NKX2-6 gene related symptoms and diseases
All the information presented here about the NKX2-6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NKX2-6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Tetralogy of Fallot | Uncommon - Between 30% and 50% cases |
| Truncus arteriosus | Uncommon - Between 30% and 50% cases |
| Pulmonary artery atresia | Uncommon - Between 30% and 50% cases |
| Abnormal heart morphology | Uncommon - Between 30% and 50% cases |
| Arrhythmia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NKX2-6 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormal cardiac septum morphology
- Abnormality of cardiovascular system morphology
- Double outlet right ventricle
- Respiratory distress
- Ventricular septal defect
Rarely - Less than 30% cases
- Hypocalcemia
- Broad hallux
- Transposition of the great arteries
And 82 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NKX2-6 gene
Here you will find a list of rare diseases related to the NKX2-6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TETRALOGY OF FALLOT
Description
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
TRUNCUS ARTERIOSUS
Alternate names
TRUNCUS ARTERIOSUS Is also known as common aorticopulmonary trunk, common arterial trunk, tac
Description
Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.
More info about TRUNCUS ARTERIOSUS
SOURCES: ORPHANET
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Cleft palate
- Depressed nasal bridge
More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM
SOURCES: OMIM
FAMILIAL ATRIAL FIBRILLATION
Alternate names
FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant
Description
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
Most common symptoms of FAMILIAL ATRIAL FIBRILLATION
- Pain
- Respiratory distress
- Arrhythmia
- Stroke
- Dilated cardiomyopathy
More info about FAMILIAL ATRIAL FIBRILLATION
Search interest in NKX2-6
Potential gene panels for NKX2-6 gene
Congenital heart disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Congenital Heart Defects Panel Panel
Germany.
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panel Germany.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Atrial fibrillation Panel Panel
Spain.
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
NKX2-6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NKX2-6 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
TRUNCUS ARTERIOSUS COMMUNIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NKX2-6 gene.
More info about this panel Spain.
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX1 NKX2-5 NKX2-6 GATA6 GDF1
More info about this panel Spain.
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.
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