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GENATLAS PHENOTYPE
last update : 01-04-2020
Symbol HTDI2
Location 15q21.1
Name congenital hypothyroidism with defects in iodide organification 2
Other name(s) Thyroid dyshormonogenesis 5
Corresponding gene DUOXA2
Other symbol(s) TDH5
Main clinical features
  • idiopathic congenital hypothyroidism with an iodide-organification defect, dyshormonogenic goiter
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)
  • mutation have impaired trafficking in cells reconstituted with DUOX2 maturation factor (Grasberger 2007)
  • novel DUOXA2 mutation (I26M) causing CH with goiter, which affected H2O2 generation but did not alter the protein expression levels (PMID: 25675383))