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Familial LCAT deficiency

Disease definition

Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.

ORPHA:79293

  • Synonym(s):
    • Complete LCAT deficiency
    • FLD
    • Norum disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: All ages
  • ICD-10: E78.6
  • OMIM: 245900
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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