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Angiokeratoma Corporis Diffusum Fabry

definition

Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.

synonyms

Angiokeratoma Corporis Diffusum Fabry, Fabry's Disease, Angiokeratoma Corporis Diffusum Universale

UMLS

Alpha - galactosidase A defic, Alpha - galactosidase A deficiency, alpha-Galactosidase-A deficiency, Anderson Fabry disease, Anderson-Fabry Disease, Angiokeratoma corporis diffusm, Angiokeratoma Corporis Diffusum, Angiokeratoma corporis diffusum universale, Angiokeratoma, corporis diffusum, Cardiovasorenal syndrome, Ceramide lactoside lipidosis, Ceramide trihexosidase defic, Ceramide trihexosidase deficiency, Disease, Anderson-Fabry, Disease, Fabry, Disease, Fabry's, Disease, Sweeley-Klionsky, Fabry Disease, Fabrys Disease, Fabry's Disease, GLA deficiency, Hereditary dystopic lipidosis, Lactosyl ceramidosis, Ruiter-Pompen syndrome, Sweeley-Klionsky disease, Syndrome, Ruiter-Pompen, Thesaurismosis hereditaria, Thesaurismosis lipoidica, Trihexosidase deficiency disease

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