TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Transient hypothyroxinaemia of prematurity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3827793
Disease: Transient hypothyroxinaemia of prematurity
Transient hypothyroxinaemia of prematurity 		0.010 GeneticVariation disease BEFREE Here, we describe three cases of loss-of-function mutations in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase (NOX) domain of dual oxidase 2 (DUOX2) occurring along with concurrent missense mutations in thyroid peroxidase (TPO), leading to transient congenital hypothyroidism (CH). 26565538 2016