NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE Screening for TTF-1 deletions or mutations should always be considered in children with congenital hypothyroidism and an unexplained neonatal respiratory distress or neurodevelopmental deficits. 23997037 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease BEFREE In addition, identification of an NKX2-1 defect would be helpful in allaying the concerns about inadequate thyroxine supplementation as the cause of neurological defects observed in some children with congenital hypothyroidism. 24129101 2014
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. 20584796 2011
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstitial lung disease (ILD), hypotonia, and congenital hypothyroidism. 20020530 2010
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease LHGDN Seventy-nine and forty-nine Chinese children with CH were enrolled for molecular analysis of the TSHR gene and TTF-1 gene, respectively. 18379122 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE The mutation/variant of TSHR and TTF-1 genes is relatively rare in Chinese children with CH. 18379122 2008
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE Autosomal dominant transmission of mutations of NKX2-1 may cause congenital hypothyroidism, neonatal respiratory distress at term, and persistent neurologic findings such as ataxia, choreoathetosis, and dysarthria in families with affected subjects in multiple generations. 15289765 2004
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease GENOMICS_ENGLAND Therefore, the unfavorable outcome in patients with CH, especially those with choreoathetosis and pulmonary symptoms, can be explained by mutations in the NKX2-1 gene rather than by hypothyroidism. 11854319 2002
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease BEFREE Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness. 9588495 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE In the present study we analyzed the thyroid transcription factor-1 (TTF-1) gene in patients with congenital hypothyroidism due to thyroid dysgenesis: three patients with athyrosis, five with ectopy, and one with hypoplasia. 9881907 1998
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE Single strand conformation polymorphism (SSCP) was used to detect the presence of titf1 gene mutation in a group of 15 patients with congenital hypothyroidism. 9226206 1997
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 GeneticVariation disease BEFREE The absence of mutations in the TTF-1 gene in our samples indicates that the mutations in the TTF-1 gene are not a frequent cause of CH. 9226207 1997
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 AlteredExpression disease BEFREE These results are the first reported evidence of a congenital goiter with a thyroglobulin synthesis defect due to the low expression of the thyroid-specific transcription factor TTF-1. 7635972 1995
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.500 Biomarker disease HPO