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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 18/07/2006
Symbol LCAT
Location 16q22.1
Name lecithin, cholesterol acyltransferase deficiency
Other name(s)
  • Norum disease . hypercholesterolemia, unesterified . familial LCAT deficiency
  • Corresponding gene LCAT
    Other symbol(s) FLD
    Main clinical features
  • characterized by corneal opacities, target cell hemolytic anemia, proteinuria with renal failure, Norum disease including susceptibility to familial combined hyperlipemia and premature coronary artery disease
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name lecithin-cholesterol acyltransferase (LCAT)