Figure 1.

Conceptual diagram of “RNF213-associated vascular disease”. Pathogenetic variants of RNF213 have been reported in several vasculopathies. Diseases with red letters (moyamoya disease, intracranial major artery stenosis/occlusion, pulmonary arterial hypertension, and peripheral pulmonary artery stenosis) indicate vasculopathies associated with the RNF213 p.Arg4810Lys variant, which is a “hotspot” variant in the East Asian population. Pink letters (intracranial artery aneurysm/dissection, coronary artery disease, and thoracic aortic aneurysm/dissection) indicate diseases associated with RNF213 variants. Black letters (retinal vessel occlusion, carotid artery stenosis, and renal artery stenosis) indicate diseases that are co-occurrent with moyamoya disease. Gray letters (Takayasu’s arteritis and peripheral artery disease) indicate diseases that may be associated with RNF213 variants.