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Human Disease

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
Ontology
Human Disease   ( DOID:0080958 )
Relationships
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Genes Involved
Zebrafish Models