Traits

Traits linked to PLD1

phospholipase D1

The Human Phenotype Ontology links 27 traits to PLD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Left atrial enlargement	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Pulmonary artery atresia	Often (30–79%)
Subpulmonary stenosis	Often (30–79%)
Tricuspid atresia	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Double inlet left ventricle	Sometimes (5–29%)
Left aortic arch with cervical origin of the right subclavian artery	Sometimes (5–29%)
Muscular ventricular septal defect	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Small right heart chamber	Sometimes (5–29%)
Tricuspid stenosis	Sometimes (5–29%)
Valvular pulmonary stenosis	Sometimes (5–29%)
Aberrant right subclavian artery	Not recorded
Mitral stenosis	Not recorded
Mitral valve prolapse	Not recorded
Patent foramen ovale	Not recorded
Tricuspid regurgitation	Not recorded
Tricuspid valve prolapse	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Not recorded
Hydroureter	Not recorded
Urethral diverticulum	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Not recorded
Hydrops fetalis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Not recorded

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PLD1 and how often each is seen. Find out more at hpo.jax.org.

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