Trait
Collapsed lung
Clinical name: Pneumothorax
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Summary
- Body system
- Abnormality of the respiratory system
Reference genomeGRCh38hg38
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Get my Genome Test66 genes linked to Collapsed lung
Changes in these genes cause rare conditions in which 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 2 conditions |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Always | In 1 condition |
| FLCNfolliculin | Very often (80–99%) | In 2 conditions |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 2 conditions |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 2 conditions |
| FBLN5fibulin 5 | Often (30–79%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 1 condition |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 2 conditions |
| DSEdermatan sulfate epimerase | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 2 conditions |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FOXE3forkhead box E3 | Sometimes (5–29%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| LOXlysyl oxidase | Sometimes (5–29%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Sometimes (5–29%) | In 1 condition |
| MYH11myosin heavy chain 11 | Sometimes (5–29%) | In 1 condition |
| MYLKmyosin light chain kinase | Sometimes (5–29%) | In 1 condition |
| PRDM10PR/SET domain 10 | Sometimes (5–29%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Sometimes (5–29%) | In 1 condition |
| SLC34A2solute carrier family 34 member 2 | 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 |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Sometimes (5–29%) | In 2 conditions |
| 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 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| CEACAM3CEA cell adhesion molecule 3 | Rarely (1–4%) | In 1 condition |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CEACAM6CEA cell adhesion molecule 6 | Rarely (1–4%) | In 1 condition |
| CFTRCF transmembrane conductance regulator | Rarely (1–4%) | In 1 condition |
| CLCA4chloride channel accessory 4 | Rarely (1–4%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Rarely (1–4%) | In 1 condition |
| DCTN4dynactin subunit 4 | Rarely (1–4%) | In 1 condition |
| EDNRAendothelin receptor type A | Rarely (1–4%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Rarely (1–4%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Rarely (1–4%) | In 1 condition |
| GCLCglutamate-cysteine ligase catalytic subunit | Rarely (1–4%) | In 1 condition |
| GSTM3glutathione S-transferase mu 3 | Rarely (1–4%) | In 1 condition |
| HFEhomeostatic iron regulator | Rarely (1–4%) | In 1 condition |
| HMOX1heme oxygenase 1 | Rarely (1–4%) | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Rarely (1–4%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Rarely (1–4%) | In 1 condition |
| LAMB3laminin subunit beta 3 | Rarely (1–4%) | In 1 condition |
| LAMC2laminin subunit gamma 2 | Rarely (1–4%) | In 1 condition |
| MIFmacrophage migration inhibitory factor | Rarely (1–4%) | In 1 condition |
| SERPINA1serpin family A member 1 | Rarely (1–4%) | In 1 condition |
| SLC11A1solute carrier family 11 member 1 | Rarely (1–4%) | In 1 condition |
| SLC26A9solute carrier family 26 member 9 | Rarely (1–4%) | In 1 condition |
| SLC6A14solute carrier family 6 member 14 | Rarely (1–4%) | In 1 condition |
| SLC9A3solute carrier family 9 member A3 | Rarely (1–4%) | In 1 condition |
| STX1Asyntaxin 1A | Rarely (1–4%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Rarely (1–4%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | 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.
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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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