PRDM6 gene related symptoms and diseases
All the information presented here about the PRDM6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRDM6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ventricular septal defect | Uncommon - Between 30% and 50% cases |
| Congestive heart failure | Uncommon - Between 30% and 50% cases |
| Patent ductus arteriosus | Uncommon - Between 30% and 50% cases |
| Abnormal heart morphology | Uncommon - Between 30% and 50% cases |
| Hypoplastic left heart | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PRDM6 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pulmonary artery stenosis
Rare diseases associated to PRDM6 gene
Here you will find a list of rare diseases related to the PRDM6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PATENT DUCTUS ARTERIOSUS 3; PDA3
Description
The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by Hajj and Dagle, 2012).For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (OMIM ).
Most common symptoms of PATENT DUCTUS ARTERIOSUS 3; PDA3
- Ventricular septal defect
- Congestive heart failure
- Patent ductus arteriosus
- Abnormal heart morphology
- Hypoplastic left heart
More info about PATENT DUCTUS ARTERIOSUS 3; PDA3
SOURCES: OMIM
FAMILIAL PATENT ARTERIAL DUCT
Description
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.
More info about FAMILIAL PATENT ARTERIAL DUCT
SOURCES: ORPHANET
Search interest in PRDM6
Potential gene panels for PRDM6 gene
PRDM6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRDM6 gene.
More info about this panel United States.
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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