familial spontaneous pneumothorax
Findings
No curated finding names familial spontaneous pneumothorax yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
Definition from the Mondo Disease Ontology (MONDO:0008259), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pleura morphologyHPOHP:0002103
- Very frequent (80% to 99% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Very frequent (80% to 99% of cases)
- PneumothoraxHPOHP:0002107
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FLCNHGNC:27310
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of