| H00207 | |
| H番号 | H00207 |
| 名称 | 肢根型点状軟骨異形成症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ペルオキシソーム病 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C57.0 LD24.04 ICD-10: Q77.3 MeSH: D018902 OMIM: 215100 222765 600121 616154 616716 |
| 文献 | PMID:17055079 著者 Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW タイトル Peroxisome biogenesis disorders. 雑誌 Biochim Biophys Acta 1763:1733-48 (2006) DOI:10.1016/j.bbamcr.2006.09.010 PMID:15679822 著者 Wanders RJ, Waterham HR タイトル Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. 雑誌 Clin Genet 67:107-33 (2005) DOI:10.1111/j.1399-0004.2004.00329.x PMID:11478383 著者 Powers JM タイトル Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders. 雑誌 J Mol Neurosci 16:285-7; discussion 317-21 (2001) DOI:10.1385/JMN:16:2-3:285 PMID:10904262 著者 Gould SJ, Valle D タイトル Peroxisome biogenesis disorders: genetics and cell biology. 雑誌 Trends Genet 16:340-5 (2000) DOI:10.1016/S0168-9525(00)02056-4 PMID:10553003 著者 de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ タイトル Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. 雑誌 J Lipid Res 40:1998-2003 (1999) PMID:10227689 著者 Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB タイトル Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. 雑誌 Neurochem Res 24:581-6 (1999) DOI:10.1023/A:1023957110171 PMID:26220973 著者 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 タイトル A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 雑誌 Hum Mol Genet 24:5845-54 (2015) DOI:10.1093/hmg/ddv305 |