primary hypoalphalipoproteinemia 2 (DOID:0080958)
Alliance: disease page
Synonyms: Apolipoprotein A-I deficiency
Alt IDs: OMIM:618463, ORDO:425
Definition: 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.