Telangiectasia, Hereditary Hemorrhagic

**Definition:** 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.

**Tree numbers:** - C14.907.454.900 - C14.907.823.780 - C15.378.463.515.900 - C16.131.240.850.968

**Synonyms:** - Weber-Osler Disease - Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber - Rendu-Osler-Weber Disease - Osler-Rendu-Weber Disease - Hereditary Hemorrhagic Telangiectasia - Osler's Disease - Weber-Osler Syndrome - Osler-Rendu Disease - Osler-Weber-Rendu Syndrome