Perlman Syndrome (PRLMNS)

Perlman Syndrome, also known as nephroblastomatosis, fetal ascites, macrosomia and wilms tumor, is related to wilms tumor 5 and wilms tumor 1, and has symptoms including abdominal pain An important gene associated with Perlman Syndrome is DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2), and among its related pathways/superpathways is Deadenylation-dependent mRNA decay. The drugs Vincristine and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include kidney and pancreatic islet, and related phenotypes are macrocephaly and intellectual disability