PSP
MCID: PRM100
MIFTS: 46

Primary Spontaneous Pneumothorax (PSP) malady

Respiratory diseases, Genetic diseases categories

Summaries for Primary Spontaneous Pneumothorax

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 pneumothorax and pneumonia, 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:46 173600

Aliases & Classifications for Primary Spontaneous Pneumothorax

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21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

primary spontaneous pneumothorax 21
familial spontaneous pneumothorax 48
pneumothorax, primary spontaneous 46
spontaneous pneumothorax 21
pneumothorax 21
psp 21


External Ids:

OMIM46 173600
ICD10 via Orphanet26 J93.1

Related Diseases for Primary Spontaneous Pneumothorax

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Sources:
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
1pneumothorax31.9FLCN
2pneumonia30.5CCL11, HMOX1, LBP
3spontaneous pneumothorax30.1FLCN
4pulmonary fibrosis30.1HMOX1, SOD1
5sarcoidosis30.0CCL11
6asthma30.0CCL11, LBP
7myocardial infarction30.0LBP, CCL11, HIF1A
8cystic fibrosis29.9LBP, HMOX1
9arthritis29.7LBP
10rheumatoid arthritis29.7LBP, CCL11
11leiomyoma29.7CCL11, FLCN
12leukemia29.6HMOX1, CCL11
13progressive supranuclear palsy10.7
14endometriosis10.5
15lymphangioleiomyomatosis10.4
16tuberculosis10.4
17interstitial emphysema10.4
18tuberculous pneumothorax10.4
19pulmonary emphysema10.3
20miliary tuberculosis10.3
21mitral valve prolapse10.3
22blastoma10.2
23silicosis10.2
24histiocytosis10.2
25progressive supranuclear palsy atypical10.2
26bronchiolitis10.2
27langerhans-cell histiocytosis10.2
28sarcoma10.2
29bronchiolitis obliterans10.2
30pleuropulmonary blastoma10.2
31birt-hogg-dube syndrome10.2
32bronchopneumonia10.2
33horner's syndrome10.2
34lung cancer10.2
35mediastinitis10.2
36marfan syndrome10.1
37hemopneumothorax10.1
38aspergillosis10.1
39eosinophilia10.1
40spontaneous tension pneumothorax10.1
41pulmonary edema10.1
42cholecystitis10.1
43respiratory failure10.1
44adenocarcinoma10.1
45interstitial lung disease10.1
46pulmonary embolism10.1
47catamenial pneumothorax10.1
48root resorption10.1
49frontotemporal dementia10.1
50pancreatitis10.1

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



Diseases related to primary spontaneous pneumothorax

Clinical Features for Primary Spontaneous Pneumothorax

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

173600

Clinical synopsis from OMIM:

173600

Symptoms:

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

Drugs & Therapeutics for Primary Spontaneous Pneumothorax

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Primary Spontaneous Pneumothorax

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32MalaCards
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MalaCards organs/tissues related to Primary Spontaneous Pneumothorax:

32
Skin, Lung, Colon

Animal Models for Primary Spontaneous Pneumothorax or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Spontaneous Pneumothorax:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0SOD1, LBP, HIF1A, HMOX1
2MP:00053978.0HMOX1, HIF1A, FLCN, SOD1, CCL11
3MP:00053877.4HMOX1, HIF1A, FLCN, LBP, SOD1, CCL11

Publications for Primary Spontaneous Pneumothorax

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Genetic Variations for Primary Spontaneous Pneumothorax

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Primary Spontaneous Pneumothorax:

62
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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1BioGPS, 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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Sources:
12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 51QIAGEN
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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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Primary Spontaneous Pneumothorax according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1nadph44 2411.3BLVRA
2rotenone4410.1HMOX1
3luminol4410.1SOD1, CCL11
4superoxide44 2410.7LBP, HMOX1
5nitroglycerin44 1110.6HIF1A, SOD1
6ptio449.6SOD1, HMOX1
73-nitrotyrosine449.6SOD1, HMOX1
8sodium azide449.6SOD1, HMOX1
9fenton449.5HMOX1, SOD1
10ebselen449.5HMOX1, SOD1
11endotoxin449.5FTMT, LBP, CCL11
12Vitamin E119.5HMOX1, SOD1
13deta nonoate449.5HMOX1, HIF1A
14diphenyleneiodonium449.5HIF1A, SOD1
15allopurinol44 49 1111.5HMOX1, SOD1
16cobalt chloride449.5HMOX1, HIF1A
178-isoprostane449.4HMOX1, SOD1
18biliverdin44 2410.4HMOX1, BLVRA
19sodium arsenite449.4HMOX1, SOD1
20haem449.3HMOX1, BLVRA
21ns 39844 5910.3HMOX1, HIF1A
22alpha lipoic acid449.2SOD1, HMOX1
23l-nmma449.2HIF1A, SOD1
24trolox449.1HMOX1, HIF1A, SOD1
25s-nitroso-n-acetylpenicillamine449.1SOD1, HIF1A, HMOX1
26gsno449.1SOD1, HIF1A, HMOX1
27indomethacin44 59 28 1112.1CCL11, SOD1, HMOX1
28manganese superoxide449.1SOD1, HIF1A, HMOX1
296-hydroxydopamine449.1HMOX1, SOD1
30pdtc449.1SOD1, HIF1A, HMOX1
31sodium nitroprusside449.1HMOX1, HIF1A, SOD1
32resveratrol44 59 11 2412.1SOD1, HIF1A, HMOX1
33egcg449.0HMOX1, HIF1A, SOD1
34quercetin44 59 11 2412.0HMOX1, HIF1A, SOD1
35arsenite44 2410.0SOD1, HIF1A, HMOX1
36sb 20358044 5910.0HMOX1, HIF1A, CCL11
37ascorbic acid44 2410.0HMOX1, HIF1A, SOD1
38histamine44 28 2410.9CCL11, HIF1A, HMOX1
39ly294002448.8HMOX1, HIF1A, CCL11
40nadh44 11 2410.8SOD1, BLVRA, HMOX1
41actinomycin d448.8HMOX1, HIF1A, LBP, CCL11
42n acetylcysteine448.7CCL11, SOD1, HIF1A, HMOX1
43dexamethasone44 49 28 1111.7CCL11, LBP, HIF1A, HMOX1
44deferoxamine44 119.6SOD1, HIF1A, FTMT, HMOX1
45iron44 249.6HMOX1, FTMT, HIF1A, SOD1
46nitric oxide44 11 2410.3HMOX1, HIF1A, LBP, SOD1, CCL11
47alanine448.3HMOX1, HIF1A, LBP, SOD1, CCL11
48oxygen44 249.2HMOX1, FTMT, BLVRA, LBP, CCL11

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, 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet