Von Hippel-Lindau disease
Other Names for this Disease
- VHL syndrome
- Von Hippel-Lindau disease
- Von Hippel-Lindau syndrome
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clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac). Mutations in the VHL gene cause VHL disease. These mutations are inherited in an autosomal dominant pattern. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.Von Hippel-Lindau (VHL) disease is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The specific tumors that are associated with VHL disease include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and
Last updated: 6/9/2015
- Frantzen C, Links TP, and Giles RH. Von Hippel-Lindau Disease. GeneReviews. 06/21/2012; http://www.ncbi.nlm.nih.gov/books/NBK1463/. Accessed 6/9/2015.
- Von Hippel-Lindau Syndrome. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome. Accessed 7/5/2011.
- Von Hippel-Lindau Disease. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/vonhippellindaudisease.html. Accessed 3/18/2011.
- 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 Family Alliance has created a handbook on Von Hippel-Lindau syndrome called
The VHL Handbook: What you Need to Know about VHL. The publication is a reference handbook for people with von Hippel-Lindau Disease, their families, and support personnel. Click on the name of the handbook to read more.
- 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