Fabry Disease

An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Also Known As:

Fabry's Disease; Anderson Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Angiokeratoma, Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Hereditary Dystopic Lipidosis; alpha-Galactosidase A Deficiency; alpha-Galactosidase A Deficiency Disease; Deficiency, Ceramide Trihexosidase; Deficiency, GLA; Deficiency, alpha-Galactosidase A; Diffuse Angiokeratoma; Lipidosis, Hereditary Dystopic; alpha Galactosidase A Deficiency; alpha Galactosidase A Deficiency Disease; Anderson-Fabry Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebrovascular Disorders: 7559
      - Cerebral Small Vessel Diseases: 621
        Fabry Disease: 2915
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Fabry Disease: 2915
Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Cerebrovascular Disorders: 7559
    - Cerebral Small Vessel Diseases: 621
      - Fabry Disease: 2915
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
        Fabry Disease: 2915
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Fabry Disease: 2915
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Fabry Disease: 2915
  - X-Linked Genetic Diseases: 42
    - Fabry Disease: 2915
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Fabry Disease: 2915
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Fabry Disease: 2915
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Fabry Disease: 2915
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Fabry Disease: 2915
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Fabry Disease: 2915

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