authors

Brosius U, Gartner J

Title

Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.

Journal

Cell Mol Life Sci 59:1058-69 (2002)
DOI:10.1007/s00018-002-8486-7

Reference

PMID:11389485 (PEX1)

Authors

Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G

Title

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Journal

Am J Hum Genet 69:35-48 (2001)
DOI:10.1086/321265

Reference

PMID:10462504 (PEX5)

Authors

Shimozawa N, Zhang Z, Suzuki Y, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N

Title

Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

Journal

Biochem Biophys Res Commun 262:504-8 (1999)
DOI:10.1006/bbrc.1999.1232

Reference

PMID:9632816 (PEX12)

Authors

Okumoto K, Shimozawa N, Kawai A, Tamura S, Tsukamoto T, Osumi T, Moser H, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y

Title

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.

Journal

Mol Cell Biol 18:4324-36 (1998)
DOI:10.1128/MCB.18.7.4324

Reference

PMID:8670792 (PEX6)

Authors

Yahraus T, Braverman N, Dodt G, Kalish JE, Morrell JC, Moser HW, Valle D, Gould SJ.

Title

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

Journal

EMBO J 15:2914-23 (1996)
DOI:10.1002/j.1460-2075.1996.tb00654.x

Reference

PMID:14630978 (PEX2)

Authors

Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ

Title

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

Journal

Pediatr Res 55:431-6 (2004)
DOI:10.1203/01.PDR.0000106862.83469.8D

Reference

PMID:9700193 (PEX10)

Authors

Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y

Title

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

Journal

Hum Mol Genet 7:1399-405 (1998)
DOI:10.1093/hmg/7.9.1399

Reference

PMID:12851857 (PEX26)

Authors

Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y

Title

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Journal

Am J Hum Genet 73:233-46 (2003)
DOI:10.1086/377004

Reference

PMID:9837814 (PEX16)

Authors

Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y

Title

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

Journal

Am J Hum Genet 63:1622-30 (1998)
DOI:10.1086/302161

Reference

PMID:10958759 (PEX3)

Authors

Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA

Title

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Journal

Am J Hum Genet 67:967-75 (2000)
DOI:10.1086/303071

Reference

PMID:10332040 (PEX13)

Authors

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders RJ, Kondo N

Title

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Journal

Hum Mol Genet 8:1077-83 (1999)
DOI:10.1093/hmg/8.6.1077

Reference

PMID:10051604 (PEX19)

Authors

Matsuzono Y, Kinoshita N, Tamura S, Shimozawa N, Hamasaki M, Ghaedi K, Wanders RJ, Suzuki Y, Kondo N, Fujiki Y

Title

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.

Journal

Proc Natl Acad Sci U S A 96:2116-21 (1999)
DOI:10.1073/pnas.96.5.2116

Reference

PMID:18285423 (PEX14)

Authors

Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D

Title

Identification of a novel PEX14 mutation in Zellweger syndrome.

Journal

J Med Genet 45:376-83 (2008)
DOI:10.1136/jmg.2007.056697

LinkDB

» Japanese version

DBGET integrated database retrieval system