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Tay-Sachs Disease
Definition: 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.

Synonym(s): G(M2) Gangliosidosis, Type I / Gangliosidosis G(M2), Type I / Gangliosidosis GM2, B Variant / Hexosaminidase A Deficiency Disease / Tay-Sachs Disease, B Variant / Amaurotic Familial Idiocy / B Variant GM2 Gangliosidosis / Deficiency Disease Hexosaminidase A / Familial Amaurotic Idiocy / GM2 Gangliosidosis, B Variant / GM2 Gangliosidosis, Type 1 / GM2 Gangliosidosis, Type I / Gangliosidosis GM2 , Type 1 / Gangliosidosis GM2, Type I / Hexosaminidase A Deficiency / Hexosaminidase alpha-Subunit Deficiency (Variant B) / Sphingolipidosis, Tay-Sachs / Amaurotic Idiocy, Familial / Deficiencies, Hexosaminidase A / Deficiencies, Hexosaminidase alpha-Subunit (Variant B) / Deficiency, Hexosaminidase A / Deficiency, Hexosaminidase alpha-Subunit (Variant B) / Hexosaminidase A Deficiencies / Hexosaminidase alpha Subunit Deficiency (Variant B) / Hexosaminidase alpha-Subunit Deficiencies (Variant B) / Idiocies, Familial Amaurotic / Sphingolipidosis, Tay Sachs / Tay Sachs Disease / Tay Sachs Disease, B Variant / Tay-Sachs Sphingolipidosis / alpha-Subunit Deficiencies, Hexosaminidase (Variant B) / alpha-Subunit Deficiency, Hexosaminidase (Variant B)
See also:
beta-N-Acetylhexosaminidases  Hexosaminidase A  G(M2) Ganglioside 

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Tay-Sachs disease?
Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system).
The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease ...

How common is Tay-Sachs disease?
Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. In recent years, however, screening for mutations and genetic counseling have made the condition much less frequent in this population.

The genetic mutations that cause Tay-Sachs disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of L ...

More information from the Genetics Home Reference Website
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  Web resources for "Tay-Sachs Disease"
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view the robot description of the site Learning About Tay-Sachs Diseasewww.genome.gov  
view the robot description of the site Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the HON description of the site HONcode - Tay-Sachs disease - Genetics Home Referenceghr.nlm.nih.gov 5
view the HON description of the site HONcode - Tay-Sachs Disease: MedlinePluswww.nlm.nih.gov 2
view the HON description of the site HONcode - Tay-Sachs Disease www.kidshealth.org 2
view the robot description of the site Whonamedit - Tay-Sachs diseasewww.whonamedit.com  
view the HON description of the site HONcode - Tay-Sachs diseasewww.healthcentral.com  
view the HON description of the site HONcode - autism | Health Topics | NutritionFacts.orgnutritionfacts.org  
view the robot description of the site Tay-Sachs Disease - Cedars-Sinaiwww.cedars-sinai.edu  
view the HON description of the site HONcode - Orphanet: Tay Sachs diseasewww.orpha.net  
view the HON description of the site HONcode - Tay-Sachs disease/otherwww.kumc.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the robot description of the site Targeting genes to control diseasewww.umanitoba.ca  
view the robot description of the site Genetic Health - Breast and Ovarian Cancer: Genetic Diseases in Ashkenazi Jews Untitled Document Untitled Documentwww.genetichealth.com  
view the HON description of the site HONcode - ASNOM - Association Amicale Santé Navale et d'Outre Merwww.asnom.org  
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See also: - beta-N-Acetylhexosaminidases

Broader term(s): - Gangliosidoses, GM2 - Gangliosidoses - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Lipid Metabolism Disorders
                      Lipidoses
                          Sphingolipidoses
                              Gangliosidoses
                                  Gangliosidoses, GM2 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses
                                  Gangliosidoses
                                      Gangliosidoses, GM2 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn
                              Lysosomal Storage Diseases, Nervous System
                                  Sphingolipidoses
                                      Gangliosidoses
                                          Gangliosidoses, GM2 

MeSH 2010 © U.S. National Library of Medicine®.

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