KEGG   DISEASE: Peroxisome biogenesis disorder
Entry
H00205                      Disease                                
Name
Peroxisome biogenesis disorder
  Subgroup
Zellweger syndrome (ZS) [DS:H01342]
Adrenoleukodystrophy, neonatal (NALD) [DS:H00177]
Infantile Refsum disease (IRD)
Heimler syndrome (HS) [DS:H00204]
Rhizomelic chondrodysplasia punctata (RCDP1) [DS:H00207]
Description
Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), Infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1). Zellweger syndrome is the most severe form and results in neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar symptoms, but they survive considerably longer than ZS. NALD is the intermediate form and IRD is the mildest form.
Category
Congenital disorder of metabolism; Peroxisomal disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H00205  Peroxisome biogenesis disorder
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H00205  Peroxisome biogenesis disorder
Related
pathway
hsa04146  Peroxisome
Gene
(PBD1A/1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2A/2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3A/3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4A/4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5A/5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6A/6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7A/7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8A/8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A/11B) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
Drug
Cholic acid [DR:D10699]
Other DBs
ICD-11: 5C57.0
ICD-10: Q87.8
MeSH: D018901
OMIM: 214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887 601539 202370 266510 614863 614867 614871 614873 614877 614879 614885 614920
Reference
  Authors
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
  Title
Peroxisome biogenesis disorders.
  Journal
Biochim Biophys Acta 1763:1733-48 (2006)
DOI:10.1016/j.bbamcr.2006.09.010
Reference
  Authors
Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM
  Title
Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain.
  Journal
J Inherit Metab Dis 28:369-83 (2005)
DOI:10.1007/s10545-005-7059-y
Reference
  Authors
Wanders RJ, Waterham HR
  Title
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
  Journal
Clin Genet 67:107-33 (2005)
DOI:10.1111/j.1399-0004.2004.00329.x
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