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Concept information

Preferred term

Fabry Disease  

Type

  • Topical Descriptor

Entry terms

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

Note

  • do not confuse entry term ANDERSON-FABRY DISEASE with ANDERSEN'S DISEASE

Scope note

  • 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.

History note

  • 1999(1973)

In other languages

URI

http://www.yso.fi/onto/mesh/D000795

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