PSP
MCID: PNM010
MIFTS: 54

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 57 29 13 6 40 73
Spontaneous Pneumothorax 53 25 29 55 6 73
Primary Spontaneous Pneumothorax 12 53 25 75 15
Psp 57 25 75
Familial Spontaneous Pneumothorax 53 59
Pneumothorax 25 73

Characteristics:

Orphanet epidemiological data:

59
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
pneumothorax, primary spontaneous:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 173600
Disease Ontology 12 DOID:0080218
Orphanet 59 ORPHA2903
ICD10 via Orphanet 34 J93.1
MedGen 42 C1868193
SNOMED-CT via HPO 69 263681008 36118008 80423007

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 53 Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.

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

Genetics Home Reference : 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.

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)

UniProtKB/Swiss-Prot : 75 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 323)
# Related Disease Score Top Affiliating Genes
1 pleural disease 32.2 FNIP1 FLCN
2 pneumothorax 30.2 FNIP1 FLCN BLVRA
3 birt-hogg-dube syndrome 29.7 FNIP1 FLCN
4 kidney angiomyolipoma 29.4 FNIP1 FLCN
5 aortic aneurysm 28.9 TGFBR1 FBLN5
6 supranuclear palsy, progressive, 1 12.4
7 tuberculous pneumothorax 12.4
8 spontaneous tension pneumothorax 12.3
9 pulmonary bullae causing pneumothorax 12.1
10 parkinson-dementia syndrome 11.9
11 corticobasal degeneration 11.4
12 hemopneumothorax 11.4
13 hereditary multiple osteochondromas 11.4
14 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.2
15 progressive supranuclear palsy-corticobasal syndrome 11.2
16 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.2
17 perry syndrome 11.0
18 classic progressive supranuclear palsy syndrome 11.0
19 pneumonia 10.4
20 lymphangioleiomyomatosis 10.3
21 sarcoma 10.3
22 lung disease 10.2
23 histiocytosis 10.2
24 pancreatitis 10.2
25 charles bonnet syndrome 10.2
26 langerhans cell histiocytosis 10.2
27 pleurisy 10.2
28 miliary tuberculosis 10.2
29 silicosis 10.1
30 dementia 10.1
31 dementia - subcortical 10.1
32 horner's syndrome 10.1
33 interstitial emphysema 10.1
34 bronchiolitis 10.1
35 pulmonary tuberculosis 10.1
36 pneumocystosis 10.1
37 neutrophil migration 10.0
38 root resorption 10.0
39 supranuclear ocular palsy 10.0
40 sarcoma, synovial 10.0
41 bronchiolitis obliterans 10.0
42 pulmonary fibrosis 10.0
43 pleuropulmonary blastoma 10.0
44 aspergillosis 10.0
45 pulmonary embolism 10.0
46 rheumatoid arthritis 10.0
47 small cell cancer of the lung 10.0
48 cystic fibrosis 10.0
49 pulmonary disease, chronic obstructive 10.0
50 alpha-1-antitrypsin deficiency 10.0

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



Diseases related to Pneumothorax, Primary Spontaneous

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pneumothorax
subpleural blebs
bullae


Clinical features from OMIM:

173600

Human phenotypes related to Pneumothorax, Primary Spontaneous:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pleura 59 32 hallmark (90%) Very frequent (99-80%) HP:0002103
2 pneumothorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0002107
3 spontaneous pneumothorax 32 HP:0002108
4 abnormality of the respiratory system 59 Very frequent (99-80%)

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 cardiovascular system MP:0005385 9.55 FBLN5 FLCN FNIP1 HPSE TGFBR1
2 cellular MP:0005384 9.43 BLVRA FBLN5 FLCN FNIP1 HPSE TGFBR1
3 neoplasm MP:0002006 8.92 FBLN5 FLCN FNIP1 TGFBR1

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3,Phase 2,Not Applicable 10118-90-8 5281021
2 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
3 Anti-Bacterial Agents Phase 3,Phase 2,Not Applicable
4 Anesthetics Phase 2, Phase 3,Not Applicable
5
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
6
Tetracycline Approved, Vet_approved Not Applicable 60-54-8 5353990
7
Rocuronium Approved Not Applicable 119302-91-9, 143558-00-3 441290
8 tannic acid Approved Not Applicable
9
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
10
Ketamine Approved, Vet_approved Not Applicable 6740-88-1 3821
11
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
12
Dexmedetomidine Approved, Vet_approved Not Applicable 113775-47-6 68602 5311068
13
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
14 Anesthetics, Local Not Applicable
15 Diuretics, Potassium Sparing Not Applicable
16 Central Nervous System Depressants Not Applicable
17 Pharmaceutical Solutions Not Applicable
18 Sodium Channel Blockers Not Applicable
19 Peripheral Nervous System Agents Not Applicable
20 Anti-Arrhythmia Agents Not Applicable
21 Anesthetics, General Not Applicable
22 Platelet Aggregation Inhibitors Not Applicable
23 Adrenergic Agonists Not Applicable
24 Analgesics, Non-Narcotic Not Applicable
25 Anesthetics, Dissociative Not Applicable
26 Neuromuscular Blocking Agents Not Applicable
27 Adrenergic alpha-Agonists Not Applicable
28 Excitatory Amino Acids Not Applicable
29 Analgesics Not Applicable
30 Anesthetics, Intravenous Not Applicable
31 Adrenergic Agents Not Applicable
32 Anesthetics, Inhalation Not Applicable
33 Neuromuscular Nondepolarizing Agents Not Applicable
34 Adrenergic alpha-2 Receptor Agonists Not Applicable
35 Excitatory Amino Acid Antagonists Not Applicable
36 Neurotransmitter Agents Not Applicable
37 Neuromuscular Agents Not Applicable
38 Hypnotics and Sedatives Not Applicable

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax Unknown status NCT00418392 Phase 3
3 Additional Minocycline Pleurodesis After Thoracoscopic Procedures for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
4 Pleural Abrasion Plus Minocycline Versus Apical Pleurectomy for Primary Spontaneous Pneumothorax Unknown status NCT00270751 Phase 2, Phase 3
5 Chest Tube Drainage or Thoracoscopic Surgery for Failed Aspiration of Spontaneous Pneumothorax Unknown status NCT00713362 Phase 2, Phase 3
6 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Unknown status NCT01848860 Phase 2, Phase 3
7 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
8 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
9 Prevalence of Spontaneous Pneumothorax in BHD Unknown status NCT02916992 Phase 1
10 Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
11 Comparison of Exsufflation Versus Drainage in Primary Spontaneous Pneumothorax Unknown status NCT01008228 Not Applicable
12 Intrapleural Minocycline After Aspiration of Spontaneous Pneumothorax Unknown status NCT00839553 Not Applicable
13 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664 Not Applicable
14 A Prospective Randomised Study of Efficacy, Safety and Costs of Talc Pleurodesis Under Medical Thoracoscopy and Pleurodesis Under Video-assisted Thoracoscopy Surgery for Recurrent Primary Spontaneous Pneumothorax Completed NCT00767962 Not Applicable
15 Effect of Tetracycline Pleurodesis on Prevention of Primary Spontaneous Pneumothorax Recurrence Completed NCT03634605 Not Applicable Tetracycline Topical Ointment;Normal saline;Lidocaine 2% Injectable Solution
16 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
17 Comparative Study of Nonintubated Anesthesia Versus Intubated General Anesthesia in Single Port Thoracoscopic Bullectomy Completed NCT02109510 Not Applicable nonintubated sedation anesthesia with dexmedetomidine IV, ketamine IV and intercostal nerve block with lidocaine infiltration;intubated general anesthesia with propofol IV, rocuronium IV ,sevoflurane and N2O gas
18 Study Designed to Optimize the Treatment of Primary Pneumothorax Recruiting NCT02866305 Early Phase 1 Epidural
19 Comparing Efficacy of Chest Tube Drainage and Needle Aspiration in Pneumothorax Treatment Recruiting NCT03293199 Not Applicable
20 Primary Versus Delayed Surgical Therapy for Pediatric Spontaneous Pneumothorax Recruiting NCT02449980 Not Applicable
21 Wedge Resection or Parietal Pleurectomy for the Treatment of Recurrent Pneumothorax (WOPP) Recruiting NCT01855464 Not Applicable
22 Spontaneous Pneumothorax in Children Active, not recruiting NCT02573285 Not Applicable
23 Surgical Management of Primary Spontaneous Pneumothorax Not yet recruiting NCT03804385 Not Applicable
24 Outpatient Management of Primary Spontaneous Pneumothorax: Pigtail Catheter With Unidirectional Valve vs. Exsufflation, Randomized Prospective Study Not yet recruiting NCT03691480 Not Applicable
25 PCL (Poly-ε-caprolactone) Mesh Pleurodesis Not yet recruiting NCT03227978 Early Phase 1
26 Chronic Pain After Video-assisted Thoracoscopic Surgery (VATS) Surgery for Pneumothorax Terminated NCT00969423 Not Applicable

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

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

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

41
Lung, Skin, Colon, Bone, Kidney, Thyroid, T Cells

Publications for Pneumothorax, Primary Spontaneous

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 1152)
# Title Authors Year
1
Spontaneous pneumothorax resulting in tension physiology. ( 30509377 )
2019
2
Risk of Primary Spontaneous Pneumothorax According to Chest Configuration. ( 29351696 )
2018
3
Spontaneous pneumothorax: Diagnosis may be a click away. ( 29248325 )
2018
4
Thoracoscopic Blebectomy and Pleurodesis for Primary Spontaneous Pneumothorax. ( 29450816 )
2018
5
Recurrent spontaneous pneumothorax in pregnancy - a case report and review of literature. ( 29915647 )
2018
6
Clinical features of secondary spontaneous pneumothorax complicated with silicosis. ( 29548652 )
2018
7
Birt-Hogg-DubAc syndrome: spontaneous pneumothorax as a first symptom. ( 29321196 )
2018
8
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
9
Influence of meteorological factors on the onset of primary spontaneous pneumothorax. ( 29968506 )
2018
10
Chemical pleurodesis with autologous blood and freeze-dried concentrated human thrombin improved spontaneous pneumothorax and thoracic endometriosis: The first case involving a pregnant woman. ( 29880183 )
2018
11
Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report. ( 29487252 )
2018
12
Management of primary spontaneous pneumothorax: a review. ( 29974615 )
2018
13
Atmospheric temperature and pressure influence the onset of spontaneous pneumothorax. ( 27666936 )
2018
14
Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax? ( 29411175 )
2018
15
A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. ( 30083407 )
2018
16
Pleural coccidioidomycosis presenting as spontaneous pneumothorax. ( 30061139 )
2018
17
Simultaneous Bilateral Spontaneous Pneumothorax in an Adult Patient With Pulmonary Langerhans Cell Histiocytosis: A Case Report. ( 30094268 )
2018
18
Primary spontaneous pneumothorax in conjunction with Marfan syndrome. ( 29487097 )
2018
19
High-resolution computed tomography in the management of the first episode of primary spontaneous pneumothorax: are we sure that more is better? ( 30256932 )
2018
20
Secondary spontaneous pneumothorax in patients with sarcoma treated with Pazopanib, a case control study. ( 30285733 )
2018
21
The Evolving Epidemiology and Management of Spontaneous Pneumothorax. ( 30304415 )
2018
22
Trends in the Incidence and Recurrence of Inpatient-Treated Spontaneous Pneumothorax, 1968-2016. ( 30304427 )
2018
23
There is never anything new on primary spontaneous pneumothorax-Is there? ( 30318360 )
2018
24
F/A-18 Aviator Successfully Returned to Flight After an In-Flight Spontaneous Pneumothorax. ( 30352655 )
2018
25
Predicting outcomes in primary spontaneous pneumothorax using air leak measurements. ( 30355640 )
2018
26
Air due to Glue: Spontaneous Pneumothorax in a Young Adult with Glue Sniffing. ( 30376008 )
2018
27
Comparison of additional minocycline versus iodopovidone pleurodesis during video-assisted thoracoscopic bleb resection for primary spontaneous pneumothorax: a propensity score-matched analysis. ( 30416793 )
2018
28
Consider Conservative Approach Rather Than Intervening in Moderate to Large Spontaneous Pneumothorax. ( 30454799 )
2018
29
Surgical Treatment of Spontaneous Pneumothorax: Pleural Abrasion or Pleurectomy? ( 30499890 )
2018
30
Improving the management of spontaneous pneumothorax. ( 30523206 )
2018
31
Improving the management of spontaneous pneumothorax. ( 30523207 )
2018
32
Natural history of bulla neogenesis for primary spontaneous pneumothorax: a propensity score analysis. ( 30523543 )
2018
33
Which is the Best Minimal Invasive Approach for the Treatment of Spontaneous Pneumothorax? Uniport, Two, or Three Ports: A Prospective Randomized Trail. ( 29462827 )
2018
34
Surgical treatment versus conventional chest tube drainage in primary spontaneous pneumothorax: a randomized controlled trial. ( 29509892 )
2018
35
Micro-incision thoracoscopic treatment of primary spontaneous pneumothorax: the "loop" technique. ( 29552517 )
2018
36
Spontaneous Pneumothorax in a Young Child With Pulmonary Tuberculosis. ( 29570174 )
2018
37
Effect of cannabis and tobacco on emphysema in patients with spontaneous pneumothorax. ( 29571700 )
2018
38
Pleural Coating by 50% Glucose Solution Reduces Postoperative Recurrence of Spontaneous Pneumothorax. ( 29577928 )
2018
39
Efficacy of treatments in primary spontaneous pneumothorax: A systematic review and network meta-analysis of randomized clinical trials. ( 29605200 )
2018
40
Erythromycin poudrage versus erythromycin slurry in the treatment of refractory spontaneous pneumothorax. ( 29607146 )
2018
41
Update: Is Needle Aspiration Better Than Chest Tube Placement for the Management of Primary Spontaneous Pneumothorax? ( 29615265 )
2018
42
Endobronchial valve for treatment of persistent air leak complicating spontaneous pneumothorax. ( 29622759 )
2018
43
Early Autologous Blood-Patch Pleurodesis versus Conservative Management for Treatment of Secondary Spontaneous Pneumothorax. ( 29672817 )
2018
44
Air pollutants and atmospheric pressure increased risk of ED visit for spontaneous pneumothorax. ( 29685359 )
2018
45
Covering the staple line with polyglycolic acid sheet versus oxidized regenerated cellulose mesh after thoracoscopic bullectomy for primary spontaneous pneumothorax. ( 29693221 )
2018
46
Influence of lung resection volume on risk of primary spontaneous pneumothorax recurrence. ( 29707314 )
2018
47
Expression of TGF-beta receptor 1 and Smads in the tissues of primary spontaneous pneumothorax. ( 29707331 )
2018
48
Can my patient dive after a first episode of primary spontaneous pneumothorax? A systematic review of the literature. ( 29734572 )
2018
49
Bradycardia after Tube Thoracostomy for Spontaneous Pneumothorax. ( 29755798 )
2018
50
Fixation of lung apex in spontaneous pneumothorax is safe and efficient in decrease recurrences. ( 29779908 )
2018

Variations for Pneumothorax, Primary Spontaneous

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

75
# Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh38 Chromosome 17, 17216395: 17216395
3 FLCN NM_144997.6(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh37 Chromosome 17, 17118598: 17118598
4 FLCN NM_144997.6(FLCN): c.1333G> A (p.Ala445Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41419545 GRCh38 Chromosome 17, 17215284: 17215284
5 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
6 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
7 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
8 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh38 Chromosome 17, 17214987: 17214990
9 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
10 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh38 Chromosome 17, 17224136: 17224136
11 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
12 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh38 Chromosome 17, 17217070: 17217089
13 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic
14 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh37 Chromosome 17, 17129618: 17129618
15 FLCN NM_144997.6(FLCN): c.268G> T (p.Ala90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141140415 GRCh38 Chromosome 17, 17226304: 17226304
16 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh37 Chromosome 17, 17122436: 17122436
17 FLCN NM_144997.6(FLCN): c.959G> A (p.Arg320Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143483053 GRCh38 Chromosome 17, 17219122: 17219122
18 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh37 Chromosome 17, 17118599: 17118599
19 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 GRCh38 Chromosome 17, 17215285: 17215285
20 FLCN NM_144997.6(FLCN): c.1332C> T (p.Ala444=) single nucleotide variant Benign/Likely benign rs141283741 NCBI36 Chromosome 17, 17059324: 17059324
21 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh37 Chromosome 17, 17122327: 17122327
22 FLCN NM_144997.6(FLCN): c.1062+6C> T single nucleotide variant Benign rs8065832 GRCh38 Chromosome 17, 17219013: 17219013
23 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh37 Chromosome 17, 17119761: 17119761
24 FLCN NM_144997.6(FLCN): c.1233G> A (p.Glu411=) single nucleotide variant Benign rs61750032 GRCh38 Chromosome 17, 17216447: 17216447
25 FLCN NM_144997.6(FLCN): c.397-13G> A single nucleotide variant Benign rs3744123 GRCh37 Chromosome 17, 17127470: 17127470
26 FLCN NM_144997.6(FLCN): c.397-13G> A single nucleotide variant Benign rs3744123 GRCh38 Chromosome 17, 17224156: 17224156
27 FLCN NM_144997.6(FLCN): c.397-14C> T single nucleotide variant Benign rs1736219 GRCh37 Chromosome 17, 17127471: 17127471
28 FLCN NM_144997.6(FLCN): c.397-14C> T single nucleotide variant Benign rs1736219 GRCh38 Chromosome 17, 17224157: 17224157
29 FLCN NM_144997.6(FLCN): c.726A> T (p.Thr242=) single nucleotide variant Benign rs113938514 GRCh37 Chromosome 17, 17125868: 17125868
30 FLCN NM_144997.6(FLCN): c.726A> T (p.Thr242=) single nucleotide variant Benign rs113938514 GRCh38 Chromosome 17, 17222554: 17222554
31 FLCN NM_144997.6(FLCN): c.592G> A (p.Asp198Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200168437 GRCh37 Chromosome 17, 17127262: 17127262
32 FLCN NM_144997.6(FLCN): c.592G> A (p.Asp198Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200168437 GRCh38 Chromosome 17, 17223948: 17223948
33 FLCN NM_144997.6(FLCN): c.1269C> T (p.His423=) single nucleotide variant Benign/Likely benign rs41464156 GRCh37 Chromosome 17, 17119725: 17119725
34 FLCN NM_144997.6(FLCN): c.1269C> T (p.His423=) single nucleotide variant Benign/Likely benign rs41464156 GRCh38 Chromosome 17, 17216411: 17216411
35 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
36 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh38 Chromosome 17, 17222501: 17222501
37 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh37 Chromosome 17, 17118285: 17118285
38 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh38 Chromosome 17, 17214971: 17214971
39 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
40 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh38 Chromosome 17, 17224069: 17224071
41 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh37 Chromosome 17, 17131370: 17131370
42 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh38 Chromosome 17, 17228056: 17228056
43 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh37 Chromosome 17, 17122536: 17122536
44 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh38 Chromosome 17, 17219222: 17219222
45 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh38 Chromosome 17, 17212473: 17212473
46 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh37 Chromosome 17, 17115787: 17115787
47 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh38 Chromosome 17, 17212688: 17212688
48 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh37 Chromosome 17, 17116002: 17116002
49 FLCN NM_144997.5(FLCN): c.*956A> G single nucleotide variant Benign rs141650706 GRCh38 Chromosome 17, 17212699: 17212699
50 FLCN NM_144997.5(FLCN): c.*956A> G single nucleotide variant Benign rs141650706 GRCh37 Chromosome 17, 17116013: 17116013

Expression for Pneumothorax, Primary Spontaneous

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

Pathways for Pneumothorax, Primary Spontaneous

GO Terms for Pneumothorax, Primary Spontaneous

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

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

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

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

Sources for Pneumothorax, Primary Spontaneous

3 CDC
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10 dbSNP
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