ONKI3 | Medical Subject Headings

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Lecithin Acyltransferase Deficiency

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency 1 coordinate concept ∟ Tangier Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Dyslipidemias ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency 1 coordinate concept ∟ Tangier Disease Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency 1 coordinate concept ∟ Tangier Disease X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Lipid Metabolism Disorders ∟ Dyslipidemias ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lipid Metabolism, Inborn Errors ∟ Hypolipoproteinemias ∟ Hypoalphalipoproteinemias ∟ Lecithin Acyltransferase Deficiency Hypoalphalipoproteinemias > Hypolipoproteinemias > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hypoalphalipoproteinemias > Hypolipoproteinemias > Dyslipidemias > Lipid Metabolism Disorders > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Hypoalphalipoproteinemias > Hypolipoproteinemias > Lipid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Acyltransferases (1966-1977) \| Lecithin Acyltransferase/DF (1975-1977) \| Lipid Metabolism, Inborn Errors (1966-1977) \| Lipoproteins (1966-1977)X
historyNote*:	91(78); was see under HYPOLIPOPROTEINEMIA 1980-90; was see under HYPOLIPOPROTEINEMIAS 1978-79 X
publicMeSHNote*:	91; was see under HYPOLIPOPROTEINEMIA 1980-90; was see under HYPOLIPOPROTEINEMIAS 1978-79 X
Scope note:	An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA. X
activeMeSHYear*:	2007X
dateCreated*:	1977-04-29X
dateEstablished*:	1991-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	VDKX
Type:	Concept X
Coordinate terms:	Tangier Disease X
URI:	X
Labels and equivalent concepts:	Lesitiiniasyylitransferaasin puutos (fi) LCAT-puute (fi, replaced) LCAT-puutos (fi, replaced) Lesitiiniasyylitransferaasin puute (fi, replaced) Lecitinacyltransferasbrist (sv) Lecithin:Cholesterol Acyltransferase Deficiency (en, replaced) LCAT Deficiency (en, replaced) alpha-Lecithin-Cholesterol Acyltransferase Deficiency (en, replaced) Deficiency, Lecithin Acyltransferase (en, replaced) Dyslipoproteinemic Corneal Dystrophy (en, replaced) alpha-LCAT Deficiency (en, replaced) X
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