Gaucher Disease

**Definition:** An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

**Tree numbers:** - C10.228.140.163.100.435.825.400 - C16.320.565.189.435.825.400 - C16.320.565.398.641.803.441 - C16.320.565.595.554.825.400 - C18.452.132.100.435.825.400 - C18.452.584.563.641.803.441 - C18.452.648.189.435.825.400 - C18.452.648.398.641.803.441 - C18.452.648.595.554.825.400

**Synonyms:** - Acid beta-Glucosidase Deficiency Disease - Acid beta-Glucosidase Deficiency - Glucocerebrosidase Deficiency - Gaucher's Disease - Gaucher Splenomegaly - Gaucher Syndrome - Gauchers Disease - Glucocerebrosidosis - Glucosyl Cerebroside Lipidosis - Glucosylceramidase Deficiency - Glucosylceramide Beta-Glucosidase Deficiency - Glucosylceramide Lipidosis - Kerasin Histiocytosis - Kerasin Lipoidosis - Kerasin thesaurismosis - Lipoid Histiocytosis (Kerasin Type) - Cerebroside Lipidosis Syndrome - Glucosylceramide Beta-Glucosidase Deficiency Disease - Glucocerebrosidase Deficiency Disease