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Gaucher Disease MeSH Descriptor Data 2021


MeSH Heading
Gaucher Disease
Tree 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
Unique ID
D005776
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D005776
Scope Note
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.
Entry Version
GAUCHER DIS
Entry Term(s)
Acid beta-Glucosidase Deficiency
Acid beta-Glucosidase Deficiency Disease
Acute Neuronopathic Gaucher Disease
Cerebroside Lipidosis Syndrome
Chronic Gaucher Disease
GBA Deficiency
Gaucher Disease Type 1
Gaucher Disease Type 2
Gaucher Disease Type 3
Gaucher Disease, Acute Neuronopathic
Gaucher Disease, Acute Neuronopathic Type
Gaucher Disease, Chronic
Gaucher Disease, Chronic Neuronopathic Type
Gaucher Disease, Infantile
Gaucher Disease, Infantile Cerebral
Gaucher Disease, Juvenile
Gaucher Disease, Juvenile and Adult, Cerebral
Gaucher Disease, Neuronopathic
Gaucher Disease, Non-Neuronopathic Form
Gaucher Disease, Noncerebral Juvenile
Gaucher Disease, Subacute Neuronopathic Form
Gaucher Disease, Subacute Neuronopathic Type
Gaucher Disease, Type 1
Gaucher Disease, Type 2
Gaucher Disease, Type 3
Gaucher Disease, Type I
Gaucher Disease, Type II
Gaucher Disease, Type III
Gaucher Splenomegaly
Gaucher Syndrome
Gaucher's Disease
Gauchers Disease
Glucocerebrosidase Deficiency
Glucocerebrosidase Deficiency Disease
Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis
Glucosylceramidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency Disease
Glucosylceramide Lipidosis
Infantile Gaucher Disease
Kerasin Histiocytosis
Kerasin Lipoidosis
Kerasin thesaurismosis
Lipoid Histiocytosis (Kerasin Type)
Neuronopathic Gaucher Disease
Non-Neuronopathic Gaucher Disease
Subacute Neuronopathic Gaucher Disease
Type 1 Gaucher Disease
Type 2 Gaucher Disease
Type 3 Gaucher Disease
NLM Classification #
QU 265.5.L5
See Also
Glucosylceramidase
Public MeSH Note
2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999
History Note
2000(1966)
Date Established
2000/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Gaucher Disease Preferred
Gaucher Disease, Type 3 Narrower
Gaucher Disease, Type 1 Narrower
Gaucher Disease, Type 2 Narrower
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