| H00559 | |
| H番号 | H00559 |
| 名称 | フォンヒッペル・リンダウ症候群 |
| 概要 | von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2D.Y ICD-10: Q85.8 MeSH: D006623 OMIM: 193300 |
| 文献 | PMID:21386872 著者 Maher ER, Neumann HP, Richard S タイトル von Hippel-Lindau disease: a clinical and scientific review. 雑誌 Eur J Hum Genet 19:617-23 (2011) DOI:10.1038/ejhg.2010.175 PMID:16818478 著者 Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S タイトル Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. 雑誌 Jpn J Clin Oncol 36:337-43 (2006) DOI:10.1093/jjco/hyl052 PMID:15611513 (VHL) 著者 Kim WY, Kaelin WG. タイトル Role of VHL gene mutation in human cancer. 雑誌 J Clin Oncol 22:4991-5004 (2004) DOI:10.1200/JCO.2004.05.061 PMID:12097293 (CCND1) 著者 Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER タイトル Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease. 雑誌 Cancer Res 62:3803-11 (2002) |