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Disease Sandhoff Disease

Name Sandhoff Disease
Synonyms Adult Sandhoff Disease | beta-Hexosaminidase-beta-Subunit Deficiencies | beta Hexosaminidase beta Subunit Deficiency | beta-Hexosaminidase-beta-Subunit Deficiency | Deficiencies, beta-Hexosaminidase-beta-Subunit | Deficiencies, Total Hexosaminidase | Deficiency, beta-Hexosaminidase-beta-Subunit | Deficiency Disease, Hexosaminidase A and B | Deficiency, Total Hexosaminidase | Disease, Sandhoff-Jatzkewitz-Pilz | Gangliosidosis G(M2), Type II | Gangliosidosis GM2, Type II | GM2-Gangliosidoses, Type II | GM2 Gangliosidosis, Type 2 | G(M2) Gangliosidosis, Type II | GM2 Gangliosidosis, Type II | GM2-Gangliosidosis, Type II | Hexosaminidase A and B Deficiency Disease | Hexosaminidase Deficiencies, Total | Hexosaminidase Deficiency, Total | Hexosaminidases A And B Deficiency | HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED | Infantile Sandhoff Disease | Juvenile Sandhoff Disease | Sandhoff Disease, Adult | Sandhoff Disease, Infantile | SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED | Sandhoff Disease, Juvenile | SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED | Sandhoff Jatzkewitz Pilz Disease | Sandhoff-Jatzkewitz-Pilz Disease | Sandhoff's Disease | Sandhoffs Disease | Total Hexosaminidase Deficiencies | Total Hexosaminidase Deficiency | Type II GM2-Gangliosidoses | Type II GM2-Gangliosidosis
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D012497
OMIM® ID 268800
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Sandhoff Disease Has associated chemicals Has associated genes

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Sandhoff Disease Has associated chemicals Has associated genes
  Sandhoff Disease, Adult Type
  Sandhoff Disease, Infantile Type
  Sandhoff Disease, Juvenile Type