Hereditary hemorrhagic telangiectasia type 2
At a minimum, these SNPs are known to be related, and others may also be
At a minimum, these SNPs are known to be related, and others may also be
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs.Wikipedia
Incidence: 1:5,000-10,000
Inheritance: Autosomal dominant.
Penetrance: Approaches 100 percent by age 40.
Cause: Mutations in one of the following genes: endoglin ENG, activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 and perhaps other unidentified gene(s).
