ENG and telangiectasia, hereditary hemorrhagic, type 1: Heterozygous LOF mutations of ENG cause hereditary hemorrhagic telangiectasia type 1 (HHT1), also known as Osler–Weber–Rendu disease, a rare autosomal dominant condition characterized by telangiectasias and arteriovenous malformations (Meurer et al., 2014).