Mutations in the BMP receptor ALK1(ACVRL1), SMAD4 and the accessory type III receptor ENG are associated with the human condition Hereditary Hemorrhagic Telangiectasia (HHT), characterized by arteriovenous malformations and mucocutaneous telangiectasias10. The gene discussed is ACVRL1; the disease is arteriovenous hemangioma/malformation.