KEGG   DISEASE: H00207Help
Entry
H00207                      Disease                                

Name
Rhizomelic chondrodysplasia punctata, including:
Rhizomelic chondrodysplasia punctata, type I (RCDP1);
Rhizomelic chondrodysplasia punctata, type II (RCDP2);
Rhizomelic chondrodysplasia punctata, type III (RCDP3)
Description
Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.
Category
Inherited metabolic disease; Musculoskeletal disease; Peroxisomal disease
BRITE hierarchy
Pathway
Glycerophospholipid metabolism
Ether lipid metabolism
Peroxisome
Gene
(RCDP1) PEX7; peroxisomal biogenesis factor 7 [HSA:5191] [KO:K13341]
(RCDP2) GNPAT; glyceronephosphate O-acyltransferase [HSA:8443] [KO:K00649]
(RCDP3) AGPS; alkyldihydroxyacetonephosphate synthase [HSA:8540] [KO:K00803]
Marker
low plasmalogen levels
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
Reference
  Authors
Wanders RJ, Waterham HR
  Title
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
  Journal
Clin Genet 67:107-33 (2005)
Reference
  Authors
Powers JM
  Title
Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders.
  Journal
J Mol Neurosci 16:285-7; discussion 317-21 (2001)
Reference
  Authors
Gould SJ, Valle D
  Title
Peroxisome biogenesis disorders: genetics and cell biology.
  Journal
Trends Genet 16:340-5 (2000)
Reference
  Authors
de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ
  Title
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
  Journal
J Lipid Res 40:1998-2003 (1999)
Reference
  Authors
Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB
  Title
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
  Journal
Neurochem Res 24:581-6 (1999)

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