KEGG   DISEASE: Pneumothorax
Entry
H01110                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Pleural, diaphragm or mediastinal disorders
   CB21  Pneumothorax
    H01110  Pneumothorax
Pathway
hsa04150  mTOR signaling pathway
Gene
FLCN [HSA:201163] [KO:K09594]
Comment
PSP might be associated with some congenital disorders such as Marfan syndrome [DS:H00653].
Other DBs
ICD-11: CB21
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
Reference
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
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