Details of Disease | DrugMAP

General Information of Disease (ID: DISNM7SU)

Disease Name	Familial spontaneous pneumothorax
Synonyms	pneumothorax, primary spontaneous; spontaneous pneumothorax; primary spontaneous pneumothorax; Psp
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.
Disease Hierarchy	DISYKSRF: Genetic disease DISP86H1: Pneumothorax DISNM7SU: Familial spontaneous pneumothorax
Disease Identifiers	MONDO ID MONDO_0008259 UMLS CUI C1868193 OMIM ID 173600 MedGen ID 357445 Orphanet ID 2903 SNOMED CT ID 3.29E+14

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TPO	TT52XDZ	moderate	Biomarker	[1]
MSMB	TTYH1ZK	Strong	Biomarker	[2]
MUSK	TT6SA0X	Strong	Biomarker	[3]
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This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CERS1	OT6EYRM3	Limited	Genetic Variation	[4]
DCTN1	OT5B51FJ	Limited	Biomarker	[5]
HIF3A	OTPWAAMC	Limited	Altered Expression	[6]
MPRIP	OT5FV5NS	moderate	CausalMutation	[7]
BPIFA2	OTLFSDZD	Strong	Biomarker	[2]
FLAD1	OTY8R02L	Strong	Biomarker	[3]
FLCN	OTVM78XM	Strong	Autosomal dominant	[8]
PSPH	OTV1PVAX	Strong	Biomarker	[2]
PSPN	OT54LLZJ	Strong	Biomarker	[2]
RAPSN	OTGMSWDQ	Strong	Biomarker	[3]
REG1A	OTMHUH1D	Strong	Biomarker	[2]
RIDA	OTW4098I	Strong	Biomarker	[2]
STXBP3	OTTTYMAQ	Strong	Biomarker	[2]
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⏷ Show the Full List of 13 DOT(s)

References

1	Unraveling gut microbiota in Parkinson's disease and atypical parkinsonism.Mov Disord. 2019 Mar;34(3):396-405. doi: 10.1002/mds.27581. Epub 2018 Dec 21.
2	A novel dual-covering method in video-assisted thoracic surgery for pediatric primary spontaneous pneumothorax.Surg Today. 2019 Jul;49(7):587-592. doi: 10.1007/s00595-019-01785-x. Epub 2019 Apr 6.
3	Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):677-94. doi: 10.1002/bdra.20611.
4	Air pollutants and atmospheric pressure increased risk of ED visit for spontaneous pneumothorax.Am J Emerg Med. 2018 Dec;36(12):2249-2253. doi: 10.1016/j.ajem.2018.04.020. Epub 2018 Apr 14.
5	PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins.Mov Disord. 2017 Jul;32(7):1016-1024. doi: 10.1002/mds.27029. Epub 2017 Jun 1.
6	Microarray detection of gene overexpression in primary spontaneous pneumothorax.Exp Lung Res. 2010 Aug;36(6):323-30. doi: 10.3109/01902141003628579.
7	FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.Autophagy. 2014 Oct 1;10(10):1749-60. doi: 10.4161/auto.29640. Epub 2014 Jul 22.
8	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.