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Disease Report for: Hypobetalipoproteinemia Familial 2

Alternative name(s)|FHBL2
Familial combined hypocholesterolemia
Mutation|1 mutation:
OMIM: |605019, 151670

A novel rare variant in the hepatic lipase phospholipase LIPC gene in a family who presents with dominant familial combined hypocholesterolemia. This gain-of-function variant (an increased lipolytic activity on phospholipids) makes LIPC the second identified gene, after ANGPTL3, causally involved in familial combined hypocholesterolemia. Most mutations in LIPC gene gives another syndrome: Familial human hepatic lipase deficiency, a rare recessive disorder. The disease then is characterised by premature atherosclerosis and abnormal circulating lipoproteins.

    Title: Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia
    Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud A, Thedrez A, Arnaud L, Pronk A and Cariou B <12 more author(s)>
    Ref: Circulation, :, 2022 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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