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
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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


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

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


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