GTR Home > Conditions/Phenotypes > Familial hypercholesterolemia


Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL). [from OMIM]

Associated genes

  • Also known as: ABC-1, ABC1, CERP, HDLDT1, TGD, ABCA1
    Summary: ATP-binding cassette, sub-family A (ABC1), member 1

  • Also known as: Apo-AII, ApoA-II, apoAII, APOA2
    Summary: apolipoprotein A-II

  • Also known as: CEH, SEH, EPHX2
    Summary: epoxide hydrolase 2, cytoplasmic

  • Also known as: GHBP, GHR
    Summary: growth hormone receptor

  • Also known as: PRO1851, GP120, H4P, IHRP, ITI-HC4, ITIHL1, PK-120, PK120, ITIH4
    Summary: inter-alpha-trypsin inhibitor heavy chain family, member 4

  • Also known as: FH, FHC, LDLCQ2, LDLR
    Summary: low density lipoprotein receptor

  • Also known as: C7orf16, GSBS, PPP1R17
    Summary: protein phosphatase 1, regulatory subunit 17

Clinical features

  • Hypertriglyceridemia
  • Hyperbetalipoproteinemia
  • Hypercholesterolemia
  • Abnormality of the skin
  • Corneal arcus
  • Xanthelasma
  • Atheromatosis
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