Gaucher disease (GD) [OMIM:231000] is a rare AR subtype of the classical subacute/chronic neuronopathic GD caused by homozygous or compound heterozygous mutations affecting the glucosylceramidase-beta type 1 (GBA1, also known as acid beta-glucosidase) gene on chromosome 1q22. The gene discussed is GBA1; the disease is Gaucher disease.