Lecithin Cholesterol Acyltransferase Deficiency

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.

Also Known As:

Lecithin:Cholesterol Acyltransferase Deficiency; Fish-Eye Disease; Dyslipoproteinemic Corneal Dystrophy; LCAT Deficiency; LCATA Deficiency; Norum Disease; alpha-LCAT Deficiency; alpha-Lecithin-Cholesterol Acyltransferase Deficiency; alpha-Lecithin:Cholesterol Acyltransferase Deficiency; Acyltransferase Deficiency, Lecithin:Cholesterol; Corneal Dystrophy, Dyslipoproteinemic; Deficiency, LCAT; Deficiency, alpha-LCAT; Fish Eye Disease; LCATA Deficiencies; alpha LCAT Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Lecithin Cholesterol Acyltransferase Deficiency: 410
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Lecithin Cholesterol Acyltransferase Deficiency: 410
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Lecithin Cholesterol Acyltransferase Deficiency: 410
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 24
        Hypoalphalipoproteinemias: 206
        Lecithin Cholesterol Acyltransferase Deficiency: 410

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Disease

Drug/Important Bio-Agent (IBA)