PSP
MCID: PRM100
MIFTS: 49

Primary Spontaneous Pneumothorax (PSP) malady

Respiratory, Genetic categories

Summaries for Primary Spontaneous Pneumothorax

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

MalaCards: Primary Spontaneous Pneumothorax, also known as pneumothorax, primary spontaneous, is related to spontaneous pneumothorax and asthma, and has symptoms including autosomal dominant inheritance, abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax and structural anomalies of the respiratory system and diaphragm. An important gene associated with Primary Spontaneous Pneumothorax is FLCN (folliculin), and among its related pathways are Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response and Oxidative Stress. The compounds nadph and rotenone have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and colon, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Description from OMIM:47 173600

Aliases & Classifications for Primary Spontaneous Pneumothorax

Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Respiratory


Aliases & Descriptions:

primary spontaneous pneumothorax 21
pneumothorax, primary spontaneous 47
familial spontaneous pneumothorax 49
spontaneous pneumothorax 21
pneumothorax 21
psp 21


External Ids:

OMIM47 173600
ICD10 via Orphanet26 J93.1

Related Diseases for Primary Spontaneous Pneumothorax

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Primary Spontaneous Pneumothorax family:

spontaneous pneumothorax familial type spontaneous pneumothorax

Diseases related to Primary Spontaneous Pneumothorax via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1spontaneous pneumothorax31.9FLCN
2asthma30.2CCL11, LBP
3cystic fibrosis29.9LBP, HMOX1
4arthritis29.7LBP
5progressive supranuclear palsy10.7
6lymphangioleiomyomatosis10.5
7tuberculosis10.4
8interstitial emphysema10.4
9tuberculous pneumothorax10.4
10miliary tuberculosis10.3
11mitral valve prolapse10.3
12blastoma10.3
13silicosis10.3
14progressive supranuclear palsy atypical10.3
15bronchiolitis10.3
16marfan syndrome10.2
17bronchiolitis obliterans10.2
18pleuropulmonary blastoma10.2
19birt-hogg-dube syndrome10.2
20bronchopneumonia10.2
21horner's syndrome10.2
22corticobasal degeneration10.2
23hemopneumothorax10.2
24n syndrome10.2
25aspergillosis10.2
26spontaneous tension pneumothorax10.1
27pulmonary edema10.1
28birt–hogg–dubé syndrome10.1
29catamenial pneumothorax10.1
30birt-hogg-dub� syndrome10.1
31paresthesia10.1
32pulmonary function10.1
33wegener's granulomatosis10.1
34adenocarcinoma10.1
35bronchogenic cyst10.1
36swyer syndrome10.1
37swyer-james syndrome10.1
38root resorption10.1
39frontotemporal dementia10.1
40char syndrome10.1
41progressive supranuclear palsy - progressive non fluent aphasia10.1
42progressive supranuclear palsy - corticobasal syndrome10.1
43progressive supranuclear palsy - pure akinesia with gait freezing10.1
44allergic bronchopulmonary aspergillosis10.1
45pulmonary tuberculosis10.1
46duodenal ulcer10.1
47ankylosing spondylitis10.1
48tuberous sclerosis10.1
49rheumatoid lung disease10.1
50adult syndrome10.1

Graphical network of the top 20 diseases related to Primary Spontaneous Pneumothorax:



Diseases related to primary spontaneous pneumothorax

Clinical Features for Primary Spontaneous Pneumothorax

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

173600

Clinical synopsis from OMIM:

173600

Symptoms:

49
  • autosomal dominant inheritance
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • structural anomalies of the respiratory system and diaphragm

Drugs & Therapeutics for Primary Spontaneous Pneumothorax

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Primary Spontaneous Pneumothorax

Drug clinical trials:

Search ClinicalTrials for Primary Spontaneous Pneumothorax

Search NIH Clinical Center for Primary Spontaneous Pneumothorax

Search CenterWatch for Primary Spontaneous Pneumothorax

Genetic Tests for Primary Spontaneous Pneumothorax

Anatomical Context for Primary Spontaneous Pneumothorax

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Spontaneous Pneumothorax:

33
Skin, Lung, Colon

Animal Models for Primary Spontaneous Pneumothorax or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Primary Spontaneous Pneumothorax:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0LBP, HIF1A, HMOX1, SOD1
2MP:00053978.0SOD1, CCL11, FLCN, HMOX1, HIF1A
3MP:00053877.4HMOX1, HIF1A, FLCN, LBP, SOD1, CCL11

Publications for Primary Spontaneous Pneumothorax

Sources:
51PubMed
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Articles related to Primary Spontaneous Pneumothorax:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Innate type 2 immunity is associated with eosinophilic pleural effusion in primary spontaneous pneumothorax. (23815597)
2013
2
Single-incision thoracoscopic surgery for primary spontaneous pneumothorax using the SILS port compared with conventional three-port surgery. (22692464)
2013
3
Simple aspiration and drainage and intrapleural minocycline pleurodesis versus simple aspiration and drainage for the initial treatment of primary spontaneous pneumothorax: an open-label, parallel-group, prospective, randomised, controlled trial. (23489754)
2013
4
Videos in clinical medicine. Needle aspiration of primary spontaneous pneumothorax. (23656667)
2013
5
Pleurodesis for primary spontaneous pneumothorax. (23870525)
2013
6
The Effect of Thoracoscopic Pleurodesis in Primary Spontaneous Pneumothorax: Apical Parietal Pleurectomy versus Pleural Abrasion. (23130305)
2012
7
Pleural abrasion for mechanical pleurodesis in surgery for primary spontaneous pneumothorax: is it effective? (22318062)
2012
8
Comparison of needlescopic and conventional video-assisted thoracic surgery for primary spontaneous pneumothorax. (21574829)
2012
9
Primary spontaneous pneumothorax--the role of the emergency observation unit. (20825809)
2011
10
Uniportal video-assisted thoracic surgery for primary spontaneous pneumothorax using a single-incision laparoscopic surgery port: a feasible and safe procedure. (21136111)
2011
11
Primary spontaneous pneumothorax and mitral valve prolapse are not associated. (21979885)
2011
12
Management of primary spontaneous pneumothorax in children. (21482575)
2011
13
Catamenial pneumothorax: a rare cause of primary spontaneous pneumothorax. (21818932)
2011
14
Radiological predictors of recurrent primary spontaneous pneumothorax following non-surgical management. (20673650)
2010
15
Air pollution, weather variations and primary spontaneous pneumothorax. (22263010)
2010
16
Induction of heme oxygenase-1, biliverdin reductase and H-ferritin in lung macrophage in smokers with primary spontaneous pneumothorax: role of HIF-1alpha. (20526373)
2010
17
Primary spontaneous pneumothorax in pediatric patients: our 7-year experience. (19943781)
2010
18
Evidence-based emergency medicine/systematic review abstract: Simple aspiration compared to chest tube insertion in the management of primary spontaneous pneumothorax. (19013686)
2009
19
Thoracoscopic bleb resection using two-lung ventilation anesthesia with low tidal volume for primary spontaneous pneumothorax. (19231412)
2009
20
Outpatient management of primary spontaneous pneumothorax in the emergency department of a community hospital using a small-bore catheter and a Heimlich valve. (19438414)
2009
21
Complete atelectasis of the lung in patients with primary spontaneous pneumothorax. (19231410)
2009
22
Evidence-based management of paediatric primary spontaneous pneumothorax. (19651381)
2009
23
Deviation from published guidelines in the management of primary spontaneous pneumothorax in Australia. (18190419)
2008
24
Surgical pleurodesis for Vanderschueren's stage III primary spontaneous pneumothorax. (18057049)
2008
25
Association between anger and first-onset primary spontaneous pneumothorax. (18585536)
2008
26
Simultaneous bilateral primary spontaneous pneumothorax. (18197926)
2008
27
Uniportal video-assisted thoracic surgery for primary spontaneous pneumothorax: clinical and economic analysis in comparison to the traditional approach. (17984169)
2008
28
Long-term follow-up of thoracoscopic talc pleurodesis for primary spontaneous pneumothorax. (17766637)
2007
29
Contralateral recurrence of primary spontaneous pneumothorax. (17550937)
2007
30
Prevalence of mitral valve prolapse in primary spontaneous pneumothorax. (17064962)
2006
31
Primary spontaneous pneumothorax: 1-year recurrence rate after simple aspiration. (16525236)
2006
32
Routine histological analysis of resected lung tissue in primary spontaneous pneumothorax -- is it justified? (16497556)
2006
33
Do we know the ideal surgical treatment for primary spontaneous pneumothorax? (16675243)
2006
34
Videothoracoscopic talc poudrage in primary spontaneous pneumothorax: a single-institution experience in 861 cases. (16434260)
2006
35
Aspiration versus tube drainage in primary spontaneous pneumothorax: a randomised study. (16507846)
2006
36
Video-assisted thoracoscopic management of recurrent primary spontaneous pneumothorax after prior talc pleurodesis: a feasible, safe and efficient treatment option. (15519177)
2004
37
Characterisation of pleural inflammation occurring after primary spontaneous pneumothorax. (15219004)
2004
38
Video-assisted thoracoscopic suture closure of blebs to treat primary spontaneous pneumothorax. (14974660)
2004
39
Effects of timing of thoracoscopic surgery for primary spontaneous pneumothorax on prognosis and costs. (15191873)
2004
40
Axillary thoracotomy versus videothoracoscopy for the treatment of primary spontaneous pneumothorax. (15276488)
2004
41
Primary spontaneous pneumothorax with clinical manifestation mimicking acute cholecystitis. (15028343)
2004
42
Role of chest CT scan in determining etiology of primary spontaneous pneumothorax. (12866634)
2003
43
Primary spontaneous pneumothorax in a track athlete. (12394207)
2002
44
Ipsilateral recurrence frequency after video-assisted thoracoscopic surgery for primary spontaneous pneumothorax. (11197818)
2000
45
Primary spontaneous pneumothorax: one-stage treatment by bilateral videothoracoscopy. (10969654)
2000
46
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. (9624302)
1998
47
Video-assisted thoracoscopic surgery for primary spontaneous pneumothorax. (7945061)
1994
48
Primary spontaneous pneumothorax. Therapeutic considerations. (8126389)
1993
49
On the inheritance of primary spontaneous pneumothorax. (1897568)
1991
50
Primary spontaneous pneumothorax and smoking. (1203668)
1975

Genetic Variations for Primary Spontaneous Pneumothorax

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Primary Spontaneous Pneumothorax:

63
id Symbol AA change Variation SNP ID
1FLCNp.Glu132LysVAR_066024
2FLCNp.His429TyrVAR_066028

Expression for genes affiliated with Primary Spontaneous Pneumothorax

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Spontaneous Pneumothorax

Search GEO for disease gene expression data for Primary Spontaneous Pneumothorax.

Pathways for genes affiliated with Primary Spontaneous Pneumothorax

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome, 52QIAGEN
See all sources

Pathways related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LBP, CCL11
29.2HMOX1, SOD1
39.1HMOX1, FTMT
4
Hide members
9.0HMOX1, BLVRA
59.0BLVRA, HMOX1
6
Hide members
9.0HMOX1, BLVRA

Compounds for genes affiliated with Primary Spontaneous Pneumothorax

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1nadph45 2411.3BLVRA
2rotenone4510.1HMOX1
3luminol4510.1SOD1, CCL11
4superoxide45 2410.7LBP, HMOX1
5nitroglycerin45 1110.6HIF1A, SOD1
6ptio459.6SOD1, HMOX1
73-nitrotyrosine459.6SOD1, HMOX1
8sodium azide459.6SOD1, HMOX1
9fenton459.5HMOX1, SOD1
10ebselen459.5HMOX1, SOD1
11endotoxin459.5FTMT, LBP, CCL11
12Vitamin E119.5HMOX1, SOD1
13deta nonoate459.5HMOX1, HIF1A
14diphenyleneiodonium459.5HIF1A, SOD1
15allopurinol45 50 1111.5HMOX1, SOD1
16cobalt chloride459.5HMOX1, HIF1A
178-isoprostane459.4HMOX1, SOD1
18biliverdin45 2410.4HMOX1, BLVRA
19sodium arsenite459.4HMOX1, SOD1
20haem459.3HMOX1, BLVRA
21ns 39845 6010.3HMOX1, HIF1A
22alpha lipoic acid459.2SOD1, HMOX1
23l-nmma459.2HIF1A, SOD1
24trolox459.1HMOX1, HIF1A, SOD1
25s-nitroso-n-acetylpenicillamine459.1SOD1, HIF1A, HMOX1
26gsno459.1SOD1, HIF1A, HMOX1
27indomethacin45 60 29 1112.1CCL11, SOD1, HMOX1
28manganese superoxide459.1SOD1, HIF1A, HMOX1
296-hydroxydopamine459.1HMOX1, SOD1
30pdtc459.1SOD1, HIF1A, HMOX1
31sodium nitroprusside459.1HMOX1, HIF1A, SOD1
32resveratrol45 60 11 2412.1SOD1, HIF1A, HMOX1
33egcg459.0HMOX1, HIF1A, SOD1
34quercetin45 60 11 2412.0HMOX1, HIF1A, SOD1
35arsenite45 2410.0SOD1, HIF1A, HMOX1
36sb 20358045 6010.0HMOX1, HIF1A, CCL11
37ascorbic acid45 2410.0HMOX1, HIF1A, SOD1
38histamine45 29 2410.9CCL11, HIF1A, HMOX1
39ly294002458.8HMOX1, HIF1A, CCL11
40nadh45 11 2410.8SOD1, BLVRA, HMOX1
41actinomycin d458.8HMOX1, HIF1A, LBP, CCL11
42n acetylcysteine458.7CCL11, SOD1, HIF1A, HMOX1
43dexamethasone45 50 29 1111.7CCL11, LBP, HIF1A, HMOX1
44deferoxamine45 119.6SOD1, HIF1A, FTMT, HMOX1
45iron45 249.6HMOX1, FTMT, HIF1A, SOD1
46nitric oxide45 11 2410.3HMOX1, HIF1A, LBP, SOD1, CCL11
47alanine458.3HMOX1, HIF1A, LBP, SOD1, CCL11
48oxygen45 249.2HMOX1, FTMT, BLVRA, LBP, CCL11

GO Terms for genes affiliated with Primary Spontaneous Pneumothorax

Sources:
16Gene Ontology
See all sources

Cellular components related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.4HMOX1, LBP, SOD1, CCL11

Biological processes related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chemokine productionGO:0327229.7HIF1A, LBP
2positive regulation of endothelial cell proliferationGO:0019389.6HIF1A, CCL11
3muscle cell cellular homeostasisGO:0467169.6HIF1A, SOD1
4negative regulation of TOR signaling cascadeGO:0320079.5HIF1A, FLCN
5regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:0436199.4HMOX1, HIF1A
6heme catabolic processGO:0421679.2BLVRA, HMOX1
7porphyrin-containing compound metabolic processGO:0067789.0BLVRA, HMOX1
8positive regulation of angiogenesisGO:0457668.9HMOX1, HIF1A, CCL11
9response to hydrogen peroxideGO:0425428.9HMOX1, SOD1
10negative regulation of neuron apoptotic processGO:0435248.8SOD1, HIF1A, HMOX1
11cellular iron ion homeostasisGO:0068798.4HMOX1, FTMT, HIF1A, SOD1

Products for genes affiliated with Primary Spontaneous Pneumothorax

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Sources for Primary Spontaneous Pneumothorax

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet