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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > 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 > Sandhoff Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Sandhoff Disease
... > 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 > Sandhoff Disease

Preferred term

Sandhoff Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Deficiency Disease, Hexosaminidase A and B
  • Disease, Sandhoff-Jatzkewitz-Pilz
  • Gangliosidosis G(M2), Type II
  • Gangliosidosis GM2, Type II
  • GM2-Gangliosidoses, Type II
  • GM2 Gangliosidosis, Type 2
  • GM2 Gangliosidosis, Type II
  • GM2-Gangliosidosis, Type II
  • G(M2) Gangliosidosis, Type II
  • Hexosaminidase A and B Deficiency Disease
  • Hexosaminidases A And B Deficiency
  • Sandhoff Jatzkewitz Pilz Disease
  • Sandhoff-Jatzkewitz-Pilz Disease
  • Sandhoff's Disease
  • Sandhoffs Disease
  • Type II GM2-Gangliosidoses
  • Type II GM2-Gangliosidosis

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.

History note

  • 1979

In other languages

URI

http://www.yso.fi/onto/mesh/D012497

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