PSP
MCID: PRM100
MIFTS: 58

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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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 based summary: Primary Spontaneous Pneumothorax, also known as pneumothorax, primary spontaneous, 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 drug talc and the compounds luminol and biliverdin have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and skin, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Description from OMIM:46 173600

Aliases & Classifications for Primary Spontaneous Pneumothorax

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Sources:
21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Primary Spontaneous Pneumothorax, Aliases & Descriptions:

Name: Primary Spontaneous Pneumothorax 21
Pneumothorax, Primary Spontaneous 46 62
Spontaneous Pneumothorax 21 62
 
Pneumothorax 21 62
Familial Spontaneous Pneumothorax 48
Psp 21


Classifications:

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


External Ids:

OMIM46 173600
ICD10 via Orphanet26 J93.1

Related Diseases for Primary Spontaneous Pneumothorax

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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 224)
idRelated DiseaseScoreTop Affiliating Genes
1spontaneous pneumothorax32.7FLCN
2pneumothorax32.7FLCN
3birt-hogg-dube syndrome31.1FLCN
4bronchiolitis31.0CCL11
5pneumonia30.6LBP, CCL11, HMOX1
6leiomyoma30.0FLCN, CCL11
7myocardial infarction30.0HIF1A, LBP, CCL11
8progressive supranuclear palsy10.8
9spontaneous tension pneumothorax10.5
10lymphangioleiomyomatosis10.5
11tuberculosis10.5
12miliary tuberculosis10.4
13interstitial emphysema10.3
14progressive supranuclear palsy atypical10.3
15silicosis10.3
16mitral valve prolapse10.3
17blastoma10.3
18tuberculous pneumothorax10.3
19histiocytosis10.3
20sarcoma10.3
21langerhans-cell histiocytosis10.3
22mediastinitis10.3
23bronchiolitis obliterans10.2
24pleuropulmonary blastoma10.2
25bronchopneumonia10.2
26horner's syndrome10.2
27corticobasal degeneration10.2
28hemopneumothorax10.2
29marfan syndrome10.2
30aspergillosis10.2
31eosinophilia10.2
32lung cancer10.2
33pulmonary edema10.2
34cholecystitis10.2
35endometriosis10.2
36respiratory failure10.2
37catamenial pneumothorax10.2
38paresthesia10.2
39pulmonary function10.2
40duodenal ulcer10.1
41duodenitis10.1
42adenocarcinoma10.1
43interstitial lung disease10.1
44sarcoidosis10.1
45bronchogenic cyst10.1
46root resorption10.1
47frontotemporal dementia10.1
48pancreatitis10.1
49progressive supranuclear palsy - progressive non fluent aphasia10.1
50progressive supranuclear palsy - corticobasal syndrome10.1

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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Symptoms by clinical synopsis from OMIM:

173600

Clinical features from OMIM:

173600

Symptoms:

48
  • structural anomalies of the respiratory system and diaphragm
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • autosomal dominant inheritance

HPO human phenotypes related to Primary Spontaneous Pneumothorax:

id Description Frequency HPO Source Accession
1 abnormality of the pleura hallmark (90%) HP:0002103
2 autosomal dominant inheritance HP:0000006
3 pneumothorax HP:0002107
4 incomplete penetrance HP:0003829

Drugs & Therapeutics for Primary Spontaneous Pneumothorax

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Drug clinical trials:

Search ClinicalTrials for Primary Spontaneous Pneumothorax

Search NIH Clinical Center for Primary Spontaneous Pneumothorax

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Primary Spontaneous Pneumothorax

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Anatomical Context for Primary Spontaneous Pneumothorax

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MalaCards organs/tissues related to Primary Spontaneous Pneumothorax:

32
Lung, Colon, Skin, Testes

Animal Models for Primary Spontaneous Pneumothorax or affiliated genes

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MGI Mouse Phenotypes related to Primary Spontaneous Pneumothorax:

36
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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Articles related to Primary Spontaneous Pneumothorax:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Detection of blebs and bullae in patients with primary spontaneous pneumothorax by multi-detector CT reconstruction using different slice thicknesses. (25196152)
2014
2
Video-assisted thoracoscopic surgery for postoperative recurrent primary spontaneous pneumothorax. (24455176)
2014
3
Vascular-penetration defect detected in parietal pleura of primary spontaneous pneumothorax. (25015539)
2014
4
Ambulatory management of primary spontaneous pneumothorax: the good is (not always) the enemy of the better (evidence). (24488990)
2014
5
Role of computed tomographic scanning prior to thoracoscopic surgery for primary spontaneous pneumothorax. (24709294)
2014
6
Ambulatory management of large primary spontaneous pneumothorax. (24687678)
2014
7
Chemical pleurodesis for prolonged postoperative air leak in primary spontaneous pneumothorax. (24746114)
2014
8
Innate type 2 immunity is associated with eosinophilic pleural effusion in primary spontaneous pneumothorax. (23815597)
2013
9
Management of primary spontaneous pneumothorax: an audit into practice. (23472395)
2013
10
What Factors Predict Recurrence after an Initial Episode of Primary Spontaneous Pneumothorax in Children? (24284502)
2013
11
A case of primary spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema following cough. (23875597)
2013
12
The Effect of Thoracoscopic Pleurodesis in Primary Spontaneous Pneumothorax: Apical Parietal Pleurectomy versus Pleural Abrasion. (23130305)
2012
13
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax. (22446046)
2012
14
Climatic conditions and the onset of primary spontaneous pneumothorax: an investigation of the influence of solar terms. (22377483)
2012
15
Pleural abrasion for mechanical pleurodesis in surgery for primary spontaneous pneumothorax: is it effective? (22318062)
2012
16
Radiological predictors of recurrent primary spontaneous pneumothorax following non-surgical management. (20673650)
2010
17
Video-assisted thoracoscopic surgery using single-lumen endotracheal tube anaesthesia in primary spontaneous pneumothorax. (20653920)
2010
18
Pleural granuloma mimicking malignancy 42 years after slurry talc injection for primary spontaneous pneumothorax. (20523052)
2010
19
Air pollution, weather variations and primary spontaneous pneumothorax. (22263010)
2010
20
Evidence-based emergency medicine/systematic review abstract: Simple aspiration compared to chest tube insertion in the management of primary spontaneous pneumothorax. (19013686)
2009
21
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
22
Does video-assisted thoracoscopic pleurectomy result in better outcomes than open pleurectomy for primary spontaneous pneumothorax? (18287119)
2008
23
Video-assisted thoracoscopic surgery (VATS) for bilateral primary spontaneous pneumothorax. (18381810)
2008
24
Comparison of size classification of primary spontaneous pneumothorax by three international guidelines: a case for international consensus? (18789858)
2008
25
Deviation from published guidelines in the management of primary spontaneous pneumothorax in Australia. (18190419)
2008
26
Video-assisted thoracic surgery for primary spontaneous pneumothorax in children: is there an optimal technique? (19040924)
2008
27
Thoracoscopic total parietal pleurectomy for primary spontaneous pneumothorax. (18442607)
2008
28
Haemothorax after pig-tail catheter removal in a patient with primary spontaneous pneumothorax. (17351211)
2007
29
Video-assisted thoracoscopic surgery for primary spontaneous pneumothorax: clinicopathological correlation. (16376095)
2006
30
Prevalence of mitral valve prolapse in primary spontaneous pneumothorax. (17064962)
2006
31
Does a thoracic epidural confer any additional benefit following video-assisted thoracoscopic pleurectomy for primary spontaneous pneumothorax? (15784372)
2005
32
Physical fitness after apical resection for the treatment of primary spontaneous pneumothorax. (16261980)
2005
33
Video-assisted thoracic surgery (VATS) for primary spontaneous pneumothorax: how I do it ? (16184724)
2005
34
Primary spontaneous pneumothorax in children: the role of CT in guiding management. (15767109)
2005
35
Aluminium and primary spontaneous pneumothorax. A suggestive but unconfirmed hypothesis. (17670347)
2005
36
Results of thoracoscopic pleural abrasion for primary spontaneous pneumothorax. (14752638)
2004
37
Video-assisted thoracoscopic management of recurrent primary spontaneous pneumothorax after prior talc pleurodesis: a feasible, safe and efficient treatment option. (15519177)
2004
38
Simple aspiration versus chest-tube insertion in the management of primary spontaneous pneumothorax: a systematic review. (15250222)
2004
39
Lung wedge resection improves outcome in stage I primary spontaneous pneumothorax. (15111189)
2004
40
Characterisation of pleural inflammation occurring after primary spontaneous pneumothorax. (15219004)
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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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

Clinvar genetic disease variations for Primary Spontaneous Pneumothorax:

6
id Gene Name Type Significance SNP ID Assembly Location
1FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119708: 17119709
2FLCNFLCN, 4-BP DEL, 235TCGGdeletionPathogenic
3FLCNFLCN, 4-BP DEL, 1533GATGdeletionPathogenic
4FLCNFLCN, 1-BP DEL, 404CdeletionPathogenic
5FLCNFLCN, 3-BP DEL, 469TTCdeletionPathogenic
6FLCNFLCN, 20-BP DEL, NT1156deletionPathogenic
7FLCNFLCN, EX9-14 DELdeletionPathogenic

Expression for genes affiliated with Primary Spontaneous Pneumothorax

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FTMT, HMOX1
29.4BLVRA, HMOX1
39.3HIF1A, FLCN
49.3SOD1, HMOX1
59.1HIF1A, SOD1
6
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
9.1HMOX1, FTMT, BLVRA
79.0HMOX1, HIF1A
89.0HIF1A, HMOX1

Compounds for genes affiliated with Primary Spontaneous Pneumothorax

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

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1luminol449.9SOD1, CCL11
2biliverdin44 2410.8HMOX1, BLVRA
3Bilirubin249.8HMOX1, BLVRA
4haem449.7HMOX1, BLVRA
5ptio449.7SOD1, HMOX1
63-nitrotyrosine449.7HMOX1, SOD1
7sodium azide449.7HMOX1, SOD1
8fenton449.7SOD1, HMOX1
9ebselen449.7HMOX1, SOD1
10vitamin e50 1110.7HMOX1, SOD1
11allopurinol44 50 1111.6HMOX1, SOD1
128-isoprostane449.6HMOX1, SOD1
13sodium arsenite449.5SOD1, HMOX1
14endotoxin449.5LBP, FTMT, CCL11
15deta nonoate449.4HMOX1, HIF1A
16alpha lipoic acid449.4HMOX1, SOD1
17cobalt chloride449.4HMOX1, HIF1A
186-hydroxydopamine449.3SOD1, HMOX1
19nitroglycerin44 1110.2HIF1A, SOD1
20ns 39844 6110.2HIF1A, HMOX1
21nadh44 24 1111.2BLVRA, SOD1, HMOX1
22indomethacin44 28 61 1112.2HMOX1, CCL11, SOD1
23l-nmma449.0SOD1, HIF1A
24trolox449.0HMOX1, SOD1, HIF1A
25gsno449.0HMOX1, SOD1, HIF1A
26s-nitroso-n-acetylpenicillamine448.9HMOX1, SOD1, HIF1A
27rotenone448.9HIF1A, SOD1, HMOX1
28manganese superoxide448.9HIF1A, SOD1, HMOX1
29pdtc448.9HMOX1, SOD1, HIF1A
30sodium nitroprusside448.9HMOX1, SOD1, HIF1A
31resveratrol44 61 24 1111.9HIF1A, SOD1, HMOX1
32egcg448.9HIF1A, SOD1, HMOX1
33quercetin44 61 24 1111.9HMOX1, SOD1, HIF1A
34arsenite44 249.9HMOX1, SOD1, HIF1A
35sb 20358044 619.8HMOX1, CCL11, HIF1A
36diphenyleneiodonium448.8SOD1, HIF1A
37histamine44 28 2410.8HMOX1, CCL11, HIF1A
38ascorbic acid44 249.8HIF1A, SOD1, HMOX1
39ly294002448.7HMOX1, CCL11, HIF1A
40deferoxamine44 119.6HIF1A, SOD1, FTMT, HMOX1
41cyclosporin a44 28 6110.6HMOX1, CCL11, HIF1A
42iron44 249.5HIF1A, SOD1, FTMT, HMOX1
43nadph44 249.5HMOX1, SOD1, HIF1A, BLVRA
44n acetylcysteine448.5HMOX1, CCL11, SOD1, HIF1A
45actinomycin d448.5HMOX1, CCL11, HIF1A, LBP
46dexamethasone44 50 28 1111.4LBP, HIF1A, CCL11, HMOX1
47superoxide44 249.0LBP, HIF1A, SOD1, CCL11, HMOX1
48nitric oxide44 24 1110.0LBP, HIF1A, SOD1, CCL11, HMOX1
49alanine448.0HMOX1, CCL11, SOD1, HIF1A, LBP
50oxygen44 248.2HMOX1, CCL11, FTMT, SOD1, HIF1A, BLVRA

GO Terms for genes affiliated with Primary Spontaneous Pneumothorax

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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:0421679.7HMOX1, BLVRA
2porphyrin-containing compound metabolic processGO:0067789.6BLVRA, HMOX1
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:0467169.3HIF1A, SOD1
8regulation of blood pressureGO:0082179.2SOD1, HMOX1
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, HIF1A, SOD1
13cellular iron ion homeostasisGO:0068798.4FTMT, HMOX1, HIF1A, SOD1

Products for genes affiliated with Primary Spontaneous Pneumothorax

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Sources for Primary Spontaneous Pneumothorax

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet