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LCAT deficiency

Disease definition

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


Classification level: Disorder
  • Synonym(s):
    • Lecithin-cholesterol acyltransferase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E78.6
  • OMIM: 136120  245900
  • UMLS: C0023195
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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