MeSH Browser

MeSH Heading: Gangliosidosis, GM1
Tree Number(s): C10.228.140.163.100.435.825.300.400; C16.320.565.189.435.825.300.400; C16.320.565.398.641.803.350.360; C16.320.565.595.554.825.300.400; C18.452.132.100.435.825.300.400; C18.452.584.563.641.803.350.360; C18.452.648.189.435.825.300.400; C18.452.648.398.641.803.350.360; C18.452.648.595.554.825.300.400
Unique ID: D016537
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D016537
Scope Note: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
Entry Term(s): Adult GM1 Gangliosidosis; Beta-Galactosidase-1 (GLB1) Deficiency; Beta-Galactosidase-1 Deficiency Disease; Beta-Galactosidosis; G(M1) Gangliosidosis; GLB1 Deficiency; GM1 Gangliosidosis; GM1-Gangliosidosis, Type I; GM1-Gangliosidosis, Type II; GM1-Gangliosidosis, Type III; Gangliosidosis G(M1); Gangliosidosis GM1; Gangliosidosis GM1 Type 3; Gangliosidosis GM1, Adult; Gangliosidosis GM1, Infantile; Gangliosidosis GM1, Juvenile; Gangliosidosis GM1, Type 1; Gangliosidosis GM1, Type 2; Gangliosidosis GM1, Type 3; Gangliosidosis Generalized GM1, Type 1; Gangliosidosis, Generalized GM1 Type 2; Gangliosidosis, Generalized GM1, Adult Type; Gangliosidosis, Generalized GM1, Chronic Type; Gangliosidosis, Generalized GM1, Infantile Form; Gangliosidosis, Generalized GM1, Juvenile Type; Gangliosidosis, Generalized GM1, Type 1; Gangliosidosis, Generalized GM1, Type 2; Gangliosidosis, Generalized GM1, Type 3; Gangliosidosis, Generalized GM1, Type I; Gangliosidosis, Generalized GM1, Type II; Gangliosidosis, Generalized GM1, Type III; Generalized Gangliosidosis; Type 3 (Adult) GM1 Gangliosidosis; beta Galactosidase 1 Deficiency; beta Galactosidase Deficiency; beta-Galactosidase Deficiency; beta-Galactosidase-1 Deficiency
Previous Indexing: Gangliosidoses (1976-1991); Lipoidosis (1966-1975); Metabolism, Inborn Errors (1966-1975)
See Also: beta-Galactosidase
Public MeSH Note: 2007; see GANGIOSIDOSIS GM1 2000-2006, see GANGLIOSIDOSIS G(M1) 1992-1999
History Note: 2007(1992)
Date Established: 1992/01/01
Date of Entry: 1991/06/21
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]
        
        Gangliosidoses [C10.228.140.163.100.435.825.300]
        
        Gangliosidoses, GM2 [C10.228.140.163.100.435.825.300.300]
        
        Gangliosidosis, GM1 [C10.228.140.163.100.435.825.300.400]

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]
        
        Gangliosidoses [C16.320.565.189.435.825.300]
        
        Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
        
        Gangliosidosis, GM1 [C16.320.565.189.435.825.300.400]

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]
        
        Gangliosidoses [C16.320.565.398.641.803.350]
        
        Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
        
        Gangliosidosis, GM1 [C16.320.565.398.641.803.350.360]

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]
        
        Gangliosidoses [C16.320.565.595.554.825.300]
        
        Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
        
        Gangliosidosis, GM1 [C16.320.565.595.554.825.300.400]

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]
        
        Gangliosidoses [C18.452.132.100.435.825.300]
        
        Gangliosidoses, GM2 [C18.452.132.100.435.825.300.300]
        
        Gangliosidosis, GM1 [C18.452.132.100.435.825.300.400]

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]
        
        Gangliosidoses [C18.452.584.563.641.803.350]
        
        Gangliosidoses, GM2 [C18.452.584.563.641.803.350.300]
        
        Gangliosidosis, GM1 [C18.452.584.563.641.803.350.360]

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]
        
        Gangliosidoses [C18.452.648.189.435.825.300]
        
        Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
        
        Gangliosidosis, GM1 [C18.452.648.189.435.825.300.400]

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]
        
        Gangliosidoses [C18.452.648.398.641.803.350]
        
        Gangliosidoses, GM2 [C18.452.648.398.641.803.350.300]
        
        Gangliosidosis, GM1 [C18.452.648.398.641.803.350.360]

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]
        
        Gangliosidoses [C18.452.648.595.554.825.300]
        
        Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
        
        Gangliosidosis, GM1 [C18.452.648.595.554.825.300.400]

Gangliosidosis, GM1 Preferred

Concept UI: M0025239
Scope Note: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
Terms: Gangliosidosis, GM1 Preferred Term
Term UI T647098
Date07/27/2005
LexicalTag NON
ThesaurusID NLM (2007); Gangliosidosis G(M1)
Term UI T049483
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1992); Gangliosidosis GM1
Term UI T049484
Date09/13/1990
LexicalTag NON
ThesaurusID NLM (1992); G(M1) Gangliosidosis
Term UI T049482
Date10/18/1990
LexicalTag NON
ThesaurusID NLM (1992); Beta-Galactosidase-1 Deficiency Disease
Term UI T647099
Date07/27/2005
LexicalTag NON
ThesaurusID NLM (2007); Beta-Galactosidosis
Term UI T841536
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); GM1 Gangliosidosis
Term UI T049485
Date11/16/1990
LexicalTag NON
ThesaurusID

Gangliosidosis, Generalized GM1, Type 3 Narrower

Gangliosidosis, Generalized GM1, Type 1 Narrower

Gangliosidosis, Generalized GM1, Type 2 Narrower

beta-Galactosidase Deficiency Related

Gangliosidosis, GM1 MeSH Descriptor Data 2024