NKX2-1 gene related symptoms and diseases
All the information presented here about the NKX2-1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NKX2-1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Chorea | Common - Between 50% and 80% cases |
| Gait disturbance | Uncommon - Between 30% and 50% cases |
| Dystonia | Uncommon - Between 30% and 50% cases |
| Hypothyroidism | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NKX2-1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Muscular hypotonia
- Abnormality of movement
- Asthma
- Motor delay
- Dysarthria
- Ataxia
Rarely - Less than 30% cases
- Respiratory tract infection
- Abnormal cardiac septum morphology
And 65 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NKX2-1 gene
Here you will find a list of rare diseases related to the NKX2-1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BENIGN HEREDITARY CHOREA
Alternate names
BENIGN HEREDITARY CHOREA Is also known as benign familial chorea, bhc
Most common symptoms of BENIGN HEREDITARY CHOREA
- Gait disturbance
- Abnormality of movement
- Chorea
More info about BENIGN HEREDITARY CHOREA
CHOREA, BENIGN HEREDITARY; BHC
Alternate names
CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia, bch
Most common symptoms of CHOREA, BENIGN HEREDITARY; BHC
- Ataxia
- Cognitive impairment
- Motor delay
- Dysarthria
- Gait disturbance
More info about CHOREA, BENIGN HEREDITARY; BHC
SOURCES: OMIM
DIFFERENTIATED THYROID CARCINOMA
Alternate names
DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc
Description
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Most common symptoms of DIFFERENTIATED THYROID CARCINOMA
- Neoplasm
- Pain
- Carcinoma
- Hoarse voice
- Goiter
More info about DIFFERENTIATED THYROID CARCINOMA
BRAIN-LUNG-THYROID SYNDROME
Alternate names
BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome, brain-lung-thyroid syndrome
Description
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).
Most common symptoms of BRAIN-LUNG-THYROID SYNDROME
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Muscular hypotonia
- Motor delay
More info about BRAIN-LUNG-THYROID SYNDROME
ATHYREOSIS
Description
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Most common symptoms of ATHYREOSIS
- Global developmental delay
- Short stature
- Growth delay
- Muscle weakness
- Muscular hypotonia
More info about ATHYREOSIS
SOURCES: ORPHANET
Search interest in NKX2-1
Potential gene panels for NKX2-1 gene
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3
More info about this panel United States.
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel that also includes the following genes: SFTPB SFTPC SLC7A7 NKX2-1 CSF2RA CSF2RB ABCA3 FOXF1
More info about this panel United States.
Diffuse Lung Disease NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Diffuse Lung Disease NGS Panel that also includes the following genes: SFTPA2 SFTPB SFTPC SLC7A7 TERC TERT TINF2 NKX2-1 HPS4 CSF2RA
More info about this panel United States.
Pulmonary Alveolar Proteinosis NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Pulmonary Alveolar Proteinosis NGS Panel that also includes the following genes: SFTPB SFTPC SLC7A7 NKX2-1 CSF2RA CSF2RB ABCA3 FOXF1
More info about this panel United States.
Idiopathic Pulmonary Fibrosis NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Idiopathic Pulmonary Fibrosis NGS Panel that also includes the following genes: SFTPA2 SFTPC TERC TERT TINF2 NKX2-1 HPS4 DKC1 ABCA3 HPS1
More info about this panel United States.
Neonatal Respiratory Distress NGS Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Neonatal Respiratory Distress NGS Panel that also includes the following genes: SFTPB SFTPC NKX2-1 ABCA3 FOXF1
More info about this panel United States.
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Benign Hereditary Chorea Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Childhood Interstitial Lung Disease Panel Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Childhood Interstitial Lung Disease Panel that also includes the following genes: SFTPC NKX2-1 ABCA3
More info about this panel United States.
NKX2-1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Congenital Hypothyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Deletion/Duplication Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
Congenital Hypothyroidism Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Sequencing Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Basic Fibrosis Panel (12 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Basic Fibrosis Panel (12 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 CSF2RA ELMOD2
More info about this panel United States.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 HPS3 HPS4
More info about this panel United States.
Benign hereditary chorea Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Choreoathetosis, hypothyroidism and neonatal respiratory distress Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
NKX2-1 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the NKX2-1 gene.
More info about this panel Netherlands.
Benign Hereditary Chorea Panel
Italy.
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the NKX2-1 gene.
More info about this panel Italy.
NKX2-1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
Neonatal Respiratory Distress Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Del/Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq + Del/ Dup Panel that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Neonatal Respiratory Distress Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Neonatal Respiratory Distress Seq Analysis that also includes the following genes: SFTPB SLC7A7 TERC TERT NKX2-1 COPA CSF2RA CSF2RB DKC1 ABCA3
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Benign hereditary chorea (deletion/duplication analysis of NKX2-1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Portugal.
Choreoathetosis and congenital hypothyroidism (sequence analysis of NKX2-1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Portugal.
Benign hereditary chorea (sequence analysis of NKX2-1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Portugal.
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2
More info about this panel United States.
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 CSF2RB ELMOD2 ABCA3
More info about this panel United States.
Interstitial Lung Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Chorea, hereditary benign Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NKX2-1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Choreatic Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Single gene testing NKX2-1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the NKX2-1 gene.
More info about this panel Germany.
Hypothyroidism and Thyroid Hormone Resistance Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD
More info about this panel Estonia.
Chorea, Hereditary benign: TITF1 (NKX2-1) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
CONGENITAL HYPOTHYROIDISM Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD
More info about this panel Spain.
NKX2-1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel United States.
Hypothyroidism and Resistance to Thyroid Hormone Panel Panel
Finland.
By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5
More info about this panel Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Interstitial Lung Disease Panel Panel
Finland.
By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT
More info about this panel Finland.
Neonatal Respiratory Distress - Surfactant Dysfunction Panel Panel
Finland.
By Blueprint Genetics Neonatal Respiratory Distress - Surfactant Dysfunction Panel that also includes the following genes: SFTPB SFTPC NKX2-1 ABCA3 FOXF1
More info about this panel Finland.
Benign familial chorea Panel
Spain.
By Bioarray
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
CONGENITAL HYPOTHYROIDISM – NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM – NGS PANEL that also includes the following genes: SLC5A5 TG THRA NKX2-1 TPO TSHB DUOX2 IYD NKX2-5 DUOXA2
More info about this panel Spain.
CHOREA, HEREDITARY BENIGN Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS Panel
Spain.
By Laboratorio de Genetica Clinica SL THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS that also includes the following genes: NKX2-1 NKX2-5 FOXE1 PAX8
More info about this panel Spain.
Benign Hereditary Chorea , Sequencing TITF1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
Congenital Hypothyroidism , Sequencing TITF1 (NKX2-1) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
Benign Hereditary Chorea , Deletions-Duplications (MLPA) TITF1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NKX2-1 gene.
More info about this panel Spain.
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB IYD NKX2-5
More info about this panel Spain.
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SFTPB SFTPC NKX2-1 CSF2RA CSF2RB ABCA3
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
NKX2-1 Related Disorders: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the NKX2-1 gene.
More info about this panel Canada.
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