CITED2 gene related symptoms and diseases

All the information presented here about the CITED2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CITED2 gene

Symptoms // Phenotype % Cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CITED2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Rarely - Less than 30% cases

  • Growth delay
  • Endocarditis
  • Abnormal nasal morphology
  • Right ventricular failure
  • Interrupted aortic arch
  • Pulmonary artery atresia

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CITED2 gene

Here you will find a list of rare diseases related to the CITED2. 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

SOURCES: OMIM MESH ORPHANET

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE


Alternate names

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE Is also known as asd, ostium secundum type


More info about ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE

SOURCES: ORPHANET

ATRIAL SEPTAL DEFECT 8; ASD8


Most common symptoms of ATRIAL SEPTAL DEFECT 8; ASD8

  • Atrial septal defect


More info about ATRIAL SEPTAL DEFECT 8; ASD8

SOURCES: OMIM

SITUS INVERSUS TOTALIS


Alternate names

SITUS INVERSUS TOTALIS Is also known as complete situs inversus, complete situs inversus viscerum, situs inversus viscerum, siv, situs inversus

Description

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Most common symptoms of SITUS INVERSUS TOTALIS

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


More info about SITUS INVERSUS TOTALIS

SOURCES: ORPHANET OMIM

ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE


Alternate names

ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE Is also known as asd, sinus venosus type


More info about ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE

SOURCES: MESH ORPHANET

VENTRICULAR SEPTAL DEFECT 2; VSD2


Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {2,3:Wang et al., 2011, 2011}).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Most common symptoms of VENTRICULAR SEPTAL DEFECT 2; VSD2

  • Hypertension
  • Ventricular septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


More info about VENTRICULAR SEPTAL DEFECT 2; VSD2

SOURCES: OMIM


Potential gene panels for CITED2 gene

Heterotaxia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Heterotaxia that also includes the following genes: ZIC3 CRELD1 ACVR2B CITED2 NKX2-5 DNAH11 DNAH5 DNAI1 SHROOM3 LEFTY2

More info about this panel

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

Atrial septal defect type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CITED2 gene.

More info about this panel

Ventricular septal defect type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CITED2 gene.

More info about this panel

Congenital heart defects panel Panel

Germany.

By Centogene AG - the Rare Disease Company Congenital heart defects panel that also includes the following genes: TBX1 TBX20 CRELD1 ZFPM2 CFC1 CITED2 NKX2-5 FOXH1 GATA4 GATA6

More info about this panel

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

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

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

CITED2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CITED2 gene.

More info about this panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2

More info about this panel

CONGENITAL HEART DEFECTS Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS that also includes the following genes: ZIC3 CFC1 CITED2 MED13L FOXH1 GATA4 GDF1

More info about this panel


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