"Sandhoff Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D012497
|
| MeSH 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 C18.452.584.687.803.350.300.700 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
|
| Concept/Terms |
Sandhoff Disease- Sandhoff Disease
- Deficiency Disease, Hexosaminidase A and B
- Gangliosidosis G(M2), Type II
- Gangliosidosis GM2, Type II
- GM2-Gangliosidosis, Type II
- GM2-Gangliosidoses, Type II
- Type II GM2-Gangliosidoses
- Type II GM2-Gangliosidosis
- GM2 Gangliosidosis, Type II
- Hexosaminidase A and B Deficiency Disease
- Hexosaminidases A And B Deficiency
- Sandhoff's Disease
- Sandhoffs Disease
- Sandhoff-Jatzkewitz-Pilz Disease
- Disease, Sandhoff-Jatzkewitz-Pilz
- Sandhoff Jatzkewitz Pilz Disease
- G(M2) Gangliosidosis, Type II
- GM2 Gangliosidosis, Type 2
Total Hexosaminidase Deficiency- Total Hexosaminidase Deficiency
- Deficiencies, Total Hexosaminidase
- Deficiency, Total Hexosaminidase
- Hexosaminidase Deficiencies, Total
- Hexosaminidase Deficiency, Total
- Total Hexosaminidase Deficiencies
- beta-Hexosaminidase-beta-Subunit Deficiency
- Deficiencies, beta-Hexosaminidase-beta-Subunit
- Deficiency, beta-Hexosaminidase-beta-Subunit
- beta Hexosaminidase beta Subunit Deficiency
- beta-Hexosaminidase-beta-Subunit Deficiencies
|
Below are MeSH descriptors whose meaning is more general than "Sandhoff Disease".
- Diseases [C]
- 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]
- 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]
- 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]
- 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]
- 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]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Gangliosidoses [C18.452.584.687.803.350]
- Gangliosidoses, GM2 [C18.452.584.687.803.350.300]
- Sandhoff Disease [C18.452.584.687.803.350.300.700]
- 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]
- 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]
- 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]
Below are MeSH descriptors whose meaning is more specific than "Sandhoff Disease".
This graph shows the total number of publications written about "Sandhoff Disease" by people in this website by year, and whether "Sandhoff Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 0 | 1 | 1 |
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click here.
Below are the most recent publications written about "Sandhoff Disease" by people in Profiles.
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Pre-embryonic diagnosis for Sandhoff disease. Reprod Biomed Online. 2006 Mar; 12(3):328-33.
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GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. Vet Rec. 2004 Dec 04; 155(23):739-44.
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26.
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Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). J Biol Chem. 1986 Sep 25; 261(27):12680-5.
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Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A. 1985 Feb; 82(4):1184-8.