| H01108 | |
| H番号 | H01108 |
| 名称 | CD36 (glycoprotein IV, GPIV) 欠損症 |
| 概要 | Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | CD36 [HSA:948] [KO:K06259] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C80.Y MeSH: C564245 OMIM: 608404 |
| 文献 | PMID:12732446 著者 Hirano K, Kuwasako T, Nakagawa-Toyama Y, Janabi M, Yamashita S, Matsuzawa Y タイトル Pathophysiology of human genetic CD36 deficiency. 雑誌 Trends Cardiovasc Med 13:136-41 (2003) DOI:10.1016/S1050-1738(03)00026-4 PMID:17721545 著者 Podrez EA, Byzova TV, Febbraio M, Salomon RG, Ma Y, Valiyaveettil M, Poliakov E, Sun M, Finton PJ, Curtis BR, Chen J, Zhang R, Silverstein RL, Hazen SL タイトル Platelet CD36 links hyperlipidemia, oxidant stress and a prothrombotic phenotype. 雑誌 Nat Med 13:1086-95 (2007) DOI:10.1038/nm1626 |