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skos:definition |
MSH: 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.,CSP: disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria.,NCI: A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria.
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