NAFLD

Alternative name(s) : Non alcoholic fatty liver disease, Fatty liver disease, nonalcoholic, susceptibility to

Gene_locus : human-ABHD5

Mutation : 2 mutations T65A_human-ABHD5 G14X_human-ABHD5

OMIM : 604780

Comment

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