Question: What is (are) Von Hippel-Lindau disease ?
Answer: 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 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.
Source: GARD

Question: What are the symptoms of Von Hippel-Lindau disease ?
Answer: What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. 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 noncancerous 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 mortality. 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. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Abnormality of the retinal vasculature 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Neurological speech impairment 90% Nystagmus 90% Pancreatic cysts 90% Renal neoplasm 90% Sensorineural hearing impairment 90% Visceral angiomatosis 90% Gait disturbance 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Incoordination 50% Migraine 50% Multicystic kidney dysplasia 50% Nausea and vomiting 50% Telangiectasia of the skin 50% Visual impairment 50% Abnormality of the lymphatic system 7.5% Abnormality of the macula 7.5% Arrhythmia 7.5% Cataract 7.5% Glaucoma 7.5% Hyperhidrosis 7.5% Hypertensive crisis 7.5% Increased intracranial pressure 7.5% Neoplasm of the middle ear 7.5% Neuroendocrine neoplasm 7.5% Polycystic kidney dysplasia 7.5% Retinal detachment 7.5% Abnormality of the liver - Autosomal dominant inheritance - Cerebellar hemangioblastoma - Epididymal cyst - Hypertension - Multiple renal cysts - Neoplasm of the pancreas - Papillary cystadenoma of the epididymis - Paraganglioma - Phenotypic variability - Pheochromocytoma - Polycythemia - Pulmonary capillary hemangiomatosis - Renal cell carcinoma - Retinal capillary hemangioma - Spinal hemangioblastoma - Tinnitus - Vertigo - 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.
Source: GARD

Question: What causes Von Hippel-Lindau disease ?
Answer: What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.
Source: GARD

Question: Is Von Hippel-Lindau disease inherited ?
Answer: How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
Source: GARD

Question: What are the treatments for Von Hippel-Lindau disease ?
Answer: How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
Source: GARD