| H01383 | |
| H番号 | H01383 |
| 名称 | 高リポ蛋白血症 IIa 型; LDL レセプター欠損症 |
| 概要 | Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type IIa is an autosomal dominant disorder caused by mutations in the LDL receptor. The LDL receptor gene consists of a number of distinct functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | LDLR [HSA:3949] [KO:K12473] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C80.00 ICD-10: E78.0 MeSH: D006938 OMIM: 143890 |
| 文献 | PMID:21945105 著者 Chan DC, Watts GF タイトル Postprandial lipoprotein metabolism in familial hypercholesterolemia: thinking outside the box. 雑誌 Metabolism 61:3-11 (2012) DOI:10.1016/j.metabol.2011.07.014 PMID:24253857 (GENE) 著者 Kassner U, Wuhle-Demuth M, Missala I, Humphries SE, Steinhagen-Thiessen E, Demuth I タイトル Clinical utility gene card for: hyperlipoproteinemia, TYPE II. 雑誌 Eur J Hum Genet 22:ejhg2013271 (2014) DOI:10.1038/ejhg.2013.271 |