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Disease Lecithin Cholesterol Acyltransferase Deficiency

Name Lecithin Cholesterol Acyltransferase Deficiency
Synonyms Acyltransferase Deficiency, Lecithin:Cholesterol | alpha LCAT Deficiency | alpha-LCAT Deficiency | alpha-Lecithin-Cholesterol Acyltransferase Deficiency | alpha-Lecithin:Cholesterol Acyltransferase Deficiency | Corneal Dystrophy, Dyslipoproteinemic | Deficiency, alpha-LCAT | Deficiency, LCAT | Dyslipoproteinemic Corneal Dystrophy | FED | Fish Eye Disease | Fish-Eye Disease | LCATA Deficiencies | LCATA Deficiency | LCAT Deficiency | Lecithin:Cholesterol Acyltransferase Deficiency | Norum Disease
Definition An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D007863
OMIM® IDs 136120 | 245900
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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 Cholesterol 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 Cholesterol 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 Cholesterol Acyltransferase Deficiency Has associated chemicals Has associated genes

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