Trait

Abnormal heart valve physiology

Any functional abnormality of a cardiac valve.

HPO HP:0031653

Body system: Abnormality of the cardiovascular system

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6 genes linked to Abnormal heart valve physiology

Changes in these genes cause rare conditions in which Abnormal heart valve 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
PLXND1plexin D1	Very often (80–99%)	In 1 condition
AIPAHR interacting HSP90 co-chaperone	Sometimes (5–29%)	In 1 condition
COL1A1collagen type I alpha 1 chain	Sometimes (5–29%)	In 1 condition
COL5A1collagen type V alpha 1 chain	Sometimes (5–29%)	In 1 condition
COL5A2collagen type V alpha 2 chain	Sometimes (5–29%)	In 1 condition
GPR101G protein-coupled receptor 101	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

Abnormal cardiovascular system physiology

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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