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MCID: PNM010
MIFTS: 42

Pneumothorax, Primary Spontaneous

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

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MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 57 29 13 6 40 73
Spontaneous Pneumothorax 53 25 29 55 6 73
Primary Spontaneous Pneumothorax 12 53 25 75
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:
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
incomplete penetrance


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 34
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
Sources

Summaries for Pneumothorax, Primary Spontaneous

About this section
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 supranuclear palsy, progressive, 1 and parkinson-dementia syndrome, and has symptoms including dyspnea and hemoptysis. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drugs Minocycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and skin, and related phenotypes are abnormality of the pleura and pneumothorax

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.

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.

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Related Diseases for Pneumothorax, Primary Spontaneous

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 12.2
2 parkinson-dementia syndrome 11.7
3 birt-hogg-dube syndrome 11.6
4 classic progressive supranuclear palsy syndrome 11.3
5 corticobasal degeneration 11.2
6 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.0
7 progressive supranuclear palsy-corticobasal syndrome 11.0
8 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.0
9 perry syndrome 10.9
10 pancreatitis 10.3
11 pneumothorax 10.2
12 root resorption 9.9
13 multiple system atrophy 1 9.8
14 lung cancer 9.8
15 aging 9.8
16 bile duct cysts 9.8
17 diabetes mellitus 9.8
18 dentin caries 9.8
19 dementia 9.8
20 kernicterus 9.8
21 acute pancreatitis 9.8
22 cerebritis 9.8
23 kidney disease 9.8
24 neuronitis 9.8
25 dementia - subcortical 9.8
26 spasticity 9.8
27 spontaneous tension pneumothorax 9.7

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



Diseases related to Pneumothorax, Primary Spontaneous
Sources

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

About this section

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
subpleural blebs
bullae
pneumothorax


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 abnormality of the respiratory system 59 Very frequent (99-80%)
4 spontaneous pneumothorax 32 HP:0002108

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea, hemoptysis
Sources

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

About this section

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

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

Interventional clinical trials:

(show all 23)
# 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 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
7 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
8 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Recruiting NCT01848860 Phase 2, Phase 3
9 Prevalence of Spontaneous Pneumothorax in BHD Recruiting 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 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
16 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
17 Spontaneous Pneumothorax in Children Recruiting NCT02573285 Not Applicable
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 PCL (Poly-ε-caprolactone) Mesh Pleurodesis Not yet recruiting NCT03227978 Early Phase 1
23 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 :
Sources

Genetic Tests for Pneumothorax, Primary Spontaneous

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Genetic tests related to Pneumothorax, Primary Spontaneous:

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

Anatomical Context for Pneumothorax, Primary Spontaneous

About this section

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

41
Lung, Colon, Skin, Testes, Thyroid, Kidney, Bone
Sources

Publications for Pneumothorax, Primary Spontaneous

About this section

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 820)
# Title Authors Year
1
Risk of Primary Spontaneous Pneumothorax According to Chest Configuration. ( 29351696 )
2018
2
Spontaneous pneumothorax: Diagnosis may be a click away. ( 29248325 )
2018
3
Thoracoscopic Blebectomy and Pleurodesis for Primary Spontaneous Pneumothorax. ( 29450816 )
2018
4
Recurrent spontaneous pneumothorax in pregnancy - a case report and review of literature. ( 29915647 )
2018
5
Clinical features of secondary spontaneous pneumothorax complicated with silicosis. ( 29548652 )
2018
6
Birt-Hogg-DubAc syndrome: spontaneous pneumothorax as a first symptom. ( 29321196 )
2018
7
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
8
Influence of meteorological factors on the onset of primary spontaneous pneumothorax. ( 29968506 )
2018
9
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
10
Pulmonary lymphangioleiomyomatosis presenting as spontaneous pneumothorax treated with sirolimus - A case report. ( 29487252 )
2018
11
Management of primary spontaneous pneumothorax: a review. ( 29974615 )
2018
12
Atmospheric temperature and pressure influence the onset of spontaneous pneumothorax. ( 27666936 )
2018
13
Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax? ( 29411175 )
2018
14
Association of MMP-2 and MMP-9 expression with recurrences in primary spontaneous pneumothorax. ( 28088269 )
2017
15
Effectiveness of Polyglycolic Acid Sheet Covering and Platelet-Rich Plasma after Video-Assisted Thoracic Surgery for Spontaneous Pneumothorax. ( 26366888 )
2017
16
Simple aspiration versus intercostal tube drainage for primary spontaneous pneumothorax in adults. ( 28881006 )
2017
17
Birt-Hogg-DubAc syndrome: a rare cause of familial spontaneous pneumothorax. ( 28775225 )
2017
18
Birt-Hogg-DubAc Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene. ( 29124032 )
2017
19
First Spontaneous Pneumothorax: Time for Screening High-Resolution Computed Tomographic Imaging to Look for Cystic Lung Disease? ( 28035875 )
2017
20
The outcome and risk factors for recurrence and extended hospitalization of secondary spontaneous pneumothorax. ( 28905224 )
2017
21
Trends in the Management of Spontaneous Pneumothorax: A Single Center Experience. ( 29373780 )
2017
22
Prolonged air leakage in secondary spontaneous pneumothorax: is proportion of emphysema important? ( 26646622 )
2017
23
Spontaneous Pneumothorax in H1N1 Infection. ( 28598060 )
2017
24
Spontaneous pneumothorax in paracoccidioidomycosis patients from an endemic area in Midwestern Brazil. ( 27687259 )
2017
25
A clinical study of efficacy of polyglycolic acid sleeve after video-assisted thoracoscopic bullectomy for primary spontaneous pneumothorax. ( 28523164 )
2017
26
Initial primary spontaneous pneumothorax in children and adolescents: Operate or wait? ( 29361279 )
2017
27
Relationship of spontaneous pneumothorax cases seen in Eastern Black Sea region with meteorological changes. ( 28258490 )
2017
28
Spontaneous pneumothorax in diffuse cystic lung diseases. ( 28590337 )
2017
29
The feasibility and safety of thoracoscopic surgery under epidural and/or local anesthesia for spontaneous pneumothorax: a meta-analysis. ( 29062440 )
2017
30
Relationship between onset of spontaneous pneumothorax and weather conditions. ( 28874036 )
2017
31
Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax. ( 28839995 )
2017
32
[A Rare Cause of a Spontaneous Pneumothorax]. ( 28753703 )
2017
33
Recurrent bilateral spontaneous pneumothorax secondary to lung adenocarcinoma with epidermal growth factor receptor mutation. ( 27042232 )
2016
34
Another innovation in surgery for primary spontaneous pneumothorax (for men only). ( 27542625 )
2016
35
Is it possible to standardize the treatment of primary spontaneous pneumothorax? Part 2: surgical methods of treatment. ( 28096830 )
2016
36
Primary spontaneous pneumothorax: simultaneous treatment by bilateral non-intubated videothoracoscopy. ( 27165732 )
2016
37
Primary spontaneous pneumothorax due to high bleb burden. ( 27642566 )
2016
38
Spontaneous Pneumothorax Complicating Miliary Tuberculosis. ( 27876217 )
2016
39
Association Between BMI and Recurrence of Primary Spontaneous Pneumothorax. ( 27909771 )
2016
40
Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax. ( 27486260 )
2016
41
Primary Spontaneous Pneumothorax in Menstruating Women Has High Recurrence. ( 27345097 )
2016
42
Outcome and risk factors of recurrence after thoracoscopic bullectomy in young adults with primary spontaneous pneumothorax. ( 27909813 )
2016
43
Modified Chest Wall Pulley for Lung Excision during Single-Incision Thoracoscopic Surgery for Primary Spontaneous Pneumothorax. ( 27601265 )
2016
44
Study protocol for a randomised controlled trial of invasive versus conservative management of primary spontaneous pneumothorax. ( 27625060 )
2016
45
Recurrent spontaneous pneumothorax in young woman: catamenial pneumothorax. ( 27217870 )
2016
46
Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax. ( 27203581 )
2016
47
Reexpansion pulmonary edema after surgery for spontaneous pneumothorax in a patient with anorexia nervosa. ( 27158490 )
2016
48
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-DubAc syndrome in patients with primary spontaneous pneumothorax. ( 27229674 )
2016
49
Occult primary pulmonary synovial sarcoma presenting as recurrent spontaneous pneumothorax and explosive progression. ( 27995774 )
2016
50
Postoperative predictors of ipsilateral and contralateral recurrence in patients with primary spontaneous pneumothorax. ( 28066601 )
2016
Sources

Variations for Pneumothorax, Primary Spontaneous

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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 131)
# 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_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
4 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh38 Chromosome 17, 17227900: 17227903
5 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
6 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh38 Chromosome 17, 17214987: 17214990
7 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
8 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh38 Chromosome 17, 17224136: 17224136
9 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
10 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh38 Chromosome 17, 17217070: 17217089
11 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic
12 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
13 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh38 Chromosome 17, 17222501: 17222501
14 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh37 Chromosome 17, 17118285: 17118285
15 FLCN NM_144997.5(FLCN): c.1538+14T> G single nucleotide variant Benign/Likely benign rs112111994 GRCh38 Chromosome 17, 17214971: 17214971
16 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
17 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh38 Chromosome 17, 17224069: 17224071
18 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh37 Chromosome 17, 17131370: 17131370
19 FLCN NM_144997.5(FLCN): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs749758787 GRCh38 Chromosome 17, 17228056: 17228056
20 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh37 Chromosome 17, 17122536: 17122536
21 FLCN NM_144997.5(FLCN): c.872-13A> G single nucleotide variant Benign rs114970273 GRCh38 Chromosome 17, 17219222: 17219222
22 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh38 Chromosome 17, 17212473: 17212473
23 FLCN NM_144997.6(FLCN): c.*1182dup duplication Benign rs199535675 GRCh37 Chromosome 17, 17115787: 17115787
24 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh38 Chromosome 17, 17212688: 17212688
25 FLCN NM_144997.5(FLCN): c.*967T> C single nucleotide variant Uncertain significance rs886052656 GRCh37 Chromosome 17, 17116002: 17116002
26 FLCN NM_144997.5(FLCN): c.*956A> G single nucleotide variant Benign rs141650706 GRCh38 Chromosome 17, 17212699: 17212699
27 FLCN NM_144997.5(FLCN): c.*956A> G single nucleotide variant Benign rs141650706 GRCh37 Chromosome 17, 17116013: 17116013
28 FLCN NM_144997.5(FLCN): c.*425G> A single nucleotide variant Benign rs7224335 GRCh38 Chromosome 17, 17213230: 17213230
29 FLCN NM_144997.5(FLCN): c.*425G> A single nucleotide variant Benign rs7224335 GRCh37 Chromosome 17, 17116544: 17116544
30 FLCN NM_144997.5(FLCN): c.*393G> A single nucleotide variant Benign rs12602675 GRCh38 Chromosome 17, 17213262: 17213262
31 FLCN NM_144997.5(FLCN): c.*393G> A single nucleotide variant Benign rs12602675 GRCh37 Chromosome 17, 17116576: 17116576
32 FLCN NM_144997.5(FLCN): c.*224G> A single nucleotide variant Uncertain significance rs541003301 GRCh38 Chromosome 17, 17213431: 17213431
33 FLCN NM_144997.5(FLCN): c.*224G> A single nucleotide variant Uncertain significance rs541003301 GRCh37 Chromosome 17, 17116745: 17116745
34 FLCN NM_144997.5(FLCN): c.*178A> G single nucleotide variant Likely benign rs145430714 GRCh38 Chromosome 17, 17213477: 17213477
35 FLCN NM_144997.5(FLCN): c.*178A> G single nucleotide variant Likely benign rs145430714 GRCh37 Chromosome 17, 17116791: 17116791
36 FLCN NM_144997.6(FLCN): c.1430G> A (p.Arg477Gln) single nucleotide variant Uncertain significance rs748878853 GRCh38 Chromosome 17, 17215187: 17215187
37 FLCN NM_144997.6(FLCN): c.1430G> A (p.Arg477Gln) single nucleotide variant Uncertain significance rs748878853 GRCh37 Chromosome 17, 17118501: 17118501
38 FLCN NM_144997.6(FLCN): c.1281C> G (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs372207262 GRCh37 Chromosome 17, 17119713: 17119713
39 FLCN NM_144997.6(FLCN): c.1281C> G (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs372207262 GRCh38 Chromosome 17, 17216399: 17216399
40 FLCN NM_144997.6(FLCN): c.977C> T (p.Pro326Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138031155 GRCh37 Chromosome 17, 17122418: 17122418
41 FLCN NM_144997.6(FLCN): c.977C> T (p.Pro326Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138031155 GRCh38 Chromosome 17, 17219104: 17219104
42 FLCN NM_144997.5(FLCN): c.791C> T (p.Ala264Val) single nucleotide variant Uncertain significance rs372304384 GRCh37 Chromosome 17, 17124931: 17124931
43 FLCN NM_144997.5(FLCN): c.791C> T (p.Ala264Val) single nucleotide variant Uncertain significance rs372304384 GRCh38 Chromosome 17, 17221617: 17221617
44 FLCN NM_144997.5(FLCN): c.-93C> T single nucleotide variant Benign rs115413827 GRCh38 Chromosome 17, 17231862: 17231862
45 FLCN NM_144997.5(FLCN): c.-93C> T single nucleotide variant Benign rs115413827 GRCh37 Chromosome 17, 17135176: 17135176
46 FLCN NM_144997.6(FLCN): c.-97C> T single nucleotide variant Benign rs114481741 GRCh38 Chromosome 17, 17231866: 17231866
47 FLCN NM_144997.6(FLCN): c.-97C> T single nucleotide variant Benign rs114481741 GRCh37 Chromosome 17, 17135180: 17135180
48 FLCN NM_144997.5(FLCN): c.-143C> A single nucleotide variant Uncertain significance rs560968516 GRCh38 Chromosome 17, 17232817: 17232817
49 FLCN NM_144997.5(FLCN): c.-143C> A single nucleotide variant Uncertain significance rs560968516 GRCh37 Chromosome 17, 17136131: 17136131
50 FLCN NM_144997.6(FLCN): c.*1179dup duplication Uncertain significance rs886052655 GRCh38 Chromosome 17, 17212476: 17212476
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Expression for Pneumothorax, Primary Spontaneous

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

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GO Terms for Pneumothorax, Primary Spontaneous

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Sources for Pneumothorax, Primary Spontaneous

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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