Disease_Mapped_To_Gene Sphingolipidosis Pediatric Nephrology Terminology Cellosaurus Disease Terminology GLA Gene Fabry Disease Cellosaurus CL412926 Disease or Syndrome Fabry's Disease 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. Fabry Disease NICHD Alpha-Galactosidase A Deficiency Fabry Disease 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. C84701 X-Linked Inherited Disorder NICHD Terminology Neonatal Research Network Terminology