Chapter 9 - Diseases of the circulatory system (I00-I99)»Diseases of arteries, arterioles and capillaries (I70-I79)»Hereditary hemorrhagic telangiectasia (I78.0)
I78.0
Hereditary hemorrhagic telangiectasia
Related indications (MeSH) (1)
Telangiectasia, Hereditary Hemorrhagic19 drugs (15 approved, 4 experimental)
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.