ADAR and Aicardi-Goutieres syndrome: In humans, mutations of ADAR1 are responsible for Aicardi-Goutières Syndrome (AGS, OMIM: 61501013–15), an inflammatory encephalopathy also referred to as a type 1 interferonopathy, and Dyschromatosis Symmetrica Hereditaria (DSH, OMIM: 12740016–18), characterized by hypo- and hyperpigmentation macules on the extremities that appear in infancy.