Telangiectasia, Hereditary Hemorrhagic

Telangiektasi, ärftlig hemorragisk

Engelsk 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.

Svenska synonymer

Oslers sjukdom

Engelska synonymer

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