primary hypoalphalipoproteinemia 1

Term ID

DOID:0080957

Synonyms

• familial HDL deficiency

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. https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/

References

• GARD:2872
• OMIM:604091
• ORDO:425

Ontology

Human Disease   ( DOID:0080957 )