KEGG   DISEASE: Rhizomelic chondrodysplasia punctata
Entry
H00207                      Disease                                
Name
Rhizomelic chondrodysplasia punctata
  Subgroup
Peroxisomal fatty acyl-CoA reductase 1 disorder [DS:H02100]
  Supergrp
Peroxisome biogenesis disorder [DS:H00205]
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 disorder, Peroxisomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H00207  Rhizomelic chondrodysplasia punctata
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00207  Rhizomelic chondrodysplasia punctata
Pathway
hsa00564  Glycerophospholipid metabolism
hsa00565  Ether lipid metabolism
hsa04146  Peroxisome
Gene
(RCDP1) PEX7 [HSA:5191] [KO:K13341]
(RCDP2) GNPAT [HSA:8443] [KO:K00649]
(RCDP3) AGPS [HSA:8540] [KO:K00803]
(RCDP4) FAR1 [HSA:84188] [KO:K13356]
(RCDP5) PEX5 [HSA:5830] [KO:K13342]
Other DBs
ICD-11: 5C57.0 LD24.04
ICD-10: Q77.3
MeSH: D018902
OMIM: 215100 222765 600121 616154 616716
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
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
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)
DOI:10.1385/JMN:16:2-3:285
Reference
  Authors
Gould SJ, Valle D
  Title
Peroxisome biogenesis disorders: genetics and cell biology.
  Journal
Trends Genet 16:340-5 (2000)
DOI:10.1016/S0168-9525(00)02056-4
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)
DOI:10.1023/A:1023957110171
Reference
  Authors
Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E
  Title
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
  Journal
Hum Mol Genet 24:5845-54 (2015)
DOI:10.1093/hmg/ddv305
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