Version: 8.0.0
Date: Tue Jan 28 2025
primary hypoalphalipoproteinemia 1
DOID:0080957
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary hypoalphalipoproteinemia 1

Definition
A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.
Synonyms
  • familial HDL deficiency
  • familial hypoalphalipoproteinemia
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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