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lysosomal acid lipase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
Mondo Term and Equivalent IDs
MONDO:0010204:  lysosomal acid lipase deficiency
GARD:0012097: 
MESH:C531854: 
Orphanet:275761: 
SCTID:715923003: