Related MeSH Hierarchy (4)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Lecithin Cholesterol Acyltransferase Deficiency
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Dyslipidemias » Hypolipoproteinemias » Hypoalphalipoproteinemias » Lecithin Cholesterol Acyltransferase Deficiency
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Lecithin Cholesterol Acyltransferase Deficiency
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Hypolipoproteinemias » Hypoalphalipoproteinemias » Lecithin Cholesterol Acyltransferase Deficiency
Description
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. MeSH
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Other Experimental Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Other Experimental Indications (1)
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