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): C10.228.140.163.100.435.825.200, 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:
- Anderson-Fabry Disease
- Anderson Fabry Disease
- alpha-Galactosidase A Deficiency Disease
- alpha Galactosidase A Deficiency Disease
- alpha-Galactosidase A Deficiency
- alpha Galactosidase A Deficiency
- Deficiency, alpha-Galactosidase A
- Angiokeratoma, Diffuse
- Diffuse Angiokeratoma
- Ceramide Trihexosidase Deficiency
- Deficiency, Ceramide Trihexosidase
- Hereditary Dystopic Lipidosis
- Lipidosis, Hereditary Dystopic
- Angiokeratoma Diffuse
- GLA Deficiency
- Deficiency, GLA
- Fabry's Disease
- Angiokeratoma Corporis Diffusum
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