PSP
MCID: PNM010
MIFTS: 60

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 56 29 13 6 39 71
Primary Spontaneous Pneumothorax 12 52 25 73 15
Spontaneous Pneumothorax 52 25 54 6 71
Psp 56 25 73
Familial Spontaneous Pneumothorax 52 58
Pneumothorax 25 71

Characteristics:

Orphanet epidemiological data:

58
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM:

56
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:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0080218
OMIM 56 173600
ICD10 via Orphanet 33 J93.1
Orphanet 58 ORPHA2903
MedGen 41 C1868193
SNOMED-CT via HPO 68 263681008 36118008 80423007
UMLS 71 C0032326 C0149781 C1868193

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 52 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 Cells Differentiation and Th2 Differentiation. The drugs Ketamine and Nitrous oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, breast 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.

Genetics Home Reference : 25 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 : 56 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 : 73 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 795)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 FLCN CCL26
2 birt-hogg-dube syndrome 30.1 FNIP1 FLCN
3 kidney angiomyolipoma 30.0 FNIP1 FLCN
4 asthma 28.5 TSLP PTGDR2 IL33 IL1RL1 CCL26
5 spontaneous tension pneumothorax 12.8
6 supranuclear palsy, progressive, 1 12.6
7 tuberculous pneumothorax 12.6
8 pulmonary bullae causing pneumothorax 12.2
9 parkinson-dementia syndrome 12.0
10 perry syndrome 11.5
11 pulmonary fibrosis 11.5
12 dicer1 tumor predisposition 11.5
13 hereditary multiple osteochondromas 11.5
14 loeys-dietz syndrome 11.5
15 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.3
16 progressive supranuclear palsy-corticobasal syndrome 11.3
17 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.3
18 classic progressive supranuclear palsy syndrome 11.2
19 pulmonary tuberculosis 10.9
20 pneumonia 10.6
21 multiple system atrophy 1 10.5
22 corticobasal degeneration 10.5
23 pneumothorax 10.5
24 cystic fibrosis 10.5
25 pulmonary disease, chronic obstructive 10.5
26 mycobacterium tuberculosis 1 10.5
27 pleurisy 10.4
28 fibrosis of extraocular muscles, congenital, 1 10.4
29 sarcoma 10.4
30 benign mesothelioma 10.4
31 spindle cell sarcoma 10.4
32 acquired immunodeficiency syndrome 10.4
33 sarcoidosis 1 10.4
34 interstitial lung disease 10.4
35 osteogenic sarcoma 10.3
36 aspergillosis 10.3
37 silicosis 10.3
38 lung cancer 10.3
39 ataxia and polyneuropathy, adult-onset 10.3
40 frontotemporal dementia 10.3
41 bronchiectasis 10.3
42 miliary tuberculosis 10.3
43 multilocular clear cell renal cell carcinoma 10.3 FNIP1 FLCN
44 tuberous sclerosis 10.3
45 parkinson disease, late-onset 10.3
46 multiple system atrophy, parkinsonian type 10.3
47 angiosarcoma 10.3
48 leiomyoma cutis 10.3 FNIP1 FLCN
49 dermis tumor 10.3 FNIP1 FLCN
50 familial renal papillary carcinoma 10.3 FNIP1 FLCN

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 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:

56
Respiratory Lung:
pneumothorax
subpleural blebs
bullae

Clinical features from OMIM:

173600

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea, hemoptysis

MGI Mouse Phenotypes related to Pneumothorax, Primary Spontaneous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 CLN3 COL9A3 FLCN FNIP1 IL1RL1 IL33
2 immune system MP:0005387 9.28 CLN3 COL9A3 FLCN FNIP1 IL1RL1 IL33

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

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

(show top 50) (show all 221)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
9
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
10
Budesonide Approved Phase 4 51333-22-3 63006 5281004
11
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
12
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
13
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
14
Ondansetron Approved Phase 4 99614-02-5 4595
15
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
16
Methadone Approved Phase 4 76-99-3 4095
17
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
20
Racepinephrine Approved Phase 4 329-65-7 838
21
tannic acid Approved Phase 4 1401-55-4
22
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
23
Remifentanil Approved Phase 4 132875-61-7 60815
24
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
25
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
26
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
27 Sodium Channel Blockers Phase 4
28 Diuretics, Potassium Sparing Phase 4
29 Excitatory Amino Acid Antagonists Phase 4
30 Anesthetics, Dissociative Phase 4
31 Anesthetics, Inhalation Phase 4
32 Neurotransmitter Agents Phase 4
33 Methylprednisolone Acetate Phase 4
34 Anti-Anxiety Agents Phase 4
35 Psychotropic Drugs Phase 4
36 GABA Modulators Phase 4
37 Anti-Asthmatic Agents Phase 4
38 Bronchodilator Agents Phase 4
39 Amoxicillin-Potassium Clavulanate Combination Phase 4
40 beta-Lactamase Inhibitors Phase 4
41 Anesthetics, General Phase 4
42 Pulmonary Surfactants Phase 4
43 Fibrinolytic Agents Phase 4
44 Analgesics Phase 4
45 Respiratory System Agents Phase 4
46 Antitussive Agents Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Epinephryl borate Phase 4
49 Hypnotics and Sedatives Phase 4
50 Analgesics, Non-Narcotic Phase 4

Interventional clinical trials:

(show top 50) (show all 507)
# 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 Multicentre, Randomized, Clinical Trial of Noninvasive Ventilation: Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure - NINAVAPed Protocol Unknown status NCT01873521 Phase 4
4 Comparing Heated Humidified High-flow Nasal Cannula Therapy and Nasal Continuous Positive Airway Pressure (nCPAP) Ventilation Methods for the Prevention of Extubation Failure in Preterm Infants Less Than 32 Weeks' Gestational Age: Randomized Clinical Trial Unknown status NCT02887846 Phase 4
5 Randomized Comparative Study Between Single-injection , Intra- Cluster -Injection and Double-injection Ultrasound-guided Supraclavicular Block of Brachial Plexus Unknown status NCT03188939 Phase 4
6 Evaluation of Safety and Performance of the BIP Central Venous Catheter With Anti-infective Coating Completed NCT02811380 Phase 4
7 Comparative Study of Ultrasound-guided Paravertebral Block Versus Intravenous Tramadol for Postoperative Pain Control in Percutaneous Nephrolithotomy Completed NCT02412930 Phase 4 Group Tramadol;Bupivacaine
8 Impact of Aggressive Versus Standard Drainage Regimen Using a Long Term Indwelling Pleural Catheter on the Incidence of Auto-Pleurodesis in Patients With Malignant Pleural Effusions Completed NCT00978939 Phase 4
9 Onset Time of Brachial Plexus Anesthesia With the Axillary or Infraclavicular Approach Under Real-Time Ultrasound Guidance: a Randomized Controlled Trial Completed NCT00724035 Phase 4 Midazolam;Ropivacaine;Fentanyl
10 A Randomized Trial to Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates in Developing Countries Completed NCT01403623 Phase 4
11 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
12 Impact of the Serratus Plane Block in Pain and the Use of Opioids in Breast Completed NCT02905149 Phase 4
13 Comparison of Bilateral Thoracic Paravertebral Block to Thoracic Epidural Analgesia for Post Operative Analgesia in Patients Undergoing Abdominal Surgery - A Randomized Open Label Study Completed NCT01735851 Phase 4 Thoracic epidural analgesia
14 Two Different Dosages of Nebulized Steroid Versus Parenteral Steroid in the Management of COPD Exacerbations Completed NCT01865500 Phase 4 Budesonide 4 mg;Budesonide 8 mg;Metil prednisolone
15 Rescue Surfactant for Respiratory Distress Syndrome (RDS) in Newborns: Comparing Efficacy of Delivery Via Laryngeal Mask Airway to Delivery by Endotracheal Intubation Completed NCT01042600 Phase 4
16 Diaphragmatic Resection And Gynecological Ovarian Neoplasm Completed NCT03543462 Phase 4
17 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
18 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain in Patient Undergoing Diagnostic Gynacological Laproscopy. A Randomized Controlled Trial Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
19 A Parallel, Randomized Multicenter Comparison of Triple Lumen Central Venous Catheters Impregnated With Silver Nanoparticles (AgTive®) Versus Conventional Catheters in Intensive Care Unit Patients Completed NCT00337714 Phase 4
20 Use of Nitrous Oxide for Analgesia During Colonoscopy - A Randomised Trial Completed NCT00318825 Phase 4 Nitrous oxide
21 Pneumonia in Children: Aetiology, Ideal Antibiotic Duration, Quality of Life Completed NCT02258763 Phase 4 Amoxicillin-Potassium Clavulanate Combination;Placebo
22 Combined Platelet Rich Plasma Intra-articular Shoulder Injection and Stellate Ganglion Block. A New Technique for Management of Chronic Post-mastectomy Shoulder Pain Syndrome Completed NCT03586154 Phase 4 ketamine and bupivacaine injection
23 Early Intrapleural TPA Instillation Versus Late Recruiting NCT03167281 Phase 4
24 The Ultrasound-guided Multiple-injection Costotransverse Block for Mastectomy and Primary Reconstructive Surgery. A Double Blind, Randomised, Placebo Controlled Trial. Recruiting NCT04248179 Phase 4 Ropivacaine injection;Saline 0.9%;Sufentanil and PONV prophylaxis
25 Efficacy of Rescue Surfactant Delivery Via Endotracheal Intubation (INSURE Technique) Versus Laryngeal Mask Airway (LMA) for Respiratory Distress Syndrome (RDS) in Preterm Neonates Recruiting NCT02164734 Phase 4 remifentanil
26 Regional Blockade of the Sternum With Liposomal Bupivacaine Prior to Incision Decreases Opioid Use in Patients Undergoing Cardiac Surgery (Sternal Block) Recruiting NCT04333095 Phase 4 Liposomal bupivacaine;Normal Saline Flush, 0.9% Injectable Solution_#1
27 Multicentre Randomised Controlled Trial of Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on Continuous Positive Airways Pressure Active, not recruiting NCT02140580 Phase 4
28 Methadone and Interscalene Block for Shoulder Surgery Active, not recruiting NCT03084588 Phase 4 methadone
29 Study of Analgesic Efficacy of Different Kinds of Nerve Blocks on Otoplastic Surgery Not yet recruiting NCT04192708 Phase 4
30 Preoperative Controlled-Release Oxycodone or Intraoperative Morphine As Transition Opioid After Intravenous Anesthesia For Video-Assisted Thoracic Surgery: a Randomized, Double-blind, Controlled Trial. Terminated NCT00681174 Phase 4 Morphine;oxycodone;Propofol;Remifentanil;Paracetamol;Morphine
31 Pain Management After Total Shoulder Arthroplasty: Continuous Interscalene Block Versus Local Tissue Infiltration With Liposomal Bupivacaine Terminated NCT03219983 Phase 4 Ropivacaine;liposomal bupivacaine
32 Oral Corticosteroids Therapy and Interstitial Fibrosis in Patients With Pneumocystis Jirovecii Pneumonia (PCP) and pO2 of >70 at Presentation. Withdrawn NCT00636935 Phase 4 Antibiotics only;Antibiotics + Corticosteroids;Corticosteroids + antibiotics
33 Ultrasound-guided Thoracic Paravertebral Block Versus Ultrasound-guided Thoracic Erector Spinae Plane Block for Pain Management After Unilateral Total Mastectomy: a Randomized Controlled Trial Withdrawn NCT03490006 Phase 4
34 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
35 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
36 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
37 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
38 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax: A Randomized Trial Unknown status NCT00418392 Phase 3
39 Phase III Study of Additional Minocycline Pleurodesis After Video-Assisted Thoracoscopic Surgery for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
40 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
41 Prospective and Randomized Study Comparing 14 F Pigtail Catheter to Traditional 32-36F Chest Tube in the Management of Traumatic Hemothorax and Hemopneumothorax Unknown status NCT02553434 Phase 3
42 Lymphangioleiomyomatosis Efficacy and Safety Trial Unknown status NCT00414648 Phase 3 Sirolimus;Placebo sirolimus
43 Comparing of Computed Tomography Guided Microcoil Localization and Hook Wire Localization for Pulmonary Small Nodules and Ground-glass Opacity Prior to Thoracoscopic Resection Unknown status NCT02908646 Phase 3
44 Randomised Controlled Trial Comparing the Diagnostic Yield of Radial Endo-Bronchial Ultra-Sound (R-EBUS) Guided Cryo-biopsy Vs. CT-guided Transthoracic Biopsy in Patients With Parenchymal Lung Lesion, Suspected of Lung Cancer (CT-CROP) Unknown status NCT02395939 Phase 3
45 The NoTube Study: Evaluation of the Necessity of a Chest Tube After a Video-assisted Thoracoscopic Surgery Pulmonary Wedge Resection. Unknown status NCT00841750 Phase 3
46 Use of Orotracheal CPAP ( Gregory System) for Treatment of Respiratory Failure in Newborns Unknown status NCT01379820 Phase 2, Phase 3
47 Nasal Intermittent Mandatory Ventilation Versus Continuous Positive Airway Pressure After Extubation of Very Low Birth Weight Infants of the NEOCOSUR Network. Unknown status NCT01778829 Phase 3
48 Intranasal Midazolam Versus Intranasal Ketamine to Sedate Newborns for Intubation in Delivery Room. Unknown status NCT01517828 Phase 3 Sedation by ketamine;Sedation with Midazolam
49 Randomized Comparison of Cyclophosphamide Versus Fludarabine in Addition to Anti-thymocyte Globulin for the Conditioning Therapy in Allogeneic Hematopoietic Cell Transplantation for Adult Acquired Aplastic Anemia Unknown status NCT01145976 Phase 3 Cy-ATG;Flu-ATG
50 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

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 Pneumothorax, Primary Spontaneous 29 FLCN

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

40
Lung, Breast, Heart, Skin, Colon, Testes, Liver

Publications for Pneumothorax, Primary Spontaneous

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 4575)
# Title Authors PMID Year
1
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 54 61 6 56
18505456 2008
2
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. 6 61 56 54
17496196 2007
3
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. 61 6 56 54
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. 56 6
20413710 2010
5
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. 6 61
19562744 2009
6
Clinical and genetic studies of Birt-Hogg-Dubé syndrome. 61 6
12471204 2002
7
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
8
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. 61 56
9624302 1998
9
On the inheritance of primary spontaneous pneumothorax. 56 61
1897568 1991
10
Familial spontaneous pneumothorax. 61 56
3590058 1986
11
Concurrent spontaneous pneumothorax in identical twins. 56 61
3590059 1986
12
Familial spontaneous pneumothorax and HLA antigens. 61 56
6967392 1980
13
Familial spontaneous pneumothorax. 56 61
471607 1979
14
Spontaneous pneumothorax: the sharp rib syndrome. 56 61
968792 1976
15
Familial spontaneous pneumothorax. 56 61
13432837 1957
16
Recurrent and chronic spontaneous pneumothorax. 61 56
18867168 1948
17
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. 6
20522427 2010
18
The wrist sign. A useful physical finding in the Marfan syndrome. 56
5433066 1970
19
Familial occurrence of pneumothorax simplex. 56
15418962 1950
20
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. 61 54
19802896 2010
21
Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. 61 54
19483054 2009
22
[Hereditary renal cancer]. 54 61
19418834 2009
23
Folliculin mutations are not associated with severe COPD. 54 61
19116017 2008
24
Novel mutations in the folliculin gene associated with spontaneous pneumothorax. 54 61
18579543 2008
25
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. 61 54
18234728 2008
26
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. 54 61
17611575 2008
27
Identification and characterization of Birt-Hogg-Dubé associated renal carcinoma. 54 61
17323425 2007
28
Familial spontaneous pneumothorax. 61 54
16825879 2006
29
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. 61 54
16447066 2006
30
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 54 61
15805188 2005
31
Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. 61 54
15579035 2004
32
Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. 54 61
15143337 2004
33
Radiologically Guided Management of Secondary Spontaneous Pneumothorax. 61
32547671 2020
34
Pleuropulmonary Blastoma Misinterpreted as Spontaneous Pneumothorax in an Infant. 61
32305285 2020
35
Spontaneous sternal fracture during labor in a healthy primigravida with female athlete triad: A case report. 61
32435601 2020
36
Isolated Left Lower Lobe Pleuroparenchymal Fibroelastosis Presenting as Hemothorax. 61
31926159 2020
37
The results and outcome of primary spontaneous pneumothorax in adolescents. 61
32549138 2020
38
Severity of Pectus Excavatum is a Risk Factor for Primary Spontaneous Pneumothorax. 61
32040606 2020
39
Spontaneous pneumothorax and subcutaneous emphysema in COVID-19 patient: Case report. 61
32475804 2020
40
Pneumomediastinum and spontaneous pneumothorax as an extrapulmonary complication of COVID-19 disease. 61
32524296 2020
41
Pleural aspergillosis in a patient with recurrent spontaneous pneumothorax: The challenge of an optimal therapeutic approach. 61
32181124 2020
42
The Evolution of Surgical Management for Children and Young Adults With Spontaneous Pneumothorax. 61
32044510 2020
43
New options for pneumothorax management. 61
32174202 2020
44
Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome. 61
32238524 2020
45
FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome. 61
32184379 2020
46
Alpha-1-antitrypsin deficiency (AATD) and spontaneous pneumothorax: Guidelines do not recommend screening for AATD in patients with pneumothorax - What did we find in 10 years of clinical evidence? 61
32553825 2020
47
Safety of the anterior approach versus the lateral approach for chest tube insertion by residents treating spontaneous pneumothorax: a propensity score weighted analysis. 61
32519192 2020
48
Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. 61
32398304 2020
49
SARS-CoV-2 infection associated with spontaneous pneumothorax. 61
32317275 2020
50
Digital versus analogue chest drainage system in patients with primary spontaneous pneumothorax: a randomized controlled trial. 61
32393220 2020

Variations for Pneumothorax, Primary Spontaneous

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6 (show top 50) (show all 110) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLCN NM_144997.7(FLCN):c.235_238del (p.Ser79fs)deletion Pathogenic 3371 rs750146811 17:17131214-17131217 17:17227900-17227903
2 FLCN NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer)deletion Pathogenic 3372 rs886037608 17:17118301-17118304 17:17214987-17214990
3 FLCN NM_144997.7(FLCN):c.404del (p.Pro135fs)deletion Pathogenic 3373 rs886037609 17:17127450-17127450 17:17224136-17224136
4 FLCN NM_144997.7(FLCN):c.1156_1175del (p.Ser386fs)deletion Pathogenic 3375 rs886037610 17:17120384-17120403 17:17217070-17217089
5 FLCN NM_144997.5(FLCN):c.872-?_c.1740+?deldeletion Pathogenic 3379
6 FLCN NM_144997.7(FLCN):c.1285dup (p.His429fs)duplication Pathogenic 3363 rs80338682 17:17119708-17119709 17:17216394-17216395
7 FLCN NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)SNV Pathogenic 3367 rs137852929 17:17118542-17118542 17:17215228-17215228
8 FLCN NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)duplication Pathogenic 96493 rs398124542 17:17122440-17122441 17:17219126-17219127
9 FLCN NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)SNV Pathogenic 161246 rs368778627 17:17125815-17125815 17:17222501-17222501
10 FLCN NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)SNV Pathogenic 253251 rs879255678 17:17118502-17118502 17:17215188-17215188
11 FLCN NM_144997.7(FLCN):c.779+1G>TSNV Pathogenic/Likely pathogenic 231274 rs758175953 17:17125814-17125814 17:17222500-17222500
12 FLCN NM_144997.7(FLCN):c.466_468TTC[1] (p.Phe157del)short repeat Pathogenic/Likely pathogenic 186785 rs786203218 17:17127383-17127385 17:17224069-17224071
13 FLCN NM_144997.7(FLCN):c.1432+2T>CSNV Likely pathogenic 633219 rs1567807517 17:17118497-17118497 17:17215183-17215183
14 FLCN NM_144997.7(FLCN):c.1482C>T (p.Asn494=)SNV Conflicting interpretations of pathogenicity 819339 17:17118355-17118355 17:17215041-17215041
15 FLCN NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)SNV Conflicting interpretations of pathogenicity 460603 rs777826268 17:17117129-17117129 17:17213815-17213815
16 FLCN NM_144997.7(FLCN):c.708C>T (p.Asn236=)SNV Conflicting interpretations of pathogenicity 460627 rs750394475 17:17125886-17125886 17:17222572-17222572
17 FLCN NM_144997.7(FLCN):c.*4G>ASNV Conflicting interpretations of pathogenicity 888566 17:17116965-17116965 17:17213651-17213651
18 FLCN NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)SNV Conflicting interpretations of pathogenicity 134423 rs556510460 17:17131318-17131318 17:17228004-17228004
19 FLCN NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)SNV Conflicting interpretations of pathogenicity 134426 rs200168437 17:17127262-17127262 17:17223948-17223948
20 FLCN NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)SNV Conflicting interpretations of pathogenicity 3370 rs41419545 17:17118598-17118598 17:17215284-17215284
21 FLCN NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)SNV Conflicting interpretations of pathogenicity 409392 rs200660337 17:17118374-17118374 17:17215060-17215060
22 FLCN NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)SNV Conflicting interpretations of pathogenicity 41856 rs199643834 17:17118314-17118314 17:17215000-17215000
23 FLCN NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)SNV Conflicting interpretations of pathogenicity 41857 rs141140415 17:17129618-17129618 17:17226304-17226304
24 FLCN NM_144997.7(FLCN):c.135G>A (p.Ala45=)SNV Conflicting interpretations of pathogenicity 184633 rs759930161 17:17131317-17131317 17:17228003-17228003
25 FLCN NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)SNV Conflicting interpretations of pathogenicity 241926 rs143525924 17:17127302-17127302 17:17223988-17223988
26 FLCN NM_144997.7(FLCN):c.1281C>G (p.Pro427=)SNV Conflicting interpretations of pathogenicity 322064 rs372207262 17:17119713-17119713 17:17216399-17216399
27 FLCN NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)SNV Conflicting interpretations of pathogenicity 322065 rs138031155 17:17122418-17122418 17:17219104-17219104
28 FLCN NM_144997.7(FLCN):c.*178A>GSNV Conflicting interpretations of pathogenicity 322060 rs145430714 17:17116791-17116791 17:17213477-17213477
29 FLCN NM_144997.7(FLCN):c.1300+14C>TSNV Conflicting interpretations of pathogenicity 322063 rs200823760 17:17119680-17119680 17:17216366-17216366
30 FLCN NM_144997.7(FLCN):c.-45A>GSNV Conflicting interpretations of pathogenicity 322073 rs571154058 17:17135128-17135128 17:17231814-17231814
31 FLCN NM_144997.7(FLCN):c.*528G>ASNV Conflicting interpretations of pathogenicity 322049 rs184006653 17:17116441-17116441 17:17213127-17213127
32 FLCN NM_144997.7(FLCN):c.*379G>ASNV Conflicting interpretations of pathogenicity 322054 rs117436649 17:17116590-17116590 17:17213276-17213276
33 FLCN NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu)SNV Conflicting interpretations of pathogenicity 322062 rs756944795 17:17118503-17118503 17:17215189-17215189
34 FLCN NM_144997.7(FLCN):c.250-7T>CSNV Conflicting interpretations of pathogenicity 322069 rs748857550 17:17129643-17129643 17:17226329-17226329
35 FLCN NM_144997.7(FLCN):c.249+13G>CSNV Conflicting interpretations of pathogenicity 322070 rs200103733 17:17131190-17131190 17:17227876-17227876
36 FLCN NM_144997.7(FLCN):c.-29G>ASNV Conflicting interpretations of pathogenicity 322072 rs151144873 17:17135112-17135112 17:17231798-17231798
37 FLCN NM_144997.7(FLCN):c.*1273C>TSNV Uncertain significance 322035 rs886052654 17:17115696-17115696 17:17212382-17212382
38 FLCN NM_144997.7(FLCN):c.*739C>TSNV Uncertain significance 322044 rs558952732 17:17116230-17116230 17:17212916-17212916
39 FLCN NM_144997.7(FLCN):c.*333C>TSNV Uncertain significance 322057 rs750896108 17:17116636-17116636 17:17213322-17213322
40 FLCN NM_144997.7(FLCN):c.-437C>TSNV Uncertain significance 322085 rs886052663 17:17140435-17140435 17:17237121-17237121
41 FLCN NM_144997.7(FLCN):c.*340G>ASNV Uncertain significance 322056 rs886052659 17:17116629-17116629 17:17213315-17213315
42 FLCN NM_144997.7(FLCN):c.-17dupduplication Uncertain significance 322071 rs886052662 17:17131467-17131468 17:17228153-17228154
43 FLCN NM_144997.7(FLCN):c.-431C>TSNV Uncertain significance 322084 rs138847774 17:17140429-17140429 17:17237115-17237115
44 FLCN NM_144997.7(FLCN):c.617A>G (p.Lys206Arg)SNV Uncertain significance 322067 rs886052661 17:17127237-17127237 17:17223923-17223923
45 FLCN NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)SNV Uncertain significance 322068 rs369906553 17:17127318-17127318 17:17224004-17224004
46 FLCN NM_144997.7(FLCN):c.*887T>CSNV Uncertain significance 322043 rs886052657 17:17116082-17116082 17:17212768-17212768
47 FLCN NM_144997.7(FLCN):c.*695_*696deldeletion Uncertain significance 322045 rs886052658 17:17116273-17116274 17:17212959-17212960
48 FLCN NM_144997.7(FLCN):c.*695C>TSNV Uncertain significance 322046 rs775700421 17:17116274-17116274 17:17212960-17212960
49 FLCN NM_144997.7(FLCN):c.*634A>CSNV Uncertain significance 322047 rs199572622 17:17116335-17116335 17:17213021-17213021
50 FLCN NM_144997.7(FLCN):c.*224G>ASNV Uncertain significance 322059 rs541003301 17:17116745-17116745 17:17213431-17213431

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 8.62 PKP4 FLCN

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of inflammatory response GO:0050729 9.58 TSLP IL33 IL1RL1
2 positive regulation of interleukin-6 production GO:0032755 9.55 TSLP IL33
3 cell-cell junction assembly GO:0007043 9.54 PKP4 FLCN
4 positive regulation of TOR signaling GO:0032008 9.52 FNIP1 FLCN
5 negative regulation of TOR signaling GO:0032007 9.51 FNIP1 FLCN
6 negative regulation of interferon-gamma production GO:0032689 9.49 IL33 IL1RL1
7 positive regulation of macrophage activation GO:0043032 9.48 IL33 IL1RL1
8 TOR signaling GO:0031929 9.46 FNIP1 FLCN
9 positive regulation of chemokine secretion GO:0090197 9.43 IL33 IL1RL1
10 positive regulation of interleukin-13 production GO:0032736 9.37 TSLP IL33
11 negative regulation of mitochondrion organization GO:0010823 9.32 FNIP1 FLCN
12 negative regulation of T-helper 1 type immune response GO:0002826 9.26 IL33 IL1RL1
13 regulation of pro-B cell differentiation GO:2000973 9.16 FNIP1 FLCN
14 interleukin-33-mediated signaling pathway GO:0038172 8.96 IL33 IL1RL1
15 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 for Pneumothorax, Primary Spontaneous

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