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Hyperlipidemia due to hepatic triglyceride lipase deficiency

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Description

Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

55

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Genes

External Links

  • OMIM

    614025

  • Orphanet

    140905

  • HPO
  • Medgen

    C3151466

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