VHL gene

Mutations in the VHL gene can lead to von Hippel-Lindau syndrome.  This syndrome increases the amount of cysts (fluid filled sacs) and tumors, both cancerous and noncancerous, the person develops.  Often, these symptoms begin to develop during early adulthood.  Commonly noncancerous tumors develop in blood vessels.  Although they are noncancerous, they can cause complications such as headaches, vomiting, decreased muscle coordination, weakness, and loss of vision.  Individuals with this disorder have an increased risk of kidney and pancreas cancer due to the fact that cysts often develop there. Noncancerous tumors on the adrenal glands often develop and may cause headaches, increased anxiety, high blood pressure, and increased sweating.  Additionally, about 10% of people develop noncancerous tumors in the inner ear that may cause deafness, tinnitus (ringing in the ears), and loss of balance.   It is recommended that those with VHL syndrome have a yearly evaluation for any neurologic complication, vision and hearing loss, and blood pressure starting at the age of one.  At the age of sixteen, it is also recommended that individuals get an annual abdominal ultrasound, and MRI of the abdomen, brain and spine.   Mutations in VHL are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.

Resources

https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome#diagnosis

https://www.ncbi.nlm.nih.gov/books/NBK1463/