Apolipoprotein A-I deficiency

Orpha code: 425OMIM code: 604091

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).

Disease data
Classification

Disease

Synonyms
ApoA-I deficiency
Hipoalfalipoproteinemia rodzinna
Niedobór ApoA-I
Rodzinny Niedobór apoA-I
Familial apoA-I deficiency
Familial hypoalphalipoproteinemia
ORPHA code
425
OMIM code
604091
ICD10 code
E78.6
ICD11 code
5C81.0

No additional description.

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