autosomal dominant hypercholesterolemia 3

Genetics

• autosomal dominant
• mutation in proprotein convertase PC9 gene (PCSK9)

Laboratory

• lipid panel: very high LDL cholesterol

More general terms

• familial hyperliproteinemia, other
• hypercholesterolemia

Additional terms

• proprotein convertase subtilisin/kexin type 9; neural apoptosis-regulated convertase 1; NARC-1; Proprotein convertase 9; PC9; subtilisin/kexin-like protease PC9 (PCSK9 NARC1 PSEC0052)

Database

• OMIM: https://mirror.omim.org/entry/603776