Deleterious variants in 9 additional genes were observed: ACVRL1 (n = 16 cases, including 7 with HHT), SMAD9 (13 cases), CAV1 (10 cases), ENG (6 cases, including 2 with HHT), bi-allelic EIF2AK4 (5 cases, including 2 with PVOD/PCH), KCNK3 (3 cases), BMPR1A (4 cases), SMAD4 (2 cases), and BMPR1B (2 cases). The gene discussed is EIF2AK4; the disease is pulmonary venoocclusive disease.