primary hypoalphalipoproteinemia 2

Term ID

DOID:0080958

Synonyms

• Apolipoprotein A-I deficiency

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. https://pubmed.ncbi.nlm.nih.gov/29396262/

References

• GARD:758
• OMIM:618463
• ORDO:425

Ontology

Human Disease   ( DOID:0080958 )