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

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

References (2)

Title : Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations -
Author(s) : Adant I , Declercq M , Bird M , Bauters M , Boeckx N , Devriendt K , Cassiman D , Witters P
Ref : Journal of Hepatology , 72 :1030 , 2020
PubMedID: 32107051
Gene_locus related to this paper: human-ABHD5

Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366
Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J
Ref : Journal of Hepatology , 71 :366 , 2019
PubMedID: 30954460
Gene_locus related to this paper: human-ABHD5