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Trait

Arterial tortuosity

Abnormal tortuous (i.e., twisted) form of arteries.

HPO HP:0005116

Summary

Body system
Abnormality of the cardiovascular system

10 genes linked to Arterial tortuosity

Changes in these genes cause rare conditions in which Arterial tortuosity 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.

GeneHow often it is seenConditions
EFEMP2EGF-like fibulin extracellular matrix protein 2AlwaysIn 1 condition
EMILIN1elastin microfibril interfacer 1AlwaysIn 1 condition
IPO8importin 8AlwaysIn 2 conditions
SMAD2SMAD family member 2AlwaysIn 2 conditions
TGFBR2transforming growth factor beta receptor 2AlwaysIn 2 conditions
SMAD3SMAD family member 3Very often (80–99%)In 3 conditions
TGFB2transforming growth factor beta 2Very often (80–99%)In 2 conditions
TGFB3transforming growth factor beta 3Very often (80–99%)In 1 condition
TGFBR1transforming growth factor beta receptor 1Very often (80–99%)In 2 conditions
NT5E5'-nucleotidase ectoSometimes (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.

Narrower traits

Broader traits

Abnormal systemic arterial morphologyTwisted blood vessels

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 2026.10.17-8666dff2.

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