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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM MESH ORPHANET

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Single gene testing NKX2-1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NKX2-1 gene.

More info about this panel

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

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

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

NKX2-1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NKX2-1 gene.

More info about this panel

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

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

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

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

Benign familial chorea Panel

Spain.

By Bioarray

This panel specifically test the NKX2-1 gene.

More info about this panel

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

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

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

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

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

CHOREA, HEREDITARY BENIGN Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NKX2-1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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


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