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Trait

Pulmonary bulla

Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.

HPO HP:0032446

Summary

Also called
Pulmonary bullae
Body system
Abnormality of the respiratory system

4 genes linked to Pulmonary bulla

Changes in these genes cause rare conditions in which Pulmonary bulla 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
AKT1AKT serine/threonine kinase 1Often (30–79%)In 1 condition
CARD10caspase recruitment domain family member 10Often (30–79%)In 1 condition
COL3A1collagen type III alpha 1 chainOften (30–79%)In 1 condition
EFEMP1EGF-like fibulin extracellular matrix protein 1Sometimes (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

Emphysema

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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