An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Also Known As:
Telangiectasia, Hereditary Hemorrhagic; Osler's Disease; Osler-Rendu-Weber Disease; Osler-Weber-Rendu Syndrome; Telangiectasia, Hereditary Hemorrhagic, Type 1; Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber; Hemorrhagic Telangiectasia, Hereditary; Osler Disease; Osler Rendu Disease; Osler Rendu Weber Disease; Osler Weber Rendu Syndrome; Rendu Osler Weber Disease; Weber Osler Disease; Weber Osler Syndrome; Osler-Rendu Disease; Rendu-Osler-Weber Disease; Weber-Osler Disease; Weber-Osler Syndrome