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.
Oslers sjukdom
Hemorrhagic Telangiectasia, Hereditary — Weber-Osler Disease — Weber Osler Disease — Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber — Rendu-Osler-Weber Disease — Rendu Osler Weber Disease — Osler-Rendu-Weber Disease — Osler Rendu Weber Disease — Hereditary Hemorrhagic Telangiectasia — Osler's Disease — Osler Disease — Weber-Osler Syndrome — Weber Osler Syndrome — Osler-Rendu Disease — Osler Rendu Disease — Osler-Weber-Rendu Syndrome — Osler Weber Rendu Syndrome — Telangiectasia, Hereditary Hemorrhagic, Type 1