has material basis in germline mutation in FLCN pneumothorax hereditary disease familial spontaneous pneumothorax https://www.malacards.org/card/familial_spontaneous_pneumothorax https://www.malacards.org/card/pneumothorax_primary_spontaneous icd11.foundation:319022944 DOID:0080218 UMLS:C1868193 spontaneous pneumothorax Orphanet:2903 primary spontaneous pneumothorax pneumothorax, primary spontaneous MONDO:0008259 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. Psp OMIM:173600 GARD:0004997 MESH:C566795 MEDGEN:357445 SCTID:715219001