MeSH Browser

MeSH Heading: Sandhoff Disease
Tree Number(s): C10.228.140.163.100.435.825.300.300.249; C16.320.565.189.435.825.300.300.249; C16.320.565.398.641.803.350.300.700; C16.320.565.595.554.825.300.300.800; C18.452.132.100.435.825.300.300.249; C18.452.584.563.641.803.350.300.700; C18.452.648.189.435.825.300.300.249; C18.452.648.398.641.803.350.300.700; C18.452.648.595.554.825.300.300.800
Unique ID: D012497
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D012497
Scope Note: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
Entry Version: SANDHOFF DIS
Entry Term(s): Adult Sandhoff Disease; Deficiency Disease, Hexosaminidase A and B; G(M2) Gangliosidosis, Type II; GM2 Gangliosidosis, Type 2; GM2 Gangliosidosis, Type II; GM2-Gangliosidosis, Type II; Gangliosidosis G(M2), Type II; Gangliosidosis GM2, Type II; Hexosaminidase A and B Deficiency Disease; Hexosaminidases A And B Deficiency; Infantile Sandhoff Disease; Juvenile Sandhoff Disease; Sandhoff Disease, Adult; Sandhoff Disease, Adult Type; Sandhoff Disease, Infantile; Sandhoff Disease, Infantile Type; Sandhoff Disease, Juvenile; Sandhoff Disease, Juvenile Type; Sandhoff's Disease; Sandhoff-Jatzkewitz-Pilz Disease; Total Hexosaminidase Deficiency; beta-Hexosaminidase-beta-Subunit Deficiency
Previous Indexing: Gangliosides (1966-1978); Gangliosidosis (1976-1978); G(M2) Ganglioside (1975-1978); Hexosaminidases (1971-1978); Lipoidosis (1966-1978); Sphingolipidosis (1974-1978)
See Also: beta-N-Acetylhexosaminidases
Public MeSH Note: 1979
History Note: 1979
Date Established: 1979/01/01
Date of Entry: 1978/05/22
Revision Date: 2021/06/02

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]
        
        Sandhoff Disease [C10.228.140.163.100.435.825.300.300.249]
        
        Tay-Sachs Disease [C10.228.140.163.100.435.825.300.300.500]
        
        Tay-Sachs Disease, AB Variant [C10.228.140.163.100.435.825.300.300.750]

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]
        
        Sandhoff Disease [C16.320.565.189.435.825.300.300.249]
        
        Tay-Sachs Disease [C16.320.565.189.435.825.300.300.500]
        
        Tay-Sachs Disease, AB Variant [C16.320.565.189.435.825.300.300.750]

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]
        
        Sandhoff Disease [C16.320.565.398.641.803.350.300.700]
        
        Tay-Sachs Disease [C16.320.565.398.641.803.350.300.850]
        
        Tay-Sachs Disease, AB Variant [C16.320.565.398.641.803.350.300.925]

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]
        
        Gangliosidoses [C16.320.565.595.554.825.300]
        
        Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
        
        Sandhoff Disease [C16.320.565.595.554.825.300.300.800]
        
        Tay-Sachs Disease [C16.320.565.595.554.825.300.300.840]
        
        Tay-Sachs Disease, AB Variant [C16.320.565.595.554.825.300.300.920]

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]
        
        Sandhoff Disease [C18.452.132.100.435.825.300.300.249]
        
        Tay-Sachs Disease [C18.452.132.100.435.825.300.300.500]
        
        Tay-Sachs Disease, AB Variant [C18.452.132.100.435.825.300.300.750]

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]
        
        Sandhoff Disease [C18.452.584.563.641.803.350.300.700]
        
        Tay-Sachs Disease [C18.452.584.563.641.803.350.300.850]
        
        Tay-Sachs Disease, AB Variant [C18.452.584.563.641.803.350.300.925]

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]
        
        Gangliosidoses [C18.452.648.189.435.825.300]
        
        Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
        
        Sandhoff Disease [C18.452.648.189.435.825.300.300.249]
        
        Tay-Sachs Disease [C18.452.648.189.435.825.300.300.500]
        
        Tay-Sachs Disease, AB Variant [C18.452.648.189.435.825.300.300.750]

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]
        
        Sandhoff Disease [C18.452.648.398.641.803.350.300.700]
        
        Tay-Sachs Disease [C18.452.648.398.641.803.350.300.850]
        
        Tay-Sachs Disease, AB Variant [C18.452.648.398.641.803.350.300.925]

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]
        
        Gangliosidoses [C18.452.648.595.554.825.300]
        
        Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
        
        Sandhoff Disease [C18.452.648.595.554.825.300.300.800]
        
        Tay-Sachs Disease [C18.452.648.595.554.825.300.300.840]
        
        Tay-Sachs Disease, AB Variant [C18.452.648.595.554.825.300.300.920]

Sandhoff Disease Preferred

Concept UI: M0019413
Scope Note: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
Terms: Sandhoff Disease Preferred Term
Term UI T037091
Date01/01/1999
LexicalTag EPO
ThesaurusID; Deficiency Disease, Hexosaminidase A and B
Term UI T370108
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Gangliosidosis G(M2), Type II
Term UI T037088
Date05/22/1978
LexicalTag NON
ThesaurusID UNK (19XX); Gangliosidosis GM2, Type II
Term UI T037089
Date10/18/1990
LexicalTag NON
ThesaurusID NLM (1992); GM2 Gangliosidosis, Type 2
Term UI T752570
Date06/10/2009
LexicalTag NON
ThesaurusID; GM2 Gangliosidosis, Type II
Term UI T370109
Date11/03/1999
LexicalTag NON
ThesaurusID; Hexosaminidase A and B Deficiency Disease
Term UI T370107
Date11/03/1999
LexicalTag NON
ThesaurusID; Hexosaminidases A And B Deficiency
Term UI T811881
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Sandhoff's Disease
Term UI T037090
Date09/12/1990
LexicalTag EPO
ThesaurusID NLM (1992); Sandhoff-Jatzkewitz-Pilz Disease
Term UI T752569
Date06/10/2009
LexicalTag EPO
ThesaurusID; G(M2) Gangliosidosis, Type II
Term UI T037087
Date10/18/1990
LexicalTag NON
ThesaurusID NLM (1992); GM2-Gangliosidosis, Type II
Term UI T824585
Date06/22/2012
LexicalTag ABX
ThesaurusID OMIM (2013)

Adult Sandhoff Disease Narrower

Infantile Sandhoff Disease Narrower

Juvenile Sandhoff Disease Narrower

Total Hexosaminidase Deficiency Related

Sandhoff Disease MeSH Descriptor Data 2024