NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE The Brain-Lung-Thyroid syndrome (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (hypodontia) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA. 29477862 2018
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE In this case report, an additional patient with brain-lung-thyroid syndrome is reported, carrying a novel heterozygous mutation, c.533G>C (p.R178P), in the homeobox of NKX2-1. 29882472 2018
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease BEFREE Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. 29621620 2018
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE We identified a mutation [p.(Val75Glyfs*334)] in the amino-terminal domain of the NKX2-1 gene, which was functionally compared with a previously identified mutation [p.(Ala276Argfs*75)] in the carboxy-terminal domain in other patients with BLTS but without signs of respiratory distress. 29294041 2018
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 28286255 2017
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE Two of the four patients presenting with the triad of BLTS had NKX2-1 mutations, and one of these NKX2-1 [c.890_896del (p.Ala327Glyfs*52)] is a novel variant. 24129101 2014
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease UNIPROT Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. 24714694 2014
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GermlineCausalMutation disease ORPHANET Two of the four patients presenting with the triad of BLTS had NKX2-1 mutations, and one of these NKX2-1 [c.890_896del (p.Ala327Glyfs*52)] is a novel variant. 24129101 2014
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease GENOMICS_ENGLAND Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. 23430038 2013
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease BEFREE In conclusion, ILD in patients with NKX2-1 mutations was associated with altered surfactant protein metabolism, and both gain and loss of function of the mutated NKX2-1 genes on surfactant protein promoters were associated with ILD in "Brain-Lung-Thyroid syndrome". 20020530 2010
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 CausalMutation disease CLINVAR A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 18788921 2008
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease UNIPROT A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 15955952 2005
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease GENOMICS_ENGLAND Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease UNIPROT Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease GENOMICS_ENGLAND Clinical and genetic heterogeneity in benign hereditary chorea. 12196653 2002
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease UNIPROT Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. 11854318 2002
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease GENOMICS_ENGLAND Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease UNIPROT Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 GeneticVariation disease CLINVAR
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		0.770 Biomarker disease CTD_human