MeSH Browser

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; C18.452.584.563.641.803.441; C18.452.648.189.435.825.400; C18.452.648.398.641.803.441; C18.452.648.595.554.825.400
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: 2021/07/01

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]
        
        Fabry Disease [C10.228.140.163.100.435.825.200]
        
        Farber Lipogranulomatosis [C10.228.140.163.100.435.825.250]
        
        Gangliosidoses [C10.228.140.163.100.435.825.300]
        
        Gaucher Disease [C10.228.140.163.100.435.825.400]
        
        Leukodystrophy, Globoid Cell [C10.228.140.163.100.435.825.590]
        
        Niemann-Pick Diseases [C10.228.140.163.100.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C10.228.140.163.100.435.825.775]
        
        Sulfatidosis [C10.228.140.163.100.435.825.850]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Sphingolipidoses [C16.320.565.189.435.825]
        
        Fabry Disease [C16.320.565.189.435.825.200]
        
        Farber Lipogranulomatosis [C16.320.565.189.435.825.250]
        
        Gangliosidoses [C16.320.565.189.435.825.300]
        
        Gaucher Disease [C16.320.565.189.435.825.400]
        
        Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
        
        Niemann-Pick Diseases [C16.320.565.189.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.189.435.825.775]
        
        Sulfatidosis [C16.320.565.189.435.825.850]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lipid Metabolism, Inborn Errors [C16.320.565.398]
      - Lipidoses [C16.320.565.398.641]
        
        Sphingolipidoses [C16.320.565.398.641.803]
        
        Fabry Disease [C16.320.565.398.641.803.300]
        
        Farber Lipogranulomatosis [C16.320.565.398.641.803.325]
        
        Gangliosidoses [C16.320.565.398.641.803.350]
        
        Gaucher Disease [C16.320.565.398.641.803.441]
        
        Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
        
        Niemann-Pick Diseases [C16.320.565.398.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.398.641.803.850]
        
        Sulfatidosis [C16.320.565.398.641.803.925]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Sphingolipidoses [C16.320.565.595.554.825]
        
        Fabry Disease [C16.320.565.595.554.825.200]
        
        Farber Lipogranulomatosis [C16.320.565.595.554.825.250]
        
        Gangliosidoses [C16.320.565.595.554.825.300]
        
        Gaucher Disease [C16.320.565.595.554.825.400]
        
        Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
        
        Niemann-Pick Diseases [C16.320.565.595.554.825.700]
        
        Sea-Blue Histiocyte Syndrome [C16.320.565.595.554.825.775]
        
        Sulfatidosis [C16.320.565.595.554.825.850]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Sphingolipidoses [C18.452.132.100.435.825]
        
        Fabry Disease [C18.452.132.100.435.825.200]
        
        Farber Lipogranulomatosis [C18.452.132.100.435.825.250]
        
        Gangliosidoses [C18.452.132.100.435.825.300]
        
        Gaucher Disease [C18.452.132.100.435.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.132.100.435.825.590]
        
        Niemann-Pick Diseases [C18.452.132.100.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.132.100.435.825.775]
        
        Sulfatidosis [C18.452.132.100.435.825.850]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Lipid Metabolism Disorders [C18.452.584]
    - Lipid Metabolism, Inborn Errors [C18.452.584.563]
      - Lipidoses [C18.452.584.563.641]
        
        Sphingolipidoses [C18.452.584.563.641.803]
        
        Fabry Disease [C18.452.584.563.641.803.300]
        
        Farber Lipogranulomatosis [C18.452.584.563.641.803.325]
        
        Gangliosidoses [C18.452.584.563.641.803.350]
        
        Gaucher Disease [C18.452.584.563.641.803.441]
        
        Leukodystrophy, Globoid Cell [C18.452.584.563.641.803.585]
        
        Niemann-Pick Diseases [C18.452.584.563.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C18.452.584.563.641.803.850]
        
        Sulfatidosis [C18.452.584.563.641.803.925]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Sphingolipidoses [C18.452.648.189.435.825]
        
        Fabry Disease [C18.452.648.189.435.825.200]
        
        Farber Lipogranulomatosis [C18.452.648.189.435.825.250]
        
        Gangliosidoses [C18.452.648.189.435.825.300]
        
        Gaucher Disease [C18.452.648.189.435.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.648.189.435.825.590]
        
        Niemann-Pick Diseases [C18.452.648.189.435.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.189.435.825.775]
        
        Sulfatidosis [C18.452.648.189.435.825.850]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lipid Metabolism, Inborn Errors [C18.452.648.398]
      - Lipidoses [C18.452.648.398.641]
        
        Sphingolipidoses [C18.452.648.398.641.803]
        
        Fabry Disease [C18.452.648.398.641.803.300]
        
        Farber Lipogranulomatosis [C18.452.648.398.641.803.325]
        
        Gangliosidoses [C18.452.648.398.641.803.350]
        
        Gaucher Disease [C18.452.648.398.641.803.441]
        
        Leukodystrophy, Globoid Cell [C18.452.648.398.641.803.585]
        
        Niemann-Pick Diseases [C18.452.648.398.641.803.730]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.398.641.803.850]
        
        Sulfatidosis [C18.452.648.398.641.803.925]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Sphingolipidoses [C18.452.648.595.554.825]
        
        Fabry Disease [C18.452.648.595.554.825.200]
        
        Farber Lipogranulomatosis [C18.452.648.595.554.825.250]
        
        Gangliosidoses [C18.452.648.595.554.825.300]
        
        Gaucher Disease [C18.452.648.595.554.825.400]
        
        Leukodystrophy, Globoid Cell [C18.452.648.595.554.825.590]
        
        Niemann-Pick Diseases [C18.452.648.595.554.825.700]
        
        Sea-Blue Histiocyte Syndrome [C18.452.648.595.554.825.775]
        
        Sulfatidosis [C18.452.648.595.554.825.850]

Gaucher Disease Preferred

Concept UI: M0009048
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.
Terms: Gaucher Disease Preferred Term
Term UI T017404
Date11/03/1999
LexicalTag EPO
ThesaurusID; Glucocerebrosidase Deficiency
Term UI T782941
Date12/28/2010
LexicalTag NON
ThesaurusID; Gauchers Disease
Term UI T841479
Date04/18/2013
LexicalTag NON
ThesaurusID NLM (2014); Glucocerebrosidosis
Term UI T841480
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Glucosyl Cerebroside Lipidosis
Term UI T841481
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Glucosylceramidase Deficiency
Term UI T841482
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Glucosylceramide Beta-Glucosidase Deficiency
Term UI T841483
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Glucosylceramide Lipidosis
Term UI T841484
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Kerasin Histiocytosis
Term UI T841485
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Kerasin Lipoidosis
Term UI T841486
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Kerasin thesaurismosis
Term UI T841487
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Lipoid Histiocytosis (Kerasin Type)
Term UI T841488
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Gaucher's Disease
Term UI T017405
Date01/01/1999
LexicalTag EPO
ThesaurusID; Cerebroside Lipidosis Syndrome
Term UI T368308
Date11/03/1999
LexicalTag NON
ThesaurusID; Glucocerebrosidase Deficiency Disease
Term UI T368309
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Glucosylceramide Beta-Glucosidase Deficiency Disease
Term UI T368310
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Acid beta-Glucosidase Deficiency Disease
Term UI T647675
Date08/01/2005
LexicalTag NON
ThesaurusID NLM (2007); Acid beta-Glucosidase Deficiency
Term UI T770091
Date04/22/2010
LexicalTag NON
ThesaurusID; Gaucher Splenomegaly
Term UI T841477
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014); Gaucher Syndrome
Term UI T841478
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014)

Gaucher Disease, Type 3 Narrower

Gaucher Disease, Type 1 Narrower

Concept UI: M0335236
Scope Note: This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry.
Terms: Gaucher Disease, Type 1 Preferred Term
Term UI T368328
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Gaucher Disease, Chronic
Term UI T368318
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Gaucher Disease, Non-Neuronopathic Form
Term UI T368329
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); GBA Deficiency
Term UI T824500
Date06/21/2012
LexicalTag ABX
ThesaurusID OMIM (2013); Type 1 Gaucher Disease
Term UI T368338
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Gaucher Disease Type 1
Term UI T750612
Date05/05/2009
LexicalTag EPO
ThesaurusID; Gaucher Disease, Noncerebral Juvenile
Term UI T782942
Date12/28/2010
LexicalTag EPO
ThesaurusID; Gaucher Disease, Type I
Term UI T812687
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Chronic Gaucher Disease
Term UI T368316
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Non-Neuronopathic Gaucher Disease
Term UI T368337
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Gaucher Disease, Type 2 Narrower

Gaucher Disease MeSH Descriptor Data 2023