PSP
MCID: PRM100
MIFTS: 55

Primary Spontaneous Pneumothorax (PSP) malady

Genetic diseases, Respiratory diseases, Rare diseases categories
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Summaries for Primary Spontaneous Pneumothorax

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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 familial spontaneous pneumothorax, is related to spontaneous pneumothorax and pneumothorax, and has symptoms including structural anomalies of the respiratory system and diaphragm, abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax and autosomal dominant inheritance. An important gene associated with Primary Spontaneous Pneumothorax is FLCN (folliculin), and among its related pathways are Mineral absorption and IL-10 Pathway. The compounds luminol and biliverdin have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and lung, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Description from OMIM:47 173600

Aliases & Classifications for Primary Spontaneous Pneumothorax

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21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

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


External Ids:

OMIM47 173600
ICD10 via Orphanet26 J93.1

Related Diseases for Primary Spontaneous Pneumothorax

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17GeneCards, 18GeneDecks
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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 214)
idRelated DiseaseScoreTop Affiliating Genes
1spontaneous pneumothorax32.1FLCN
2pneumothorax32.1FLCN
3pneumonia30.6HMOX1, CCL11, LBP
4bronchiolitis30.5CCL11
5birt-hogg-dube syndrome30.5FLCN
6myocardial infarction30.1CCL11, HIF1A, LBP
7leiomyoma29.8FLCN, CCL11
8progressive supranuclear palsy10.7
9endometriosis10.5
10lymphangioleiomyomatosis10.5
11spontaneous tension pneumothorax10.5
12tuberculosis10.5
13miliary tuberculosis10.4
14interstitial emphysema10.4
15mitral valve prolapse10.3
16blastoma10.3
17tuberculous pneumothorax10.3
18histiocytosis10.3
19progressive supranuclear palsy atypical10.3
20langerhans-cell histiocytosis10.3
21silicosis10.3
22sarcoma10.3
23bronchiolitis obliterans10.2
24horner's syndrome10.2
25pleuropulmonary blastoma10.2
26bronchopneumonia10.2
27mediastinitis10.2
28corticobasal degeneration10.2
29hemopneumothorax10.2
30marfan syndrome10.2
31aspergillosis10.2
32eosinophilia10.2
33lung cancer10.2
34pulmonary edema10.2
35cholecystitis10.2
36respiratory failure10.2
37catamenial pneumothorax10.2
38paresthesia10.2
39pulmonary function10.2
40adenocarcinoma10.1
41interstitial lung disease10.1
42pulmonary fibrosis10.1
43bronchogenic cyst10.1
44frontotemporal dementia10.1
45root resorption10.1
46progressive supranuclear palsy - progressive non fluent aphasia10.1
47progressive supranuclear palsy - corticobasal syndrome10.1
48progressive supranuclear palsy - pure akinesia with gait freezing10.1
49ankylosing spondylitis10.1
50duodenal ulcer10.1

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



Diseases related to primary spontaneous pneumothorax

Symptoms for Primary Spontaneous Pneumothorax

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

173600

Clinical features from OMIM:

173600

Symptoms:

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

Drugs & Therapeutics for Primary Spontaneous Pneumothorax

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Primary Spontaneous Pneumothorax

Search NIH Clinical Center for Primary Spontaneous Pneumothorax

Genetic Tests for Primary Spontaneous Pneumothorax

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Anatomical Context for Primary Spontaneous Pneumothorax

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33MalaCards
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MalaCards organs/tissues related to Primary Spontaneous Pneumothorax:

33
Colon, Skin, Lung, Testes

Animal Models for Primary Spontaneous Pneumothorax or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Primary Spontaneous Pneumothorax:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0HMOX1, SOD1, HIF1A, LBP
2MP:00053977.1FLCN, LBP, HIF1A, SOD1, CCL11, HMOX1
3MP:00053876.9HMOX1, LBP, HIF1A, SOD1, FLCN, CCL11

Publications for Primary Spontaneous Pneumothorax

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52PubMed
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Articles related to Primary Spontaneous Pneumothorax:

(show top 50)    (show all 212)
idTitleAuthorsYear
1
Innate type 2 immunity is associated with eosinophilic pleural effusion in primary spontaneous pneumothorax. (23815597)
2013
2
Management of primary spontaneous pneumothorax: an audit into practice. (23472395)
2013
3
What Factors Predict Recurrence after an Initial Episode of Primary Spontaneous Pneumothorax in Children? (24284502)
2013
4
A case of primary spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema following cough. (23875597)
2013
5
The Effect of Thoracoscopic Pleurodesis in Primary Spontaneous Pneumothorax: Apical Parietal Pleurectomy versus Pleural Abrasion. (23130305)
2012
6
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax. (22446046)
2012
7
Climatic conditions and the onset of primary spontaneous pneumothorax: an investigation of the influence of solar terms. (22377483)
2012
8
Pleural abrasion for mechanical pleurodesis in surgery for primary spontaneous pneumothorax: is it effective? (22318062)
2012
9
Radiological predictors of recurrent primary spontaneous pneumothorax following non-surgical management. (20673650)
2010
10
Video-assisted thoracoscopic surgery using single-lumen endotracheal tube anaesthesia in primary spontaneous pneumothorax. (20653920)
2010
11
Pleural granuloma mimicking malignancy 42 years after slurry talc injection for primary spontaneous pneumothorax. (20523052)
2010
12
Air pollution, weather variations and primary spontaneous pneumothorax. (22263010)
2010
13
Evidence-based emergency medicine/systematic review abstract: Simple aspiration compared to chest tube insertion in the management of primary spontaneous pneumothorax. (19013686)
2009
14
In patients with first-episode primary spontaneous pneumothorax is video-assisted thoracoscopic surgery superior to tube thoracostomy alone in terms of time to resolution of pneumothorax and incidence of recurrence? (19770136)
2009
15
Videothoracoscopic approach to recurrence primary spontaneous pneumothorax: using of electrocoagulation in small bulla/blebs. (23133103)
2009
16
Does video-assisted thoracoscopic pleurectomy result in better outcomes than open pleurectomy for primary spontaneous pneumothorax? (18287119)
2008
17
Video-assisted thoracoscopic surgery (VATS) for bilateral primary spontaneous pneumothorax. (18381810)
2008
18
Comparison of size classification of primary spontaneous pneumothorax by three international guidelines: a case for international consensus? (18789858)
2008
19
Deviation from published guidelines in the management of primary spontaneous pneumothorax in Australia. (18190419)
2008
20
Video-assisted thoracic surgery for primary spontaneous pneumothorax in children: is there an optimal technique? (19040924)
2008
21
Thoracoscopic total parietal pleurectomy for primary spontaneous pneumothorax. (18442607)
2008
22
Haemothorax after pig-tail catheter removal in a patient with primary spontaneous pneumothorax. (17351211)
2007
23
Video-assisted extrathoracic bleb excision: an ultra-minithoracotomy for primary spontaneous pneumothorax. (17943610)
2007
24
Retrospective comparison of needle thoracoscopy and conventional thoracoscopic surgery to treat primary spontaneous pneumothorax. (17450090)
2007
25
Video-assisted thoracoscopic surgery for primary spontaneous pneumothorax: clinicopathological correlation. (16376095)
2006
26
Prevalence of mitral valve prolapse in primary spontaneous pneumothorax. (17064962)
2006
27
Simplified stepwise management of primary spontaneous pneumothorax: a pilot study. (16507845)
2006
28
Does a thoracic epidural confer any additional benefit following video-assisted thoracoscopic pleurectomy for primary spontaneous pneumothorax? (15784372)
2005
29
Physical fitness after apical resection for the treatment of primary spontaneous pneumothorax. (16261980)
2005
30
Video-assisted thoracic surgery (VATS) for primary spontaneous pneumothorax: how I do it ? (16184724)
2005
31
Primary spontaneous pneumothorax in children: the role of CT in guiding management. (15767109)
2005
32
Aluminium and primary spontaneous pneumothorax. A suggestive but unconfirmed hypothesis. (17670347)
2005
33
Simultaneous left-sided, primary, spontaneous pneumothorax in identical twins. (15917725)
2005
34
Results of thoracoscopic pleural abrasion for primary spontaneous pneumothorax. (14752638)
2004
35
Video-assisted thoracoscopic management of recurrent primary spontaneous pneumothorax after prior talc pleurodesis: a feasible, safe and efficient treatment option. (15519177)
2004
36
Simple aspiration versus chest-tube insertion in the management of primary spontaneous pneumothorax: a systematic review. (15250222)
2004
37
Lung wedge resection improves outcome in stage I primary spontaneous pneumothorax. (15111189)
2004
38
Characterisation of pleural inflammation occurring after primary spontaneous pneumothorax. (15219004)
2004
39
Incidence of chest wall paresthesia after video-assisted thoracic surgery for primary spontaneous pneumothorax. (15145009)
2004
40
Pleural tenting in complicated primary spontaneous pneumothorax. (15041942)
2004
41
Role of chest CT scan in determining etiology of primary spontaneous pneumothorax. (12866634)
2003
42
Needlescopic versus conventional video-assisted thoracic surgery for primary spontaneous pneumothorax: a comparative study. (12683541)
2003
43
Management of primary spontaneous pneumothorax. (12806239)
2003
44
Thoracoscopic management of primary spontaneous pneumothorax. (12173891)
2002
45
Primary spontaneous pneumothorax in a track athlete. (12394207)
2002
46
Can CT scanning be used to select patients with unilateral primary spontaneous pneumothorax for bilateral surgery? (10936128)
2000
47
Physical development of surgically treated patients with primary spontaneous pneumothorax. (10531150)
1999
48
Video assisted thoracoscopic management of primary spontaneous pneumothorax. (9194286)
1997
49
Value of computed tomography of the lung in the management of primary spontaneous pneumothorax. (2063968)
1991
50
Chemical pleurodesis in primary spontaneous pneumothorax. (2763278)
1989

Variations for Primary Spontaneous Pneumothorax

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Primary Spontaneous Pneumothorax:

64
id Symbol AA change Variation ID SNP ID
1FLCNp.Glu132LysVAR_066024
2FLCNp.His429TyrVAR_066028

Expression for genes affiliated with Primary Spontaneous Pneumothorax

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 5Cell Signaling Technology
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Pathways related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FTMT, HMOX1
29.4HMOX1, BLVRA
39.3FLCN, HIF1A
49.3HMOX1, SOD1
59.1SOD1, HIF1A
6
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.1HMOX1, FTMT, BLVRA
79.0HMOX1, HIF1A
89.0HMOX1, HIF1A

Compounds for genes affiliated with Primary Spontaneous Pneumothorax

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1luminol459.9SOD1, CCL11
2biliverdin45 2410.8HMOX1, BLVRA
3Bilirubin249.8HMOX1, BLVRA
4haem459.7HMOX1, BLVRA
5ptio459.7SOD1, HMOX1
63-nitrotyrosine459.7HMOX1, SOD1
7sodium azide459.7HMOX1, SOD1
8fenton459.7SOD1, HMOX1
9ebselen459.7HMOX1, SOD1
10vitamin e51 1110.7HMOX1, SOD1
11allopurinol45 51 1111.6HMOX1, SOD1
128-isoprostane459.6HMOX1, SOD1
13sodium arsenite459.5SOD1, HMOX1
14endotoxin459.5LBP, FTMT, CCL11
15deta nonoate459.4HMOX1, HIF1A
16alpha lipoic acid459.4HMOX1, SOD1
17cobalt chloride459.4HMOX1, HIF1A
186-hydroxydopamine459.3SOD1, HMOX1
19nitroglycerin45 1110.2HIF1A, SOD1
20ns 39845 6110.2HIF1A, HMOX1
21nadh45 24 1111.2BLVRA, SOD1, HMOX1
22indomethacin45 29 61 1112.2HMOX1, CCL11, SOD1
23l-nmma459.0SOD1, HIF1A
24trolox459.0HMOX1, SOD1, HIF1A
25gsno459.0HMOX1, SOD1, HIF1A
26s-nitroso-n-acetylpenicillamine458.9HMOX1, SOD1, HIF1A
27rotenone458.9HIF1A, SOD1, HMOX1
28manganese superoxide458.9HIF1A, SOD1, HMOX1
29pdtc458.9HMOX1, SOD1, HIF1A
30sodium nitroprusside458.9HMOX1, SOD1, HIF1A
31resveratrol45 61 24 1111.9HIF1A, SOD1, HMOX1
32egcg458.9HIF1A, SOD1, HMOX1
33quercetin45 61 24 1111.9HMOX1, SOD1, HIF1A
34arsenite45 249.9HMOX1, SOD1, HIF1A
35sb 20358045 619.8HMOX1, CCL11, HIF1A
36diphenyleneiodonium458.8SOD1, HIF1A
37histamine45 29 2410.8HMOX1, CCL11, HIF1A
38ascorbic acid45 249.8HIF1A, SOD1, HMOX1
39ly294002458.7HMOX1, CCL11, HIF1A
40deferoxamine45 119.6HIF1A, SOD1, FTMT, HMOX1
41cyclosporin a45 29 6110.6HMOX1, CCL11, HIF1A
42iron45 249.5HIF1A, SOD1, FTMT, HMOX1
43nadph45 249.5HMOX1, SOD1, HIF1A, BLVRA
44n acetylcysteine458.5HMOX1, CCL11, SOD1, HIF1A
45actinomycin d458.5HMOX1, CCL11, HIF1A, LBP
46dexamethasone45 51 29 1111.4LBP, HIF1A, CCL11, HMOX1
47superoxide45 249.0LBP, HIF1A, SOD1, CCL11, HMOX1
48nitric oxide45 24 1110.0LBP, HIF1A, SOD1, CCL11, HMOX1
49alanine458.0HMOX1, CCL11, SOD1, HIF1A, LBP
50oxygen45 248.2HMOX1, CCL11, FTMT, SOD1, HIF1A, BLVRA

GO Terms for genes affiliated with Primary Spontaneous Pneumothorax

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16Gene Ontology
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Cellular components related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

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

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1heme catabolic processGO:0421679.7BLVRA, HMOX1
2porphyrin-containing compound metabolic processGO:0067789.6HMOX1, BLVRA
3negative regulation of TOR signalingGO:0320079.4FLCN, HIF1A
4response to hydrogen peroxideGO:0425429.3SOD1, HMOX1
5positive regulation of chemokine productionGO:0327229.3LBP, HIF1A
6regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:0436199.3HMOX1, HIF1A
7muscle cell cellular homeostasisGO:0467169.3SOD1, HIF1A
8regulation of blood pressureGO:0082179.2HMOX1, SOD1
9cellular response to hypoxiaGO:0714569.0HMOX1, HIF1A
10positive regulation of endothelial cell proliferationGO:0019388.9CCL11, HIF1A
11positive regulation of angiogenesisGO:0457668.8HMOX1, CCL11, HIF1A
12negative regulation of neuron apoptotic processGO:0435248.7HMOX1, SOD1, HIF1A
13cellular iron ion homeostasisGO:0068798.4HMOX1, FTMT, SOD1, HIF1A

Products for genes affiliated with Primary Spontaneous Pneumothorax

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Sources for Primary Spontaneous Pneumothorax

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet