GDF1 gene related symptoms and diseases
All the information presented here about the GDF1 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 GDF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ventricular septal defect | Very Common - Between 80% and 100% cases |
| Pulmonary artery atresia | Very Common - Between 80% and 100% cases |
| Abnormality of cardiovascular system morphology | Very Common - Between 80% and 100% cases |
| Pulmonic stenosis | Very Common - Between 80% and 100% cases |
| Abnormal heart morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GDF1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal cardiac septum morphology
- Single ventricle
- Total anomalous pulmonary venous return
- Heterotaxy
- Anomalous pulmonary venous return
- Complete atrioventricular canal defect
- Atrial septal defect
- Double outlet right ventricle
And 71 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GDF1 gene
Here you will find a list of rare diseases related to the GDF1. 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
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6
Alternate names
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 Is also known as transposition of the great arteries, dextro-looped 3, formerly, dtga3, formerly
Description
Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}.
Most common symptoms of CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6
- Ventricular septal defect
- Atrial septal defect
- Abnormality of cardiovascular system morphology
- Hernia
- Abnormal heart morphology
More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6
SOURCES: OMIM
IVEMARK SYNDROME
Alternate names
IVEMARK SYNDROME Is also known as ivemark syndrome, asplenia with cardiovascular anomalies, right isomerism
Description
Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).
Most common symptoms of IVEMARK SYNDROME
- Growth delay
- Hypertelorism
- Low-set ears
- Flexion contracture
- Intrauterine growth retardation
More info about IVEMARK SYNDROME
Search interest in GDF1
Potential gene panels for GDF1 gene
Ciliopathies Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panel United States.
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.
Transposition of great arteries, dextro-looped 3 (sequence analysis of GDF1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GDF1 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 and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GDF1 gene.
More info about this panel United States.
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
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.
Transposition of great arteries, dextro-looped 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GDF1 gene.
More info about this panel Germany.
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 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.
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.
GDF1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GDF1 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.
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.
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 Spain.
IVEMARK SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GDF1 gene.
More info about this panel Spain.
DOUBLE OUTLET RIGHT VENTRICLE Panel
Spain.
By Laboratorio de Genetica Clinica SL DOUBLE OUTLET RIGHT VENTRICLE that also includes the following genes: ZIC3 CFC1 GDF1
More info about this panel Spain.
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 Spain.
CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) that also includes the following genes: ZIC3 CFC1 MED13L GDF1
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.
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.
Transposition of the Great Arteries , Panel Massive Sequencing (NGS) GDF1, MED13L Genes Panel
Spain.
By Reference Laboratory Genetics Transposition of the Great Arteries , Panel Massive Sequencing (NGS) GDF1, MED13L Genes that also includes the following genes: MED13L GDF1
More info about this panel Spain.
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