primary hypoalphalipoproteinemia 2

A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associate

A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.

Signs and symptoms

• Decreased circulating HDL-C concentration
• Premature coronary artery atherosclerosis
• Cataract
• Corneal arcus
• Tendon xanthomatosis

Also known as: Apolipoprotein A-I deficiency