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Apolipoprotein A-I deficiency

Disease definition

Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).

ORPHA:425

  • Synonym(s):
    • ApoA-I deficiency
    • Familial apoA-I deficiency
    • Familial hypoalphalipoproteinemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E78.6
  • OMIM: 604091
  • UMLS: C0342898  C1704429
  • MeSH: D052456
  • GARD: 2872
  • MedDRA: 10065133

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