KEGG   DISEASE: Zellweger syndrome
Entry
H01342                      Disease                                
Name
Zellweger syndrome
  Supergrp
Peroxisome biogenesis disorder [DS:H00205]
Congenital bile acid synthesis defect [DS:H00628]
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H01342  Zellweger syndrome
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
Related
pathway
hsa04146  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: 5C57.0
ICD-10: Q87.8
MeSH: D015211
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
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