Version: 8.0.0
Date: Tue Jan 28 2025
primary hypoalphalipoproteinemia 2
DOID:0080958
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary hypoalphalipoproteinemia 2

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.
Synonyms
  • Apolipoprotein A-I deficiency
Cross References
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