"Tay-Sachs 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 the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Descriptor ID |
D013661
|
MeSH Number(s) |
C10.228.140.163.100.435.825.300.300.500 C16.320.565.189.435.825.300.300.500 C16.320.565.398.641.803.350.300.850 C16.320.565.595.554.825.300.300.840 C18.452.132.100.435.825.300.300.500 C18.452.584.687.803.350.300.850 C18.452.648.189.435.825.300.300.500 C18.452.648.398.641.803.350.300.850 C18.452.648.595.554.825.300.300.840
|
Concept/Terms |
Tay-Sachs Disease- Tay-Sachs Disease
- Tay Sachs Disease
- GM2 Gangliosidosis, Type I
- Tay-Sachs Disease, B Variant
- Tay Sachs Disease, B Variant
- GM2-Gangliosidosis, Type I
- Type I GM2-Gangliosidosis
- B Variant GM2 Gangliosidosis
- B Variant GM2-Gangliosidosis
- B Variant GM2-Gangliosidoses
- GM2-Gangliosidosis, B Variant
- Deficiency Disease Hexosaminidase A
- G(M2) Gangliosidosis, Type I
- Gangliosidosis G(M2), Type I
- Gangliosidosis GM2 , Type 1
- Gangliosidosis GM2, B Variant
- Gangliosidosis GM2, Type I
- GM2 Gangliosidosis, B Variant
- GM2 Gangliosidosis, Type 1
- Hexosaminidase A Deficiency Disease
- Sphingolipidosis, Tay-Sachs
- Sphingolipidosis, Tay Sachs
- Tay-Sachs Sphingolipidosis
Hexosaminidase alpha-Subunit Deficiency (Variant B)- Hexosaminidase alpha-Subunit Deficiency (Variant B)
- Deficiency, Hexosaminidase alpha-Subunit (Variant B)
- Hexosaminidase alpha Subunit Deficiency (Variant B)
- Hexosaminidase A Deficiency
- Deficiency, Hexosaminidase A
- HexA Deficiency
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Below are MeSH descriptors whose meaning is more general than "Tay-Sachs 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]
- Tay-Sachs Disease [C10.228.140.163.100.435.825.300.300.500]
- 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]
- Tay-Sachs Disease [C16.320.565.189.435.825.300.300.500]
- 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]
- Tay-Sachs Disease [C16.320.565.398.641.803.350.300.850]
- 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]
- Tay-Sachs Disease [C16.320.565.595.554.825.300.300.840]
- 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]
- Tay-Sachs Disease [C18.452.132.100.435.825.300.300.500]
- 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]
- Tay-Sachs Disease [C18.452.584.687.803.350.300.850]
- 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]
- Tay-Sachs Disease [C18.452.648.189.435.825.300.300.500]
- 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]
- Tay-Sachs Disease [C18.452.648.398.641.803.350.300.850]
- 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]
- Tay-Sachs Disease [C18.452.648.595.554.825.300.300.840]
Below are MeSH descriptors whose meaning is more specific than "Tay-Sachs Disease".
This graph shows the total number of publications written about "Tay-Sachs Disease" by people in this website by year, and whether "Tay-Sachs 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 |
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2006 | 1 | 1 | 2 |
2011 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Tay-Sachs Disease" by people in Profiles.
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Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy. Curr Mol Med. 2015; 15(2):138-45.
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A re-examination of the use of ethnicity in prenatal carrier testing. Am J Med Genet A. 2012 Jan; 158A(1):19-23.
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Synthesis and enzymatic susceptibility of a series of novel GM2 analogs. Glycoconj J. 2006 Jul; 23(5-6):329-43.
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Heterozygote carrier testing in high schools abroad: what are the lessons for the U.S.? J Law Med Ethics. 2006; 34(4):753-64.
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Achalasia in a patient with adult-onset Tay-Sachs disease. Dig Dis Sci. 2006 Jan; 51(1):132-7.
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Contraindications to the use of antipsychotic drugs. Am J Psychiatry. 1993 Nov; 150(11):1753-4.
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Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J Biol Chem. 1986 Jun 25; 261(18):8407-13.
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The prenatal diagnosis of genetic disorders. Clin Obstet Gynecol. 1982 Dec; 25(4):635-58.