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A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. [ NCI ]

Synonyms: Fabry Disease Alpha-Galactosidase A Deficiency Angiokeratoma Corporis Diffusum Fabry's Disease

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Term information

Subsets

NCIT_C90259, NCIT_C99147, NCIT_C123272, NCIT_C165258

ALT DEFINITION

An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.

Contributing Source

Cellosaurus

NICHD

NCI META CUI

CL412926

NICHD Hierarchy Term

Fabry Disease

Preferred Name

Fabry Disease

Semantic Type

Disease or Syndrome

code

C84701

Term relations