GBA1 and lysosomal storage disease: Gaucher disease (GD) (Online Mendelian Inheritance in Man (OMIM) 23080, 231000, 231005) is a genetic lysosomal storage disorder caused by the pathogenic variants of the glucocerebrosidase (GBA1) gene and, as a result, a deficiency of the glucocerebrosidase enzyme (GCase).