Gaucher Disease (Gaucher's Disease)

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; Acid beta-Glucosidase Deficiency Disease; Acute Neuronopathic Gaucher Disease; Chronic Gaucher Disease; Gaucher Disease Type 3; 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; Acid beta Glucosidase Deficiency Disease; Acid beta-Glucosidase Deficiencies; Cerebroside Lipidosis Syndromes; Deficiencies, Acid beta-Glucosidase; Deficiency Disease, Glucocerebrosidase; Deficiency Diseases, Glucocerebrosidase; Deficiency, Acid beta-Glucosidase; Disease, Chronic Gaucher; Disease, Gaucher; Disease, Gaucher's; Disease, Glucocerebrosidase Deficiency; Disease, Infantile Gaucher; Disease, Juvenile Gaucher; Disease, Neuronopathic Gaucher; Disease, Non-Neuronopathic Gaucher; Diseases, Glucocerebrosidase Deficiency; Gaucher Disease, Non Neuronopathic Form; Gaucher Disease, Non-Neuronopathic; Glucocerebrosidase Deficiency Diseases; Glucosylceramide Beta Glucosidase Deficiency Disease; Juvenile Gaucher Disease; Lipidosis Syndrome, Cerebroside; Lipidosis Syndromes, Cerebroside; Non Neuronopathic Gaucher Disease; Syndrome, Cerebroside Lipidosis; Syndromes, Cerebroside Lipidosis; Gaucher Disease Type 1; Gaucher Disease Type 2; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease; Neuronopathic Gaucher Disease
Networked: 2055 relevant articles (108 outcomes, 165 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Thrombocytopenia (Thrombopenia)
2. Mucopolysaccharidoses
3. Fabry Disease (Fabry's Disease)
4. Globoid Cell Leukodystrophy (Krabbe Disease)
5. Metachromatic Leukodystrophy (Sulfatide Lipidosis)


1. Zimran, Ari: 78 articles (12/2015 - 01/2002)
2. Elstein, Deborah: 66 articles (12/2015 - 01/2002)
3. Sidransky, Ellen: 55 articles (08/2015 - 01/2002)
4. Grabowski, Gregory A: 52 articles (12/2015 - 01/2003)
5. Aerts, Johannes M F G: 38 articles (04/2015 - 07/2002)
6. Giraldo, Pilar: 32 articles (07/2015 - 07/2002)
7. Futerman, Anthony H: 28 articles (06/2015 - 11/2002)
8. Hollak, Carla E M: 28 articles (01/2014 - 01/2004)
9. Mistry, Pramod K: 27 articles (02/2015 - 10/2004)
10. Pastores, Gregory M: 24 articles (12/2014 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gaucher Disease:
1. Glucosylceramidase (Glucocerebrosidase)IBA
2. imiglucerase (Cerezyme)FDA Link
3. miglustat (Zavesca)FDA Link
4. alglucerase (Ceredase)FDA Link
5. Mannose (D-Mannose)IBA
6. Biological Markers (Surrogate Marker)IBA
7. EnzymesIBA
8. ceramide glucosyltransferaseIBA
9. chitotriosidaseIBA
10. Imino SugarsIBA

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Enzyme Therapy
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Splenectomy
5. Hepatectomy