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. [ Orphanet:275761 ]
Term information
- GARD:0012097 (Orphanet-shared)
- ICD10:E75.5 (Orphanet:275761)
- DOID:0080217 (MONDO:equivalentTo)
- OMIM:278000 (Orphanet:275761)
- SCTID:715923003 (MONDO:equivalentTo)
- MESH:C531854 (MONDO:equivalentTo)
- Orphanet:275761 (OMIM:278000)
ordo_disease
http://linkedlifedata.com/resource/umls/id/C1416865
http://linkedlifedata.com/resource/umls/id/C2936797
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.
http://identifiers.org/snomedct/715923003
http://identifiers.org/mesh/C531854
http://purl.obolibrary.org/obo/DOID_0080217
http://identifiers.org/omim/278000
http://www.orpha.net/ORDO/Orphanet_275761
Wolman disease
cholesteryl ester storage disease
cholesterol ester hydrolase deficiency
lipa deficiency
lysosomal and lipase deficiency