Genetics overview

BHD is a genetic disease, caused by mutations in the Folliculin (FLCN) gene.

Having BHD symptoms suggests that you may have BHD, but as there are other diseases that can cause similar symptoms, the only way to definitely know if you have BHD is to have a genetic test.

BHD is an autosomal dominant disorder. This means that:

  • men and women are equally likely to be affected;
  • if you have BHD, any child you have has a 50% chance of inheriting BHD from you;
  • if you have BHD, you probably inherited it from one of your parents.

It is possible you have a brand new Folliculin mutation, meaning you are the first person in your family to have BHD. However, this is very unlikely and there is only one known case of this happening.

If you have BHD, it is far more likely that you inherited it from a parent, even if they haven’t been diagnosed with BHD. It is also possible that the blood-relatives of this parent (i.e. your siblings, or any grandparents, aunts, uncles and cousins on that side of the family) may also have BHD.

In this section, you can find the following pages:


Publication date: December 2014
Review date: December 2017