Sandhoff Disease

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.

Also Known As:

Sandhoff's Disease; Adult Sandhoff Disease; Deficiency Disease, Hexosaminidase A and B; GM2 Gangliosidosis, Type 2; GM2 Gangliosidosis, Type II; GM2-Gangliosidosis, Type II; Gangliosidosis GM2, Type II; Hexosaminidases A And B Deficiency; Infantile Sandhoff Disease; Juvenile Sandhoff Disease; Sandhoff Disease, Adult; Sandhoff Disease, Adult Type; Sandhoff Disease, Infantile; Sandhoff Disease, Infantile Type; Sandhoff Disease, Juvenile; Sandhoff Disease, Juvenile Type; Sandhoff-Jatzkewitz-Pilz Disease; Total Hexosaminidase Deficiency; beta-Hexosaminidase-beta-Subunit Deficiency; Deficiency, Total Hexosaminidase; Deficiency, beta-Hexosaminidase-beta-Subunit; Disease, Sandhoff-Jatzkewitz-Pilz; GM2-Gangliosidoses, Type II; Hexosaminidase Deficiency, Total; Sandhoff Jatzkewitz Pilz Disease; Sandhoffs Disease; Total Hexosaminidase Deficiencies; Type II GM2-Gangliosidoses; Type II GM2-Gangliosidosis; beta Hexosaminidase beta Subunit Deficiency; beta-Hexosaminidase-beta-Subunit Deficiencies; G(M2) Gangliosidosis, Type II; Gangliosidosis G(M2), Type II; Hexosaminidase A and B Deficiency Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gangliosidoses: 139
        GM2 Gangliosidoses: 267
        Sandhoff Disease: 321

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