GATA6 gene related symptoms and diseases
All the information presented here about the GATA6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GATA6 gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormal heart morphology | Uncommon - Between 30% and 50% cases |
Abnormality of cardiovascular system morphology | Uncommon - Between 30% and 50% cases |
Atrial septal defect | Uncommon - Between 30% and 50% cases |
Ventricular septal defect | Uncommon - Between 30% and 50% cases |
Respiratory distress | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GATA6 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormal cardiac septum morphology
- Arrhythmia
- Global developmental delay
- Tetralogy of Fallot
- Truncus arteriosus
Rarely - Less than 30% cases
- Pulmonic stenosis
- Secundum atrial septal defect
- Growth delay
And 156 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GATA6 gene
Here you will find a list of rare diseases related to the GATA6. 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
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 TYPESOURCES: ORPHANET
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
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Cleft palate
- Depressed nasal bridge
SOURCES: OMIM
ATRIAL SEPTAL DEFECT 9; ASD9
Most common symptoms of ATRIAL SEPTAL DEFECT 9; ASD9
- Pulmonary arterial hypertension
- Secundum atrial septal defect
SOURCES: OMIM
PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME
Alternate names
PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease, pancreatic agenesis and congenital heart defects, pachd, yorifuji-okuno syndrome
Description
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
Most common symptoms of PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Failure to thrive
CONGENITAL DIAPHRAGMATIC HERNIA
Alternate names
CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of, dih, diaphragm, unilateral agenesis of, hernia, congenital diaphragmatic, hcd, cdh, diaphragmatic defect, congenital
Description
Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Most common symptoms of CONGENITAL DIAPHRAGMATIC HERNIA
- Global developmental delay
- Hearing impairment
- Growth delay
- Hypertension
- Respiratory distress
FAMILIAL ATRIAL FIBRILLATION
Alternate names
FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant
Description
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
Most common symptoms of FAMILIAL ATRIAL FIBRILLATION
- Pain
- Respiratory distress
- Arrhythmia
- Stroke
- Dilated cardiomyopathy
ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5
Description
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (OMIM ), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (OMIM ) (summary by Carmi et al., 1992).For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (OMIM ).
Most common symptoms of ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5
- Atrial septal defect
- Abnormality of cardiovascular system morphology
- Abnormal heart morphology
- Abnormal cardiac septum morphology
- Atrioventricular canal defect
SOURCES: OMIM
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 SYNDROMESOURCES: ORPHANET
Search interest in GATA6
Potential gene panels for GATA6 gene
Maturity-Onset Diabetes of the Young Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP
More info about this panelHeterotaxy V2 Panel Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL
More info about this panelComprehensive Neonatal Diabetes Mutation Analysis Panel
By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3
More info about this panelGATA6 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the GATA6 gene.
More info about this panelGATA6 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the GATA6 gene.
More info about this panelNeonatal Diabetes Mellitus Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1
More info about this panelAtrial septal defect 9 (sequence analysis of GATA6 gene) Panel
By CGC Genetics
This panel specifically test the GATA6 gene.
More info about this panelDiabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel
By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS
More info about this panelCongenital 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 panelPancreatic agenesis and congenital heart defects Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GATA6 gene.
More info about this panelTetralogy of Fallot Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GATA6 gene.
More info about this panelCongenital heart defects panel Panel
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 panelAtrial septal defect type 9 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GATA6 gene.
More info about this panelAtrioventricular septal defect type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GATA6 gene.
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 panelSingle gene testing GATA6 Panel
By CeGaT GmbH
This panel specifically test the GATA6 gene.
More info about this panelAuricular Fibrillation Panel Panel
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelDilated Cardiomyopathy Panel Panel
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelCongenital Heart Diseases Panel Panel
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelMaturity-onsetdiabetes of the youngMODY Panel
By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4
More info about this panelDyslipidemias / Early atherosclerosis Panel
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panelAtrial fibrillation Panel Panel
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelCongenital heart diseases Panel Panel
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 panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelPancreatic Agenesis and Congenital Heart Defects Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the GATA6 gene.
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 panelDiabetes mellitus, neonatal permanent Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panelEndocrine Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelEndocrine Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelAtrial Fibrillation NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Atrial Fibrillation NGS Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A HCN4 SCN3B GATA4 GATA6 GJA5
More info about this panelMODY Neonatal Diabetes NGS Panel Panel
By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57
More info about this panelGATA6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GATA6 gene.
More info about this panelAtrial Fibrillation Panel Panel
By Blueprint Genetics Atrial Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 CACNB2 LDB3 HCN4 SCN3B GATA6
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
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 panelArrhythmia Panel Panel
By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panelComprehensive Monogenic Diabetes Panel Panel
By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelDilated Cardiomyopathy (DCM) Panel Panel
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCONGENITAL HEART DEFECTS: NGS PANEL Panel
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 panelFAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2
More info about this panelPermanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel
By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK
More info about this panelConotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
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 panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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