primary hypoalphalipoproteinemia 1

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.

Signs and symptoms

• Decreased circulating HDL-C concentration
• Myocardial infarction
• Premature coronary artery atherosclerosis
• Hypertriglyceridemia

Also known as: familial HDL deficiency; familial hypoalphalipoproteinemia