In RNF213, the p.R4810K mutation was common to various vascular phenotypes including MMD, coronary artery disease and pulmonary artery hypertension, whereas different mutations were found in each phenotype for GUCY1A3. In detail, nonsense mutation p.R349X, p.E391KfsX, and c.1086 +1G>A splice donor site mutation were associated with moyamoya with achalasia (11). The gene discussed is RNF213; the disease is pulmonary arterial hypertension.