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MIFTS: 55

Pulmonary Emphysema

Categories: Respiratory diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pulmonary Emphysema

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MalaCards integrated aliases for Pulmonary Emphysema:

Name: Pulmonary Emphysema 12 54 15 37 71

Classifications:

MalaCards categories:
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:9675
ICD9CM 34 492.8
ICD10 32 J43.8
UMLS 71 C0029607 C0034067
Sources

Summaries for Pulmonary Emphysema

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MalaCards based summary : Pulmonary Emphysema is related to alpha-1-antitrypsin deficiency and cutis laxa, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Pulmonary Emphysema is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. The drugs Simvastatin and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and testes, and related phenotypes are homeostasis/metabolism and hematopoietic system

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Related Diseases for Pulmonary Emphysema

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Diseases in the Pulmonary Emphysema family:

Emphysema, Hereditary Pulmonary

Diseases related to Pulmonary Emphysema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 384)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 31.5 SLPI SERPINB1 SERPINA3 SERPINA1 MMP12 MMP1
2 cutis laxa 30.9 SERPINA1 MMP9 MMP1 ELN ELANE
3 marfan syndrome 30.8 TIMP2 MMP12 MMP1 ELN
4 proteasome-associated autoinflammatory syndrome 1 30.6 MMP9 ELANE CXCL8
5 cerebral aneurysms 30.6 ELN ELANE
6 vasculitis 30.5 SERPINB1 SERPINA3 SERPINA1 ELANE
7 pneumothorax 30.5 TIMP2 TIMP1 SERPINB1 SERPINA1 MMP9 MMP1
8 arteriosclerosis 30.5 TIMP1 MMP9 HMOX1 ELN
9 liver cirrhosis 30.4 TIMP1 SERPINA3 SERPINA1 ALB
10 status asthmaticus 30.3 MMP9 ELANE CXCL8
11 granulomatosis with polyangiitis 30.3 SERPINB1 SERPINA1 ELN ELANE
12 aortic aneurysm 30.3 TIMP2 TIMP1 MMP9 MMP12 ELN
13 bronchiectasis 30.3 SLPI SERPINA3 SERPINA1 MMP8 ELANE CXCL8
14 interstitial emphysema 30.2 SFTPD SFTPC
15 bronchitis 30.2 VEGFA SLPI SERPINB1 SERPINA1 MMP9 MMP12
16 bronchopulmonary dysplasia 30.2 TIMP1 FGF7 ELANE CXCL8
17 lymphangioleiomyomatosis 30.1 VEGFA MMP9 MMP1 ELN
18 conjunctivochalasis 29.9 TIMP2 TIMP1 MMP9 MMP1 CXCL8
19 silicosis 29.9 TIMP1 SFTPD MMP9 HMOX1 CXCL8
20 patent ductus arteriosus 1 29.9 VEGFA ELN ALB
21 portal hypertension 29.9 VEGFA ELN CXCL8 ALB
22 pulmonary hypertension 29.8 VEGFA TIMP1 SFTPC HMOX1 ELANE CXCL8
23 bronchopneumonia 29.8 SERPINA3 ELANE CXCL8 ALB
24 bronchial disease 29.8 SERPINA3 ELANE CXCL8 ALB
25 heart valve disease 29.7 SERPINA3 ELN ALB
26 meningitis 29.7 VEGFA MMP9 CXCL8 ALB
27 liver disease 29.4 SLPI SERPINA3 SERPINA1 CXCL8 ALB
28 atherosclerosis susceptibility 29.2 VEGFA MMP9 HMOX1 ELN CXCL8 ALB
29 squamous cell carcinoma, head and neck 29.2 VEGFA TIMP2 TIMP1 MMP9 MMP8 MMP1
30 chorioamnionitis 29.2 VEGFA SLPI MMP9 MMP8 MMP1 ELANE
31 extrinsic allergic alveolitis 29.1 SFTPD ELANE CXCL8 ALB
32 pulmonary fibrosis 29.1 TIMP1 SFTPD SFTPC MMP9 MMP1 FGF7
33 bronchiolitis obliterans 29.0 TIMP1 SLPI SFTPD MMP9 MMP8 CXCL8
34 periodontitis 29.0 VEGFA TIMP1 SERPINA3 MMP9 MMP8 MMP1
35 bone disease 28.9 VEGFA SLPI SERPINA3 MMP9 FGF23 CXCL8
36 newborn respiratory distress syndrome 28.9 SFTPD SFTPC FGF7 ELANE CXCL8
37 respiratory failure 28.9 TIMP1 SFTPD SFTPC SERPINA3 SERPINA1 MMP8
38 idiopathic interstitial pneumonia 28.8 VEGFA SFTPD SFTPC ELANE CXCL8
39 asthma 28.8 TIMP1 SFTPD SERPINA3 SERPINA1 MMP9 MMP12
40 myocardial infarction 28.8 VEGFA TIMP2 TIMP1 SERPINA3 MMP9 MMP1
41 interstitial lung disease 28.7 TIMP1 SFTPD SFTPC MMP9 HMOX1 CXCL8
42 adult respiratory distress syndrome 28.7 SFTPD SFTPC FGF7 ELN ELANE CXCL8
43 connective tissue disease 28.7 VEGFA SFTPD SERPINA3 ELN CXCL8 ALB
44 osteoporosis 28.6 VEGFA SLPI MMP9 MMP8 FGF23 CXCL8
45 bacterial pneumonia 28.4 SLPI SFTPD SERPINA3 ELN ELANE CXCL8
46 lung cancer susceptibility 3 28.2 VEGFA TIMP2 SFTPD SFTPC SERPINA3 SERPINA1
47 cystic fibrosis 28.1 SLPI SFTPD SFTPC SERPINA1 HMOX1 ELN
48 pulmonary disease, chronic obstructive 27.9 TIMP1 SLPI SFTPD SERPINB1 SERPINA3 SERPINA1
49 pneumonia 27.6 SLPI SFTPD SFTPC SERPINB1 SERPINA1 MMP9
50 lung disease 27.4 VEGFA SLPI SFTPD SFTPC SERPINB1 SERPINA3

Comorbidity relations with Pulmonary Emphysema via Phenotypic Disease Network (PDN):


Heart Disease

Graphical network of the top 20 diseases related to Pulmonary Emphysema:



Diseases related to Pulmonary Emphysema
Sources

Symptoms & Phenotypes for Pulmonary Emphysema

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UMLS symptoms related to Pulmonary Emphysema:


hemoptysis, snoring, coughing

MGI Mouse Phenotypes related to Pulmonary Emphysema:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ALB ELANE FGF23 FGF7 HMOX1 MMP1
2 hematopoietic system MP:0005397 10.1 ELANE FGF23 FGF7 HMOX1 MMP12 MMP9
3 immune system MP:0005387 10.06 ALB ELANE FGF23 FGF7 HMOX1 MMP1
4 neoplasm MP:0002006 9.56 ALB ELANE MMP1 MMP8 MMP9 SFTPC
5 respiratory system MP:0005388 9.28 FGF23 HMOX1 MMP12 MMP9 SERPINB1 SFTPC
Sources

Drugs & Therapeutics for Pulmonary Emphysema

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Drugs for Pulmonary Emphysema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Losartan Approved Phase 4 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
6
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Dolutegravir Approved Phase 4 1051375-16-6 54726191
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
11
Salmeterol xinafoate Phase 4 94749-08-3 56801
12 Hypolipidemic Agents Phase 4
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
14 Lipid Regulating Agents Phase 4
15 Anticholesteremic Agents Phase 4
16 Antimetabolites Phase 4
17 Parasympatholytics Phase 4
18 Cholinergic Agents Phase 4
19 Tiotropium Bromide Phase 4 136310-93-5
20 Cholinergic Antagonists Phase 4
21 Bromides Phase 4
22 Citrate Phase 4
23 Phosphodiesterase 5 Inhibitors Phase 4
24 Phosphodiesterase Inhibitors Phase 4
25 Vasodilator Agents Phase 4
26 Sildenafil Citrate Phase 4 171599-83-0
27 Angiotensin II Type 1 Receptor Blockers Phase 4
28 Angiotensinogen Phase 4
29 Angiotensin Receptor Antagonists Phase 4
30 Antihypertensive Agents Phase 4
31 Giapreza Phase 4
32 Anti-Arrhythmia Agents Phase 4
33 Anti-Infective Agents Phase 4
34 Integrase Inhibitors Phase 4
35 Reverse Transcriptase Inhibitors Phase 4
36 Anti-HIV Agents Phase 4
37 HIV Integrase Inhibitors Phase 4
38 Antiviral Agents Phase 4
39 Anti-Retroviral Agents Phase 4
40
Budesonide Approved Phase 3 51333-22-3 63006 5281004
41
Ivermectin Approved, Investigational, Vet_approved Phase 3 70288-86-7 6474909
42 Hormones Phase 3
43 Hormone Antagonists Phase 3
44 glucocorticoids Phase 3
45 Anthelmintics Phase 3
46 Abamectin Phase 3
47
Tranexamic Acid Approved Phase 2 1197-18-8 5526
48
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
49
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
50
Ibuprofen Approved Phase 2 15687-27-1 3672

Interventional clinical trials:

(show top 50) (show all 194)
# Name Status NCT ID Phase Drugs
1 Utility of the AeriSeal System in Patients With Advanced Upper Lobe Predominant Emphysema and Collateral Ventilation Assessed by the Chartis System Unknown status NCT01460108 Phase 4
2 Doxycycline and Airway Inflammation in COPD: A Randomised Placebo Controlled Trial Studying the Effects of Doxycycline on Airway Inflammation in Patients With Moderate and Severe Stable COPD. Unknown status NCT00857038 Phase 4 Doxycycline;Placebo
3 Inspiratory Capacity and HRCT Comparison of Nebulized Arformoterol (Brovana) vs. Dry-powder Inhaler Salmeterol (Serevent) Unknown status NCT01361984 Phase 4 Nebulized arformoterol;Salmeterol
4 A Multi-Center, Prospective, Clinical Trial Designed to Study the Efficacy of One-Way Valve Implantation Based on a New Treatment Algorithm in Patients With Heterogeneous Emphysema Unknown status NCT00730301 Phase 4
5 The Effects of Simvastatin in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT00680641 Phase 4 Simvastatin;Placebo
6 Efficacy of Losartan in Preventing Progression of COPD Completed NCT00720226 Phase 4 Losartan;Placebo
7 A Randomized, Placebo-Controlled, Double-Blind, Multicenter Phase III/IV Study to Compare the Efficacy and Safety of 60mg/kg Body Weight of Zemaira® Weekly I.V. Administration With Placebo Weekly I.V. Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency Completed NCT00261833 Phase 4
8 An Open-label, Non-controlled, Multicenter, Multinational Study to Evaluate the Efficacy and Safety of Zemaira® Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency Who Completed Clinical Study CE1226_4001 Completed NCT00670007 Phase 4
9 Pilot Study for Perfusion Heterogeneity: a Mechanistic Image-Based Emphysema Phenotype Completed NCT03733470 Phase 4 Sildenafil study group
10 A Two-Week, Randomized, Modified-Blind, Double-Dummy, Parallel-Group Efficacy and Safety Study of Arformoterol Tartrate Inhalation Solution Twice-Daily, Tiotropium Once-Daily, and Arformoterol Tartrate Inhalation Solution Twice-Daily and Tiotropium Once Daily in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT00424528 Phase 4 Arformoterol Tartrate Inhalation Solution;Tiotropium;Arformoterol and Tiotropium;Placebo
11 Randomised Cross-over Study to Compare the Effect of Formoterol Plus Tiotropium Versus Formoterol Monotherapy on Breathlessness, Dynamic Hyperinflation and Exercise Tolerance in Moderate-to-severe Stable COPD Patients Completed NCT00680056 Phase 4 Formoterol plus Placebo (Tiotropium);Formoterol plus Tiotropium
12 Acute Effect of Pulmonary Desufflation on Cardiac Performance in COPD Patients in Stable Conditions. Pilot Study Completed NCT01996124 Phase 4 Indacaterol Fumarate;Placebo
13 Smoking Cessation and Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated Emphysema Recruiting NCT03382106 Phase 4 Sildenafil 20 MG;Placebo Oral Tablet
14 Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated Emphysema Recruiting NCT02682147 Phase 4 Hypoxia administration study group;Hyperoxia administration study group;Sildenafil
15 Losartan Effects on Emphysema Progression Active, not recruiting NCT02696564 Phase 4 Losartan;Placebo
16 Evaluating Inflammatory and Immunological Changes of HIV-positive Patients Switching to DTG Dual Regimen Compared to Those Switching to a Triple Drugs Regimen (B/F/TAF) Not yet recruiting NCT04054089 Phase 4 Bictegravir 50 MG / Emtricitabine 200 MG / Tenofovir Alafenamide 25 MG [Biktarvy];dolutegravir 50 mg / lamivudine 300 mg
17 Collateral Ventilation Effects on Response to AeriSeal System Treatment in Upper Lobe Predominant Emphysema Terminated NCT01520740 Phase 4
18 Perforomist Versus Foradil Evaluated by Inspiratory Capacity and HRCT Withdrawn NCT00633776 Phase 4 formoterol fumarate
19 Unilateral vs. Bilateral IBV Placement Unknown status NCT00995852 Phase 2, Phase 3
20 Sequential Endoscopic Lung Volume Reduction in Patients With Heterogeneous Lung Emphysema Unknown status NCT00613860 Phase 3
21 Effect of Symbicort on Sleep Quality in Patients With Emphysema Unknown status NCT01602523 Phase 3 Budesonide/formoterol;Placebo
22 Endoscopic Lung Volume Reduction by Implantation of Endobronchial Valves (EBV) vs. Intrabronchial Valves (IBV) in Patients With Severe Heterogeneous Emphysema Unknown status NCT01457833 Phase 2, Phase 3
23 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
24 Cost-effectiveness of Lung Volume Reduction Coil Treatment in Emphysema. Unknown status NCT01822795 Phase 3
25 Bronchoscopic Volume Reduction With Valve Implants After Analysis of Interlobar Fissure Integrity and Measurement of Collateral Ventilation in Patients With Severe, Heterogeneous Emphysema Unknown status NCT01902732 Phase 2, Phase 3
26 A Randomized, Double-blind Study to Evaluate the Safety and Effectiveness of the Exhale® Drug-Eluting Stent in Homogeneous Emphysema Subjects With Severe Hyperinflation Unknown status NCT00391612 Phase 3
27 Clinical Evaluation of GW815SF for Chronic Obstructive Pulmonary Disease (Chronic Bronchitis, Emphysema)" A Long-term Treatment Study of GW815SF50/500µg in Chronic Obstructive Pulmonary Disease - Completed NCT00269087 Phase 3 fluticasone propionate/salmeterol combination DISKUS
28 A Phase II/III, Double-Blind, Randomized, Placebo-Controlled, Multicenter, International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema Completed NCT01217671 Phase 2, Phase 3
29 Multi-center, Open-label Trial to Evaluate the Safety and Tolerability of Alpha-1 MP in Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3 alpha-1 proteinase inhibitor (human)
30 Evaluation of Physiologic Parameters to Study the Mechanism of Action of the PneumRx, Inc. Lung Volume Reduction Coil (LVRC) in Subjects With Homogeneous Emphysema Completed NCT01421082 Phase 2, Phase 3
31 A Study of the AeriSeal® System Administered at 3 to 4 Sites During a Single Treatment Session for Lung Volume Reduction in Patients With Advanced Emphysema Completed NCT01181466 Phase 2, Phase 3
32 The Effect and Mechanism of Bronchoscopic Lung Volume Reduction by Endobronchial Valve in Korean Emphysema Patients Completed NCT01869205 Phase 3
33 Comparative Study of Bronchoscopic Lung Volume Reduction to Evaluate Relative Efficacy in Patients With Non-Upper Lobe Emphysema Completed NCT00825578 Phase 3
34 Multi-center, Randomized, Double-blind, Crossover Trial to Evaluate the Pharmacokinetic Comparability of Alpha-1 MP to Prolastin in Subjects With Alpha1-antitrypsin Deficiency. Completed NCT00295061 Phase 3 Alpha-1 MP;alpha-1 proteinase inhibitor (human)
35 Multicenter, Double-Blind, Double-Dummy, Randomized, Active-Controlled, Parallel Group Long-Term Safety Study of 15 μg and 25 μg Arformoterol Tartrate Inhalation Solution BID in Subjects With Chronic Obstructive Pulmonary Disease Completed NCT00250679 Phase 3 Arformoterol tartrate inhalation solution;Arformoterol 25 ųg BID;Formoterol 12 ųg BID;Placebo
36 Randomized Double-Blind Comparison of an Alpha-1 Proteinase Inhibitor (Kamada API) With a Currently Marketed API Product in Individuals With Alpha-1 Antitrypsin Deficiency Completed NCT00460096 Phase 2, Phase 3 Kamada-API
37 Endobronchial Valve for Emphysema Palliation Trial (VENT) Completed NCT00129584 Phase 3
38 National Emphysema Treatment Trial (NETT) Completed NCT00000606 Phase 3
39 A Prospective Feasibility Study to Evaluate the Safety and Performance of the Exhale(R) Drug-Eluting Stent System in Patients With Emphysema Completed NCT00207337 Phase 2, Phase 3
40 A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of Two Dose Regimens (60 mg/kg and 120 mg/kg) of Weekly Intravenous Alpha1 Proteinase Inhibitor (Human) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency Recruiting NCT01983241 Phase 3
41 An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
42 Bone Marrow-Derived Mesenchymal Stromal Cell Therapy Associated With Unidirectional Endobronchial Valve in Patients With Severe Pulmonary Emphysema: A Randomized Clinical Trial Not yet recruiting NCT04018729 Phase 2, Phase 3
43 The Effect of Nutritional Support on Gait Speed Following Hospitalisation for Acute Exacerbation of COPD Terminated NCT02261350 Phase 3
44 Study of the AeriSeal System for HyPerInflation Reduction in Emphysema (ASPIRE) Terminated NCT01449292 Phase 3
45 A Continuation Study of the AeriSeal® System Administered at 3 to 4 Sites During a Single Treatment Session for Lung Volume Reduction in Patients With Advanced Emphysema Terminated NCT01320566 Phase 2, Phase 3
46 Endobronchial Valve for Emphysema PalliatioN Trial (VENT) Cost-effectiveness Sub-Study Terminated NCT00137956 Phase 3
47 Study of the AeriSeal System Treatment in Patients With Advanced Non-Upper Lobe Predominant Heterogeneous Emphysema Withdrawn NCT01908933 Phase 3
48 Phase 3 Study of the Biologic Lung Volume Reduction (BLVR) System in Patients With Advanced Upper Lobe Predominant Emphysema Withdrawn NCT00716053 Phase 3 BLVR
49 A Feasibility and Safety Study of Bronchoscopic Intrabullous Autologous Blood Instillation for the Treatment of Severe Bullous Emphysema (BIABI Study) Unknown status NCT01727037 Phase 2
50 Lung Volume Reduction in COPD Patients With an Inhomogeneous Severe Emphysema Located in the Upper Lobes, by Injecting Warm Saline Through the Bronchoscope Channel Unknown status NCT01920321 Phase 1, Phase 2

Search NIH Clinical Center for Pulmonary Emphysema

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


Acetylcysteine
Aminophylline
aminophylline dihydrate
AMINOPHYLLINE PWDR
iodinated glycerol
Ipratropium
Ipratropium Bromide
oxtriphylline
Theophylline
Theophylline anhydrous
Theophylline calcium salicylate
Theophylline Sodium Glycinate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Emphysema cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Pulmonary Emphysema:
Bone marrow-derived mesenchymal stem cells for the treatment of pulmonary emphysema
Bone marrow-derived mononuclear cells for chronic obstructive pulmonary disease
Prochymal, mesenchymal stem cells for treatment of chronic obstructive pulmonary disease
Embryonic/Adult Cultured Cells Related to Pulmonary Emphysema:
Bone marrow-derived mesenchymal stem cells (family) PMIDs: 19691441
Bone marrow-derived mononuclear cells PMIDs: 21653527 23054962 21311694
Bone marrow-derived mesenchymal stem cells PMIDs: 23172272 21653527
Sources

Genetic Tests for Pulmonary Emphysema

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Anatomical Context for Pulmonary Emphysema

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MalaCards organs/tissues related to Pulmonary Emphysema:

40
Lung, Bone, Testes, Heart, Neutrophil, Liver, Bone Marrow
Sources

Publications for Pulmonary Emphysema

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Articles related to Pulmonary Emphysema:

(show top 50) (show all 3892)
# Title Authors PMID Year
1
Extensive Analysis of Elastase-Induced Pulmonary Emphysema in Rats: ALP in the Lung, a New Biomarker for Disease Progression? 61 54
20216950 2010
2
[Update: Alpha-1-antitrypsin deficiency. Summary of a scientific symposium at the conference of the Swiss Pneumologic Society on April 16th, 2009]. 61 54
19941265 2009
3
alpha1-Antitrypsin deficiency: best clinical practice. 54 61
19783716 2009
4
Selective MMP-12 inhibitors: WO-2008057254. 61 54
19456279 2009
5
Neutrophil elastase cleaves VEGF to generate a VEGF fragment with altered activity. 61 54
19136576 2009
6
A recombinant fragment of human surfactant protein D lacking the short collagen-like stalk fails to correct morphological alterations in lungs of SP-D deficient mice. 61 54
19177340 2009
7
Dysregulation of elastin expression by fibroblasts in pulmonary emphysema: role of cellular retinoic acid binding protein 2. 61 54
18621984 2008
8
alpha1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome: is renal involvement caused by A1AT deposition? 61 54
18793532 2008
9
Alpha-1-antitrypsin deficiency (Siiyama) as indication for lung transplantation: proper timing for surgical intervention. 61 54
18577911 2008
10
Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis. 61 54
18294358 2008
11
[Polymorphism in promoter regions of matrix metalloproteinases (MMP1, MMP9, and MMP12) in chronic obstructive pulmonary disease patients]. 61 54
18619044 2008
12
Matrix metalloproteinase expression by human alveolar macrophages in relation to emphysema. 54 61
18259971 2008
13
Premature aging in klotho mutant mice: cause or consequence? 61 54
17353153 2007
14
Rapid and inexpensive detection of alpha1-antitrypsin deficiency-related alleles S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening. 61 54
17251342 2007
15
Study of human lung elastin degradation by different elastases using high-performance liquid chromatography/mass spectrometry. 61 54
16962555 2006
16
alpha-1 antitrypsin inhibits caspase-3 activity, preventing lung endothelial cell apoptosis. 54 61
17003475 2006
17
Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema. 61 54
16126934 2005
18
Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 54 61
15955094 2005
19
Prevalence of alpha1-antitrypsin phenotypes in patients with IgA nephropathy. 61 54
15630900 2004
20
Extracellular regulated kinase/mitogen activated protein kinase is up-regulated in pulmonary emphysema and mediates matrix metalloproteinase-1 induction by cigarette smoke. 61 54
14764579 2004
21
Retinoic acid fails to reverse emphysema in adult mouse models. 54 61
14985558 2004
22
Imbalance of matrix metalloproteinase-9 and tissue inhibitor of matrix metalloproteinase-1 is associated with pulmonary emphysema in Klotho mice. 61 54
15864012 2004
23
Can exogenously administered hyaluronan improve respiratory function in patients with pulmonary emphysema? 54 61
14718453 2004
24
A recombinant fragment of human surfactant protein D reduces alveolar macrophage apoptosis and pro-inflammatory cytokines in mice developing pulmonary emphysema. 61 54
15033705 2003
25
Microsatellite polymorphism in heme oxygenase-1 gene promoter is associated with susceptibility to oxidant-induced apoptosis in lymphoblastoid cell lines. 54 61
12730098 2003
26
Emphysema due to alpha-antitrypsin deficiency: familial study of the YBARCELONA variant. 61 54
12853554 2003
27
A novel oral neutrophil elastase inhibitor (ONO-6818) inhibits human neutrophil elastase-induced emphysema in rats. 61 54
12186827 2002
28
Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults. 54 61
11905553 2002
29
Genetic polymorphisms of matrix metalloproteinases: functional importance in the development of chronic obstructive pulmonary disease? 54 61
12383023 2002
30
Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema. 54 61
11708786 2001
31
Matrix metalloproteinases and TIMPs: properties and implications for the treatment of chronic obstructive pulmonary disease. 54 61
11199097 2001
32
[The elastases]. 61 54
11723830 2001
33
Kinetics of equine neutrophil elastase release and superoxide anion generation following secretagogue activation: a potential mechanism for antiproteinase inactivation. 61 54
10628671 1999
34
A randomized clinical trial of alpha(1)-antitrypsin augmentation therapy. 54 61
10556107 1999
35
[Elastase anti-elastase imbalance in the pathogenesis of COPD]. 61 54
10497394 1999
36
Neutrophil granule proteins in bronchoalveolar lavage fluid from subjects with subclinical emphysema. 54 61
10351949 1999
37
A national program for detection of alpha 1-antitrypsin deficiency in Italy. Gruppo I.D.A. 61 54
10464873 1999
38
Inhibition of elastase-induced acute inflammation and pulmonary emphysema in hamsters by a novel neutrophil elastase inhibitor FR901277. 61 54
10219659 1999
39
Environmental correlates of impaired lung function in non-smokers with severe alpha 1-antitrypsin deficiency (PiZZ). 61 54
10193391 1998
40
Relations between cardiopulmonary exercise testing and quantitative high-resolution computed tomography associated in patients with alpha-1-antitrypsin deficiency. 61 54
9810033 1998
41
Matrix metalloproteinase-mediated extracellular matrix protein degradation in human pulmonary emphysema. 61 54
9759652 1998
42
Biochemical and pharmacological characterization of FR134043, a novel elastase inhibitor. 54 61
9592030 1998
43
Relationship of serum elastin peptide level to single breath transfer factor for carbon monoxide in French coal miners. 61 54
9516897 1997
44
Biochemical and pharmacological characterization of FK706, a novel elastase inhibitor. 54 61
9389382 1997
45
[Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel]. 54 61
9441182 1997
46
The nitrite/elastin reaction: implications for in vivo degenerative effects. 61 54
9512892 1997
47
[Metalloproteinases in the extracellular matrix: structure and activity]. 61 54
9082500 1997
48
[Neutrophil elastase and elastin-derived peptides in BAL fluid and emphysematous changes on CT scans]. 61 54
9216188 1996
49
[Study of the frequency of different phenotypes of alpha-1-antitrypsin in a population of Barcelona]. 54 61
8755448 1996
50
[Structure and expression of the human neutrophil elastase gene--regulatory mechanism and its relevance to the respiratory diseases]. 61 54
8838087 1996
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Variations for Pulmonary Emphysema

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Expression for Pulmonary Emphysema

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LifeMap Discovery
Genes differentially expressed in tissues of Pulmonary Emphysema patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 S100A12 S100 calcium binding protein A12 Lung - 3.38 0.026
2 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 Lung + 3.23 0.020
3 HLA-DOA major histocompatibility complex, class II, DO alpha Lung + 3.20 0.002
Search GEO for disease gene expression data for Pulmonary Emphysema.
Sources

Pathways for Pulmonary Emphysema

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Pathways related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.9 VEGFA TIMP2 TIMP1 SLPI SERPINB1 SERPINA3
2
GPCR Pathway 63
Show member pathways
 13.63 VEGFA TIMP2 TIMP1 MMP9 MMP8 MMP12
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.27 VEGFA TIMP1 MMP9 MMP1 HMOX1 FGF7
4
Pathways in cancer 36
12.75 VEGFA MMP9 MMP1 HMOX1 FGF7 FGF23
5
Degradation of the extracellular matrix 65
Show member pathways
 12.62 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
6
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.19 TIMP2 TIMP1 FGF7 FGF23 CXCL8
7
Colorectal Cancer Metastasis 63
12.11 VEGFA MMP9 MMP12 MMP1
8
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
12 VEGFA SERPINA1 FGF7 ALB
9
Interleukin-4 and 13 signaling 65
11.86 VEGFA TIMP1 MMP9 MMP1 HMOX1 CXCL8
10
Angiogenesis (CST) 4
11.77 TIMP2 TIMP1 MMP9 HMOX1
11
Rheumatoid arthritis 36
11.76 VEGFA MMP1 CXCL8
12
Bladder cancer 36 1
11.67 VEGFA MMP9 MMP1 CXCL8
13
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.6 VEGFA MMP9 MMP1 CXCL8
14
Matrix Metalloproteinases 1
Show member pathways
 11.5 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
15
Hepatitis C and Hepatocellular Carcinoma 1
11.48 VEGFA MMP1 CXCL8
16
Cell adhesion_ECM remodeling 22
11.42 TIMP2 TIMP1 MMP9 MMP12 MMP1 CXCL8
17
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.29 MMP9 MMP1 HMOX1 CXCL8
18
Cell adhesion_Cell-matrix glycoconjugates 22
11.25 TIMP2 MMP9 MMP1 ELN ELANE
19
IL1 and megakaryocytes in obesity 1
11.12 TIMP2 TIMP1 MMP9
20
Angiogenesis (WikiPathways) 1
11.09 VEGFA TIMP2 MMP9
21
Lung fibrosis 1
11.02 TIMP1 SFTPC SERPINA1 MMP9 HMOX1 FGF7
22
Immune response_Oncostatin M signaling via JAK-Stat in human cells 22
10.98 VEGFA TIMP1 SERPINA3 MMP1
23
G-protein signaling_Rap2B regulation pathway 22
10.95 TIMP2 TIMP1 FGF7 FGF23 ELN CXCL8
Sources

GO Terms for Pulmonary Emphysema

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Cellular components related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.89 VEGFA TIMP2 TIMP1 SLPI SFTPD SFTPC
2 extracellular matrix GO:0031012 9.86 VEGFA TIMP2 TIMP1 MMP9 MMP8 MMP12
3 collagen-containing extracellular matrix GO:0062023 9.81 TIMP2 SLPI SERPINB1 SERPINA3 SERPINA1 MMP9
4 platelet alpha granule lumen GO:0031093 9.72 VEGFA TIMP1 SERPINA3 SERPINA1 ALB
5 specific granule lumen GO:0035580 9.67 TIMP2 SLPI MMP8 ELANE
6 extracellular region GO:0005576 9.6 VEGFA TIMP2 TIMP1 SLPI SFTPD SFTPC
7 tertiary granule lumen GO:1904724 9.58 TIMP2 MMP9 MMP8

Biological processes related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.91 VEGFA TIMP1 MMP9 MMP1 HMOX1 CXCL8
2 neutrophil degranulation GO:0043312 9.86 TIMP2 SLPI SERPINB1 SERPINA3 SERPINA1 MMP9
3 extracellular matrix organization GO:0030198 9.85 MMP9 MMP8 MMP12 MMP1 ELN
4 platelet degranulation GO:0002576 9.8 VEGFA TIMP1 SERPINA3 SERPINA1 ALB
5 negative regulation of endopeptidase activity GO:0010951 9.8 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
6 collagen catabolic process GO:0030574 9.67 MMP9 MMP8 MMP12 MMP1
7 respiratory gaseous exchange GO:0007585 9.65 SFTPD SFTPC ELN
8 negative regulation of peptidase activity GO:0010466 9.63 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
9 positive regulation of keratinocyte migration GO:0051549 9.55 MMP9 FGF7
10 regulation of neuroinflammatory response GO:0150077 9.54 MMP9 MMP8
11 surfactant homeostasis GO:0043129 9.52 VEGFA SFTPD
12 negative regulation of metallopeptidase activity GO:1905049 9.51 TIMP2 TIMP1
13 cellular protein metabolic process GO:0044267 9.5 TIMP1 SFTPD SFTPC SERPINA1 MMP1 FGF23
14 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.49 TIMP2 TIMP1
15 extracellular matrix disassembly GO:0022617 9.17 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1

Molecular functions related to Pulmonary Emphysema according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.02 VEGFA SFTPD SFTPC SERPINA1 MMP9 HMOX1
2 zinc ion binding GO:0008270 9.91 TIMP2 TIMP1 MMP9 MMP8 MMP12 MMP1
3 peptidase activity GO:0008233 9.89 MMP9 MMP8 MMP12 MMP1 ELANE
4 serine-type endopeptidase activity GO:0004252 9.76 MMP9 MMP8 MMP1 ELANE
5 metallopeptidase activity GO:0008237 9.73 MMP9 MMP8 MMP12 MMP1
6 growth factor activity GO:0008083 9.71 VEGFA TIMP1 FGF7 FGF23
7 metalloendopeptidase activity GO:0004222 9.62 MMP9 MMP8 MMP12 MMP1
8 protease binding GO:0002020 9.56 TIMP2 TIMP1 SERPINA1 ELANE
9 serine-type endopeptidase inhibitor activity GO:0004867 9.46 SLPI SERPINB1 SERPINA3 SERPINA1
10 endopeptidase activity GO:0004175 9.35 MMP9 MMP8 MMP12 MMP1 ELANE
11 peptidase inhibitor activity GO:0030414 9.1 TIMP2 TIMP1 SLPI SERPINB1 SERPINA3 SERPINA1
Sources

Sources for Pulmonary Emphysema

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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