| H01199 | |
| H番号 | H01199 |
| 名称 | 高アルファリポタンパク質血症 |
| 概要 | Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations are associated with an increased coronary artery disease (CAD) risk. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (HALP1) CETP [HSA:1071] [KO:K16835] (HALP2) APOC3 [HSA:345] [KO:K08759] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C80.3 ICD-10: E78.4 MeSH: C564591 OMIM: 143470 614028 |
| 文献 | PMID:11111094 (HALP1) 著者 Yamashita S, Hirano K, Sakai N, Matsuzawa Y タイトル Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein. 雑誌 Biochim Biophys Acta 1529:257-75 (2000) DOI:10.1016/S1388-1981(00)00164-5 PMID:19074352 (HALP2) 著者 Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR タイトル A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. 雑誌 Science 322:1702-5 (2008) DOI:10.1126/science.1161524 PMID:2022742 (HALP2) 著者 von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G タイトル Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. 雑誌 J Clin Invest 87:1724-31 (1991) DOI:10.1172/JCI115190 |