Orphanet: Apolipoprotein A I deficiency

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Apolipoprotein A-I deficiency

Disease definition

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).


Classification level: Disorder
  • 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  618463
  • UMLS: C0342898  C1704429
  • MeSH: D052456
  • GARD: 2872  758
  • MedDRA: 10065133

Detailed information


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