H01110 | |
H number | H01110 |
Name | Pneumothorax |
Description | Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion. Spontaneous pneumothorax can be subclassified as primary or secondary. Primary spontaneous pneumothorax (PSP), which is defined as a pneumothorax without underlying lung disease, predominantly occurs in young, thin males. It is usually caused by ruptured pleural blebs or bullae. Approximately 10% of patients with PSP have a positive family history. Gene mutations in folliculin (FLCN) have been found. |
Category | Respiratory system disease |
Network | - |
Gene | FLCN [HSA:201163] [KO:K09594] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | PSP might be associated with some congenital disorders such as Marfan syndrome [DS:H00653]. |
Other DBs | ICD-11: CB21 ICD-10: J93.1 OMIM: 173600 |
Reference | PMID:22343477 AUTHORS Grundy S, Bentley A, Tschopp JM TITLE Primary spontaneous pneumothorax: a diffuse disease of the pleura. JOURNAL Respiration 83:185-9 (2012) DOI:10.1159/000335993 PMID:18505456 (FLCN) AUTHORS Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L TITLE Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. JOURNAL Clin Genet 74:178-83 (2008) DOI:10.1111/j.1399-0004.2008.01030.x |