H01806
H number H01806
Name Tenorio syndrome
Description Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways.
Category Developmental disorder