MCID: SPN183
MIFTS: 52

Spontaneous Pneumothorax malady

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

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MalaCards: Spontaneous Pneumothorax is related to pneumothorax and bronchiolitis. An important gene associated with Spontaneous Pneumothorax is FLCN (folliculin), and among its related pathways are IL-10 Pathway and Oxidative Stress. The compounds luminol and biliverdin have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Aliases & Classifications for Spontaneous Pneumothorax

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20GeneTests, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

spontaneous pneumothorax 20 45 62


Related Diseases for 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 Spontaneous Pneumothorax via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1pneumothorax32.3FLCN
2bronchiolitis30.6CCL11
3pneumonia30.5HMOX1, CCL11, ELANE, SERPINA1, LBP
4wegener's granulomatosis30.4SERPINA1, ELANE
5ankylosing spondylitis30.4FBN1, SERPINA1
6myocardial infarction30.3CCL11, HIF1A, LBP
7marfan syndrome30.3FBN1, CD36
8asthma30.2LBP, SERPINA1, ELANE, CCL11
9cystic fibrosis30.2HMOX1, ELANE, SERPINA1, LBP
10respiratory failure30.1ELANE, CCL11
11lung adenocarcinoma30.1HMOX1, SERPINA1, HIF1A
12pulmonary emphysema30.1SERPINA1, ELANE, HMOX1
13primary spontaneous pneumothorax11.2
14pulmonary edema10.6
15lymphangioleiomyomatosis10.5
16langerhans-cell histiocytosis10.4
17silicosis10.4
18histiocytosis10.4
19tuberculosis10.4
20lung cancer10.3
21miliary tuberculosis10.3
22birt-hogg-dube syndrome10.3
23osteosarcoma10.3
24sarcoma10.3
25spondylitis10.3
26catamenial pneumothorax10.3
27blastoma10.2
28bronchiolitis obliterans10.2
29mitral valve prolapse10.2
30horner's syndrome10.2
31tuberous sclerosis10.2
32pleuropulmonary blastoma10.2
33congenital diaphragmatic hernia10.2
34alpha 1-antitrypsin deficiency10.2
35adenocarcinoma10.2
36aspergillosis10.2
37malignant pleural mesothelioma10.2
38pulmonary embolism10.2
39spontaneous pneumothorax familial type10.2
40pulmonary function10.2
41malaria10.1CD36
42arthus reaction10.1ELANE
43acute intermittent porphyria10.1HMOX1, SOD1
44vernal keratoconjunctivitis10.1CD36, CCL11
45pulmonary disease, chronic obstructive10.1HMOX1, SERPINA1
46cerebral malaria10.1CD36, HMOX1
47bronchopulmonary dysplasia10.1SOD1, ELANE
48arteriosclerosis10.0HMOX1, SOD1
49adult respiratory distress syndrome10.0ELANE, LBP
50eye disease10.0CCL11, SERPINA1

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



Diseases related to spontaneous pneumothorax

Symptoms for Spontaneous Pneumothorax

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Drugs & Therapeutics for Spontaneous Pneumothorax

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Spontaneous Pneumothorax

Search NIH Clinical Center for Spontaneous Pneumothorax

Genetic Tests for Spontaneous Pneumothorax

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20GeneTests
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Genetic tests related to Spontaneous Pneumothorax:

id Genetic test Affiliating Genes
1 Spontaneous Pneumothorax20 FLCN

Anatomical Context for Spontaneous Pneumothorax

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33MalaCards
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MalaCards organs/tissues related to Spontaneous Pneumothorax:

33
Lung, Testes, Skin, Thyroid, Liver, Kidney, Colon, Spleen, Bone, Bone marrow

Animal Models for Spontaneous Pneumothorax or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Spontaneous Pneumothorax:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6LBP, HIF1A, SOD1, HMOX1, CD36
2MP:00053678.2FBN1, HIF1A, FLCN, HMOX1, CD36
3MP:00053888.1HMOX1, CCL11, HIF1A, FBLN5, FBN1
4MP:00053797.7FBN1, HIF1A, SOD1, HMOX1, CD36
5MP:00053697.7FBN1, FBLN5, HIF1A, SOD1, HMOX1, CD36
6MP:00053857.5FBN1, FBLN5, HIF1A, SOD1, FLCN, HMOX1
7MP:00053847.4FBN1, FBLN5, HIF1A, SOD1, FLCN, HMOX1
8MP:00107687.2CD36, HMOX1, ELANE, FLCN, SOD1, HIF1A
9MP:00053976.8CD36, LBP, FBN1, HIF1A, SOD1, FLCN
10MP:00053876.8LBP, FBN1, HIF1A, SOD1, FLCN, ELANE
11MP:00053766.7LBP, FBN1, FBLN5, HIF1A, SOD1, FLCN

Publications for Spontaneous Pneumothorax

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52PubMed
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Articles related to Spontaneous Pneumothorax:

(show top 50)    (show all 592)
idTitleAuthorsYear
1
Anesthesia under cardiopulmonary bypass for video assisted thoracoscopic wedge resection in patient with spontaneous pneumothorax and contralateral post-tuberculosis destroyed lung. (24024004)
2013
2
Sensitivity, positive predictive value, and interobserver variability of computed tomography in the diagnosis of bullae associated with spontaneous pneumothorax in dogs: 19 cases (2003-2012). (23822082)
2013
3
Prevalence, clinical manifestations and mortality rate in patients with spontaneous pneumothorax in Thammasat University Hospital. (24350409)
2013
4
Spontaneous pneumothorax with persistent air leakage and invasive procedures. (24088750)
2013
5
The Effect of Thoracoscopic Pleurodesis in Primary Spontaneous Pneumothorax: Apical Parietal Pleurectomy versus Pleural Abrasion. (23130305)
2012
6
Spontaneous pneumothorax and ozone levels: is there a relation? (22958437)
2011
7
Recurrent spontaneous pneumothorax in a patient with Birt-Hogg-DubAc syndrome. (20692178)
2011
8
An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome. (21736094)
2011
9
A rare cause of recurrent spontaneous pneumothorax. (21525091)
2011
10
Efficacy of blood-patch pleurodesis for secondary spontaneous pneumothorax in interstitial lung disease. (21628929)
2011
11
Erlotinib treatment for persistent spontaneous pneumothorax in non-small cell lung cancer: a case report. (22166539)
2010
12
Chemotherapy-related delayed bilateral spontaneous pneumothorax and lung fibrosis: methotrexate or cyclophosphamide, or both? (20931743)
2010
13
Surgery for secondary spontaneous pneumothorax. (20453650)
2010
14
Radiological predictors of recurrent primary spontaneous pneumothorax following non-surgical management. (20673650)
2010
15
Percutaneous aspiration versus tube drainage for spontaneous pneumothorax: systematic review and meta-analysis. (20060735)
2010
16
Decision making in the management of secondary spontaneous pneumothorax in patients with severe emphysema. (19662966)
2009
17
Simultaneous bilateral spontaneous pneumothorax in metastatic testicular cancer. (19140040)
2009
18
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
19
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. (19483054)
2009
20
A case of spontaneous pneumothorax presenting with high-degree atrioventricular block. (19729170)
2009
21
Video-assisted thoracoscopy for spontaneous pneumothorax after pneumonectomy. (18514025)
2009
22
Re-expansion pulmonary edema following treatment of spontaneous pneumothorax during oral surgery. (19462219)
2009
23
Spontaneous pneumothorax as a first sign of pulmonary carcinoma. (19566945)
2009
24
Anesthetic management of thoracotomy for spontaneous pneumothorax in a pregnant woman. (17693074)
2008
25
Thoracoscopic apico-posterior transmediastinal approach for bilateral spontaneous pneumothorax. (18187456)
2008
26
Should surgical pleurectomy for spontaneous pneumothorax be always thoracoscopic? (18407960)
2008
27
Does video-assisted thoracoscopic pleurectomy result in better outcomes than open pleurectomy for primary spontaneous pneumothorax? (18287119)
2008
28
Video-assisted thoracoscopic surgery (VATS) for bilateral primary spontaneous pneumothorax. (18381810)
2008
29
Ipsilateral reexpansion pulmonary edema after drainage of a spontaneous pneumothorax: a case report. (17903268)
2007
30
Use of computed tomography for evaluation of lung lesions associated with spontaneous pneumothorax in dogs: 12 cases (1999-2002). (16506938)
2006
31
Video-assisted thoracoscopic surgery for primary spontaneous pneumothorax: clinicopathological correlation. (16376095)
2006
32
Aetiology and clinical profile of spontaneous pneumothorax in adults. (16970292)
2006
33
Treatment options of spontaneous pneumothorax. (18610677)
2006
34
Thoracoscopic management of spontaneous pneumothorax during pregnancy. (16165137)
2005
35
Does a thoracic epidural confer any additional benefit following video-assisted thoracoscopic pleurectomy for primary spontaneous pneumothorax? (15784372)
2005
36
Physical fitness after apical resection for the treatment of primary spontaneous pneumothorax. (16261980)
2005
37
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. (15805188)
2005
38
Video-assisted thoracic surgery (VATS) for primary spontaneous pneumothorax: how I do it ? (16184724)
2005
39
Primary spontaneous pneumothorax in children: the role of CT in guiding management. (15767109)
2005
40
Familial spontaneous pneumothorax in neonates. (15973032)
2005
41
Evaluating the treatment options for spontaneous pneumothorax. (15311535)
2004
42
Results of thoracoscopic pleural abrasion for primary spontaneous pneumothorax. (14752638)
2004
43
Video-assisted thoracoscopic management of recurrent primary spontaneous pneumothorax after prior talc pleurodesis: a feasible, safe and efficient treatment option. (15519177)
2004
44
Simple aspiration versus chest-tube insertion in the management of primary spontaneous pneumothorax: a systematic review. (15250222)
2004
45
Role of chest CT scan in determining etiology of primary spontaneous pneumothorax. (12866634)
2003
46
Diagnosis of pulmonary lymphangioleiomyomatosis by HMB45 in surgically treated spontaneous pneumothorax. (8620956)
1995
47
Bilateral spontaneous pneumothorax as the presenting feature in lymphangioleiomyomatosis. (7638376)
1995
48
Value of computed tomography of the lung in the management of primary spontaneous pneumothorax. (2063968)
1991
49
Chemical pleurodesis in primary spontaneous pneumothorax. (2763278)
1989
50
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966

Variations for Spontaneous Pneumothorax

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Expression for genes affiliated with Spontaneous Pneumothorax

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spontaneous Pneumothorax

Search GEO for disease gene expression data for Spontaneous Pneumothorax.

Pathways for genes affiliated with Spontaneous Pneumothorax

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50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 12EMD Millipore
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Pathways related to Spontaneous Pneumothorax according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8HMOX1, BLVRA
29.7HMOX1, SOD1
3
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.6HMOX1, FTMT, BLVRA
4
Show member pathways
FOXA transcription factor networks38
9.4SOD1, SERPINA1
59.4CD36, ELANE
69.3SERPINA1, ELANE
7
Show member pathways
9.2FBLN5, FBN1
8
Show member pathways
8.9SERPINA1, SOD1, CD36
9
Show member pathways
8.7FBN1, FBLN5, ELANE

Compounds for genes affiliated with Spontaneous Pneumothorax

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

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1luminol4510.0CCL11, SOD1
2biliverdin45 2411.0HMOX1, BLVRA
3ptio459.9HMOX1, SOD1
43-nitrotyrosine459.9HMOX1, SOD1
5deta nonoate459.8HMOX1, HIF1A
6psgag459.8ELANE, CD36
7trolox459.8HIF1A, SOD1, HMOX1
8s-nitroso-n-acetylpenicillamine459.7HIF1A, SOD1, HMOX1
9gsno459.7HIF1A, SOD1, HMOX1
10rotenone459.7HIF1A, SOD1, HMOX1
11manganese superoxide459.7HIF1A, SOD1, HMOX1
1215-deoxy-delta-12,14-prostaglandin j2459.6CD36, HMOX1, CCL11
13pdtc459.6HMOX1, SOD1, HIF1A
14dihydrolipoic acid45 1110.5SOD1, ELANE
15nitroglycerin45 1110.5ELANE, SOD1, HIF1A
16deferoxamine45 1110.5HIF1A, SOD1, FTMT, HMOX1
17endotoxin459.5LBP, ELANE, FTMT, CCL11
18alpha lipoic acid459.5HMOX1, SOD1, SERPINA1
19peroxynitrite459.4SERPINA1, SOD1, CCL11
20rottlerin459.4ELANE, HMOX1, CD36
21n acetylcysteine459.4HMOX1, CCL11, SOD1, HIF1A
22hocl459.4SERPINA1, SOD1, ELANE
23actinomycin d459.3LBP, HIF1A, CCL11, HMOX1
24sb 20358045 6110.3HIF1A, CCL11, HMOX1, CD36
25sodium nitroprusside459.3HMOX1, ELANE, SOD1, HIF1A
26resveratrol45 61 24 1112.2HMOX1, SOD1, HIF1A
27egcg459.2HIF1A, SOD1, ELANE, HMOX1
28ly294002459.2HIF1A, CCL11, HMOX1, CD36
29adriamycin459.2CD36, SOD1, HIF1A
30alpha tocopherol459.1CD36, HMOX1, ELANE, SOD1
31cyclosporin a45 29 6111.0HIF1A, ELANE, CCL11, HMOX1
32desmosine459.0ELANE, SERPINA1, FBN1
33dexamethasone45 51 29 1111.9LBP, HIF1A, CCL11, HMOX1, CD36
34iron45 249.9HMOX1, FTMT, SOD1, SERPINA1, HIF1A
35nadph45 249.9BLVRA, HIF1A, SERPINA1, SOD1, HMOX1
36pge2458.8HIF1A, ELANE, CCL11, HMOX1, CD36
37vegf458.7FBLN5, HIF1A, CCL11, HMOX1, CD36
38hyaluronic acid45 249.7CD36, CCL11, ELANE, FBN1
39superoxide45 249.6LBP, HIF1A, SOD1, ELANE, CCL11, HMOX1
40lactate458.5HIF1A, SOD1, ELANE, HMOX1
41nitric oxide45 24 1110.5LBP, HIF1A, SERPINA1, SOD1, CCL11, HMOX1
42alanine458.3LBP, FBN1, HIF1A, SOD1, CCL11, HMOX1
43h2o2458.1HIF1A, SERPINA1, SOD1, ELANE, HMOX1, CD36
44retinoic acid45 249.0FBN1, HIF1A, ELANE, CCL11, HMOX1, CD36
45ascorbic acid45 248.8FBN1, HIF1A, SERPINA1, SOD1, HMOX1, CD36
46heparin45 29 24 1110.8LBP, FBN1, SERPINA1, ELANE, CCL11, CD36
47estrogen457.7FBN1, HIF1A, SERPINA1, ELANE, HMOX1, CD36
48serine457.4LBP, BLVRA, FBN1, HIF1A, SERPINA1, ELANE
49cysteine457.3FBN1, HIF1A, SERPINA1, SOD1, ELANE, HMOX1
50oxygen45 247.7HMOX1, LBP, BLVRA, FBN1, HIF1A, SERPINA1

GO Terms for genes affiliated with Spontaneous Pneumothorax

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310128.7SOD1, FBLN5, FBN1
2extracellular vesicular exosomeGO:0700628.3ELANE, SOD1, SERPINA1, BLVRA, LBP
3proteinaceous extracellular matrixGO:0055788.3FBN1, FBLN5, SERPINA1
4extracellular spaceGO:0056157.3HMOX1, LBP, FBN1, FBLN5, SERPINA1, SOD1
5extracellular regionGO:0055767.0LBP, FBN1, FBLN5, SERPINA1, SOD1, ELANE

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1heme catabolic processGO:04216710.2HMOX1, BLVRA
2regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:04361910.1HMOX1, HIF1A
3porphyrin-containing compound metabolic processGO:00677810.0HMOX1, BLVRA
4negative regulation of TOR signalingGO:03200710.0FLCN, HIF1A
5positive regulation of chemokine productionGO:03272210.0HIF1A, LBP
6cellular response to lipoteichoic acidGO:0712239.9CD36, LBP
7muscle cell cellular homeostasisGO:0467169.9HIF1A, SOD1
8low-density lipoprotein particle clearanceGO:0343839.9CD36, HMOX1
9regulation of removal of superoxide radicalsGO:20001219.8FBLN5, CD36
10positive regulation of angiogenesisGO:0457669.7HIF1A, CCL11, HMOX1
11defense response to Gram-positive bacteriumGO:0508309.7CD36, LBP
12positive regulation of tumor necrosis factor productionGO:0327609.7CD36, LBP
13negative regulation of neuron apoptotic processGO:0435249.6HIF1A, SOD1, HMOX1
14positive regulation of smooth muscle cell proliferationGO:0486619.6HMOX1, ELANE
15acute-phase responseGO:0069539.5LBP, SERPINA1
16positive regulation of interleukin-6 productionGO:0327559.5CD36, LBP
17negative regulation of growth of symbiont in hostGO:0441309.5CD36, ELANE, LBP
18cellular iron ion homeostasisGO:0068799.4HMOX1, FTMT, SOD1, HIF1A
19response to hydrogen peroxideGO:0425429.4HMOX1, SOD1
20response to lipopolysaccharideGO:0324969.3LBP, SERPINA1, ELANE
21platelet degranulationGO:0025769.2SERPINA1, SOD1, CD36
22platelet activationGO:0301689.1SERPINA1, SOD1, CD36

Molecular functions related to Spontaneous Pneumothorax according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.4CCL11, ELANE, FLCN, SOD1, SERPINA1, HIF1A

Products for genes affiliated with Spontaneous Pneumothorax

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Sources for 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