Disease

Tricho-hepato-enteric Syndrome

About the Disease
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, skin and heart, and related phenotypes are abnormal facial shape and immunodeficiency

Common Targets
SKIC3

疾病靶点研报
Tricho-hepato-enteric Syndrome

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