Von Hippel-Lindau Disease. Gläsker, S., Neumann, H. P. H., Koch, C. A., & Vortmeyer, A. In Feingold, K. R., Ahmed, S. F., Anawalt, B., Blackman, M. R., Boyce, A., Chrousos, G., Corpas, E., de Herder, W. W., Dhatariya, K., Dungan, K., Hofland, J., Kalra, S., Kaltsas, G., Kapoor, N., Koch, C., Kopp, P., Korbonits, M., Kovacs, C. S., Kuohung, W., Laferrère, B., Levy, M., McGee, E. A., McLachlan, R., Muzumdar, R., Purnell, J., Rey, R., Sahay, R., Shah, A. S., Singer, F., Sperling, M. A., Stratakis, C. A., Trence, D. L., & Wilson, D. P., editors, Endotext. MDText.com, Inc., South Dartmouth (MA), 2000.
Von Hippel-Lindau Disease [link]Paper  abstract   bibtex   
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. The incidence of VHL disease is about one in 36,000 livebirths and the penetrance is higher than 90%. Similar to other tumor suppressor gene disorders, VHL disease is characterized by frequent development of specific types of tumors in selective organs. The disease is named after the German ophthalmologist Eugen von Hippel, who identified and described characteristic retinal manifestations, and the Swedish pathologist Arvid Lindau, who discovered the frequent co-occurrence of retinal and cerebellar hemangioblastoma with tumors and cysts in visceral organs. He described the clinical spectrum of VHL disease in detail in a large series of cases from Sweden but also from other European countries. A clinical classification system divides individuals who are affected by VHL disease into two groups: Those predominantly without pheochromocytoma are classified as VHL type 1, and those predominantly with pheochromocytoma are classified as VHL type 2. VHL type 2 is further subdivided into type 2A (with renal cancer) and type 2B (without renal cancer). In type 2C affected patients develop solely pheochromocytomas. Tumorigenesis in patients with VHL disease shares fundamental principles in the different affected organ systems: germline VHL inactivation leads to persistence of microscopic developmentally arrested structures. These microscopic cell clusters already reveal biallelic VHL inactivation and consequent up-regulation of hypoxia inducible factor (HIF) and down-stream targets like VEGF, EPO. Current research for pharmacotherapy of VHL disease targets proteins of the HIF cascade and compounds that lead to upregulation and re-functionalization of mutated VHL protein. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.
@incollection{glasker_von_2000,
	address = {South Dartmouth (MA)},
	title = {Von {Hippel}-{Lindau} {Disease}},
	copyright = {Copyright © 2000-2025, MDText.com, Inc.},
	url = {http://www.ncbi.nlm.nih.gov/books/NBK279124/},
	abstract = {Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. The incidence of VHL disease is about one in 36,000 livebirths and the penetrance is higher than 90\%. Similar to other tumor suppressor gene disorders, VHL disease is characterized by frequent development of specific types of tumors in selective organs. The disease is named after the German ophthalmologist Eugen von Hippel, who identified and described characteristic retinal manifestations, and the Swedish pathologist Arvid Lindau, who discovered the frequent co-occurrence of retinal and cerebellar hemangioblastoma with tumors and cysts in visceral organs. He described the clinical spectrum of VHL disease in detail in a large series of cases from Sweden but also from other European countries. A clinical classification system divides individuals who are affected by VHL disease into two groups: Those predominantly without pheochromocytoma are classified as VHL type 1, and those predominantly with pheochromocytoma are classified as VHL type 2. VHL type 2 is further subdivided into type 2A (with renal cancer) and type 2B (without renal cancer). In type 2C affected patients develop solely pheochromocytomas. Tumorigenesis in patients with VHL disease shares fundamental principles in the different affected organ systems: germline VHL inactivation leads to persistence of microscopic developmentally arrested structures. These microscopic cell clusters already reveal biallelic VHL inactivation and consequent up-regulation of hypoxia inducible factor (HIF) and down-stream targets like VEGF, EPO. Current research for pharmacotherapy of VHL disease targets proteins of the HIF cascade and compounds that lead to upregulation and re-functionalization of mutated VHL protein. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.},
	language = {eng},
	urldate = {2025-05-12},
	booktitle = {Endotext},
	publisher = {MDText.com, Inc.},
	author = {Gläsker, Sven and Neumann, Hartmut P. H. and Koch, Christian A. and Vortmeyer, Alexander},
	editor = {Feingold, Kenneth R. and Ahmed, S. Faisal and Anawalt, Bradley and Blackman, Marc R. and Boyce, Alison and Chrousos, George and Corpas, Emiliano and de Herder, Wouter W. and Dhatariya, Ketan and Dungan, Kathleen and Hofland, Johannes and Kalra, Sanjay and Kaltsas, Gregory and Kapoor, Nitin and Koch, Christian and Kopp, Peter and Korbonits, Márta and Kovacs, Christopher S. and Kuohung, Wendy and Laferrère, Blandine and Levy, Miles and McGee, Elizabeth A. and McLachlan, Robert and Muzumdar, Radhika and Purnell, Jonathan and Rey, Rodolfo and Sahay, Rakesh and Shah, Amy S. and Singer, Frederick and Sperling, Mark A. and Stratakis, Constantine A. and Trence, Dace L. and Wilson, Don P.},
	year = {2000},
	pmid = {25905347},
	keywords = {VHL Protein, pVHL},
}
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