| H00205 | |
| H番号 | H00205 |
| 名称 | ペルオキシソーム形成異常症 |
| 概要 | 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. |
| 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 | (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] |
| 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 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 |
| 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:15868469 著者 Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM タイトル Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. 雑誌 J Inherit Metab Dis 28:369-83 (2005) DOI:10.1007/s10545-005-7059-y 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 |