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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • 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)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1416865

http://linkedlifedata.com/resource/umls/id/C2936797

definition

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.

exactMatch

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019148

has exact synonym

lysosomal acid lipase deficiency

LAL deficiency

has related synonym

Wolman disease

cholesteryl ester storage disease

cholesterol ester hydrolase deficiency

lipa deficiency

lysosomal and lipase deficiency

id

MONDO:0010204