H01342 | |
H number | H01342 |
Name | Zellweger syndrome |
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 |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Cholic acid [DR:D10699] |
Comment | - |
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 | PMID:15098234 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 PMID:12169017 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 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 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 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 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 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 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 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 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 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 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 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 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 |