PSP
MCID: PNM010
MIFTS: 59

Pneumothorax, Primary Spontaneous (PSP)

Categories: Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Pneumothorax, Primary Spontaneous

MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 57 12 38 71
Primary Spontaneous Pneumothorax 11 19 42 73 14
Spontaneous Pneumothorax 19 42 53 5 71
Familial Spontaneous Pneumothorax 19 58 28 5
Psp 57 42 73
Pneumothorax 42 71

Characteristics:


Inheritance:

Pneumothorax, Primary Spontaneous: Autosomal dominant 57
Familial Spontaneous Pneumothorax: Autosomal dominant 58

Prevelance:

Familial Spontaneous Pneumothorax: 1-5/10000 (Finland) 58

Age Of Onset:

Familial Spontaneous Pneumothorax: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 11 DOID:0080218
OMIM® 57 173600
ICD10 via Orphanet 32 J93.1
Orphanet 58 ORPHA2903
MedGen 40 C1868193
SNOMED-CT via HPO 69 36118008 80423007
UMLS 71 C0032326 C0149781 C1868193

Summaries for Pneumothorax, Primary Spontaneous

MedlinePlus Genetics: 42 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.

MalaCards based summary: Pneumothorax, Primary Spontaneous, also known as primary spontaneous pneumothorax, is related to pneumothorax and birt-hogg-dube syndrome, and has symptoms including hemoptysis and dyspnea. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin), and among its related pathways/superpathways are Innate Lymphoid Cells Differentiation and Th2 Differentiation. The drugs Lidocaine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and heart, and related phenotypes are pneumothorax and abnormality of the pleura

GARD: 19 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. In rare cases, the condition can be caused by genetic changes in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance.

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Orphanet: 58 Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.

Disease Ontology: 11 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.

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 1051)
# Related Disease Score Top Affiliating Genes
1 pneumothorax 32.0 SERPINA1 FLCN FBN1
2 birt-hogg-dube syndrome 30.5 PKP4 FNIP2 FNIP1 FLCN
3 kidney angiomyolipoma 30.0 FNIP1 FLCN
4 acute asthma 29.9 TSLP IL33
5 intermittent asthma 29.8 TSLP IL33
6 polycystic liver disease 1 with or without kidney cysts 29.7 FLCN FBN1
7 diaphragmatic eventration 29.6 LRRC43 FBN1
8 occupational asthma 29.6 TSLP IL33
9 chromophobe renal cell carcinoma 29.5 FNIP2 FNIP1 FLCN
10 common cold 29.4 TSLP PTGDR2 IL33
11 asthma 29.4 TSLP SERPINA1 PTGDR2 IL33 IL1RL1
12 childhood-onset asthma 29.0 TSLP IL33 IL1RL1
13 supranuclear palsy, progressive, 1 11.8
14 parkinson-dementia syndrome 11.8
15 tuberculous pneumothorax 11.4
16 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.4
17 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.4
18 progressive supranuclear palsy-corticobasal syndrome 11.3
19 classic progressive supranuclear palsy syndrome 11.3
20 conjugate gaze palsy 11.1
21 pulmonary bullae causing pneumothorax 11.1
22 pleuropulmonary blastoma 11.1
23 pulmonary fibrosis 11.0
24 virus-associated trichodysplasia spinulosa 11.0
25 perry syndrome 10.9
26 hereditary multiple osteochondromas 10.9
27 idiopathic pleuroparenchymal fibroelastosis 10.9
28 neurometabolic disorder due to serine deficiency 10.9
29 loeys-dietz syndrome 10.9
30 dicer1 syndrome 10.9
31 musculocontractural ehlers-danlos syndrome 10.9
32 congenital pulmonary airway malformation type 4 10.9
33 pulmonary tuberculosis 10.8
34 pneumonia 10.6
35 parkinsonism 10.6
36 papillon-lefevre syndrome 10.6
37 pneumocystosis 10.5
38 enterocele 10.5
39 spontaneous tension pneumothorax 10.5
40 diaphragmatic hernia, congenital 10.5
41 pleurisy 10.5
42 multiple system atrophy 1 10.5
43 cystic fibrosis 10.5
44 sarcoma 10.4
45 pulmonary disease, chronic obstructive 10.4
46 interstitial lung disease 10.4
47 covid-19 10.4
48 acquired immunodeficiency syndrome 10.4
49 benign mesothelioma 10.4
50 immune deficiency disease 10.4

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:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pneumothorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002107
2 abnormality of the pleura 58 Very frequent (99-80%)
3 spontaneous pneumothorax 30 HP:0002108
4 abnormality of the respiratory system 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory Lung:
pneumothorax
subpleural blebs
bullae

Clinical features from OMIM®:

173600 (Updated 08-Dec-2022)

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


hemoptysis; dyspnea

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Cisatracurium Approved, Investigational Phase 4 96946-41-7 62887
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
7
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456 5824
8
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
9
Ranitidine Approved, Withdrawn Phase 4 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
10
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Atropine Approved, Vet_approved Phase 4 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
14
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
15 Pulmonary Surfactants Phase 4
16
Ranitidine bismuth citrate Phase 4
17 Tea Phase 4
18 Anesthetics Phase 4
19 Analgesics, Non-Narcotic Phase 4
20 Analgesics Phase 4
21 Antirheumatic Agents Phase 4
22 Cyclooxygenase Inhibitors Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Anti-Inflammatory Agents Phase 4
25
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
26
Cefazolin Approved Phase 2, Phase 3 25953-19-9 33255
27
Clindamycin Approved, Vet_approved Phase 2, Phase 3 18323-44-9, 24729-96-2 29029
28 Anti-Infective Agents Phase 2, Phase 3
29 Anti-Bacterial Agents Phase 2, Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Lactams Phase 2, Phase 3
32 Penicillins Phase 2, Phase 3
33
Clindamycin phosphate Phase 2, Phase 3 32603
34 Clindamycin palmitate Phase 2, Phase 3
35 Respiratory System Agents Phase 3
36
Iodine Approved, Investigational Phase 1, Phase 2 7553-56-2 807
37
Povidone-iodine Approved Phase 1, Phase 2 25655-41-8
38
Povidone K30 Approved, Experimental, Withdrawn Phase 1, Phase 2 9003-39-8 6917 131751496
39
Dimenhydrinate Approved Phase 1, Phase 2 523-87-5 10660
40
Cadexomer iodine Experimental Phase 1, Phase 2 94820-09-4
41 Anti-Infective Agents, Local Phase 1, Phase 2
42 Insulin, Globin Zinc Phase 2
43
Insulin Phase 2
44
Ropivacaine Approved 84057-95-4 71273 175805
45
Rocuronium Approved 119302-91-9, 143558-00-3 441290
46
Dexmedetomidine Approved, Experimental, Vet_approved 86347-14-0, 113775-47-6 68602 5311068
47
Ketamine Approved, Vet_approved 6740-88-1, 1867-66-9 3821
48
Nitrous oxide Approved, Vet_approved 10024-97-2 948
49
Sevoflurane Approved, Vet_approved 28523-86-6 5206
50
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 130)
# 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 A Comparative Study Between Thoracic Epidural Anesthesia in Non-Intubated Video-Assisted Thoracoscopes and the Conventional General Anesthesia With One Lung Ventilation Active, not recruiting NCT05077111 Phase 4
4 Local Anesthesia Versus Combined Local Anesthesia With Single Dose Analgesia on Pain Control During Thoracic Ultrasound Guided Procedures Not yet recruiting NCT05121233 Phase 4 Diclofenac;Placebo
5 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
6 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax: A Randomized Trial Unknown status NCT00418392 Phase 3
7 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
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 Phase III Study of Additional Minocycline Pleurodesis After Video-Assisted Thoracoscopic Surgery for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
10 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
11 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
12 Use of a Novel Chest Tube Insertion Device for Urgent Thoracostomy in an Emergency Department Setting Unknown status NCT03734471 Phase 3
13 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
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 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
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 KatGuide-trial. KatGuide Method Versus Conventional Method at Insertion of Chest Tube. A Randomized, Parallel Group, Controlled Trial. Completed NCT01522885 Phase 3
19 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
20 Efficacy, Safety and Re-occurrence of Pneumothorax and Hydro-pneumothorax With Talc and Pyodine Pleurodesis: A Randomized Control Trial Unknown status NCT04130451 Phase 1, Phase 2 PYODINE AND TALC SLURRY
21 Lung Deflation With Arndt® Blocker During Video-Assisted Thoracoscopy: A Comparison of the Disconnection Technique With a Continuous Bronchial Suction Completed NCT02030795 Phase 2
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 Unknown status NCT03830645 Phase 1
25 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664
26 Intrapleural Minocycline After Manual Aspiration for the Prevention of Primary Spontaneous Pneumothorax. A Phase III Multicenter Prospective Randomized Controlled Trial Unknown status NCT00839553
27 Comparison of the Analgesic Effect Between Ultrasound-Guided Serratus Anterior Plane Block and Intercostal Nerve Block After Single Port Video-Assisted Thoracoscopic Surgery in Primary Spontaneous Pneumothorax Unknown status NCT04191850
28 Primary Spontaneous Pneumothorax and Different Types of Surgical Management Unknown status NCT03804385
29 PCL (Poly-ε-caprolactone) Mesh Pleurodesis in Thoracoscopic Treatment of Primary Spontaneous Pneumothorax Unknown status NCT03227978 Early Phase 1
30 Molecular Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
31 Randomized Controlled Trial on Comparison of Chest Tube Drainage and Needle Aspiration in Treatment of Spontaneous Pneumothorax Unknown status NCT03293199
32 To Determine the Efficacy of Autologous Blood Patch Therapy in Reducing Air Leak in Secondary Spontaneous Pneumothorax: A Proof-of-Concept Study Unknown status NCT04132687
33 Are EMS Personnel Prepared to Identify and Decompression of Tension Pneumothorax: A Randomized, Crossover Manikin Trial Unknown status NCT02709122
34 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
35 Changes in Heart Rate Variability in Ventilated Patients Undergoing Tension Pneumothorax for Thoracoscopic Cervical Sympathectomy Unknown status NCT03537417
36 A Multi-site Randomized Controlled Study of Interventional Treatment of Refractory Pneumothorax by Bronchoscope Unknown status NCT02352012
37 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
38 Use of Endobronchial Ultrasound Scope (EBUS) Transducer to Identify Pneumothorax-A Feasibility Study Unknown status NCT02907866
39 Training Thoracic Ultrasound Skills: a Multicentre, Blinded, Randomized Controlled Trial of Simulation-based Training Versus Training on Healthy Figurants Unknown status NCT03728491
40 Mechanical Ventilation During Cardiac Surgery, a Randomized Controlled Trial Unknown status NCT02090205
41 A Randomized, Controlled Trial of the Use of a Dedicated Ballooned Intercostal Tube Unknown status NCT03000504
42 Suturing With U-technique Versus Un-Reapproximated Wound Edges During Removal of Closed Thoracostomy Tube Drain - A Single-centre Open-label Randomized Prospective Trial (SUTURE TRIAL) Unknown status NCT04193241
43 Improvement and Clinical Application of a New Minimally Invasive Closed Thoracic Drainage System Unknown status NCT04143360
44 Video-guided Percutaneous Tracheostomy (PCT): Evaluating the Safety, Efficacy and Simplicity of a Novel Technique Unknown status NCT01013298
45 Video-guided Percutaneous Tracheostomy (PCT): Evaluating the Safety, Efficacy and Simplicity of a Novel Technique, Compared to Conventional PCT Unknown status NCT01012518
46 Comparative Study of Single Port Thoracoscopic Bullectomy Under Nonintubated Local and Sedation Anesthesia Versus Intubated General Anesthesia for Primary Spontaneous Pneumothorax. Completed NCT02109510 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
47 Assessment of Tetracycline Pleurodesis in Prevention of Primary Spontaneous Pneumothorax Recurrence in Patients With Normal CT-scan Completed NCT03634605 Tetracycline Topical Ointment;Normal saline;Lidocaine 2% Injectable Solution
48 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
49 Simple Aspiration for Initial Management of Primary Spontaneous Pneumothorax in Children: A Multi-Center Pilot Study Completed NCT02573285
50 Intrapleural Minocycline Following Simple Aspiration for Initial Treatment of Primary Spontaneous Pneumothorax: a Retrospective Study Completed NCT00520221

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Talc

Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

# Genetic test Affiliating Genes
1 Familial Spontaneous Pneumothorax 28 FLCN

Anatomical Context for Pneumothorax, Primary Spontaneous

Organs/tissues related to Pneumothorax, Primary Spontaneous:

MalaCards : Lung, Skin, Heart, Lymph Node, Liver, Breast, Bone Marrow
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Pneumothorax, Primary Spontaneous

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 24179)
# Title Authors PMID Year
1
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 53 62 57 5
18505456 2008
2
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. 53 62 57 5
17496196 2007
3
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. 53 62 57 5
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. 62 57 5
20413710 2010
5
FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. 62 5
25126726 2014
6
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. 62 5
20522427 2010
7
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. 62 5
19562744 2009
8
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 62 5
15852235 2005
9
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 62 5
12471204 2002
10
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. 62 5
12204536 2002
11
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. 62 57
9624302 1998
12
On the inheritance of primary spontaneous pneumothorax. 62 57
1897568 1991
13
Concurrent spontaneous pneumothorax in identical twins. 62 57
3590059 1986
14
Familial spontaneous pneumothorax. 62 57
3590058 1986
15
Familial spontaneous pneumothorax and HLA antigens. 62 57
6967392 1980
16
Familial spontaneous pneumothorax. 62 57
471607 1979
17
Spontaneous pneumothorax: the sharp rib syndrome. 62 57
968792 1976
18
Familial spontaneous pneumothorax. 62 57
13432837 1957
19
Familial occurrence of pneumothorax simplex. 62 57
15418962 1950
20
Recurrent and chronic spontaneous pneumothorax. 62 57
18867168 1948
21
Birt-Hogg-Dube syndrome is a novel ciliopathy. 5
23784378 2013
22
The wrist sign. A useful physical finding in the Marfan syndrome. 57
5433066 1970
23
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 53 62
19802896 2010
24
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 53 62
19483054 2009
25
[Hereditary renal cancer]. 53 62
19418834 2009
26
Folliculin mutations are not associated with severe COPD. 53 62
19116017 2008
27
Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 53 62
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. 53 62
18234728 2008
29
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. 53 62
17611575 2008
30
Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma. 53 62
17323425 2007
31
Familial spontaneous pneumothorax. 53 62
16825879 2006
32
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. 53 62
16447066 2006
33
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 53 62
15805188 2005
34
Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. 53 62
15579035 2004
35
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. 53 62
15143337 2004
36
Robotic Bronchoscopy for the Diagnosis of Pulmonary Lesions. 62
36372527 2023
37
Point-of-care ultrasound use in emergencies: what every anaesthetist should know. 62
36449358 2023
38
Rib spur causing a hemothorax, pneumothorax, and diaphragmatic injury in a pediatric patient. 62
36388615 2023
39
Instant and Tough Adhesives for Rapid Gastric Perforation and Traumatic Pneumothorax Sealing. 62
36148602 2022
40
Low diffusion capacity of the lung predicts pneumothorax and chest drainage after CT-guided lung biopsy. 62
36457053 2022
41
Development and validation of a prediction model of pneumothorax after CT-guided coaxial core needle lung biopsy. 62
36465829 2022
42
Diagnosis of pneumothorax, non-visualized in post-anterior chest radiography, by pulmonary ultrasound. 62
36088261 2022
43
Response to letter to the editor original article: Not so FAST-chest ultrasound underdiagnoses traumatic pneumothorax. 62
35999658 2022
44
Automated pneumothorax triaging in chest X-rays in the New Zealand population using deep-learning algorithms. 62
35224858 2022
45
Routine Chest Roentgenogram After Chest Tube Removal Is Not Indicated for Minimally Invasive Lung Resection. 62
34798074 2022
46
Diagnostic value of pulmonary ultrasound in acute exacerbation of chronic obstructive pulmonary disease: A pilot study. 62
35331547 2022
47
Primary repair of a completely ruptured intermediate bronchus after blunt chest trauma. Case report. 62
33624561 2022
48
Spontaneous prevertebral emphysema following weight training in a 21-year-old female. 62
36205802 2022
49
Postnatal Imaging for Prediction of Outcome in Patients with Left-sided Congenital Diaphragmatic Hernia. 62
35944713 2022
50
A rare complication of secondary pneumothorax following exploratory laparotomy for a small bowel obstruction: Case report. 62
36473270 2022

Variations for Pneumothorax, Primary Spontaneous

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

5 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLCN NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer) DEL Pathogenic
3372 rs886037608 GRCh37: 17:17118301-17118304
GRCh38: 17:17214987-17214990
2 FLCN NM_144997.7(FLCN):c.404del (p.Pro135fs) DEL Pathogenic
3373 rs886037609 GRCh37: 17:17127450-17127450
GRCh38: 17:17224136-17224136
3 FLCN NM_144997.7(FLCN):c.1156_1175del (p.Ser386fs) DEL Pathogenic
3375 rs886037610 GRCh37: 17:17120384-17120403
GRCh38: 17:17217070-17217089
4 FLCN NM_144997.7(FLCN):c.1203dup (p.Ile402fs) DUP Pathogenic
96473 rs398124526 GRCh37: 17:17119790-17119791
GRCh38: 17:17216476-17216477
5 FLCN NM_144997.5(FLCN):c.872-?_c.1740+?del DEL Pathogenic
3379 GRCh37:
GRCh38:
6 FLCN NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) DUP Pathogenic
96493 rs398124542 GRCh37: 17:17122440-17122441
GRCh38: 17:17219126-17219127
7 FLCN NM_144997.7(FLCN):c.1285dup (p.His429fs) DUP Pathogenic
3363 rs80338682 GRCh37: 17:17119708-17119709
GRCh38: 17:17216394-17216395
8 FLCN NM_144997.7(FLCN):c.235_238del (p.Ser79fs) DEL Pathogenic
3371 rs750146811 GRCh37: 17:17131214-17131217
GRCh38: 17:17227900-17227903
9 FLCN NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) MICROSAT Pathogenic
186785 rs786203218 GRCh37: 17:17127383-17127385
GRCh38: 17:17224069-17224071
10 FLCN NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) SNV Pathogenic
161246 rs368778627 GRCh37: 17:17125815-17125815
GRCh38: 17:17222501-17222501
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.1389C>G (p.Tyr463Ter) SNV Pathogenic
3367 rs137852929 GRCh37: 17:17118542-17118542
GRCh38: 17:17215228-17215228
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 rs770795599 GRCh37: 17:17116965-17116965
GRCh38: 17:17213651-17213651
16 FLCN NM_144997.7(FLCN):c.798C>T (p.Gly266=) SNV Uncertain Significance
888616 rs2047092959 GRCh37: 17:17124924-17124924
GRCh38: 17:17221610-17221610
17 FLCN NM_144997.7(FLCN):c.-342G>A SNV Uncertain Significance
888727 rs2047601141 GRCh37: 17:17140340-17140340
GRCh38: 17:17237026-17237026
18 FLCN NM_144997.7(FLCN):c.*1101C>G SNV Uncertain Significance
889505 rs543608114 GRCh37: 17:17115868-17115868
GRCh38: 17:17212554-17212554
19 FLCN NM_144997.7(FLCN):c.*1035T>C SNV Uncertain Significance
889506 rs566019526 GRCh37: 17:17115934-17115934
GRCh38: 17:17212620-17212620
20 FLCN NM_144997.7(FLCN):c.*915G>T SNV Uncertain Significance
890168 rs1021480303 GRCh37: 17:17116054-17116054
GRCh38: 17:17212740-17212740
21 FLCN NM_144997.7(FLCN):c.*887T>C SNV Uncertain Significance
322043 rs886052657 GRCh37: 17:17116082-17116082
GRCh38: 17:17212768-17212768
22 FLCN NM_144997.7(FLCN):c.-437C>T SNV Uncertain Significance
322085 rs886052663 GRCh37: 17:17140435-17140435
GRCh38: 17:17237121-17237121
23 FLCN NM_144997.7(FLCN):c.*695_*696del DEL Uncertain Significance
322045 rs886052658 GRCh37: 17:17116273-17116274
GRCh38: 17:17212959-17212960
24 FLCN NM_144997.7(FLCN):c.871+132G>T SNV Uncertain Significance
1709707 GRCh37: 17:17124719-17124719
GRCh38: 17:17221405-17221405
25 FLCN NM_144997.7(FLCN):c.-431C>T SNV Uncertain Significance
322084 rs138847774 GRCh37: 17:17140429-17140429
GRCh38: 17:17237115-17237115
26 FLCN NM_144997.7(FLCN):c.250-7T>C SNV Uncertain Significance
322069 rs748857550 GRCh37: 17:17129643-17129643
GRCh38: 17:17226329-17226329
27 FLCN NM_144997.7(FLCN):c.1300+14C>T SNV Uncertain Significance
322063 rs200823760 GRCh37: 17:17119680-17119680
GRCh38: 17:17216366-17216366
28 FLCN NM_144997.7(FLCN):c.235T>G (p.Ser79Ala) SNV Uncertain Significance
566090 rs779733014 GRCh37: 17:17131217-17131217
GRCh38: 17:17227903-17227903
29 FLCN NM_144997.7(FLCN):c.*290C>T SNV Uncertain Significance
322058 rs886052660 GRCh37: 17:17116679-17116679
GRCh38: 17:17213365-17213365
30 FLCN NM_144997.7(FLCN):c.*846C>T SNV Uncertain Significance
890749 rs2046796611 GRCh37: 17:17116123-17116123
GRCh38: 17:17212809-17212809
31 FLCN NM_144997.7(FLCN):c.*339C>T SNV Uncertain Significance
890789 rs1312482683 GRCh37: 17:17116630-17116630
GRCh38: 17:17213316-17213316
32 FLCN NM_144997.7(FLCN):c.-65A>G SNV Uncertain Significance
890374 rs145125741 GRCh37: 17:17135148-17135148
GRCh38: 17:17231834-17231834
33 FLCN NM_144997.7(FLCN):c.*178A>C SNV Uncertain Significance
892027 rs145430714 GRCh37: 17:17116791-17116791
GRCh38: 17:17213477-17213477
34 FLCN NM_144997.7(FLCN):c.*140C>T SNV Uncertain Significance
892028 rs2046810998 GRCh37: 17:17116829-17116829
GRCh38: 17:17213515-17213515
35 FLCN NM_144997.7(FLCN):c.*29G>A SNV Uncertain Significance
892029 rs1189817112 GRCh37: 17:17116940-17116940
GRCh38: 17:17213626-17213626
36 FLCN NM_144997.7(FLCN):c.-173G>A SNV Uncertain Significance
888726 rs894893484 GRCh37: 17:17136161-17136161
GRCh38: 17:17232847-17232847
37 FLCN NM_144997.7(FLCN):c.*967T>C SNV Uncertain Significance
322039 rs886052656 GRCh37: 17:17116002-17116002
GRCh38: 17:17212688-17212688
38 FLCN NM_144997.7(FLCN):c.*224G>A SNV Uncertain Significance
322059 rs541003301 GRCh37: 17:17116745-17116745
GRCh38: 17:17213431-17213431
39 FLCN NM_144997.7(FLCN):c.-29G>A SNV Uncertain Significance
322072 rs151144873 GRCh37: 17:17135112-17135112
GRCh38: 17:17231798-17231798
40 FLCN NM_144997.7(FLCN):c.*1273C>T SNV Uncertain Significance
322035 rs886052654 GRCh37: 17:17115696-17115696
GRCh38: 17:17212382-17212382
41 FLCN NM_144997.7(FLCN):c.*1179dup DUP Uncertain Significance
322037 rs397932764 GRCh37: 17:17115789-17115790
GRCh38: 17:17212475-17212476
42 FLCN NM_144997.7(FLCN):c.617A>G (p.Lys206Arg) SNV Uncertain Significance
322067 rs886052661 GRCh37: 17:17127237-17127237
GRCh38: 17:17223923-17223923
43 FLCN NM_144997.7(FLCN):c.*1179T>A SNV Uncertain Significance
322038 rs540609895 GRCh37: 17:17115790-17115790
GRCh38: 17:17212476-17212476
44 FLCN NM_144997.7(FLCN):c.-143C>A SNV Uncertain Significance
322080 rs560968516 GRCh37: 17:17136131-17136131
GRCh38: 17:17232817-17232817
45 FLCN NM_144997.7(FLCN):c.-45A>G SNV Uncertain Significance
322073 rs571154058 GRCh37: 17:17135128-17135128
GRCh38: 17:17231814-17231814
46 FLCN NM_144997.7(FLCN):c.*340G>A SNV Uncertain Significance
322056 rs886052659 GRCh37: 17:17116629-17116629
GRCh38: 17:17213315-17213315
47 FLCN NM_144997.7(FLCN):c.*379G>A SNV Uncertain Significance
322054 rs117436649 GRCh37: 17:17116590-17116590
GRCh38: 17:17213276-17213276
48 FLCN NM_144997.7(FLCN):c.*695C>T SNV Uncertain Significance
322046 rs775700421 GRCh37: 17:17116274-17116274
GRCh38: 17:17212960-17212960
49 FLCN NM_144997.7(FLCN):c.*739C>T SNV Uncertain Significance
322044 rs558952732 GRCh37: 17:17116230-17116230
GRCh38: 17:17212916-17212916
50 FLCN NM_144997.7(FLCN):c.*333C>T SNV Uncertain Significance
322057 rs750896108 GRCh37: 17:17116636-17116636
GRCh38: 17:17213322-17213322

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

73
# Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

Expression for Pneumothorax, Primary Spontaneous

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

Pathways for Pneumothorax, Primary Spontaneous

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

# Super pathways Score Top Affiliating Genes
1 10.83 TSLP PTGDR2 IL33 IL1RL1
2 10.82 IL33 IL1RL1
3 10.46 TSLP IL33

GO Terms for Pneumothorax, Primary Spontaneous

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 8.92 PKP4 FLCN

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of inflammatory response GO:0050729 9.91 TSLP IL33 IL1RL1
2 regulation of protein phosphorylation GO:0001932 9.85 FNIP2 FNIP1 FLCN
3 positive regulation of chemokine production GO:0032722 9.8 IL1RL1 IL33 TSLP
4 TOR signaling GO:0031929 9.78 FNIP1 FLCN
5 positive regulation of macrophage activation GO:0043032 9.76 IL33 IL1RL1
6 positive regulation of interleukin-13 production GO:0032736 9.71 TSLP IL33
7 regulation of pro-B cell differentiation GO:2000973 9.56 FNIP1 FLCN
8 negative regulation of T-helper 1 type immune response GO:0002826 9.46 IL33 IL1RL1
9 interleukin-33-mediated signaling pathway GO:0038172 9.26 IL33 IL1RL1
10 positive regulation of interleukin-5 production GO:0032754 9.1 TSLP IL33 IL1RL1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase inhibitor activity GO:0042030 8.92 FNIP2 FNIP1

Sources for Pneumothorax, Primary Spontaneous

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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