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.

Descriptor ID	D005776
MeSH Number(s)	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 C18.452.584.687.803.441 C18.452.648.189.435.825.400 C18.452.648.398.641.803.441 C18.452.648.595.554.825.400
Concept/Terms	Gaucher Disease Gaucher Disease Disease, Gaucher Acid beta-Glucosidase Deficiency Disease Acid beta Glucosidase Deficiency Disease Cerebroside Lipidosis Syndrome Cerebroside Lipidosis Syndromes Lipidosis Syndrome, Cerebroside Lipidosis Syndromes, Cerebroside Syndrome, Cerebroside Lipidosis Syndromes, Cerebroside Lipidosis Glucocerebrosidase Deficiency Deficiencies, Glucocerebrosidase Deficiency, Glucocerebrosidase Glucocerebrosidase Deficiencies Glucocerebrosidase Deficiency Disease Deficiency Disease, Glucocerebrosidase Deficiency Diseases, Glucocerebrosidase Disease, Glucocerebrosidase Deficiency Diseases, Glucocerebrosidase Deficiency Glucocerebrosidase Deficiency Diseases Glucosylceramide Beta-Glucosidase Deficiency Disease Glucosylceramide Beta Glucosidase Deficiency Disease Acid beta-Glucosidase Deficiency Acid beta Glucosidase Deficiency Acid beta-Glucosidase Deficiencies Deficiencies, Acid beta-Glucosidase Deficiency, Acid beta-Glucosidase Gaucher's Disease Disease, Gaucher's Gauchers Disease Gaucher Disease, Type 2 Gaucher Disease, Type 2 Gaucher Disease Type 2 Gaucher Disease, Acute Neuronopathic Gaucher Disease, Type II Gaucher Disease, Infantile Disease, Infantile Gaucher Gaucher Disease, Infantile Cerebral Infantile Gaucher Disease Type 2 Gaucher Disease Acute Neuronopathic Gaucher Disease Gaucher Disease, Acute Neuronopathic Type Gaucher Disease, Type 3 Gaucher Disease, Type 3 Gaucher Disease Type 3 Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile Disease, Juvenile Gaucher Juvenile Gaucher Disease Type 3 Gaucher Disease Gaucher Disease, Neuronopathic Disease, Neuronopathic Gaucher Gaucher Disease, Subacute Neuronopathic Form Gaucher Disease, Subacute Neuronopathic Type Neuronopathic Gaucher Disease Subacute Neuronopathic Gaucher Disease Gaucher Disease, Type III Gaucher Disease, Juvenile and Adult, Cerebral Gaucher Disease, Type 1 Gaucher Disease, Type 1 Gaucher Disease Type 1 Gaucher Disease, Chronic GBA Deficiency Deficiencies, GBA Deficiency, GBA GBA Deficiencies Gaucher Disease, Noncerebral Juvenile Gaucher Disease, Type I Non-Neuronopathic Gaucher Disease Disease, Non-Neuronopathic Gaucher Gaucher Disease, Non-Neuronopathic Non Neuronopathic Gaucher Disease Type 1 Gaucher Disease Chronic Gaucher Disease Disease, Chronic Gaucher Gaucher Disease, Non-Neuronopathic Form Gaucher Disease, Non Neuronopathic Form

Below are MeSH descriptors whose meaning is more general than "Gaucher Disease".

Below are MeSH descriptors whose meaning is related to "Gaucher Disease".

Below are MeSH descriptors whose meaning is more specific than "Gaucher Disease".