Condition: Chronic intestinal pseudo-obstruction


rs587777383 in ACTG2 gene and Chronic intestinal pseudo-obstruction PMID 26813947 2016 Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).