NR2F2 gene related symptoms and diseases

All the information presented here about the NR2F2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NR2F2 gene

Symptoms // Phenotype % Cases
Aortic valve stenosis Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Persistent left superior vena cava Rare - less than 30% cases
Hypoplastic left heart Rare - less than 30% cases
Coarctation of aorta Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NR2F2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Tetralogy of Fallot
  • Tetralogy of Fallot with pulmonary atresia
  • Atrial septal dilatation
  • Second degree atrioventricular block
  • Subvalvular aortic stenosis
  • Atrial septal defect
  • Secundum atrial septal defect
  • Bicuspid aortic valve

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NR2F2 gene

Here you will find a list of rare diseases related to the NR2F2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PARTIAL ATRIOVENTRICULAR CANAL

Alternate names

PARTIAL ATRIOVENTRICULAR CANAL Is also known as pavc, asd, partial atrioventricular canal defect

Description

Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.

Most common symptoms of PARTIAL ATRIOVENTRICULAR CANAL

  • Ventricular septal defect
  • Atrial septal defect
  • Dilatation
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


More info about PARTIAL ATRIOVENTRICULAR CANAL

SOURCES: ORPHANET OMIM

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

Most common symptoms of CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

  • Ventricular septal defect
  • Tetralogy of Fallot
  • Coarctation of aorta
  • Aortic valve stenosis
  • Hypoplastic left heart


More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

SOURCES: OMIM

COMPLETE ATRIOVENTRICULAR CANAL-LEFT HEART OBSTRUCTION SYNDROME

Alternate names

COMPLETE ATRIOVENTRICULAR CANAL-LEFT HEART OBSTRUCTION SYNDROME Is also known as cavc-left heart obstruction syndrome


More info about COMPLETE ATRIOVENTRICULAR CANAL-LEFT HEART OBSTRUCTION SYNDROME

SOURCES: ORPHANET

COMPLETE ATRIOVENTRICULAR CANAL-VENTRICLE HYPOPLASIA SYNDROME

Alternate names

COMPLETE ATRIOVENTRICULAR CANAL-VENTRICLE HYPOPLASIA SYNDROME Is also known as cavc-ventricle hypoplasia syndrome


More info about COMPLETE ATRIOVENTRICULAR CANAL-VENTRICLE HYPOPLASIA SYNDROME

SOURCES: ORPHANET

COMPLETE ATRIOVENTRICULAR CANAL-TETRALOGY OF FALLOT SYNDROME

Alternate names

COMPLETE ATRIOVENTRICULAR CANAL-TETRALOGY OF FALLOT SYNDROME Is also known as cavc-fallot tetralogy syndrome


More info about COMPLETE ATRIOVENTRICULAR CANAL-TETRALOGY OF FALLOT SYNDROME

SOURCES: ORPHANET


Potential gene panels for NR2F2 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.

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.

NR2F2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NR2F2 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.

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