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: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 25
        Hypoalphalipoproteinemias: 207
        Lecithin Cholesterol Acyltransferase Deficiency: 413
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 25
        Hypoalphalipoproteinemias: 207
        Lecithin Cholesterol Acyltransferase Deficiency: 413
  - Lipid Metabolism Disorders: 987
    - Dyslipidemias: 18780
      - Hypolipoproteinemias: 25
        Hypoalphalipoproteinemias: 207
        Lecithin Cholesterol Acyltransferase Deficiency: 413
    - Inborn Errors Lipid Metabolism
      - Hypolipoproteinemias: 25
        Hypoalphalipoproteinemias: 207
        Lecithin Cholesterol Acyltransferase Deficiency: 413

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