However, obvious differences in pathological and clinical findings between HHT, PAH and ACDMPV suggest that mutations in human ACVRL1, BMPR2, ENG and FOXF1 have unique molecular mechanisms, and perhaps, affect different cell types in addition to regulating BMP9/ACVRL1/ENG signaling in mature endothelial cells and EPCs. The gene discussed is BMPR2; the disease is hereditary hemorrhagic telangiectasia.