OnlineIMD

Familial hypercholesterolemia

  • Type
    Phenotype
  • Associated genes
    Gene list
    • LDLR LDL receptor deficiency
    • APOB Apolipoprotein B deficiency
    • PCSK9 PCSK9 deficiency
    • APOE APOE-related diseases
    • LPA LPA-related disease
  • Disease group(s)
    • 15.1    Disorders of low-density lipoprotein (LDL) metabolism