Details of Disease

General Information of Disease (ID: DISP86H1)

• Disease Name: Pneumothorax
• Synonyms: pneumothorax (disease); pneumothorax
• Definition: Abnormal presence of air in the pleural cavity.
• Disease Hierarchy:
  DISHT9AE: Pleural disease
  DISP86H1: Pneumothorax
• Disease Identifiers:
  MONDO ID: MONDO_0002076
  MESH ID: D011030
  UMLS CUI: C0032326
  MedGen ID: 19365
  HPO ID: HP:0002107
  SNOMED CT ID: 36118008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABL1	TT6B75U	Strong	CausalMutation	[1]
PRCP	TTTJZ4M	Strong	Biomarker	[2]
TST	TT51OTS	Strong	Biomarker	[3]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELN	OTFSO7PG	Limited	Biomarker	[4]
FLCN	OTVM78XM	Limited	Biomarker	[5]
TESC	OTI8C76M	Limited	Biomarker	[6]
BPIFA2	OTLFSDZD	Strong	Genetic Variation	[7]
CENPJ	OTZCQZN5	Strong	Genetic Variation	[8]
EMB	OT67E3Q1	Strong	Biomarker	[9]
FASTK	OTTHFZMP	Strong	Genetic Variation	[10]
FEV	OTYEC4IR	Strong	Biomarker	[4]
PRPH2	OTNH2G5H	Strong	Biomarker	[3]
PSPH	OTV1PVAX	Strong	Genetic Variation	[7]
PSPN	OT54LLZJ	Strong	Genetic Variation	[7]
RIDA	OTW4098I	Strong	Genetic Variation	[7]
SMIM20	OTZI1KFR	Strong	Genetic Variation	[11]
STXBP3	OTTTYMAQ	Strong	Genetic Variation	[7]
TECR	OT2NT4MV	Strong	Biomarker	[12]
TSC1	OTFF4YZ7	Strong	Biomarker	[6]

References

• [1] Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.
• [2] A Model to Predict In-Hospital Mortality in HIV/AIDS Patients with Pneumocystis Pneumonia in China: The Clinical Practice in Real World.Biomed Res Int. 2019 Feb 17;2019:6057028. doi: 10.1155/2019/6057028. eCollection 2019.
• [3] Ante-, peri- and postnatal factors associated with intraventricular hemorrhage in very premature infants.Early Hum Dev. 2018 Jan;116:1-8. doi: 10.1016/j.earlhumdev.2017.08.010. Epub 2017 Nov 5.
• [4] Genetic and morphologic determinants of pneumothorax in lymphangioleiomyomatosis.Am J Physiol Lung Cell Mol Physiol. 2007 Sep;293(3):L800-8. doi: 10.1152/ajplung.00176.2007. Epub 2007 Jul 6.
• [5] The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dub Syndrome.Respiration. 2019;98(2):125-132. doi: 10.1159/000498973. Epub 2019 Jul 2.
• [6] Total pleural coverage followed by lung transplantation in patient with lymphangioleiomyomatosis.Gen Thorac Cardiovasc Surg. 2020 Oct;68(10):1208-1211. doi: 10.1007/s11748-019-01217-0. Epub 2019 Oct 14.
• [7] Primary and Secondary Spontaneous Pneumothorax: Prevalence, Clinical Features, and In-Hospital Mortality.Can Respir J. 2017;2017:6014967. doi: 10.1155/2017/6014967. Epub 2017 Mar 13.
• [8] High-flow nasal cannula versus nasal continuous positive airway pressure for respiratory support in preterm infants: a meta-analysis of randomized controlled trials.J Matern Fetal Neonatal Med. 2021 Jan;34(2):259-266. doi: 10.1080/14767058.2019.1606193. Epub 2019 Apr 24.
• [9] Comparison of Utilization Trends, Indications, and Complications of Endomyocardial Biopsy in Native Versus Donor Hearts (from the Nationwide Inpatient Sample 2002 to 2014).Am J Cardiol. 2018 Feb 1;121(3):356-363. doi: 10.1016/j.amjcard.2017.10.021. Epub 2017 Oct 31.
• [10] The ABCDs of ResUS - Resuscitation Ultrasound.Cureus. 2019 May 7;11(5):e4616. doi: 10.7759/cureus.4616.
• [11] Extra-pleuric coaxial system for CT-guided percutaneous fine-needle aspiration biopsy (FNAB) of small (?0mm) lung nodules: a novel technique using multiplanar reconstruction (MPR) images.Med Oncol. 2017 Feb;34(2):17. doi: 10.1007/s12032-016-0871-4. Epub 2016 Dec 29.
• [12] Clinical presentation and treatment of catameinal pneumothorax and endometriosis-related pneumothorax.Expert Rev Respir Med. 2018 Dec;12(12):1031-1036. doi: 10.1080/17476348.2018.1551133. Epub 2018 Nov 27.