Alternative name(s) : Non alcoholic fatty liver disease, Fatty liver disease, nonalcoholic, susceptibility to
Gene_locus : 1
Mutation : 2
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
| 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 |
| Abstract : |
| PubMedSearch : Youssefian_2019_J.Hepatol_71_366 |
| PubMedID: 30954460 |
| Gene_locus related to this paper: human-ABHD5 |