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Trait

Thoracic aorta calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.

HPO HP:0004962

Summary

Body system
Abnormality of the cardiovascular systemAbnormality of the musculoskeletal system

5 genes linked to Thoracic aorta calcification

Changes in these genes cause rare conditions in which Thoracic aorta calcification 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
GATA5GATA binding protein 5Very often (80–99%)In 1 condition
NKX2-5NK2 homeobox 5Very often (80–99%)In 1 condition
NOTCH1notch receptor 1Very often (80–99%)In 1 condition
ROBO4roundabout guidance receptor 4Very often (80–99%)In 1 condition
SMAD6SMAD family member 6Very often (80–99%)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

Calcification of the aorta

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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