Trait

Spontaneous collapsed lung

Clinical name: Spontaneous pneumothorax

Pneumothorax occurring without traumatic injury to the chest or lung.

HPO HP:0002108

Body system: Abnormality of the respiratory system

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17 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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20 genes linked to Spontaneous collapsed lung

Changes in these genes cause rare conditions in which Spontaneous collapsed lung 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
COL3A1collagen type III alpha 1 chain	Always	In 1 condition
ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3	Often (30–79%)	In 1 condition
ATP6V1E1ATPase H+ transporting V1 subunit E1	Often (30–79%)	In 1 condition
CAV1caveolin 1	Often (30–79%)	In 1 condition
FLCNfolliculin	Often (30–79%)	In 3 conditions
PRDM10PR/SET domain 10	Often (30–79%)	In 1 condition
RAI1retinoic acid induced 1	Often (30–79%)	In 1 condition
IPO8importin 8	Sometimes (5–29%)	In 1 condition
MAP2K1mitogen-activated protein kinase kinase 1	Sometimes (5–29%)	In 1 condition
NRASNRAS proto-oncogene, GTPase	Sometimes (5–29%)	In 1 condition
SFTPCsurfactant protein C	Sometimes (5–29%)	In 1 condition
SMAD2SMAD family member 2	Sometimes (5–29%)	In 1 condition
SMAD3SMAD family member 3	Sometimes (5–29%)	In 2 conditions
TGFB2transforming growth factor beta 2	Sometimes (5–29%)	In 1 condition
TGFB3transforming growth factor beta 3	Sometimes (5–29%)	In 1 condition
TGFBR1transforming growth factor beta receptor 1	Sometimes (5–29%)	In 1 condition
TGFBR2transforming growth factor beta receptor 2	Sometimes (5–29%)	In 2 conditions
THSD4thrombospondin type 1 domain containing 4	Sometimes (5–29%)	In 1 condition
DZIP1LDAZ interacting zinc finger protein 1 like	Rarely (1–4%)	In 1 condition
PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Rarely (1–4%)	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

Spontaneous neonatal pneumothorax3 genes

Broader traits

Collapsed lung

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 2026.10.19-9814e911.

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