What is Von Hippel-Lindau Disease?
What is Von Hippel-Lindau Disease?
- Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors.
- Von Hippel-Lindau Disease: An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004
Source - Diseases Database
Von Hippel-Lindau Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Von Hippel-Lindau Disease, or a subtype of Von Hippel-Lindau Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Von Hippel-Lindau Disease as a "rare disease".
Source - Orphanet
Von Hippel-Lindau Disease: Introduction
Types of Von Hippel-Lindau Disease:
Broader types of Von Hippel-Lindau Disease:
How many people get Von Hippel-Lindau Disease?
Prevalance of Von Hippel-Lindau Disease: rare
How serious is Von Hippel-Lindau Disease?
Complications of Von Hippel-Lindau Disease:
see complications of Von Hippel-Lindau Disease
Prognosis of Von Hippel-Lindau Disease:
The
prognosis for patients with VHL depends on the location and complications
of the tumors. Untreated, VHL may result in blindness and/or permanent
brain damage. With early detection and treatment the prognosis is
significantly improved. Death is usually caused by complications of brain
tumors or kidney cancer.
(Source: excerpt from NINDS von Hippel-Lindau Disease Information Page: NINDS)
What causes Von Hippel-Lindau Disease?
Causes of Von Hippel-Lindau Disease: see causes of Von Hippel-Lindau Disease
What are the symptoms of Von Hippel-Lindau Disease?
Symptoms of Von Hippel-Lindau Disease:
see symptoms of Von Hippel-Lindau Disease
Complications of Von Hippel-Lindau Disease:
see complications of Von Hippel-Lindau Disease
Can anyone else get Von Hippel-Lindau Disease?
Inheritance:
see inheritance of Von Hippel-Lindau Disease
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Von Hippel-Lindau Disease: Testing
Diagnostic testing: see tests for Von Hippel-Lindau Disease.
Misdiagnosis: see misdiagnosis and Von Hippel-Lindau Disease.
How is it treated?
Treatments for Von Hippel-Lindau Disease:
see treatments for Von Hippel-Lindau Disease
Research for Von Hippel-Lindau Disease:
see research for Von Hippel-Lindau Disease
Name and Aliases of Von Hippel-Lindau Disease
Main name of condition: Von Hippel-Lindau Disease
Class of Condition for Von Hippel-Lindau Disease: genetic autosomal dominant, cancer
Other names or spellings for Von Hippel-Lindau Disease:
VHL, Angiomatosis, Hippel-Lindau Disease
Cerebroretinal angiomatosis, Familial cerebelloretinal angiomatosis
Source - Diseases Database
VHL, VHL
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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