Gaucher Disease (Gaucher's Disease)
1262
relevant articles (57 outcomes,
101 trials/studies)
found for this Disease
Description:
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.
Also Known As:
Gaucher's Disease; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Infantile Gaucher Disease; Non-Neuronopathic Gaucher Disease; Subacute Neuronopathic Gaucher Disease; Type 2 Gaucher Disease; Type 3 Gaucher Disease; Gauchers Disease; Cerebroside Lipidosis Syndrome; Acid beta-Glucosidase Deficiency Disease; Acute Neuronopathic Gaucher Disease; Chronic Gaucher Disease; Gaucher Disease, Acute Neuronopathic; Gaucher Disease, Chronic; Gaucher Disease, Infantile; Gaucher Disease, Juvenile; Gaucher Disease, Neuronopathic; Gaucher Disease, Non-Neuronopathic Form; Gaucher Disease, Subacute Neuronopathic Form; Type 1 Gaucher Disease; Acid beta Glucosidase Deficiency Disease; Gaucher Disease, Non Neuronopathic Form; Gaucher Disease, Non-Neuronopathic; Glucocerebrosidase Deficiency Diseases; Glucosylceramide Beta Glucosidase Deficiency Disease; Juvenile Gaucher Disease; Non Neuronopathic Gaucher Disease; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease; Neuronopathic Gaucher Disease
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Disease Context: Research Results