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PSP
MCID: PNM010
MIFTS: 58

Pneumothorax, Primary Spontaneous (PSP)

Categories: Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pneumothorax, Primary Spontaneous

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MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 57 29 13 6 39 70
Primary Spontaneous Pneumothorax 12 20 43 72 15
Spontaneous Pneumothorax 20 43 54 6 70
Psp 57 43 72
Familial Spontaneous Pneumothorax 20 58
Pneumothorax 43 70

Characteristics:

Orphanet epidemiological data:

58
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
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

Inheritance:
autosomal dominant


HPO:

31
pneumothorax, primary spontaneous:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0080218
OMIM® 57 173600
ICD10 via Orphanet 33 J93.1
Orphanet 58 ORPHA2903
MedGen 41 C1868193
SNOMED-CT via HPO 68 263681008 36118008 80423007
UMLS 70 C0032326 C0149781 C1868193
Sources

Summaries for Pneumothorax, Primary Spontaneous

About this section
GARD : 20 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 primary spontaneous pneumothorax, is related to congenital heart defects, hamartomas of tongue, and polysyndactyly and birt-hogg-dube syndrome, and has symptoms including dyspnea and hemoptysis. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin), and among its related pathways/superpathways are Innate Lymphoid Cell Differentiation Pathways and Th2 Differentiation Pathway. The drugs Minocycline and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and heart, and related phenotypes are pneumothorax and abnormal pleura morphology

Disease Ontology : 12 A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.

MedlinePlus Genetics : 43 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.Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

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Related Diseases for Pneumothorax, Primary Spontaneous

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

(show top 50) (show all 856)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 FLCN CCL26
2 birt-hogg-dube syndrome 30.3 FNIP1 FLCN
3 kidney angiomyolipoma 30.1 FNIP1 FLCN
4 angiomyolipoma 29.9 FLCN CCL26
5 allergic disease 29.3 TSLP IL33 IL1RL1
6 asthma 28.9 TSLP PTGDR2 IL33 IL1RL1 CCL26
7 supranuclear palsy, progressive, 1 11.8
8 spontaneous tension pneumothorax 11.5
9 parkinson-dementia syndrome 11.4
10 tuberculous pneumothorax 11.3
11 progressive supranuclear palsy-corticobasal syndrome 11.1
12 pulmonary bullae causing pneumothorax 11.1
13 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.1
14 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.1
15 pneumothorax 11.1
16 pulmonary fibrosis 11.0
17 virus-associated trichodysplasia spinulosa 10.9
18 perry syndrome 10.9
19 classic progressive supranuclear palsy syndrome 10.9
20 dicer1 tumor predisposition 10.9
21 hereditary multiple osteochondromas 10.9
22 loeys-dietz syndrome 10.9
23 pulmonary tuberculosis 10.8
24 pneumonia 10.6
25 parkinsonism 10.6
26 lung disease 10.5
27 cystic fibrosis 10.5
28 pleurisy 10.5
29 multiple system atrophy 1 10.4
30 pulmonary disease, chronic obstructive 10.4
31 corticobasal degeneration 10.4
32 benign mesothelioma 10.4
33 sarcoma 10.4
34 spindle cell sarcoma 10.4
35 covid-19 10.3
36 interstitial lung disease 10.3
37 acquired immunodeficiency syndrome 10.3
38 sarcoidosis 1 10.3
39 silicosis 10.3
40 paresthesia 10.3
41 osteogenic sarcoma 10.3
42 aspergillosis 10.3
43 severe acute respiratory syndrome 10.3
44 bronchiectasis 10.3
45 tuberous sclerosis 10.3
46 miliary tuberculosis 10.3
47 angiosarcoma 10.3
48 frontotemporal dementia 10.3
49 cyanosis, transient neonatal 10.2
50 pulmonary interstitial emphysema 10.2

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



Diseases related to Pneumothorax, Primary Spontaneous
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Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

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Human phenotypes related to Pneumothorax, Primary Spontaneous:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pneumothorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0002107
2 abnormal pleura morphology 31 hallmark (90%) HP:0002103
3 abnormality of the pleura 58 Very frequent (99-80%)
4 spontaneous pneumothorax 31 HP:0002108
5 abnormality of the respiratory system 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
pneumothorax
subpleural blebs
bullae

Clinical features from OMIM®:

173600 (Updated 05-Apr-2021)

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea; hemoptysis

MGI Mouse Phenotypes related to Pneumothorax, Primary Spontaneous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.23 COL9A3 FLCN FNIP1 IL1RL1 IL33 PTGDR2
Sources

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

About this section

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
3
Cefazolin Approved Phase 2, Phase 3 25953-19-9 33255 656510
4
Clindamycin Approved, Vet_approved Phase 2, Phase 3 18323-44-9 29029
5 Anti-Bacterial Agents Phase 2, Phase 3
6 Anti-Infective Agents Phase 2, Phase 3
7 Anesthetics, General Phase 3
8 Anesthetics, Intravenous Phase 3
9 Narcotics Phase 3
10 Analgesics, Opioid Phase 3
11 Pulmonary Surfactants Phase 3
12 Antibiotics, Antitubercular Phase 2, Phase 3
13 Clindamycin phosphate Phase 2, Phase 3
14 Clindamycin palmitate Phase 2, Phase 3
15 Lactams Phase 2, Phase 3
16 penicillins Phase 2, Phase 3
17 Respiratory System Agents Phase 3
18
Povidone Approved Phase 1, Phase 2 9003-39-8 131751496
19
Povidone-iodine Approved Phase 1, Phase 2 25655-41-8
20
Dimenhydrinate Approved Phase 1, Phase 2 523-87-5 441281
21
Iodine Approved, Investigational Phase 1, Phase 2 7553-56-2 807
22
Cadexomer iodine Experimental Phase 1, Phase 2 94820-09-4
23 insulin Phase 2
24 Insulin, Globin Zinc Phase 2
25 Anti-Infective Agents, Local Phase 1, Phase 2
26
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
27
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
28 Pharmaceutical Solutions Phase 1
29 Trace Elements Phase 1
30 Nutrients Phase 1
31 Plasma Substitutes Phase 1
32 Micronutrients Phase 1
33 Blood Substitutes Phase 1
34
Furosemide Approved, Vet_approved 54-31-9 3440
35
tannic acid Approved 1401-55-4
36
Dexmedetomidine Approved, Vet_approved 113775-47-6 5311068 68602
37
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
38
Sevoflurane Approved, Vet_approved 28523-86-6 5206
39
Nitrous oxide Approved, Vet_approved 10024-97-2 948
40
Ketamine Approved, Vet_approved 6740-88-1 3821
41
Rocuronium Approved 119302-91-9, 143558-00-3 441290
42
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
43
Ropivacaine Approved 84057-95-4 71273 175805
44 Kava Approved, Investigational, Nutraceutical 9000-38-8
45 Vasodilator Agents
46 diuretics
47 Anti-Arrhythmia Agents
48 Sodium Channel Blockers
49 Diuretics, Potassium Sparing
50 Anesthetics, Local

Interventional clinical trials:

(show top 50) (show all 135)
# Name Status NCT ID Phase Drugs
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Early Administration of Surfactant in Spontaneous Breathing (TAKE CARE) Versus InSurE (Intubation, Surfactant, Extubation) : A Pilot Study Unknown status NCT01329432 Phase 4
3 Phase III Study of Additional Minocycline Pleurodesis After Video-Assisted Thoracoscopic Surgery for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
4 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax: A Randomized Trial Unknown status NCT00418392 Phase 3
5 Thoracoscopic Bullectomy With Absorbable Mesh Coverage of the Staple Line Versus Thoracoscopic Bullectomy Only for the Treatment of Primary Spontaneous Pneumothorax: a Single-blind, Parallel-group, Prospective, Randomized Controlled Trial Unknown status NCT01848860 Phase 2, Phase 3
6 Comparison of Pleural Abrasion Plus Minocycline Pleurodesis Versus Apical Pleurectomy After Thoracoscopic Bullectomy for High Recurrent Risk Patients With Primary Spontaneous Pneumothorax: A Prospective Randomized Trial. Unknown status NCT00270751 Phase 2, Phase 3
7 Comparison of Chest Tube Drainage Versus Thoracoscopic Surgery for Unsuccessful Aspiration of Primary Spontaneous Pneumothorax: a Prospective Randomized Trial Unknown status NCT00713362 Phase 2, Phase 3
8 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence After Operation by Video-assisted Thoracic Surgery in the Treatment of Primary Spontaneous Pneumothorax(PSP) Unknown status NCT02558608 Phase 3
9 A Prospective Randomized Study of 14-French (14F) Pigtail Catheters Versus 28F Chest Tubes in Patients With Traumatic Pneumothorax: Impact on Tube-Site Pain and Failure Rate Unknown status NCT01537289 Phase 3
10 Use of a Novel Chest Tube Insertion Device for Urgent Thoracostomy in an Emergency Department Setting Unknown status NCT03734471 Phase 3
11 Phase III Study of Evaluation of the Efficacy of Additional Mechanical Pleurodesis After Thoracoscopic Wedge Resection for the Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
12 Efficacy and Safety of Continuous Infusion of Fentanyl for Pain Control in Preterm Newborn on Mechanical Ventilation Completed NCT00571636 Phase 3 Fentanyl;5% glucose solution
13 A Prospective, Randomized, Multi-centered Safety and Efficacy Evaluation of the Bio-Seal Track Plug for Reducing Pneumothorax Rates Post Lung Biopsy Completed NCT00562302 Phase 3
14 A Prospective Randomized Multi-Centered Study and Efficacy Evaluation of the Bio-Seal Biopsy Track Plug for Reducing Pneumothorax Rates Post Lung Biopsy Procedures Completed NCT00527722 Phase 2, Phase 3
15 KatGuide-trial. KatGuide Method Versus Conventional Method at Insertion of Chest Tube. A Randomized, Parallel Group, Controlled Trial. Completed NCT01522885 Phase 3
16 The Role of Antibiotics in the Reduction of Infectious Complications in Tube Thoracotomy Management of Traumatic Hemopneumothorax: A Prospective, Double-Blinded Study Completed NCT01127880 Phase 2, Phase 3 Ancef or Clindamycin;Placebo
17 Very Early Surfactant Without Mandatory Ventilation In Premature Infants Treated With Early Continuous Positive Airway Pressure-A Randomized Controlled Trial Completed NCT00563641 Phase 3
18 Effect of Autologous Blood Patch Injection Versus BioSentry Hydrogel Tract Plug in the Reduction of Pneumothorax Risk Following Lung Biopsy Procedures Active, not recruiting NCT02224924 Phase 3
19 Minimally Invasive Esophagectomy in Prone or Left Decubitus Position: A Prospective Randomized Clinical Trial From A Single Institution Unknown status NCT01144325 Phase 2
20 Lung Deflation With Arndt® Blocker During Video-Assisted Thoracoscopy: A Comparison of the Disconnection Technique With a Continuous Bronchial Suction Completed NCT02030795 Phase 2
21 Efficacy, Safety and Re-occurrence of Pneumothorax and Hydro-pneumothorax With Talc and Pyodine Pleurodesis: A Randomized Control Trial Enrolling by invitation NCT04130451 Phase 1, Phase 2 PYODINE AND TALC SLURRY
22 Gelfoam Slurry as an Embolization Agent of the Needle Tract to Prevent Pneumothorax From Percutaneous CT-guided Lung Biopsy: A Randomized Controlled Trial Withdrawn NCT03669003 Phase 2
23 Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax Unknown status NCT02916992 Phase 1
24 Platelet Rich Plasma in Secondary Spontaneous Pneumothorax Recruiting NCT03830645 Phase 1
25 Comparison of the Effectiveness of Povidone-Iodine Alone to Povidone-Iodine-Tetracycline Combination for Chemical Pleurodesis in Malignant Pleural Effusion Recruiting NCT04039126 Phase 1 CHEMICAL PLEURODESIS WITH POVIDONE-IODINE-TETRACYCLINE COMBINATION;CHEMICAL PLEURODESIS WITH POVIDONE-IODINE ALONE
26 Molecular Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
27 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Unknown status NCT03052101
28 The Incidence of Pneumothorax After CT-guided Lung Biopsy Performed With and Without Autologous Blood Patching: a Randomized Single-center Prospective Study Unknown status NCT03804957
29 Evaluation of a Novel Point-of-care Percussion Device (PD) for Detection of Pneumothorax in Patients Following Thoracic Surgery Unknown status NCT03272815
30 Primary Spontaneous Pneumothorax and Different Types of Surgical Management Unknown status NCT03804385
31 PCL (Poly-ε-caprolactone) Mesh Pleurodesis in Thoracoscopic Treatment of Primary Spontaneous Pneumothorax Unknown status NCT03227978 Early Phase 1
32 Intrapleural Minocycline After Manual Aspiration for the Prevention of Primary Spontaneous Pneumothorax. A Phase III Multicenter Prospective Randomized Controlled Trial Unknown status NCT00839553
33 Randomized Controlled Trial on Comparison of Chest Tube Drainage and Needle Aspiration in Treatment of Spontaneous Pneumothorax Unknown status NCT03293199
34 Endobronchial Ultrasonography With a Guide Sheath Versus Computed Tomography-guided Transthoracic Needle Biopsy in the Diagnosis of Peripheral Pulmonary Lesions Unknown status NCT02740400
35 Are EMS Personnel Prepared to Identify and Decompression of Tension Pneumothorax: A Randomized, Crossover Manikin Trial Unknown status NCT02709122
36 Daily Lung Ultrasound Assisting Weaning From Mechanical Ventilation in Difficult-to-wean Adult Patients - a Randomized Trial. Unknown status NCT01724034
37 Effects of Nonintubated Thoracoscopic Lobectomy on Lung Protection: A Randomized Controlled Trial Unknown status NCT03471884
38 Pre-EDIT: A Randomised, Feasibility Trial of Elastance-Directed Intra-pleural Catheter or Talc Pleurodesis (EDIT) in the Management of Symptomatic Malignant Pleural Effusion Without Obvious Non-expansile Lung Unknown status NCT03319186
39 Prevention of Pneumothorax Following Endoscopic Valve Therapy in Patients With Severe Emphysema Unknown status NCT03034421
40 Changes in Heart Rate Variability in Ventilated Patients Undergoing Tension Pneumothorax for Thoracoscopic Cervical Sympathectomy Unknown status NCT03537417
41 A Multi-site Randomized Controlled Study of Interventional Treatment of Refractory Pneumothorax by Bronchoscope Unknown status NCT02352012
42 Predictive Score of PneumOThorax Secondary to CT-guided Transthoracic Lung Biopsy Made From a Large Retrospective Cohort and Validated on a Prospective Cohort Unknown status NCT03488043
43 Training Thoracic Ultrasound Skills: a Multicentre, Blinded, Randomized Controlled Trial of Simulation-based Training Versus Training on Healthy Figurants Unknown status NCT03728491
44 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664
45 A Randomized, Controlled Trial of the Use of a Dedicated Ballooned Intercostal Tube Unknown status NCT03000504
46 Mechanical Ventilation During Cardiac Surgery, a Randomized Controlled Trial Unknown status NCT02090205
47 Video-guided Percutaneous Tracheostomy (PCT): Evaluating the Safety, Efficacy and Simplicity of a Novel Technique, Compared to Conventional PCT Unknown status NCT01012518
48 Video-guided Percutaneous Tracheostomy (PCT): Evaluating the Safety, Efficacy and Simplicity of a Novel Technique Unknown status NCT01013298
49 Intrapleural Minocycline Following Simple Aspiration for Initial Treatment of Primary Spontaneous Pneumothorax: a Retrospective Study Completed NCT00520221
50 Impact of Pneumothorax Duration Before Treatment on the Success of Needle Exsufflation Completed NCT02528734

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Talc
Sources

Genetic Tests for Pneumothorax, Primary Spontaneous

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Genetic tests related to Pneumothorax, Primary Spontaneous:

# Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous 29 FLCN
Sources

Anatomical Context for Pneumothorax, Primary Spontaneous

About this section

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

40
Lung, Liver, Heart, Bone, Kidney, Breast, Thyroid
Sources

Publications for Pneumothorax, Primary Spontaneous

About this section

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 4797)
# Title Authors PMID Year
1
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 57 61 54 6
18505456 2008
2
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. 54 57 6 61
17496196 2007
3
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. 61 54 6 57
15657874 2005
4
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. 6 57
20413710 2010
5
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. 61 6
19562744 2009
6
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 6 61
15852235 2005
7
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 61 6
12471204 2002
8
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. 6 61
12204536 2002
9
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. 61 57
9624302 1998
10
On the inheritance of primary spontaneous pneumothorax. 61 57
1897568 1991
11
Concurrent spontaneous pneumothorax in identical twins. 57 61
3590059 1986
12
Familial spontaneous pneumothorax. 57 61
3590058 1986
13
Familial spontaneous pneumothorax and HLA antigens. 61 57
6967392 1980
14
Familial spontaneous pneumothorax. 57 61
471607 1979
15
Spontaneous pneumothorax: the sharp rib syndrome. 57 61
968792 1976
16
Familial spontaneous pneumothorax. 57 61
13432837 1957
17
Recurrent and chronic spontaneous pneumothorax. 57 61
18867168 1948
18
FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. 6
25126726 2014
19
Birt-Hogg-Dube syndrome is a novel ciliopathy. 6
23784378 2013
20
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. 6
20522427 2010
21
The wrist sign. A useful physical finding in the Marfan syndrome. 57
5433066 1970
22
Familial occurrence of pneumothorax simplex. 57
15418962 1950
23
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 61 54
19802896 2010
24
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 54 61
19483054 2009
25
[Hereditary renal cancer]. 61 54
19418834 2009
26
Folliculin mutations are not associated with severe COPD. 61 54
19116017 2008
27
Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 61 54
18579543 2008
28
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 54 61
18234728 2008
29
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. 61 54
17611575 2008
30
Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma. 54 61
17323425 2007
31
Familial spontaneous pneumothorax. 61 54
16825879 2006
32
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. 61 54
16447066 2006
33
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 61 54
15805188 2005
34
Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. 54 61
15579035 2004
35
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. 54 61
15143337 2004
36
Management of primary spontaneous pneumothorax: less is more. 61
33341134 2021
37
Management of primary spontaneous pneumothorax: less is more - Authors' reply. 61
33341133 2021
38
Swyer-James-MacLeod syndrome presenting as spontaneous pneumothorax in an adult: Case report and review of literature. 61
33732407 2021
39
C-shaped pleura cautery in primary spontaneous pneumothorax patients for pleurodesis. 61
32098935 2021
40
The effect of meteorological variables on spontaneous pneumothorax in two regions with different altitudes. 61
33145619 2021
41
The child with a syndrome: considerations for management in the emergency department. 61
33779129 2021
42
Is conventional management of primary spontaneous pneumothorax appropriate? 61
33180257 2021
43
Delayed recurrent spontaneous pneumothorax in a patient recovering from COVID-19 pneumonia. 61
32867010 2021
44
Nonintubated Video-Assisted Thoracoscopic Surgery Using Local Anesthesia for Catamenial Pneumothorax. 61
32971062 2021
45
New pneumothorax complicating successful treatment of persistent air leak by endobronchial valves. 61
33732465 2021
46
Frequency, Risk Factors, Clinical Characteristics, and Outcomes of Spontaneous Pneumothorax in Patients With Coronavirus Disease 2019: A Case-Control, Emergency Medicine-Based Multicenter Study. 61
33227276 2021
47
Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1. 61
33737277 2021
48
A rare complication of Covid-19: Spontaneous pneumothorax following pneumomediastinum; case report. 61
33750666 2021
49
Point-of-care lung ultrasound in the diagnosis and monitoring of paediatric patients with spontaneous pneumothorax in SARS-CoV-2 infection. 61
33655654 2021
50
COVID-19 with spontaneous pneumothorax, pneumomediastinum, and subcutaneous emphysema in the intensive care unit: Two case reports. 61
33610937 2021
Sources

Variations for Pneumothorax, Primary Spontaneous

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ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLCN NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer) Deletion Pathogenic 3372 rs886037608 GRCh37: 17:17118301-17118304
GRCh38: 17:17214987-17214990
2 FLCN NM_144997.7(FLCN):c.404del (p.Pro135fs) Deletion Pathogenic 3373 rs886037609 GRCh37: 17:17127450-17127450
GRCh38: 17:17224136-17224136
3 FLCN NM_144997.7(FLCN):c.1156_1175del (p.Ser386fs) Deletion Pathogenic 3375 rs886037610 GRCh37: 17:17120384-17120403
GRCh38: 17:17217070-17217089
4 FLCN NM_144997.5(FLCN):c.872-?_c.1740+?del Deletion Pathogenic 3379 GRCh37:
GRCh38:
5 FLCN NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) SNV Pathogenic 161246 rs368778627 GRCh37: 17:17125815-17125815
GRCh38: 17:17222501-17222501
6 FLCN NM_144997.7(FLCN):c.1285dup (p.His429fs) Duplication Pathogenic 3363 rs80338682 GRCh37: 17:17119708-17119709
GRCh38: 17:17216394-17216395
7 FLCN NM_144997.7(FLCN):c.235_238del (p.Ser79fs) Deletion Pathogenic 3371 rs750146811 GRCh37: 17:17131214-17131217
GRCh38: 17:17227900-17227903
8 FLCN NM_144997.7(FLCN):c.466_468TTC[1] (p.Phe157del) Microsatellite Pathogenic 186785 rs786203218 GRCh37: 17:17127383-17127385
GRCh38: 17:17224069-17224071
9 FLCN NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) SNV Pathogenic 3367 rs137852929 GRCh37: 17:17118542-17118542
GRCh38: 17:17215228-17215228
10 FLCN NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) Duplication Pathogenic 96493 rs398124542 GRCh37: 17:17122440-17122441
GRCh38: 17:17219126-17219127
11 FLCN NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) SNV Pathogenic 253251 rs879255678 GRCh37: 17:17118502-17118502
GRCh38: 17:17215188-17215188
12 FLCN NM_144997.7(FLCN):c.1203dup (p.Ile402fs) Duplication Pathogenic 96473 rs398124526 GRCh37: 17:17119790-17119791
GRCh38: 17:17216476-17216477
13 FLCN NM_144997.7(FLCN):c.779+1G>T SNV Likely pathogenic 231274 rs758175953 GRCh37: 17:17125814-17125814
GRCh38: 17:17222500-17222500
14 FLCN NM_144997.7(FLCN):c.1432+2T>C SNV Likely pathogenic 633219 rs1567807517 GRCh37: 17:17118497-17118497
GRCh38: 17:17215183-17215183
15 FLCN NM_144997.7(FLCN):c.*4G>A SNV Uncertain significance 888566 GRCh37: 17:17116965-17116965
GRCh38: 17:17213651-17213651
16 FLCN NM_144997.7(FLCN):c.798C>T (p.Gly266=) SNV Uncertain significance 888616 GRCh37: 17:17124924-17124924
GRCh38: 17:17221610-17221610
17 FLCN NM_144997.7(FLCN):c.-342G>A SNV Uncertain significance 888727 GRCh37: 17:17140340-17140340
GRCh38: 17:17237026-17237026
18 FLCN NM_144997.7(FLCN):c.*1101C>G SNV Uncertain significance 889505 GRCh37: 17:17115868-17115868
GRCh38: 17:17212554-17212554
19 FLCN NM_144997.7(FLCN):c.*1035T>C SNV Uncertain significance 889506 GRCh37: 17:17115934-17115934
GRCh38: 17:17212620-17212620
20 FLCN NM_144997.7(FLCN):c.*915G>T SNV Uncertain significance 890168 GRCh37: 17:17116054-17116054
GRCh38: 17:17212740-17212740
21 FLCN NM_144997.7(FLCN):c.1482C>T (p.Asn494=) SNV Uncertain significance 819339 rs1597578831 GRCh37: 17:17118355-17118355
GRCh38: 17:17215041-17215041
22 FLCN NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) SNV Uncertain significance 409392 rs200660337 GRCh37: 17:17118374-17118374
GRCh38: 17:17215060-17215060
23 FLCN NM_144997.7(FLCN):c.*846C>T SNV Uncertain significance 890749 GRCh37: 17:17116123-17116123
GRCh38: 17:17212809-17212809
24 FLCN NM_144997.7(FLCN):c.*339C>T SNV Uncertain significance 890789 GRCh37: 17:17116630-17116630
GRCh38: 17:17213316-17213316
25 FLCN NM_144997.7(FLCN):c.-65A>G SNV Uncertain significance 890374 GRCh37: 17:17135148-17135148
GRCh38: 17:17231834-17231834
26 FLCN NM_144997.7(FLCN):c.*178A>C SNV Uncertain significance 892027 GRCh37: 17:17116791-17116791
GRCh38: 17:17213477-17213477
27 FLCN NM_144997.7(FLCN):c.*140C>T SNV Uncertain significance 892028 GRCh37: 17:17116829-17116829
GRCh38: 17:17213515-17213515
28 FLCN NM_144997.7(FLCN):c.*29G>A SNV Uncertain significance 892029 GRCh37: 17:17116940-17116940
GRCh38: 17:17213626-17213626
29 FLCN NM_144997.7(FLCN):c.-173G>A SNV Uncertain significance 888726 GRCh37: 17:17136161-17136161
GRCh38: 17:17232847-17232847
30 FLCN NM_144997.7(FLCN):c.1300+14C>T SNV Uncertain significance 322063 rs200823760 GRCh37: 17:17119680-17119680
GRCh38: 17:17216366-17216366
31 FLCN NM_144997.7(FLCN):c.*333C>T SNV Uncertain significance 322057 rs750896108 GRCh37: 17:17116636-17116636
GRCh38: 17:17213322-17213322
32 FLCN NM_144997.7(FLCN):c.*528G>A SNV Uncertain significance 322049 rs184006653 GRCh37: 17:17116441-17116441
GRCh38: 17:17213127-17213127
33 FLCN NM_144997.7(FLCN):c.*634A>C SNV Uncertain significance 322047 rs199572622 GRCh37: 17:17116335-17116335
GRCh38: 17:17213021-17213021
34 FLCN NM_144997.7(FLCN):c.*887T>C SNV Uncertain significance 322043 rs886052657 GRCh37: 17:17116082-17116082
GRCh38: 17:17212768-17212768
35 FLCN NM_144997.7(FLCN):c.*178A>G SNV Uncertain significance 322060 rs145430714 GRCh37: 17:17116791-17116791
GRCh38: 17:17213477-17213477
36 FLCN NM_144997.7(FLCN):c.*290C>T SNV Uncertain significance 322058 rs886052660 GRCh37: 17:17116679-17116679
GRCh38: 17:17213365-17213365
37 FLCN NM_144997.7(FLCN):c.-437C>T SNV Uncertain significance 322085 rs886052663 GRCh37: 17:17140435-17140435
GRCh38: 17:17237121-17237121
38 FLCN NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) SNV Uncertain significance 134423 rs556510460 GRCh37: 17:17131318-17131318
GRCh38: 17:17228004-17228004
39 FLCN NM_144997.7(FLCN):c.-17dup Duplication Uncertain significance 322071 rs886052662 GRCh37: 17:17131467-17131468
GRCh38: 17:17228153-17228154
40 FLCN NM_144997.7(FLCN):c.*1179dup Duplication Uncertain significance 322037 rs397932764 GRCh37: 17:17115789-17115790
GRCh38: 17:17212475-17212476
41 FLCN NM_144997.7(FLCN):c.*695_*696del Deletion Uncertain significance 322045 rs886052658 GRCh37: 17:17116273-17116274
GRCh38: 17:17212959-17212960
42 FLCN NM_144997.7(FLCN):c.*967T>C SNV Uncertain significance 322039 rs886052656 GRCh37: 17:17116002-17116002
GRCh38: 17:17212688-17212688
43 FLCN NM_144997.7(FLCN):c.*224G>A SNV Uncertain significance 322059 rs541003301 GRCh37: 17:17116745-17116745
GRCh38: 17:17213431-17213431
44 FLCN NM_144997.7(FLCN):c.791C>T (p.Ala264Val) SNV Uncertain significance 322066 rs372304384 GRCh37: 17:17124931-17124931
GRCh38: 17:17221617-17221617
45 FLCN NM_144997.7(FLCN):c.*1273C>T SNV Uncertain significance 322035 rs886052654 GRCh37: 17:17115696-17115696
GRCh38: 17:17212382-17212382
46 FLCN NM_144997.7(FLCN):c.617A>G (p.Lys206Arg) SNV Uncertain significance 322067 rs886052661 GRCh37: 17:17127237-17127237
GRCh38: 17:17223923-17223923
47 FLCN NM_144997.7(FLCN):c.*1179T>A SNV Uncertain significance 322038 rs540609895 GRCh37: 17:17115790-17115790
GRCh38: 17:17212476-17212476
48 FLCN NM_144997.7(FLCN):c.-143C>A SNV Uncertain significance 322080 rs560968516 GRCh37: 17:17136131-17136131
GRCh38: 17:17232817-17232817
49 FLCN NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu) SNV Uncertain significance 322062 rs756944795 GRCh37: 17:17118503-17118503
GRCh38: 17:17215189-17215189
50 FLCN NM_144997.7(FLCN):c.250-7T>C SNV Uncertain significance 322069 rs748857550 GRCh37: 17:17129643-17129643
GRCh38: 17:17226329-17226329

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

72
# Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

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Expression for Pneumothorax, Primary Spontaneous

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

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

# Super pathways Score Top Affiliating Genes
1
Innate Lymphoid Cell Differentiation Pathways 64
10.83 TSLP PTGDR2 IL33 IL1RL1
2
Th2 Differentiation Pathway 64
10.82 IL33 IL1RL1
3
Development and heterogeneity of the ILC family 1
10.46 TSLP IL33
Sources

GO Terms for Pneumothorax, Primary Spontaneous

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Cellular components related to Pneumothorax, Primary Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell contact zone GO:0044291 8.62 PKP4 FLCN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of inflammatory response GO:0050729 9.58 TSLP IL33 IL1RL1
2 negative regulation of interferon-gamma production GO:0032689 9.54 IL33 IL1RL1
3 cell-cell junction assembly GO:0007043 9.52 PKP4 FLCN
4 positive regulation of TOR signaling GO:0032008 9.51 FNIP1 FLCN
5 negative regulation of TOR signaling GO:0032007 9.49 FNIP1 FLCN
6 positive regulation of macrophage activation GO:0043032 9.48 IL33 IL1RL1
7 TOR signaling GO:0031929 9.46 FNIP1 FLCN
8 positive regulation of interleukin-13 production GO:0032736 9.43 TSLP IL33
9 negative regulation of mitochondrion organization GO:0010823 9.37 FNIP1 FLCN
10 regulation of pro-B cell differentiation GO:2000973 9.32 FNIP1 FLCN
11 negative regulation of T-helper 1 type immune response GO:0002826 9.26 IL33 IL1RL1
12 interleukin-33-mediated signaling pathway GO:0038172 9.16 IL33 IL1RL1
13 positive regulation of chemokine production GO:0032722 9.13 TSLP IL33 IL1RL1
14 positive regulation of interleukin-5 production GO:0032754 8.8 TSLP IL33 IL1RL1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 TSLP IL33 CCL26
Sources

Sources for Pneumothorax, Primary Spontaneous

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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