| H00930 | |
| H番号 | H00930 |
| 名称 | 低アルファリポ蛋白血症 |
| 概要 | Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Tangier disease [DS:H00159] is also caused by mutations of ABCA1. |
| リンク | ICD-11: 5C81.0 ICD-10: E78.6 MeSH: D052456 OMIM: 604091 618463 |
| 文献 | PMID:15841208 (ABCA1) 著者 Timmins JM, Lee JY, Boudyguina E, Kluckman KD, Brunham LR, Mulya A, Gebre AK, Coutinho JM, Colvin PL, Smith TL, Hayden MR, Maeda N, Parks JS タイトル Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. 雑誌 J Clin Invest 115:1333-42 (2005) DOI:10.1172/JCI23915 PMID:10998475 (ABCA1) 著者 Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr タイトル Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. 雑誌 Atherosclerosis 152:457-68 (2000) DOI:10.1016/S0021-9150(99)00498-0 PMID:17991432 (APOA1) 著者 Esperon P, Raggio V, Stoll M, Vital M, Alallon W タイトル A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease. 雑誌 Clin Chim Acta 388:222-4 (2008) DOI:10.1016/j.cca.2007.10.015 |