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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > 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 > Lipid Metabolism, Inborn Errors > Lipidoses > 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
... > 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 > 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 > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > 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

Terme préférentiel

Sandhoff Disease  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Deficiency Disease, Hexosaminidase A and B
  • Gangliosidosis G(M2), Type II
  • Gangliosidosis GM2, 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's Disease

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Sandhoff

    français

  • Déficit en hexosaminidases A et B
  • Gangliosidose à GM2 de type 2
  • Gangliosidose à GM2 de type II
  • Gangliosidose à GM2 variante O
  • Maladie de Sandhoff variante O
  • Sphingolipidose héréditaire de Sandhoff
  • Variante O de la maladie de Sandhoff

URI

http://data.loterre.fr/ark:/67375/JVR-ZF44ZBH9-H

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RDF/XML TURTLE JSON-LD Date de création 22/05/1978, dernière modification le 02/06/2021