| H00559 | |
| H number | H00559 |
| Name | von Hippel-Lindau syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Belzutifan [DR:D11954] |
| Comment | - |
| Other DBs | ICD-11: LD2D.Y ICD-10: Q85.8 MeSH: D006623 OMIM: 193300 |
| Reference | PMID:21386872 AUTHORS Maher ER, Neumann HP, Richard S TITLE von Hippel-Lindau disease: a clinical and scientific review. JOURNAL Eur J Hum Genet 19:617-23 (2011) DOI:10.1038/ejhg.2010.175 PMID:16818478 AUTHORS Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S TITLE Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. JOURNAL Jpn J Clin Oncol 36:337-43 (2006) DOI:10.1093/jjco/hyl052 PMID:15611513 (VHL) AUTHORS Kim WY, Kaelin WG. TITLE Role of VHL gene mutation in human cancer. JOURNAL J Clin Oncol 22:4991-5004 (2004) DOI:10.1200/JCO.2004.05.061 PMID:12097293 (CCND1) AUTHORS Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER TITLE 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. JOURNAL Cancer Res 62:3803-11 (2002) |