high density lipoprotein (HDL) deficiency type 2; familial hypoalphalipoproteinemia type 2 (HDLD2)

Pathology

• dominished cellular cholesterol efflux

Genetics

• autosomal dominant
• associated with defects in ABCA1
• associated with defects in APOA1

Clinical manifestations

• predilection toward premature coronary artery disease

Laboratory

• moderately low HDL cholesterol

More general terms

• familial HDL deficiency (familial hypoalphalipoproteinemia)

Database

• OMIM: https://mirror.omim.org/entry/205400
• OMIM: https://mirror.omim.org/entry/604091