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
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
Search interest in NR2F2
Potential gene panels for NR2F2 gene
Congenital heart disease Deletion / Duplication panel Panel
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 panelCongenital heart disease Comprehensive panel Panel
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 panelCongenital heart disease NGS panel Panel
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 panelHeart Diseases - panels Panel
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 panelCongenital Heart Defects Panel Panel
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 panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
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 panelInvitae Congenital Heart Disease Panel Panel
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 panelNR2F2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR2F2 gene.
More info about this panelCongenital Structural Heart Disease Panel Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCEE PAFAH1B1 CYP21A2 ARHGEF18 CSMD2 ADCY5 TNFAIP3