KEGG DISEASE: ツェルウエーガー症候群

DISEASE: ツェルウエーガー症候群

エントリ

H01342                      Disease

名称

ツェルウエーガー症候群

上位グループ

ペルオキシソーム形成異常症 [DS:H00205]

概要

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.

カテゴリ

先天性代謝異常症

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C57  ペルオキシソーム病
     H01342  ツェルウエーガー症候群

パスウェイ

hsa04146

Peroxisome

病因遺伝子

(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]

リンク

ICD-11:

5C57.0

MeSH:

D015211

OMIM:

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

文献

PMID:15098234

著者

Wanders RJ

タイトル

Metabolic and molecular basis of peroxisomal disorders: a review.

雑誌

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

文献

PMID:12169017

著者

Brosius U, Gartner J

タイトル

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

雑誌

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

文献

PMID:11389485 (PEX1)

著者

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

タイトル

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

雑誌

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

文献

PMID:10462504 (PEX5)

著者

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

タイトル

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

雑誌

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

文献

PMID:9632816 (PEX12)

著者

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

タイトル

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.

雑誌

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

文献

PMID:8670792 (PEX6)

著者

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

タイトル

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

雑誌

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

文献

PMID:14630978 (PEX2)

著者

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

タイトル

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

雑誌

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

文献

PMID:9700193 (PEX10)

著者

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

タイトル

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

雑誌

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

文献

PMID:12851857 (PEX26)

著者

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

タイトル

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

雑誌

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

文献

PMID:9837814 (PEX16)

著者

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

タイトル

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

雑誌

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

文献

PMID:10958759 (PEX3)

著者

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

タイトル

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

雑誌

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

文献

PMID:10332040 (PEX13)

著者

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

タイトル

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

雑誌

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

文献

PMID:10051604 (PEX19)

著者

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

タイトル

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

雑誌

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

文献

PMID:18285423 (PEX14)

著者

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

タイトル

Identification of a novel PEX14 mutation in Zellweger syndrome.

雑誌

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

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