Gaucher Disease is an autosomal recessive condition, resulting from biallelic variants in the GBA1 gene. 

Deficiency of glucocerebrosidase (acid β-glucosidase)  leads to accumulation of glucosylceramide in reticuloendothelial macrophages — particularly in the bone marrow, spleen, and liver. 

Gaucher Disease is more common among Ashkenazi Jews, and may present clinically with splenomegaly, thrombocytopenia.