Von Hippel–Lindau disease
| Von Hippel–Lindau disease | |
|---|---|
| Other names | Familial cerebello retinal angiomatosis[1] |
| Locations of the main types of cysts and tumors in Von Hippel–Lindau disease.[2] | |
| Specialty | Medical genetics, neurology |
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement.[3] It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.[4][5][6]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Von Hippel Lindau disease". www.orpha.net. Retrieved 25 May 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Cite error: The named reference
Leung2008was invoked but never defined (see the help page). - ^ "Von Hippel-Lindau disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17.
- ^ Richard, S; Gardie, B; Couvé, S; Gad, S (May 30, 2012). "Von Hippel-Lindau: How a rare disease illuminates cancer biology". Seminars in Cancer Biology. 23 (1): 26–37. doi:10.1016/j.semcancer.2012.05.005. PMID 22659535. Archived from the original (PDF) on April 9, 2022. Retrieved April 20, 2018.
- ^ Henry, Todd; Campell, James; Hawley, Arthur (1969). Todd-Sanford clinical diagnosis by laboratory methods, edited by Israel Davidsohn [and] John Bernard Henry (14th ed.). Philadelphia: Saunders. p. 555. ISBN 978-0-7216-2921-6.
- ^ Wong WT; Agrón E; Coleman HR; et al. (February 2007). "Genotype–phenotype correlation in von Hippel–Lindau disease with retinal angiomatosis". Archives of Ophthalmology. 125 (2): 239–45. doi:10.1001/archopht.125.2.239. PMC 3019103. PMID 17296901. Archived from the original on 2008-12-12. Retrieved 2008-10-22.