Trait

Abnormal cardiovascular system physiology

Abnormal functionality of the cardiovascular system.

HPO HP:0011025

Also called: Abnormality of cardiovascular system physiology
Body system: Abnormality of the cardiovascular system

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7 genes linked to Abnormal cardiovascular system physiology

Changes in these genes cause rare conditions in which Abnormal cardiovascular system physiology is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
NT5E5'-nucleotidase ecto	Very often (80–99%)	In 1 condition
ACVRL1activin A receptor like type 1	Often (30–79%)	In 1 condition
ENGendoglin	Often (30–79%)	In 1 condition
GDF2growth differentiation factor 2	Often (30–79%)	In 1 condition
SMAD4SMAD family member 4	Often (30–79%)	In 1 condition
BAP1BRCA1 associated deubiquitinase 1	Sometimes (5–29%)	In 1 condition
SLC29A3solute carrier family 29 member 3	Sometimes (5–29%)	In 1 condition

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.

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Broader traits

Abnormality of the cardiovascular system

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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