Familial Thyroid Dyshormonogenesis

Familial Thyroid Dyshormonogenesis, also known as thyroid dyshormonogenesis, is related to pendred syndrome and thyroid dyshormonogenesis 2a. An important gene associated with Familial Thyroid Dyshormonogenesis is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Thyroid hormones production and peripheral downstream signaling effects. Affiliated tissues include thyroid and cerebellum, and related phenotypes are decreased circulating t4 concentration and elevated circulating thyroid-stimulating hormone concentration