| H00207 | |
| H number | H00207 |
| Name | Rhizomelic chondrodysplasia punctata |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C57.0 LD24.04 ICD-10: Q77.3 MeSH: D018902 OMIM: 215100 222765 600121 616154 616716 |
| Reference | PMID:17055079 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 PMID:15679822 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 PMID:11478383 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 PMID:10904262 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 PMID:10553003 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) PMID:10227689 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 PMID:26220973 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 |