Von Hippel-Lindau disease
Other Names for this Disease
- VHL syndrome
- Von Hippel-Lindau disease
- Von Hippel-Lindau syndrome
- Familial cerebelloretinal angiomatosis
hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include
Last updated: 2/2/2016
- Carlijn Frantzen, Timothy D Klasson, Thera P Links, and Rachel H Giles. Von Hippel-Lindau Syndrome. GeneReviews. August 6, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1463/.
- Von Hippel-Lindau Syndrome. Genetics Home Reference. July, 2012; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome.
- Genetics Home Reference (GHR) contains information on Von Hippel-Lindau disease. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The VHL Alliance provides information about VHL for patients and caregivers.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Von Hippel-Lindau disease. Click on the link to view a sample search on this topic.
- Click here to read a review article published in the Japanese Journal of Clinical Oncology about Von Hippel-Lindau disease entitled: Von Hippel–Lindau Disease: Molecular Pathological Basis, Clinical Criteria, Genetic Testing, Clinical Features of Tumors and Treatment