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Disease Report for: NAFLD

Alternative name(s)|Non alcoholic fatty liver disease
Fatty liver disease, nonalcoholic, susceptibility to
Mutation|2 mutations: G14X_human-ABHD5, T65A_human-ABHD5
OMIM: |604780

Non-alcoholic fatty liver disease (NAFLD) is associated with the metabolic syndrome, and progress from simple steatosis to non-alcoholic steatohepatitis (NASH), cirrhosis, hepatic failure, and hepatocellular carcinoma. NAFLD is a multifactorial disease and up to 50% of its relative risk has been attributed to genetic susceptibility. Youssefian et al. found a mutation p.Gly14Ter c.40G>T in exon 1. Heterozygous nonsense mutation in 9 affected patients with Non-alcoholic fatty liver disease (NAFLD) in a large non-consanguineous family of Italian ancestry. Adant et al. found a mutation p.Thr65Ala c.193A>G homozygous missense mutation found in two sisters. Non-alcoholic fatty liver disease (NAFLD) pediatric female patient. The patients had NAFLD without the full Chanarin-Dorfman syndrome (CDS) phenotype

    Title: Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
    Adant I, Declercq M, Bird M, Bauters M, Boeckx N, Devriendt K, Cassiman D, Witters P
    Ref: Journal of Hepatology, 72:1030, 2020 : PubMed


    Title: Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
    Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA and Uitto J <2 more author(s)>
    Ref: Journal of Hepatology, 71:366, 2019 : 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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