PSP
MCID: PNM010
MIFTS: 55

Pneumothorax, Primary Spontaneous (PSP)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pneumothorax, Primary Spontaneous

MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 58 30 13 6 41 74
Spontaneous Pneumothorax 54 26 30 56 6 74
Primary Spontaneous Pneumothorax 12 54 26 76 15
Psp 58 26 76
Familial Spontaneous Pneumothorax 54 60
Pneumothorax 26 74

Characteristics:

Orphanet epidemiological data:

60
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
majority of cases are sporadic, often in tall, thin men
allelic to birt-hogg-dube syndrome
bullae are located randomly in familial cases and apical in sporadic cases


HPO:

33
pneumothorax, primary spontaneous:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0080218
OMIM 58 173600
ICD10 via Orphanet 35 J93.1
Orphanet 60 ORPHA2903
MedGen 43 C1868193
SNOMED-CT via HPO 70 263681008 36118008 80423007

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 54 Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.

MalaCards based summary : Pneumothorax, Primary Spontaneous, also known as spontaneous pneumothorax, is related to birt-hogg-dube syndrome and pleural disease, and has symptoms including dyspnea and hemoptysis. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drugs tannic acid and Propofol have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and colon, and related phenotypes are abnormality of the pleura and pneumothorax

Genetics Home Reference : 26 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.

OMIM : 58 Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). (173600)

UniProtKB/Swiss-Prot : 76 Primary spontaneous pneumothorax: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested.

Related Diseases for Pneumothorax, Primary Spontaneous

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

(show top 50) (show all 381)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 32.5 FLCN FNIP1
2 pleural disease 32.2 FLCN FNIP1
3 pneumothorax 30.2 BLVRA FLCN FNIP1
4 aortic aneurysm 28.8 FBLN5 TGFBR1
5 supranuclear palsy, progressive, 1 12.4
6 tuberculous pneumothorax 12.4
7 pulmonary bullae causing pneumothorax 12.1
8 parkinson-dementia syndrome 11.9
9 hemopneumothorax 11.5
10 corticobasal degeneration 11.4
11 hereditary multiple osteochondromas 11.4
12 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.2
13 progressive supranuclear palsy-corticobasal syndrome 11.2
14 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.2
15 perry syndrome 11.1
16 classic progressive supranuclear palsy syndrome 11.0
17 pneumonia 10.5
18 sarcoma 10.4
19 lymphangioleiomyomatosis 10.3
20 histiocytosis 10.3
21 langerhans cell histiocytosis 10.3
22 pulmonary tuberculosis 10.3
23 cystic fibrosis 10.2
24 pneumocystosis 10.2
25 pancreatitis 10.2
26 charles bonnet syndrome 10.2
27 pleurisy 10.2
28 miliary tuberculosis 10.2
29 silicosis 10.1
30 pleural empyema 10.1
31 asthma 10.1
32 aspergillosis 10.1
33 pulmonary fibrosis 10.1
34 horner's syndrome 10.1
35 dementia 10.1
36 dementia - subcortical 10.1
37 pulmonary disease, chronic obstructive 10.1
38 angiosarcoma 10.1
39 interstitial emphysema 10.1
40 diaphragmatic hernia, congenital 10.1
41 cardiac arrest 10.1
42 bronchiolitis 10.1
43 acquired immunodeficiency syndrome 10.1
44 sarcoma, synovial 10.1
45 ehlers-danlos syndrome 10.1
46 pulmonary embolism 10.1
47 kidney angiomyolipoma 10.1 FLCN FNIP1
48 myocardial infarction 10.0
49 bronchiolitis obliterans 10.0
50 lymphoma 10.0

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



Diseases related to Pneumothorax, Primary Spontaneous

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

Human phenotypes related to Pneumothorax, Primary Spontaneous:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pleura 60 33 hallmark (90%) Very frequent (99-80%) HP:0002103
2 pneumothorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0002107
3 spontaneous pneumothorax 33 HP:0002108
4 abnormality of the respiratory system 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
pneumothorax
subpleural blebs
bullae

Clinical features from OMIM:

173600

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea, hemoptysis

GenomeRNAi Phenotypes related to Pneumothorax, Primary Spontaneous according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 8.8 FBLN5 SRI TGFBR1

MGI Mouse Phenotypes related to Pneumothorax, Primary Spontaneous:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 FBLN5 FLCN FNIP1 HPSE TGFBR1
2 cellular MP:0005384 9.63 BLVRA FBLN5 FLCN FNIP1 HPSE TGFBR1
3 homeostasis/metabolism MP:0005376 9.43 BLVRA FBLN5 FLCN FNIP1 SRI TGFBR1
4 neoplasm MP:0002006 8.92 FBLN5 FLCN FNIP1 TGFBR1

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

Drugs for Pneumothorax, Primary Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4,Not Applicable 1401-55-4
2
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
3
Benzocaine Approved, Investigational Phase 4,Not Applicable 94-09-7, 1994-09-7 2337
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
10 Peripheral Nervous System Agents Phase 4,Not Applicable
11 Anesthetics, Intravenous Phase 4,Not Applicable
12 Central Nervous System Depressants Phase 4,Not Applicable
13 Analgesics Phase 4,Not Applicable
14 Anesthetics, General Phase 4,Not Applicable
15 Hypnotics and Sedatives Phase 4,Not Applicable
16 Analgesics, Non-Narcotic Phase 4,Not Applicable
17 Pharmaceutical Solutions Phase 4,Not Applicable
18 Antipyretics Phase 4
19 Narcotics Phase 4
20 Analgesics, Opioid Phase 4
21
Minocycline Approved, Investigational Phase 3,Phase 2,Not Applicable 10118-90-8 5281021
22 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
23 Anti-Bacterial Agents Phase 3,Phase 2,Not Applicable
24 Insulin, Globin Zinc Phase 2
25 insulin Phase 2
26
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
27
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
28
Ketamine Approved, Vet_approved Not Applicable 6740-88-1 3821
29
Rocuronium Approved Not Applicable 119302-91-9, 143558-00-3 441290
30
Dexmedetomidine Approved, Vet_approved Not Applicable 113775-47-6 68602 5311068
31
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
32 Anti-Arrhythmia Agents Not Applicable
33 Sodium Channel Blockers Not Applicable
34 Diuretics, Potassium Sparing Not Applicable
35 Anesthetics, Local Not Applicable
36 Adrenergic alpha-2 Receptor Agonists Not Applicable
37 Platelet Aggregation Inhibitors Not Applicable
38 Neurotransmitter Agents Not Applicable
39 Excitatory Amino Acid Antagonists Not Applicable
40 Adrenergic alpha-Agonists Not Applicable
41 Neuromuscular Agents Not Applicable
42 Adrenergic Agonists Not Applicable
43 Anesthetics, Dissociative Not Applicable
44 Adrenergic Agents Not Applicable
45 Neuromuscular Nondepolarizing Agents Not Applicable
46 Excitatory Amino Acids Not Applicable
47 Neuromuscular Blocking Agents Not Applicable
48 Anesthetics, Inhalation Not Applicable

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Controlled-Release Oxycodone For Postoperative Analgesia After Video-Assisted Thoracic Surgery Terminated NCT00681174 Phase 4 Morphine;oxycodone;Propofol;Remifentanil;Paracetamol;Morphine
3 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax Unknown status NCT00418392 Phase 3
4 Additional Minocycline Pleurodesis After Thoracoscopic Procedures for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
5 Pleural Abrasion Plus Minocycline Versus Apical Pleurectomy for Primary Spontaneous Pneumothorax Unknown status NCT00270751 Phase 2, Phase 3
6 Chest Tube Drainage or Thoracoscopic Surgery for Failed Aspiration of Spontaneous Pneumothorax Unknown status NCT00713362 Phase 2, Phase 3
7 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Unknown status NCT01848860 Phase 2, Phase 3
8 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
9 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
10 Techniques for Lung Deflation With Arndt® Blocker Completed NCT02030795 Phase 2
11 PRP in 2ry Spontaneous Pneumothorax Recruiting NCT03830645 Phase 1, Phase 2
12 Prevalence of Spontaneous Pneumothorax in BHD Unknown status NCT02916992 Phase 1
13 Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
14 Comparison of Exsufflation Versus Drainage in Primary Spontaneous Pneumothorax Unknown status NCT01008228 Not Applicable
15 Intrapleural Minocycline After Aspiration of Spontaneous Pneumothorax Unknown status NCT00839553 Not Applicable
16 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664 Not Applicable
17 Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome Unknown status NCT03040115
18 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Unknown status NCT03052101
19 A Prospective Randomised Study of Efficacy, Safety and Costs of Talc Pleurodesis Under Medical Thoracoscopy and Pleurodesis Under Video-assisted Thoracoscopy Surgery for Recurrent Primary Spontaneous Pneumothorax Completed NCT00767962 Not Applicable
20 Effect of Tetracycline Pleurodesis on Prevention of Primary Spontaneous Pneumothorax Recurrence Completed NCT03634605 Not Applicable Tetracycline Topical Ointment;Normal saline;Lidocaine 2% Injectable Solution
21 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
22 Comparative Study of Nonintubated Anesthesia Versus Intubated General Anesthesia in Single Port Thoracoscopic Bullectomy Completed NCT02109510 Not Applicable nonintubated sedation anesthesia with dexmedetomidine IV, ketamine IV and intercostal nerve block with lidocaine infiltration;intubated general anesthesia with propofol IV, rocuronium IV ,sevoflurane and N2O gas
23 Environmental Factor and Onset of Spontaneous Pneumothorax Completed NCT03557320
24 Video-assisted Thoracic Surgery (VATS) Versus Axillary Mini-thoracotomy for the Treatment of Recurrent Spontaneous Pneumothorax Completed NCT01192217 Not Applicable
25 Post-lobectomy Use of Glucose for Pleurodesis and Air-leak Cessation. A Feasibility Trial. Completed NCT02376218 Not Applicable Hypertonic 50% dextrose pleurodesis
26 Immune Response in Lung Cancer Completed NCT01955343
27 Study Designed to Optimize the Treatment of Primary Pneumothorax Recruiting NCT02866305 Early Phase 1 Epidural
28 Comparing Efficacy of Chest Tube Drainage and Needle Aspiration in Pneumothorax Treatment Recruiting NCT03293199 Not Applicable
29 Primary Versus Delayed Surgical Therapy for Pediatric Spontaneous Pneumothorax Recruiting NCT02449980 Not Applicable
30 Wedge Resection or Parietal Pleurectomy for the Treatment of Recurrent Pneumothorax (WOPP) Recruiting NCT01855464 Not Applicable
31 Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer Recruiting NCT00033137
32 Spontaneous Pneumothorax in Children Active, not recruiting NCT02573285 Not Applicable
33 Surgical Management of Primary Spontaneous Pneumothorax Not yet recruiting NCT03804385 Not Applicable
34 Outpatient Management of Primary Spontaneous Pneumothorax: Pigtail Catheter With Unidirectional Valve vs. Exsufflation, Randomized Prospective Study Not yet recruiting NCT03691480 Not Applicable
35 PCL (Poly-ε-caprolactone) Mesh Pleurodesis Not yet recruiting NCT03227978 Early Phase 1
36 Chronic Pain After Video-assisted Thoracoscopic Surgery (VATS) Surgery for Pneumothorax Terminated NCT00969423 Not Applicable

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

# Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous 30 FLCN
2 Spontaneous Pneumothorax 30

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

42
Lung, Skin, Colon, Kidney, Bone, Liver, Testes

Publications for Pneumothorax, Primary Spontaneous

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 2028)
# Title Authors Year
1
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. ( 30793832 )
2019
2
Idiopathic pleuroparenchymal fibroelastosis presenting as bilateral spontaneous pneumothorax: A case report. ( 30604712 )
2019
3
Surgical Treatment of Spontaneous Pneumothorax: Pleural Abrasion or Pleurectomy? ( 30499890 )
2019
4
Spontaneous pneumothorax resulting in tension physiology. ( 30509377 )
2019
5
Manual aspiration versus chest tube drainage in primary spontaneous pneumothorax without underlying lung diseases: a meta-analysis of randomized controlled trials. ( 30608581 )
2019
6
New insights and improved strategies for the management of primary spontaneous pneumothorax. ( 30615303 )
2019
7
How spontaneous pneumothorax is managed in emergency departments: a French multicentre descriptive study. ( 30634911 )
2019
8
Pneumocystis jirovecii-related spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema in a liver transplant recipient: a case report. ( 30658592 )
2019
9
Neo-generation of neogenetic bullae after surgery for spontaneous pneumothorax in young adults: a prospective study. ( 30674336 )
2019
10
Spontaneous Pneumothorax in a Young Woman. ( 30710545 )
2019
11
Applying Fibrin Glue under Pleurography for Intractable Secondary Spontaneous Pneumothorax. ( 30727011 )
2019
12
Spontaneous pneumothorax in the elderly: a sign of a malignancy? ( 30754986 )
2019
13
Early chest tube removal after surgery for primary spontaneous pneumothorax. ( 30798488 )
2019
14
Simultaneous Bilateral Primary Spontaneous Pneumothorax: A Case Report and a Review of the Literature. ( 30809412 )
2019
15
Risk Factors of Extensive Subcutaneous Emphysema after Closed-Tube Thoracostomy for Spontaneous Pneumothorax. ( 30819308 )
2019
16
Letter regarding: Clinical and pathological characteristics of spontaneous pneumothorax in women: a 25-year single-institutional experience [2018;66,9:516-522]. ( 30830590 )
2019
17
A randomized study on the effect of sequential acupoint stimulation on pulmonary function of patients with spontaneous pneumothorax during VATS perioperative period. ( 30855442 )
2019
18
The influence of pleurodesis on the outcome of primary spontaneous pneumothorax in children. ( 30865105 )
2019
19
How should complete lung collapse secondary to primary spontaneous pneumothorax be managed? . ( 30872304 )
2019
20
Spontaneous pneumothorax in cocaine users. ( 30895319 )
2019
21
Fixation of lung apex in spontaneous pneumothorax is safe and efficient in decrease recurrences. ( 29779908 )
2019
22
Risk of Primary Spontaneous Pneumothorax According to Chest Configuration. ( 29351696 )
2018
23
Spontaneous pneumothorax: Diagnosis may be a click away. ( 29248325 )
2018
24
Thoracoscopic Blebectomy and Pleurodesis for Primary Spontaneous Pneumothorax. ( 29450816 )
2018
25
Recurrent spontaneous pneumothorax in pregnancy - a case report and review of literature. ( 29915647 )
2018
26
Clinical features of secondary spontaneous pneumothorax complicated with silicosis. ( 29548652 )
2018
27
Birt-Hogg-DubAc syndrome: spontaneous pneumothorax as a first symptom. ( 29321196 )
2018
28
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
29
Influence of meteorological factors on the onset of primary spontaneous pneumothorax. ( 29968506 )
2018
30
Chemical pleurodesis with autologous blood and freeze-dried concentrated human thrombin improved spontaneous pneumothorax and thoracic endometriosis: The first case involving a pregnant woman. ( 29880183 )
2018
31
Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report. ( 29487252 )
2018
32
Management of primary spontaneous pneumothorax: a review. ( 29974615 )
2018
33
Atmospheric temperature and pressure influence the onset of spontaneous pneumothorax. ( 27666936 )
2018
34
Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax? ( 29411175 )
2018
35
A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. ( 30083407 )
2018
36
Pleural coccidioidomycosis presenting as spontaneous pneumothorax. ( 30061139 )
2018
37
Simultaneous Bilateral Spontaneous Pneumothorax in an Adult Patient With Pulmonary Langerhans Cell Histiocytosis: A Case Report. ( 30094268 )
2018
38
Primary spontaneous pneumothorax in conjunction with Marfan syndrome. ( 29487097 )
2018
39
Comparison of additional minocycline versus iodopovidone pleurodesis during video-assisted thoracoscopic bleb resection for primary spontaneous pneumothorax: a propensity score-matched analysis. ( 30416793 )
2018
40
Consider Conservative Approach Rather Than Intervening in Moderate to Large Spontaneous Pneumothorax. ( 30454799 )
2018
41
Improving the management of spontaneous pneumothorax. ( 30523206 )
2018
42
Improving the management of spontaneous pneumothorax. ( 30523207 )
2018
43
Natural history of bulla neogenesis for primary spontaneous pneumothorax: a propensity score analysis. ( 30523543 )
2018
44
Randomized controlled trial on the comparison of chest tube drainage and needle aspiration in the treatment of primary spontaneous pneumothorax. ( 30559787 )
2018
45
Elective surgery treatment in patient living in rural area with history of recurrent primary spontaneous pneumothorax: A procedure to avoid in absence of pneumothorax. A case report. ( 30567075 )
2018
46
Current Practice in the Management of Spontaneous Pneumothorax in Children. ( 30592692 )
2018
47
Management of Primary Spontaneous Pneumothorax: A Single-center Experience. ( 30787829 )
2018
48
Air Travel-Related Spontaneous Pneumothorax in Diffuse Cystic Lung Diseases. ( 30859057 )
2018
49
Effect of cannabis and tobacco on emphysema in patients with spontaneous pneumothorax. ( 29571700 )
2018
50
Pleural Coating by 50% Glucose Solution Reduces Postoperative Recurrence of Spontaneous Pneumothorax. ( 29577928 )
2018

Variations for Pneumothorax, Primary Spontaneous

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

76
# Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
2 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh38 Chromosome 17, 17222501: 17222501
3 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh37 Chromosome 17, 17118285: 17118285
4 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh38 Chromosome 17, 17214971: 17214971
5 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
6 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh38 Chromosome 17, 17224069: 17224071
7 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
8 FLCN NM_144997.5(FLCN): c.1285dupC (p.His429Profs) duplication Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
9 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh37 Chromosome 17, 17118598: 17118598
10 FLCN NM_144997.5(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh38 Chromosome 17, 17215284: 17215284
11 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
12 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
13 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
14 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh38 Chromosome 17, 17214987: 17214990
15 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
16 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh38 Chromosome 17, 17224136: 17224136
17 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
18 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh38 Chromosome 17, 17217070: 17217089
19 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic
20 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh37 Chromosome 17, 17129618: 17129618
21 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh38 Chromosome 17, 17226304: 17226304
22 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh37 Chromosome 17, 17122436: 17122436
23 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh38 Chromosome 17, 17219122: 17219122
24 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh37 Chromosome 17, 17118599: 17118599
25 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh38 Chromosome 17, 17215285: 17215285
26 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 NCBI36 Chromosome 17, 17059324: 17059324
27 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh37 Chromosome 17, 17122327: 17122327
28 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh38 Chromosome 17, 17219013: 17219013
29 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh37 Chromosome 17, 17119761: 17119761
30 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh38 Chromosome 17, 17216447: 17216447
31 FLCN NM_144997.6(FLCN): c.397-13G> A single nucleotide variant Benign rs3744123 GRCh37 Chromosome 17, 17127470: 17127470
32 FLCN NM_144997.6(FLCN): c.397-13G> A single nucleotide variant Benign rs3744123 GRCh38 Chromosome 17, 17224156: 17224156
33 FLCN NM_144997.6(FLCN): c.397-14C> T single nucleotide variant Benign rs1736219 GRCh37 Chromosome 17, 17127471: 17127471
34 FLCN NM_144997.6(FLCN): c.397-14C> T single nucleotide variant Benign rs1736219 GRCh38 Chromosome 17, 17224157: 17224157
35 FLCN NM_144997.6(FLCN): c.726A> T (p.Thr242=) single nucleotide variant Benign rs113938514 GRCh37 Chromosome 17, 17125868: 17125868
36 FLCN NM_144997.6(FLCN): c.726A> T (p.Thr242=) single nucleotide variant Benign rs113938514 GRCh38 Chromosome 17, 17222554: 17222554
37 FLCN NM_144997.6(FLCN): c.592G> A (p.Asp198Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200168437 GRCh37 Chromosome 17, 17127262: 17127262
38 FLCN NM_144997.6(FLCN): c.592G> A (p.Asp198Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200168437 GRCh38 Chromosome 17, 17223948: 17223948
39 FLCN NM_144997.6(FLCN): c.1269C> T (p.His423=) single nucleotide variant Benign/Likely benign rs41464156 GRCh37 Chromosome 17, 17119725: 17119725
40 FLCN NM_144997.6(FLCN): c.1269C> T (p.His423=) single nucleotide variant Benign/Likely benign rs41464156 GRCh38 Chromosome 17, 17216411: 17216411
41 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh37 Chromosome 17, 17131370: 17131370
42 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh38 Chromosome 17, 17228056: 17228056
43 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh37 Chromosome 17, 17122536: 17122536
44 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh38 Chromosome 17, 17219222: 17219222
45 FLCN NM_144997.5(FLCN): c.*393G> A single nucleotide variant Benign rs12602675 GRCh38 Chromosome 17, 17213262: 17213262
46 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh38 Chromosome 17, 17212473: 17212473
47 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh37 Chromosome 17, 17115787: 17115787
48 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh38 Chromosome 17, 17212688: 17212688
49 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh37 Chromosome 17, 17116002: 17116002
50 FLCN NM_144997.5(FLCN): c.*956A> G single nucleotide variant Benign rs141650706 GRCh38 Chromosome 17, 17212699: 17212699

Expression for Pneumothorax, Primary Spontaneous

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

Pathways for Pneumothorax, Primary Spontaneous

GO Terms for Pneumothorax, Primary Spontaneous

Biological processes related to Pneumothorax, Primary Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.37 HPSE TGFBR1
2 cell-matrix adhesion GO:0007160 9.32 FBLN5 HPSE
3 regulation of protein phosphorylation GO:0001932 9.26 FLCN FNIP1
4 negative regulation of TOR signaling GO:0032007 9.16 FLCN FNIP1
5 TOR signaling GO:0031929 8.96 FLCN FNIP1
6 regulation of pro-B cell differentiation GO:2000973 8.62 FLCN FNIP1

Molecular functions related to Pneumothorax, Primary Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 8.62 FLCN FNIP1

Sources for Pneumothorax, Primary Spontaneous

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