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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.

Year introduced: 1999(1973)

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Tree Number(s): C10., C10.228.140.300.275.374, C14.907.253.329.374, C16.320.322.124, C16.320.565.189.435.825.200, C16.320.565.398.641.803.300, C16.320.565.595.554.825.200, C18.452.132.100.435.825.200, C18.452.584.563.641.803.300, C18.452.648.189.435.825.200, C18.452.648.398.641.803.300, C18.452.648.595.554.825.200

MeSH Unique ID: D000795

Entry Terms:

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

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