label: Hereditary Hemorrhagic Telangiectasia
label_lc: hereditary hemorrhagic telangiectasia
description: An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.