Von Hippel-Lindau Syndrome

By Raul

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What other names are there for this disorder?

The Von Hippel-Lindau syndrome is also know as VHL, angiomatosis retina ecerebelloretinal angiomatosis, Hippel-Lindau disease, VHL syndrome, von Hippel-Lindau disease.

What causes the disorder?

The cause of VHL is tumor suppressor gene ,

is caused by heterozygous mutation in the VHL gene.

What gene or chromosome is affected by this disorder?

The genes that are affected are the VHL genes, if they get mutated it can cause a sign of kidney cancer.

Are there prenatal tests for this disorder?

It is possible for prenatal testing for the Von Hippel Lindau disorder is in an affected parent is known. If you have VHL the offspring will have a likely hood of a 50% chance of getting it.
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What are the symptoms?

The symptoms that you can possibly get is;

Headaches, Sweating, Vomiting, Difficulty Walking, High Blood Pressure, etc

What population is affected? Can anyone be a candidate for the disorder?

Men and women can be affected by this disorder, but it's a uncommon disorder. Anyone can be a candidate for this disorder, but it's uncommon.

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

The Von Hipell-Lindau (VHL) is inherited by a dominant pattern. It is caused in alteration of one of your vhl genes, there are 2 in total.

What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older? What is the long-term outlook for the child?

The child will need to go to radiotherapy, and the child will need to take a view shots every week. The child is able to live up to the average normal human being, but in order for that they'll need to get medical treatments, shots etc.

Fact

It is an estimate about that only 30,000 people have the Von Hipell Lindau syndrome.

It is stated that 1 in 36,000 (1/36,000) people that will get the Von Hipell Lindau syndrome.

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Are there any treatments or cures?

Currently there aren't any cures for the syndrome, but the tumors can be removed which can cause less problems such as a lot of head aches.

Could this disorder have been prevented?

Now the disoreder can't be prevented since they dont know a lot about it yet, but hopefully in the future they'll have some cure.

Can this individual have children in the future? Will those children be affected?

The person (individual) will have the ability to produce a child, but the child will have a 50% likely hood of also having the VHL genes passed on to him.

What is the current status of research on this disorder? Is there a cure coming soon?

Currently they are working on a cure, that has an increased chance of helping the patient with VHL. Currently they don't have the dates for when the cure is here, we might have to wait a couple years, but they are working on it.


More information about a possible cure:

http://www.vhl.org/wordpress/patients-caregivers/progress-toward-a-cure/

How does it look like?

It's the white circle in the brain, as seen in the XRAY below.
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