Von Hippel-Lindau disease
- VHL syndrome
- Von Hippel-Lindau disease
- Von Hippel-Lindau syndrome
Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.
Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure.
About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are non-cancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.
Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of death.
The Human Phenotype Ontology provides the following list of signs and symptoms for Von Hippel-Lindau disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Von Hippel-Lindau Disease. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/vonhippellindaudisease.html. Accessed 3/18/2011.
- NINDS Von Hippel-Lindau Disease (VHL) Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/von_hippel_lindau/von_hippel_lindau.htm. Accessed 2/9/2009.
- 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.