PLD1 gene related symptoms and diseases

All the information presented here about the PLD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PLD1 gene

Symptoms // Phenotype % Cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Spontaneous abortion Very Common - Between 80% and 100% cases
Tricuspid atresia Very Common - Between 80% and 100% cases
Arteria lusoria Very Common - Between 80% and 100% cases
Tricuspid valve prolapse Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PLD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pulmonary artery atresia
  • Mitral stenosis
  • Hydroureter
  • Tricuspid regurgitation
  • Patent foramen ovale
  • Hydrops fetalis
  • Edema
  • Mitral regurgitation

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PLD1 gene

Here you will find a list of rare diseases related to the PLD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

Most common symptoms of CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Hernia
  • Inguinal hernia


More info about CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

SOURCES: OMIM MESH


Potential gene panels for PLD1 gene

PLD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLD1 gene.

More info about this panel
United States.

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