MCID: NKX001
MIFTS: 12

Nkx2-1-Related Disorders

Aliases & Classifications for Nkx2-1-Related Disorders

MalaCards integrated aliases for Nkx2-1-Related Disorders:

Name: Nkx2-1-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance No studies have evaluated the penetrance of nkx2-1 pathogenic variants though observational case reports of families suggest a variable penetrance.

Summaries for Nkx2-1-Related Disorders

MalaCards based summary : Nkx2-1-Related Disorders is related to choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction and chorea, benign hereditary. An important gene associated with Nkx2-1-Related Disorders is NKX2-1 (NK2 Homeobox 1). Affiliated tissues include thyroid, lung and brain.

GeneReviews: NBK185066

Related Diseases for Nkx2-1-Related Disorders

Diseases related to Nkx2-1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.6
2 chorea, benign hereditary 10.1
3 chorea, childhood-onset, with psychomotor retardation 10.1
4 congenital hypothyroidism 10.1
5 choreatic disease 10.1
6 hypothyroidism 10.1
7 idiopathic interstitial pneumonia 10.1
8 interstitial lung disease 10.1
9 pulmonary fibrosis 10.1
10 thyroid carcinoma 10.1

Graphical network of the top 20 diseases related to Nkx2-1-Related Disorders:



Diseases related to Nkx2-1-Related Disorders

Symptoms & Phenotypes for Nkx2-1-Related Disorders

Drugs & Therapeutics for Nkx2-1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Nkx2-1-Related Disorders

Genetic Tests for Nkx2-1-Related Disorders

Anatomical Context for Nkx2-1-Related Disorders

MalaCards organs/tissues related to Nkx2-1-Related Disorders:

41
Thyroid, Lung, Brain, Pituitary, Globus Pallidus

Publications for Nkx2-1-Related Disorders

Articles related to Nkx2-1-Related Disorders:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters. 4
27342578 2016
2
Phenotypic insights into ADCY5-associated disease. 4
27061943 2016
3
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 4
27066577 2016
4
Clinicopathological and Survival Analysis of Japanese Patients with Resected Non-Small-Cell Lung Cancer Harboring NKX2-1, SETDB1, MET, HER2, SOX2, FGFR1, or PIK3CA Gene Amplification. 4
26536195 2015
5
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. 4
25412988 2015
6
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation. 4
26103969 2015
7
NKX2-1-mediated p53 expression modulates lung adenocarcinoma progression via modulating IKKβ/NF-κB activation. 4
25881545 2015
8
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature. 4
24930029 2014
9
LKB1 loss by alteration of the NKX2-1/p53 pathway promotes tumor malignancy and predicts poor survival and relapse in lung adenocarcinomas. 4
23995788 2014
10
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. 4
24171694 2014
11
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. 4
24714694 2014
12
A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. 4
23787483 2013
13
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. 4
23911641 2013
14
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. 4
23430038 2013
15
Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate. 4
23361500 2013
16
Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation. 4
22825795 2013
17
Integrated cistromic and expression analysis of amplified NKX2-1 in lung adenocarcinoma identifies LMO3 as a functional transcriptional target. 4
23322301 2013
18
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. 4
23169673 2012
19
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. 4
22832740 2012
20
Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. 4
22166853 2012
21
Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. 4
22488412 2012
22
Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders. 4
22014129 2011
23
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. 4
20584796 2011
24
The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population. 4
21730105 2011
25
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect. 4
21867529 2011
26
Benign hereditary chorea: an update. 4
21292530 2011
27
Morphogenetics of early thyroid development. 4
21322126 2011
28
Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. 4
20203240 2010
29
Benign hereditary chorea: clinical and neuroimaging features in an Italian family. 4
20544814 2010
30
Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations. 4
20302910 2010
31
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". 4
20020530 2010
32
The progenitor zone of the ventral medial ganglionic eminence requires Nkx2-1 to generate most of the globus pallidus but few neocortical interneurons. 4
20181579 2010
33
Treatment of hyperkinetic movement disorders. 4
19679276 2009
34
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 4
19336474 2009
35
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. 4
19176457 2009
36
Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. 4
18957494 2009
37
Deletion of PAX9 and oligodontia: a third family and review of the literature. 4
18445003 2008
38
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 4
18788921 2008
39
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. 4
18661567 2008
40
Benign hereditary chorea revisited: a journey to understanding. 4
17702033 2007
41
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. 4
17405764 2007
42
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. 4
17044090 2006
43
Thyroid-specific enhancer-binding protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differentiated thyroid. 4
16601074 2006
44
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. 4
16507635 2006
45
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. 4
16220345 2005
46
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 4
15955952 2005
47
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. 4
15517377 2005
48
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 4
15289765 2004
49
Benign hereditary chorea: clinical, genetic, and pathological findings. 4
12891678 2003
50
Mutations in TITF-1 are associated with benign hereditary chorea. 4
11971878 2002

Variations for Nkx2-1-Related Disorders

Expression for Nkx2-1-Related Disorders

Search GEO for disease gene expression data for Nkx2-1-Related Disorders.

Pathways for Nkx2-1-Related Disorders

GO Terms for Nkx2-1-Related Disorders

Sources for Nkx2-1-Related Disorders

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73 UMLS via Orphanet
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