Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
| Contact: | Von Hippel-Lindau Family Alliance Australia |
| Email: | australia@vhl.org |
| More info: |
16 Government Road Mona Vale NSW 2103 |
| About: | Von Hippel-Lindau Syndrome is a rare inherited condition which can affect many organs in the body. The features of the disease include an abnormal growth of blood vessels in certain parts of the body. These may knot together to form benign growths known as angiomas. They may develop in the retinas of the eyes or in the brain, spinal cord, the adrenal glands and other parts of the body. People with von Hippel Lindau disease are also predisposed to developing malignancies such as carcinomas of the kidney (renal cell carcinomas). Features of the condition may vary greatly between affected individuals, and even between those from the same family. The age of onset of symptoms may also vary. The condition is caused by a faulty copy of the VHL gene. This gene is located on the short ‘p’ arm of chromosome 3 (3p). Genetic testing may predict if a family member has inherited a mutation in the VHL gene, and is predisposed to developing growths specific to von Hippel-Lindau disease. |
| Useful links: |
VHL Alliance (USA) http://www.vhl.org/ |
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