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: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebrovascular Disorders: 7764
      - Cerebral Small Vessel Diseases: 676
        Fabry Disease: 2995
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995
Cardiovascular Diseases: 94258
- Vascular Diseases: 15340
  - Cerebrovascular Disorders: 7764
    - Cerebral Small Vessel Diseases: 676
      - Fabry Disease: 2995
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Fabry Disease: 2995
  - X-Linked Genetic Diseases: 42
    - Fabry Disease: 2995
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Fabry Disease: 2995
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Fabry Disease: 2995
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Fabry Disease: 2995

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