Skip navigation

Disease Lecithin Acyltransferase Deficiency

Name Lecithin Acyltransferase Deficiency
Synonyms Acyltransferase Deficiencies, alpha-Lecithin-Cholesterol | Acyltransferase Deficiencies, alpha-Lecithin:Cholesterol | Acyltransferase Deficiency, alpha-Lecithin-Cholesterol | Acyltransferase Deficiency, alpha-Lecithin:Cholesterol | Acyltransferase Deficiency, Lecithin:Cholesterol | alpha LCAT Deficiency | alpha-LCAT Deficiency | alpha-Lecithin:Cholesterol Acyltransferase Deficiencies | alpha Lecithin Cholesterol Acyltransferase Deficiency | alpha Lecithin:Cholesterol Acyltransferase Deficiency | alpha-Lecithin-Cholesterol Acyltransferase Deficiency | alpha-Lecithin:Cholesterol Acyltransferase Deficiency | Corneal Dystrophy, Dyslipoproteinemic | Deficiencies, alpha-LCAT | Deficiencies, alpha-Lecithin:Cholesterol Acyltransferase | Deficiencies, LCATA | Deficiency, alpha-LCAT | Deficiency, alpha-Lecithin-Cholesterol Acyltransferase | Deficiency, alpha-Lecithin:Cholesterol Acyltransferase | Deficiency, LCAT | Deficiency, Lecithin Acyltransferase | Deficiency, Lecithin:Cholesterol Acyltransferase | Disease, Fish-Eye | Dyslipoproteinemic Corneal Dystrophy | FED | Fish Eye Disease | Fish-Eye Disease | LCATA Deficiencies | LCATA Deficiency | LCAT Deficiency | Lecithin Cholesterol Acyltransferase Deficiency | Lecithin:Cholesterol Acyltransferase Deficiency | Norum Disease
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D007863
OMIM® IDs 136120 | 245900
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Lecithin Acyltransferase Deficiency Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Dyslipidemias Has associated chemicals Has associated genes Has associated exposure references Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Lecithin Acyltransferase Deficiency Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hypolipoproteinemias Has associated chemicals Has associated genes Hypoalphalipoproteinemias Has associated chemicals Has associated genes Lecithin Acyltransferase Deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

None.