Trait
Aortic tortuosity
Abnormal tortuous (i.e., twisted) form of the aorta.
Summary
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test8 genes linked to Aortic tortuosity
Changes in these genes cause rare conditions in which Aortic 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| EMILIN1elastin microfibril interfacer 1 | Always | In 1 condition |
| IPO8importin 8 | Always | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Very often (80–99%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Often (30–79%) | In 1 condition |
| SMAD6SMAD family member 6 | 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.
Broader traits
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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