Trichohepatoenteric Syndrome 1 (THES1)

Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to trichohepatoenteric syndrome 2 and congenital diarrhea, and has symptoms including infantile diarrhea and thin, sparse hair. An important gene associated with Trichohepatoenteric Syndrome 1 is SKIC3 (SKI3 Subunit Of Superkiller Complex), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. Affiliated tissues include liver and skin, and related phenotypes are abnormal facial shape and immunodeficiency