Human genes for primary hypoalphalipoproteinemia 2
Primary hypoalphalipoproteinemia 2 [DOID:0080958]
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.
Synonyms: primary hypoalphalipoproteinemia 2, DOID:0080958, Apolipoprotein A-I deficiency, Apolipoprotein AI deficiency, Apolipoprotein A-I deficiencies