ACVR2B gene related symptoms and diseases
All the information presented here about the ACVR2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACVR2B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ventricular septal defect | Uncommon - Between 30% and 50% cases |
| Pulmonic stenosis | Uncommon - Between 30% and 50% cases |
| Dextrocardia | Uncommon - Between 30% and 50% cases |
| Atrioventricular canal defect | Uncommon - Between 30% and 50% cases |
| Polysplenia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACVR2B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Anomalous pulmonary venous return
- Heterotaxy
- Total anomalous pulmonary venous return
- Right aortic arch
- Congenitally corrected transposition of the great arteries
- Interrupted inferior vena cava with azygous continuation
- Ectopia of the spleen
Rare diseases associated to ACVR2B gene
Here you will find a list of rare diseases related to the ACVR2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4
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 the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).
Most common symptoms of HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4
- Ventricular septal defect
- Pulmonic stenosis
- Dextrocardia
- Atrioventricular canal defect
- Polysplenia
More info about HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4
SOURCES: OMIM
SITUS AMBIGUUS
Alternate names
SITUS AMBIGUUS Is also known as situs ambiguous, partial situs inversus, incomplete situs inversus
More info about SITUS AMBIGUUS
SOURCES: ORPHANET
Search interest in ACVR2B
Potential gene panels for ACVR2B 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 United States.
Heterotaxy V2 Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Heterotaxy V2 Panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 BCL9L NKX2-5 CFAP53 DNAH11 DNAH5 NAT10
More info about this panel United States.
ACVR2B. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACVR2B gene.
More info about this panel Spain.
Heterotaxy visceral 4, autosomal (sequence analysis of ACVR2B gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVR2B gene.
More info about this panel Portugal.
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10
More info about this panel United States.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
Heterotaxy, Visceral 4 (HTX4) via ACVR2B Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACVR2B gene.
More info about this panel United States.
Congenital heart defects panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2
More info about this panel Netherlands.
Heterotaxy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Heterotaxy panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 NKX2-5 LEFTY2 FOXH1 GDF1 GJA1 NODAL
More info about this panel Germany.
Heterotaxy, visceral type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACVR2B gene.
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.
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.
ACVR2B-Related Visceral Heterotaxy Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the ACVR2B gene.
More info about this panel Netherlands.
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.
Ciliopathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel United States.
Heterotaxy and Situs Inversus NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Heterotaxy and Situs Inversus NGS Panel that also includes the following genes: ZIC3 NME8 ACVR2B INVS CFC1 DNAI2 DNAAF2 DNAL1 NKX2-5 CCDC39
More info about this panel United States.
ACVR2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACVR2B 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.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Heterotaxy and Situs Inversus Panel Panel
Finland.
By Blueprint Genetics Heterotaxy and Situs Inversus Panel that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 LRRC6 ACVR2B INVS PKD1L1 DNAI2 ZMYND10
More info about this panel Finland.
Heterotaxia��� autosomal, visceral, type 4 Panel
Spain.
By Bioarray
This panel specifically test the ACVR2B gene.
More info about this panel Spain.
HETEROTAXY & SITUS INVERSUS Panel
Spain.
By Laboratorio de Genetica Clinica SL HETEROTAXY & SITUS INVERSUS that also includes the following genes: ZIC3 MMP21 CRELD1 ACVR2B PKD1L1 CFC1 NKX2-5 CFAP53 LEFTY2 FOXH1
More info about this panel Spain.
Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Heterotaxy Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ZIC3 ACVR2B PKD1L1 CFC1 NODAL
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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