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IPF
MCID: PLM134
MIFTS: 77

Pulmonary Fibrosis, Idiopathic (IPF)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Pulmonary Fibrosis, Idiopathic

About this section

MalaCards integrated aliases for Pulmonary Fibrosis, Idiopathic:

Name: Pulmonary Fibrosis, Idiopathic 56 73 13 37
Idiopathic Pulmonary Fibrosis 12 74 52 25 58 36 43 15 62 17 71
Fibrocystic Pulmonary Dysplasia 56 12 52 73
Pulmonary Fibrosis, Idiopathic, Susceptibility to 56 29 6
Idiopathic Fibrosing Alveolitis, Chronic Form 25 29 6
Cryptogenic Fibrosing Alveolitis 12 25 58
Ipf 56 25 73
Uip 56 58 73
Idiopathic Pulmonary Fibrosis, Familial 56 12
Fibrosing Alveolitis, Cryptogenic 56 52
Acute Interstitial Pneumonia 58 71
Usual Interstitial Pneumonia 25 58
Hamman-Rich Syndrome 58 71
Familial Idiopathic Pulmonary Fibrosis 52
Idiopathic Pulmonary Fibrosis Familial 73
Chronic Idiopathic Pulmonary Fibrosis 71
Interstitial Pneumonitis, Usual; Uip 56
Fibrosing Alveolitis Cryptogenic 73
Interstitial Pneumonitis, Usual 56
Fibrosis, Pulmonary, Idiopathic 39
Acute Interstitial Pneumonitis 58
Interstitial Pneumonitis Usual 73
Fibrosis Idiopathic Pulmonary 54
Fibrosing Alveolitis 52
Hamman-Rich Disease 73
Cfa 58

Characteristics:

Orphanet epidemiological data:

58
idiopathic pulmonary fibrosis
Inheritance: Multigenic/multifactorial; Age of onset: Adult;
acute interstitial pneumonia
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pulmonary fibrosis, idiopathic:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Respiratory diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0050156
OMIM 56 178500
KEGG 36 H01299
ICD9CM 34 516.31
MeSH 43 D054990
NCIt 49 C35716
SNOMED-CT 67 700250006
ICD10 32 J84.112
MESH via Orphanet 44 D054990
ICD10 via Orphanet 33 J84.1
UMLS via Orphanet 72 C0085786 C1279945 C1800706
UMLS 71 C0085786 C1279945 C1800706 more
Sources

Summaries for Pulmonary Fibrosis, Idiopathic

About this section
Genetics Home Reference : 25 Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. The most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms. In people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer. In most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.

MalaCards based summary : Pulmonary Fibrosis, Idiopathic, also known as idiopathic pulmonary fibrosis, is related to idiopathic interstitial pneumonia and pulmonary fibrosis, and has symptoms including dyspnea on exertion and dry cough. An important gene associated with Pulmonary Fibrosis, Idiopathic is SFTPA2 (Surfactant Protein A2), and among its related pathways/superpathways are Metabolism of proteins and IL-17 Family Signaling Pathways. The drugs Aztreonam and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Adipose, and related phenotypes are gastroesophageal reflux and pulmonary fibrosis

Disease Ontology : 12 A pulmonary fibrosis that is characterized by scarring of the lung.

NIH Rare Diseases : 52 Idiopathic pulmonary fibrosis (IPF) is a condition in which tissues in the lungs become thick and stiff, or scarred, over time. The lungs then lose their ability to move oxygen to the brain and other parts of the body. Common symptoms include shortness of breath and a dry, hacking cough. In some cases fibrosis happens quickly, while in others, the process is much slower. Sometimes the disease stays the same for years. The condition is 'idiopathic' because the cause is unknown. When multiple family members are affected, it is called familial IPF. Many people with this condition live for about 3-5 years after the diagnosis. The most common cause of death is respiratory failure.

OMIM : 56 Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743). Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis. (178500)

KEGG : 36 Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant.

UniProtKB/Swiss-Prot : 73 Pulmonary fibrosis, idiopathic: A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease.

PubMed Health : 62 About idiopathic pulmonary fibrosis: Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a disease in which tissue deep in your lungs becomes thick and stiff, or scarred, over time. The formation of scar tissue is called fibrosis. As the lung tissue thickens, your lungs can't properly move oxygen into your bloodstream. As a result, your brain and other organs don't get the oxygen they need. (For more information, go to the "How the Lungs Work" section of this article.) Sometimes doctors can find out what's causing fibrosis. But in most cases, they can't find a cause. They call these cases idiopathic (id-ee-o-PATH-ick) pulmonary fibrosis (IPF). IPF is a serious disease that usually affects middle-aged and older adults. IPF varies from person to person. In some people, fibrosis happens quickly. In others, the process is much slower. In some people, the disease stays the same for years. IPF has no cure yet. Many people live only about 3 to 5 years after diagnosis. The most common cause of death related to IPF is respiratory failure. Other causes of death include pulmonary hypertension (HI-per-TEN-shun), heart failure, pulmonary embolism (EM-bo-lizm), pneumonia (nu-MO-ne-ah), and lung cancer. Genetics may play a role in causing IPF. If more than one member of your family has IPF, the disease is called familial IPF. Research has helped doctors learn more about IPF. As a result, they can more quickly diagnose the disease now than in the past. Also, researchers are studying several medicines that may slow the progress of IPF. These efforts may improve the lifespan and quality of life for people who have the disease.

Wikipedia : 74 Idiopathic pulmonary fibrosis (IPF) is a type of chronic scarring lung disease characterized by a... more...

Sources

Related Diseases for Pulmonary Fibrosis, Idiopathic

About this section

Diseases related to Pulmonary Fibrosis, Idiopathic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 475)
# Related Disease Score Top Affiliating Genes
1 idiopathic interstitial pneumonia 34.5 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
2 pulmonary fibrosis 33.4 TGFB1 TERT TERC SFTPD SFTPC SFTPA2
3 lung disease 32.5 TGFB1 TERT SFTPD SFTPC SFTPA2 SFTPA1
4 interstitial lung disease 32.3 TGFB1 TERT SFTPD SFTPC MUC5B CXCL8
5 pulmonary disease, chronic obstructive 32.0 TGFB1 SFTPD MUC5B FAM13A CXCL8 CCN2
6 aplastic anemia 31.8 TGFB1 TERT TERC RTEL1 PARN CXCL8
7 bronchiolitis 31.7 SFTPD CXCL8 CCL2
8 gastroesophageal reflux 31.7 TGFB1 TERT CXCL8 CCL2
9 pneumoconiosis 31.7 TGFB1 MUC5B CXCL8 CCN2 CCL2
10 respiratory failure 31.7 SFTPD SFTPC CXCL8 ABCA3
11 pneumonia 31.7 SFTPD SFTPC PARN MUC5B CXCL8 CXCL5
12 pulmonary alveolar proteinosis 31.6 SFTPD SFTPC SFTPA1 CXCL8 CCL2
13 dyskeratosis congenita 31.5 TERT TERC STN1 RTEL1 PARN
14 nonspecific interstitial pneumonia 31.5 TGFB1 SFTPD SFTPC MUC5B CXCL5 CCL2
15 bronchiolitis obliterans 31.5 TGFB1 SFTPD CXCL8
16 silicosis 31.5 TGFB1 SFTPD CXCL8 CCL2
17 cystic fibrosis 31.5 TGFB1 SFTPD SFTPC MUC5B CXCL8
18 pulmonary sarcoidosis 31.4 SFTPD CXCL5 CCL2
19 interstitial emphysema 31.4 SFTPD SFTPC SFTPA1 ABCA3
20 viral pneumonia 31.3 SFTPD CXCL8 CCL2
21 pulmonary emphysema 31.3 SFTPD SFTPC CXCL8
22 aspergillosis 31.3 SFTPD SFTPA2 SFTPA1 CXCL8
23 lymphoid interstitial pneumonia 31.3 TGFB1 TERT TERC
24 interstitial pneumonitis, desquamative, familial 31.3 TERC SFTPD SFTPC SFTPA2 MUC5B ABCA3
25 pulmonary fibrosis, familial 31.2 TERT TERC SFTPC SFTPA2 MUC5B
26 acute interstitial pneumonia 31.2 SFTPD SFTPC SFTPA2 ABCA3
27 anthracosis 31.1 TGFB1 CCL2
28 extrinsic allergic alveolitis 31.1 SFTPD CXCL8 CXCL5 CCL2
29 adult respiratory distress syndrome 31.1 SFTPD SFTPC CXCL8
30 tuberculous meningitis 31.1 TGFB1 CXCL8 CCL2
31 cryptogenic organizing pneumonia 31.1 SFTPD SFTPC CXCL8
32 pleurisy 31.0 TGFB1 CXCL8 CCL2
33 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 30.9 TERT RTEL1
34 renal fibrosis 30.7 TGFB1 CCN2 CCL2
35 dyskeratosis congenita, autosomal dominant 1 30.2 TERT TERC
36 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.6
37 localized pulmonary fibrosis 11.2
38 newborn respiratory distress syndrome 11.0 SFTPD SFTPC SFTPA2 SFTPA1 CXCL8 ABCA3
39 pulmonary immaturity 11.0 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
40 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 11.0 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
41 middle ear disease 11.0 SFTPA2 SFTPA1 RTEL1 MUC5B CXCL8
42 otitis media 11.0 SFTPA2 SFTPA1 MUC5B CXCL8 CCL2
43 neonatal respiratory failure 11.0 SFTPD SFTPC SFTPA2 ABCA3
44 hoyeraal hreidarsson syndrome 11.0 TERT TERC RTEL1 PARN
45 chronic congestive splenomegaly 11.0 TERT SFTPC CXCL5 ABCA3
46 surfactant dysfunction 10.9 SFTPC SFTPA1 ABCA3
47 respiratory distress syndrome in premature infants 10.9 SFTPC SFTPA1 ABCA3
48 dyskeratosis congenita autosomal dominant 10.9 TERT TERC RTEL1
49 non-alcoholic steatohepatitis 10.9 TGFB1 CXCL8 CCN2 CCL2
50 melanoma, cutaneous malignant 1 10.9 TERT TERC STN1 RTEL1

Graphical network of the top 20 diseases related to Pulmonary Fibrosis, Idiopathic:



Diseases related to Pulmonary Fibrosis, Idiopathic
Sources

Symptoms & Phenotypes for Pulmonary Fibrosis, Idiopathic

About this section

Human phenotypes related to Pulmonary Fibrosis, Idiopathic:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
2 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002206
3 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
4 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
5 bronchiectasis 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002110
6 crackles 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0030830
7 clubbing of fingers 58 31 very rare (1%) Frequent (79-30%) HP:0100759
8 honeycomb lung 58 31 frequent (33%) Frequent (79-30%) HP:0025175
9 ground-glass opacification on pulmonary hrct 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0025179
10 reticular pattern on pulmonary hrct 58 31 frequent (33%) Frequent (79-30%) HP:0025390
11 pulmonary insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0010444
12 fatigue 58 Frequent (79-30%)
13 fever 58 Frequent (79-30%)
14 dyspnea 58 Very frequent (99-80%)
15 arthralgia 58 Occasional (29-5%)
16 cirrhosis 31 HP:0001394
17 pulmonary arterial hypertension 31 HP:0002092
18 pulmonary infiltrates 58 Very frequent (99-80%)
19 myalgia 58 Occasional (29-5%)
20 chest pain 58 Occasional (29-5%)
21 hypertension 58 Frequent (79-30%)
22 atelectasis 58 Occasional (29-5%)
23 respiratory failure 58 Very frequent (99-80%)
24 lymphadenopathy 58 Occasional (29-5%)
25 tachypnea 58 Frequent (79-30%)
26 hypoxemia 58 Very frequent (99-80%)
27 pneumonia 31 HP:0002090
28 cyanosis 58 Frequent (79-30%)
29 pleural effusion 58 Frequent (79-30%)
30 interstitial pulmonary abnormality 58 Very frequent (99-80%)
31 elevated c-reactive protein level 58 Occasional (29-5%)
32 elevated erythrocyte sedimentation rate 58 Occasional (29-5%)
33 pericardial effusion 58 Occasional (29-5%)
34 peripheral edema 58 Occasional (29-5%)
35 clubbing 31 HP:0001217
36 elevated serum creatinine 58 Occasional (29-5%)
37 nonproductive cough 58 Frequent (79-30%)
38 decreased dlco 58 Frequent (79-30%)
39 peribronchovascular interstitial thickening 58 Very frequent (99-80%)
40 nodular pattern on pulmonary hrct 58 Very frequent (99-80%)
41 reticulonodular pattern on pulmonary hrct 58 Very frequent (99-80%)
42 interlobular septal thickening on pulmonary hrct 58 Very frequent (99-80%)
43 subpleural honeycombing 58 Occasional (29-5%)
44 reduced hematocrit 58 Occasional (29-5%)
45 increased circulating antibody level 31 HP:0010702
46 alveolar cell carcinoma 31 HP:0006519

Symptoms via clinical synopsis from OMIM:

56
Respiratory Lung:
exertional dyspnea
cough, nonproductive
pulmonary fibrosis with fibroblast foci on histology
honeycomb fibrosis, varying in age and location
pneumonia, usual interstitial
more
Respiratory Airways:
bronchogenic carcinoma (some)

Abdomen Liver:
cirrhosis, cryptogenic

Cardiovascular Vascular:
pulmonary hypertension, severe (in end-stage disease)

Neoplasia:
bronchogenic carcinoma (some)
alveolar cell carcinoma (some)
adenocarcinoma of lung (some)

Skeletal Hands:
finger clubbing (seen in up to 50% of patients)

Clinical features from OMIM:

178500

UMLS symptoms related to Pulmonary Fibrosis, Idiopathic:


dyspnea on exertion, dry cough

MGI Mouse Phenotypes related to Pulmonary Fibrosis, Idiopathic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ABCA3 ATP11A CCN2 DPP9 DSP MUC5B
2 respiratory system MP:0005388 9.28 ABCA3 ATP11A CCN2 MUC5B SFTPA1 SFTPC
Sources

Drugs & Therapeutics for Pulmonary Fibrosis, Idiopathic

About this section

PubMed Health treatment related to Pulmonary Fibrosis, Idiopathic: 62

Doctors may prescribe medicines, oxygen therapy , pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF).

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

(show top 50) (show all 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aztreonam Approved Phase 4 78110-38-0 5742832 5362041
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
4 lysine Phase 4
5 glucocorticoids Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Hormones Phase 4
10 Hormone Antagonists Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12
Iloprost Approved, Investigational Phase 2, Phase 3 78919-13-8 6443959
13
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
14
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
15
Lenograstim Approved, Investigational Phase 3 135968-09-1
16
rituximab Approved Phase 3 174722-31-7 10201696
17
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
18
Sargramostim Approved, Investigational Phase 3 83869-56-1, 123774-72-1
19
Nintedanib Approved Phase 3 656247-17-5 56843413
20
leucovorin Approved Phase 3 58-05-9 6006 143
21
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
22
Morphine Approved, Investigational Phase 3 57-27-2 5288826
23
Azathioprine Approved Phase 3 446-86-6 2265
24
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
25
Sulfamethoxazole Approved Phase 3 723-46-6 5329
26
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
27
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
28
Angiotensin II Approved, Investigational Phase 2, Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
29
Warfarin Approved Phase 3 81-81-2 6691 54678486
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
32 Platelet Aggregation Inhibitors Phase 2, Phase 3
33 Immunologic Factors Phase 3
34 Protein Kinase Inhibitors Phase 2, Phase 3
35 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
36 Alkylating Agents Phase 3
37 Antineoplastic Agents, Immunological Phase 3
38 Immunoglobulin G Phase 3
39 Antilymphocyte Serum Phase 3
40 Analgesics, Non-Narcotic Phase 3
41 Analgesics Phase 3
42 Antirheumatic Agents Phase 3
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Vitamin B Complex Phase 3
45 Folate Phase 3
46 Vitamin B9 Phase 3
47 Adrenergic alpha-Antagonists Phase 2, Phase 3
48 Excitatory Amino Acid Antagonists Phase 2, Phase 3
49 Adrenergic Agents Phase 2, Phase 3
50 Adrenergic Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 423)
# Name Status NCT ID Phase Drugs
1 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
2 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
3 Randomized Controlled Trial of Pirfenidone in Patients With Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
4 Pirfenidone for Progressive Fibrotic Sarcoidosis Unknown status NCT03260556 Phase 4 Pirfenidone;Placebos
5 Digital Auscultation Tool - Development of an Innovative Approach - Using Modern Technologies - to Improve the Diagnosis of Rare Lung Diseases - Expanded Data Collection Idiopathic Pulmonary Fibrosis Completed NCT03503188 Phase 4
6 An Exploratory Multicenter, Open-Label, Single Arm Study of the Safety and Tolerability of Pirfenidone (Esbriet®) in Combination With Nintedanib (Ofev®) in Patients With Idiopathic Pulmonary Fibrosis Completed NCT02598193 Phase 4 Nintedanib;Pirfenidone
7 A Twelve Week, Open-label, Randomised, Parallel-group Study Evaluating Safety, Tolerability and Pharmacokinetics (PK) of Oral Nintedanib in Combination With Oral Pirfenidone, Compared to Treatment With Nintedanib Alone, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT02579603 Phase 4 Nintedanib;Pirfenidone
8 A 12-week, Double Blind, Randomised, Placebo Controlled, Parallel Group Trial Followed by a Single Active Arm Phase of 40 Weeks Evaluating the Effect of Oral Nintedanib 150 mg Twice Daily on Change in Biomarkers of Extracellular Matrix (ECM) Turnover in Patients With Idiopathic Pulmonary Fibrosis (IPF) and Limited Forced Vital Capacity (FVC) Impairment. Completed NCT02788474 Phase 4 nintedanib;placebo
9 Investigation of Drug-drug Interaction Between Nintedanib and Pirfenidone in Patients With IPF (an Open Label, Multiple-dose, Two Group Study) Completed NCT02606877 Phase 4 nintedanib;pirfenidone
10 Aztreonam Lysine for Inhalation (AZLI) in the Treatment of Early Bronchiolitis Obliterans Syndrome (BOS) After Lung Transplantation Completed NCT01469364 Phase 4 Aztreonam Lysine for Inhalation (AZLI)
11 Study of Pulmonary Rehabilitation In Nintedanib Treated Patients With IPF: Improvements in Activity, Exercise Endurance Time, and QoL Recruiting NCT03717012 Phase 4 Nintedanib
12 Randomized Open-label Study of the Impact of Prolonged Systemic Corticosteroid Therapy on the Course and Relapse Risk of Checkpoint Inhibitor Interstitial Lung Disease (Pneumonitis) Related to the Treatment of Solid Tumors With Anti-programmed-death Type 1 Receptor or Ligand Antibodies Recruiting NCT04036721 Phase 4 Prolonged glucocorticosteroid (prednisone) regimen;Short glucocorticosteroid (prednisone) regimen
13 Pragmatic Management of Progressive Disease in Idiopathic Pulmonary Fibrosis: a Randomized Trial Not yet recruiting NCT03939520 Phase 4 pirfenidone and nintedanib;pirfenidone or nintedanib
14 Employment of 68Ga-DOTA-NOC in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
15 Randomized Placebo-Controlled Study of Sildenafil For The Treatment of Pulmonary Hypertension Secondary to Idiopathic Pulmonary Fibrosis: A Pilot Study Withdrawn NCT00625079 Phase 4 sildenafil
16 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
17 Minocycline Treatment in Patients With Idiopathic Pulmonary Fibrosis Being Treated With Standard of Care Therapy- a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
18 Inhaled Iloprost in Pulmonary Hypertension Secondary to Pulmonary Fibrosis Unknown status NCT00439543 Phase 2, Phase 3 Iloprost inhalation
19 A Randomized, Double-blinded, Placebo Controlled Study to Evaluate Clinical Efficacy and Safety of Pirfenidone for Skin Fibrosis in Systemic Sclerosis Unknown status NCT03068234 Phase 2, Phase 3 Pirfenidone;Placebo oral capsule;Steroids
20 Idiopathic Pulmonary Fibrosis International Group Exploring NAC I Annual Study of the Effects of High-dose N-acetylcysteine (NAC) in Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00639496 Phase 3 n-acetylcysteine;placebo
21 INSTAGE: A 24-week, Double-blind, Randomized, Parallel-group Study Evaluating the Efficacy and Safety of Oral Nintedanib Co-administered With Oral Sildenafil, Compared to Treatment With Nintedanib Alone, in Patients With Idiopathic Pulmonary Fibrosis (IPF) and Advanced Lung Function Impairment Completed NCT02802345 Phase 3 Nintedanib;Placebo;Sildenafil
22 A Double-Blind, Placebo-Controlled, Randomized Study of the Efficacy (Gleevec Imatinib Mesylate) in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00131274 Phase 2, Phase 3 Imatinib Mesylate (Gleevec)
23 Local Open-label Multicenter Study to Assess the Effectiveness of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis in Russian Clinical Practice Completed NCT03208933 Phase 3 Pirfenidone
24 A Randomized, Double-Blind, Placebo-Controlled, Phase III Study of the Safety and Efficacy of Subcutaneous Recombinant Interferon-Gamma 1b in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00047645 Phase 3 Interferon-gamma 1b
25 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
26 Effects of Bosentan on Morbidity and Mortality in Patients With Idiopathic Pulmonary Fibrosis - a Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Event-driven, Group Sequential, Phase III Study. Completed NCT00391443 Phase 3 Bosentan;Placebo
27 A Randomized, Double-Blind, Placebo Controlled, Phase 3 Study of the Efficacy and Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (ASCEND Trial) Completed NCT01366209 Phase 3 Pirfenidone;Placebo
28 Phase III Clinical Study of ART-123 for the Treatment of Acute Exacerbation of Idiopathic Pulmonary Fibrosis: a Multicenter Randomized Placebo-controlled Double-blind Study to Assess the Efficacy and Safety of ART-123 Completed NCT02739165 Phase 3 ART-123;Placebo
29 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety, and Tolerability of Bosentan in Patients With Idiopathic Pulmonary Fibrosis, Open Label Extension Completed NCT00071461 Phase 2, Phase 3 bosentan;Placebo
30 A Randomized, Double-Blind, Placebo Controlled, Phase 3 Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287729 Phase 3 Pirfenidone;Placebo
31 A Randomized, Double-Blind, Placebo Controlled, Phase 3, Three-Arm Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287716 Phase 3 Pirfenidone;Placebo
32 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
33 A Six Month Double Blind Randomized Placebo Controlled Trial Followed by Each Arm Being Converted to Oral Nintedanib 150 mg Twice Daily Comparing the Effect on High Resolution Computerized Tomography Quantitative Lung Fibrosis Score, Lung Function, Six Minute Walk Test Distance and St. George's Respiratory Questionnaire After Six Months of Treatment in Patients With Idiopathic Pulmonary Fibrosis With Continued Evaluations Over a Period of up to Eighteen Months Completed NCT01979952 Phase 3 Matching Placebo;Nintedanib
34 A 52 Weeks, Double Blind, Randomized, Placebo-controlled Trial Evaluating the Effect of Oral BIBF 1120, 150 mg Twice Daily, on Annual Forced Vital Capacity Decline, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01335477 Phase 3 placebo;BIBF 1120
35 A 52 Weeks, Double Blind, Randomized, Placebo-controlled Trial Evaluating the Effect of Oral BIBF 1120, 150 mg Twice Daily, on Annual Forced Vital Capacity Decline, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01335464 Phase 3 placebo;BIBF 1120
36 Cyclophosphamide Added to Corticosteroid in the Treatment of Acute Exacerbation of Idiopathic Pulmonary Fibrosis: a Placebo-controlled Randomized Trial Completed NCT02460588 Phase 3 Cyclophosphamide;Placebo;Corticosteroid (prednisolone)
37 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3 Sildenafil Citrate
38 A Double-Blind, Placebo-Controlled, Multicenter, Dose-Ranging Study of an Anti-human-T-lymphocyte Immune Globulin (EZ-2053) in the Prophylaxis of Acute Pulmonary Allograft Rejection in Adult Recipients of Primary Pulmonary Allograft(s) Completed NCT00105183 Phase 3
39 Treatment of Chronic Cough in Idiopathic Pulmonary Fibrosis With Thalidomide Completed NCT00600028 Phase 3 Thalidomide;Placebo
40 Prednisone, Azathioprine, and N-acetylcysteine: A Study That Evaluates Response in IPF Completed NCT00650091 Phase 3 N-acetylcysteine (NAC);Placebo
41 A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Assess the Efficacy, Safety and Tolerability of Bosentan in Patients With Interstitial Lung Disease Associated With Systemic Sclerosis Completed NCT00070590 Phase 2, Phase 3 Bosentan
42 A Double Blind Randomized Control Trial of Tadalafil in Interstitial Lung Disease of Scleroderma Completed NCT01553981 Phase 3 Tadalafil;Placebo
43 Rituximab for the Treatment of Rheumatoid Arthritis-Associated Interstitial Pneumonia: A Pilot Study Completed NCT00578565 Phase 3 Rituximab
44 Pharmacokinetics of Mycophenolate Mofetil in de Novo Lung Allograft Recipients Completed NCT01014442 Phase 3 mycophenolate mofetil
45 A Double Blind, Randomized, Placebo-controlled Trial Evaluating the Efficacy and Safety of Nintedanib Over 52 Weeks in Patients With Progressive Fibrosing Interstitial Lung Disease (PF-ILD) Completed NCT02999178 Phase 3 Nintedanib;Placebo
46 A Double Blind, Randomised, Placebo-controlled Trial Evaluating Efficacy and Safety of Oral Nintedanib Treatment for at Least 52 Weeks in Patients With Systemic Sclerosis Associated Interstitial Lung Disease (SSc-ILD) Completed NCT02597933 Phase 3 Nintedanib;Placebo
47 High Dose Cyclophosphamide for Treatment of Systemic Sclerosis (Scleroderma) Completed NCT00501995 Phase 3 IV Cyclophosphamide
48 A Phase 3, Randomized, Double-blind, Parallel-group, Placebo-controlled Multicenter Study to Evaluate the Efficacy and Safety of Two Doses of GLPG1690 in Addition to Local Standard of Care for Minimum 52 Weeks in Subjects With Idiopathic Pulmonary Fibrosis Recruiting NCT03711162 Phase 3 GLPG1690;Placebo
49 A Phase 3, Randomized, Double-blind, Parallel-group, Placebo-controlled, Multi-center Study to Evaluate the Efficacy and Safety of Two Doses of GLPG1690 in Addition to Local Standard of Care for Minimum 52 Weeks in Subjects With Idiopathic Pulmonary Fibrosis Recruiting NCT03733444 Phase 3 GLPG1690;Placebo
50 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Pamrevlumab in Subjects With Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT03955146 Phase 3 Pamrevlumab;Placebo

Search NIH Clinical Center for Pulmonary Fibrosis, Idiopathic

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


nintedanib

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Fibrosis, Idiopathic cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Pulmonary Fibrosis, Idiopathic:
Mesenchymal stem cells for idiopathic pulmonary fibrosis
Mesenchymal stem cells for lung fibrosis
StemGenex, adipose-derived stem cells for idiopathic pulmonary fibrosis
Embryonic/Adult Cultured Cells Related to Pulmonary Fibrosis, Idiopathic:
Placenta-derived mesenchymal stem cells (family)
Mouse bone marrow-derived mesenchymal stem cells (family) PMIDs: 20801416 17569781 18625757
Adipose-derived stem cells (StemGenex) PMIDs: 23855653 22017817

Cochrane evidence based reviews: idiopathic pulmonary fibrosis

Sources

Genetic Tests for Pulmonary Fibrosis, Idiopathic

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Genetic tests related to Pulmonary Fibrosis, Idiopathic:

# Genetic test Affiliating Genes
1 Idiopathic Fibrosing Alveolitis, Chronic Form 29 MUC5B SFTPA2 SFTPC TERT
2 Pulmonary Fibrosis, Idiopathic, Susceptibility to 29
Sources

Anatomical Context for Pulmonary Fibrosis, Idiopathic

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MalaCards organs/tissues related to Pulmonary Fibrosis, Idiopathic:

40
Lung, Testes, Heart, Bone, Brain, Neutrophil, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pulmonary Fibrosis, Idiopathic:
# Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
3 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate
Sources

Publications for Pulmonary Fibrosis, Idiopathic

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Articles related to Pulmonary Fibrosis, Idiopathic:

(show top 50) (show all 8261)
# Title Authors PMID Year
1
MUC5B promoter polymorphism and interstitial lung abnormalities. 56 61 6
23692170 2013
2
A common MUC5B promoter polymorphism and pulmonary fibrosis. 61 6 56
21506741 2011
3
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 6 56 61
21506748 2011
4
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 6 56 61
19100526 2009
5
Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 56 6 61
13680361 2003
6
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. 61 6
30345907 2018
7
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 61 6
25848748 2015
8
Prostaglandin F(2alpha) receptor signaling facilitates bleomycin-induced pulmonary fibrosis independently of transforming growth factor-beta. 56 61
19966781 2009
9
MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility. 56 61
19363685 2009
10
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 56 61
18753630 2008
11
The lysophosphatidic acid receptor LPA1 links pulmonary fibrosis to lung injury by mediating fibroblast recruitment and vascular leak. 61 56
18066075 2008
12
Caveolin-1: a critical regulator of lung fibrosis in idiopathic pulmonary fibrosis. 56 61
17178917 2006
13
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. 61 56
16773575 2006
14
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. 61 56
16133177 2005
15
Pulmonary Fibrosis, Familial 61 6
20301408 2005
16
Idiopathic pulmonary fibrosis. 56 61
11519507 2001
17
Hamman-Rich syndrome revisited. 61 56
2255216 1990
18
Platelet-derived growth factor in idiopathic pulmonary fibrosis. 56 61
2170444 1990
19
Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members. 61 56
3702942 1986
20
Familial lung disease associated with proliferation and desquamation of type II pneumonocytes. 56 61
3946361 1986
21
Idiopathic pulmonary fibrosis in monozygotic twins. The importance of genetic predisposition. 56 61
7191366 1980
22
Collagenase in the lower respiratory tract of patients with idiopathic pulmonary fibrosis. 61 56
225666 1979
23
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS. A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 56
14338292 1965
24
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS: A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 56
14275423 1964
25
Rare variants in RTEL1 are associated with familial interstitial pneumonia. 6
25607374 2015
26
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 6
23453664 2013
27
Angiotensin-converting enzyme 2 protects from severe acute lung failure. 56
16001071 2005
28
Circulating fibrocytes traffic to the lungs in response to CXCL12 and mediate fibrosis. 56
15286810 2004
29
Bone marrow-derived progenitor cells in pulmonary fibrosis. 56
14722616 2004
30
Adult familial cryptogenic fibrosing alveolitis in the United Kingdom. 56
10639533 2000
31
Occupational exposure to metal or wood dust and aetiology of cryptogenic fibrosing alveolitis. 56
8569361 1996
32
Circulating fibrocytes define a new leukocyte subpopulation that mediates tissue repair. 56
8790603 1994
33
Simultaneous occurrence of pulmonary interstitial fibrosis and alveolar cell carcinoma in one family. 56
6269246 1981
34
Familial chronic interstitial pneumonia. 56
4198347 1973
35
A new look at the Hamman-Rich syndrome. 56
4636397 1972
36
Familial Hamman-Rich syndrome. Report of eight cases. 56
5763753 1969
37
Familial fibrocystic pulmonary dysplasia: a detailed family study. 56
5912179 1966
38
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 56
5942662 1966
39
FAMILIAL FIBROCYSTIC PULMONARY DYSPLASIA: OBSERVATIONS IN ONE FAMILY. 56
14272497 1965
40
FAMILIAL INTERSTITIAL PULMONARY FIBROSIS. 56
14238389 1964
41
CHRONIC DIFFUSE INTERSTITIAL PULMONARY FIBROSIS IN BROTHERS. 56
14114728 1964
42
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 56
13817571 1959
43
Congenital cystic disease of the lung with progressive pulmonary fibrosis and carcinomatosis. 56
13521603 1958
44
The antifibrotic effects of plasminogen activation occur via prostaglandin E2 synthesis in humans and mice. 61 54
20501949 2010
45
Repression of IP-10 by interactions between histone deacetylation and hypermethylation in idiopathic pulmonary fibrosis. 61 54
20404089 2010
46
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. 54 61
20502709 2010
47
Cytokine-dependent balance of mitogenic effects in primary human lung fibroblasts related to cyclic AMP signaling and phosphodiesterase 4 inhibition. 54 61
20082309 2010
48
Treatment with IFN-{alpha}, -{beta}, or -{gamma} is associated with collapsing focal segmental glomerulosclerosis. 54 61
20203164 2010
49
SPARC suppresses apoptosis of idiopathic pulmonary fibrosis fibroblasts through constitutive activation of beta-catenin. 61 54
20061390 2010
50
The role of endothelin-1 in the pathogenesis of idiopathic pulmonary fibrosis. 61 54
20055532 2010
Sources

Variations for Pulmonary Fibrosis, Idiopathic

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ClinVar genetic disease variations for Pulmonary Fibrosis, Idiopathic:

6 (show top 50) (show all 805) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TERT NM_198253.3(TERT):c.336dup (p.Glu113fs)duplication Pathogenic 410651 rs1060502990 5:1294664-1294665 5:1294549-1294550
2 TERT NM_198253.2(TERT):c.2320C>T (p.Arg774Ter)SNV Pathogenic 446373 rs770066110 5:1272362-1272362 5:1272247-1272247
3 TERT NM_198253.3(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer)short repeat Pathogenic 539193 rs1554038257 5:1255448-1255449 5:1255333-1255334
4 TERT NM_198253.3(TERT):c.1044_1045CT[2] (p.Leu350fs)short repeat Pathogenic 539192 rs1554042899 5:1293952-1293953 5:1293837-1293838
5 TERT NC_000005.10:g.(?_1280152)_(1280344_?)deldeletion Pathogenic 584005 5:1280267-1280459 5:1280152-1280344
6 TERT NM_198253.3(TERT):c.180G>A (p.Trp60Ter)SNV Pathogenic 568038 rs1554043139 5:1294925-1294925 5:1294810-1294810
7 TERT NC_000005.10:g.(?_1280148)_(1280348_?)deldeletion Pathogenic 654662 5:1280263-1280463 5:1280148-1280348
8 TERT NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)SNV Pathogenic 656696 5:1293551-1293551 5:1293436-1293436
9 TERT NM_198253.3(TERT):c.688C>T (p.Arg230Ter)SNV Pathogenic 645232 5:1294313-1294313 5:1294198-1294198
10 TERT NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs)deletion Pathogenic 664605 5:1282627-1282628 5:1282512-1282513
11 subset of 17 genes: TERT NC_000005.10:g.(?_218346)_(1295046_?)deldeletion Pathogenic 831255 5:218461-1295161
12 subset of 17 genes: TERT NC_000005.10:g.(?_218349)_(1297373_?)deldeletion Pathogenic 831918 5:218464-1297488
13 TERT NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)SNV Pathogenic 863437 5:1264658-1264658 5:1264543-1264543
14 TERT NM_198253.3(TERT):c.2540dup (p.Asp848fs)duplication Pathogenic 841032 5:1268676-1268677 5:1268561-1268562
15 TERT NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)SNV Pathogenic 842734 5:1282570-1282570 5:1282455-1282455
16 TERT NM_198253.3(TERT):c.1712del (p.Asn571fs)deletion Pathogenic 849023 5:1282601-1282601 5:1282486-1282486
17 TERT NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs)deletion Pathogenic 850129 5:1293830-1293845 5:1293715-1293730
18 TERT NM_198253.3(TERT):c.613dup (p.His205fs)duplication Pathogenic 850035 5:1294387-1294388 5:1294272-1294273
19 TERT NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)SNV Pathogenic 843002 5:1293567-1293567 5:1293452-1293452
20 TERC NR_001566.1(TERC):n.98G>ASNV Pathogenic 7327 rs199422268 3:169482751-169482751 3:169764963-169764963
21 TERT NM_198253.3(TERT):c.2594G>A (p.Arg865His)SNV Pathogenic 12736 rs121918666 5:1266639-1266639 5:1266524-1266524
22 TERT NM_198253.3(TERT):c.2240del (p.Val747fs)deletion Pathogenic 12737 rs199422300 5:1278802-1278802 5:1278687-1278687
23 TERT NM_198253.2(TERT):c.219+1G>ASNV Pathogenic 12738 rs199422309 5:1294885-1294885 5:1294770-1294770
24 SFTPA2 NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)SNV Pathogenic 13199 rs121917737 10:81317020-81317020 10:79557264-79557264
25 SFTPA2 NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser)SNV Pathogenic 13200 rs121917738 10:81317119-81317119 10:79557363-79557363
26 TERT NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)SNV Pathogenic 29899 rs199422294 5:1280331-1280331 5:1280216-1280216
27 TERT NM_198253.2(TERT):c.2583-2A>CSNV Pathogenic 36944 rs111576740 5:1266652-1266652 5:1266537-1266537
28 TERT NM_198253.3(TERT):c.164T>A (p.Leu55Gln)SNV Pathogenic 36945 rs387907247 5:1294941-1294941 5:1294826-1294826
29 TERT NM_198253.3(TERT):c.112del (p.Leu38fs)deletion Pathogenic 39099 rs199422290 5:1294993-1294993 5:1294878-1294878
30 TERT NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)SNV Pathogenic 39101 rs199422293 5:1293545-1293545 5:1293430-1293430
31 TERT NM_198253.3(TERT):c.*6_*182deldeletion Pathogenic 39123 rs199422308 5:1253661-1253837 5:1253546-1253722
32 TERT NM_198253.3(TERT):c.97C>T (p.Pro33Ser)SNV Pathogenic 39127 rs199422289 5:1295008-1295008 5:1294893-1294893
33 RTEL1 NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter)SNV Pathogenic 42020 rs398123017 20:62324564-62324564 20:63693211-63693211
34 RTEL1 NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del)deletion Pathogenic 217283 rs863225053 20:62321515-62321523 20:63690162-63690170
35 RTEL1 NM_016434.3(RTEL1):c.958+2dupduplication Pathogenic 217517 rs869312855 20:62309537-62309538 20:63678184-63678185
36 RTEL1 NM_016434.3(RTEL1):c.1546G>C (p.Val516Leu)SNV Pathogenic 217519 rs748223349 20:62319354-62319354 20:63688001-63688001
37 RTEL1 NM_016434.3(RTEL1):c.1618T>G (p.Ser540Ala)SNV Pathogenic 217520 rs863225130 20:62319514-62319514 20:63688161-63688161
38 RTEL1 NM_016434.3(RTEL1):c.1482-1G>ASNV Pathogenic/Likely pathogenic 217518 rs863225129 20:62319289-62319289 20:63687936-63687936
39 RTEL1 NM_016434.3(RTEL1):c.2413+1G>CSNV Pathogenic/Likely pathogenic 217284 rs776744306 20:62321795-62321795 20:63690442-63690442
40 ABCA3 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)SNV Pathogenic/Likely pathogenic 203381 rs149989682 16:2367764-2367764 16:2317763-2317763
41 RTEL1 NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)SNV Pathogenic/Likely pathogenic 42018 rs201540674 20:62326972-62326972 20:63695619-63695619
42 MUC5B NM_002458.2(MUC5B):c.-3133G>TSNV risk factor 30126 rs35705950 11:1241221-1241221 11:1219991-1219991
43 ABCA3 NM_001089.3(ABCA3):c.1609_1611+4delinsCCAindel Likely pathogenic 228242 rs876657633 16:2350002-2350008 16:2300001-2300007
44 ABCA3 NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)duplication Likely pathogenic 915845 16:2327903-2327904 16:2277902-2277903
45 ABCA3 NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)SNV Likely pathogenic 915844 16:2338148-2338148 16:2288147-2288147
46 TERT NM_198253.3(TERT):c.2382+1G>CSNV Likely pathogenic 834313 5:1272299-1272299 5:1272184-1272184
47 SFTPC NM_003018.4(SFTPC):c.316T>C (p.Tyr106His)SNV Likely pathogenic 802394 8:22020707-22020707 8:22163194-22163194
48 RTEL1 NM_032957.4(RTEL1):c.388_389del (p.Ser130fs)deletion Likely pathogenic 559537 rs1555899640 20:62293288-62293289 20:63661935-63661936
49 RTEL1 NM_032957.4(RTEL1):c.3631C>T (p.Gln1211Ter)SNV Likely pathogenic 559538 rs776525427 20:62326740-62326740 20:63695387-63695387
50 TERT NM_198253.2(TERT):c.(?_1574)_(1769_?)deldeletion Likely pathogenic 506225 5:1282544-1282739 5:1282429-1282624

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Fibrosis, Idiopathic:

73
# Symbol AA change Variation ID SNP ID
1 SFTPA2 p.Phe198Ser VAR_063519 rs121917738
2 SFTPA2 p.Gly231Val VAR_063520 rs121917737

Sources

Expression for Pulmonary Fibrosis, Idiopathic

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Search GEO for disease gene expression data for Pulmonary Fibrosis, Idiopathic.
Sources

Pathways for Pulmonary Fibrosis, Idiopathic

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Pathways related to Pulmonary Fibrosis, Idiopathic according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 65
Show member pathways
 13.58 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 PARN
2
IL-17 Family Signaling Pathways 64
Show member pathways
 12.13 MUC5B CXCL8 CXCL5 CCL2
3
Interleukin-4 and 13 signaling 65
11.77 TGFB1 CXCL8 CCL2
4
AGE-RAGE signaling pathway in diabetic complications 36
11.7 TGFB1 CXCL8 CCL2
5
Rheumatoid arthritis 36
11.64 TGFB1 CXCL8 CXCL5 CCL2
6
Diseases of metabolism 65
Show member pathways
 11.59 SFTPD SFTPC SFTPA2 SFTPA1
7
Pertussis 36
11.44 SFTPA2 SFTPA1 CXCL8 CXCL5
8
PERK regulates gene expression 65
Show member pathways
 11.41 PARN CXCL8 CCL2
9
Lung fibrosis 1
11.33 TGFB1 TERT STN1 SFTPC SFTPA2 SFTPA1
10
Malaria 36
11.31 TGFB1 CXCL8 CCL2
11
FOXA1 transcription factor network 1
Show member pathways
 11.24 SFTPD SFTPA2 SFTPA1
12
Surfactant metabolism 65
Show member pathways
 10.99 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
13
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) 65
Show member pathways
 10.85 SFTPD SFTPC SFTPA2 SFTPA1
14
G-protein signaling_Rap2B regulation pathway 22
10.81 TGFB1 CXCL8 CXCL5 CCN2 CCL2
Sources

GO Terms for Pulmonary Fibrosis, Idiopathic

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Cellular components related to Pulmonary Fibrosis, Idiopathic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.07 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
2 extracellular space GO:0005615 9.7 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
3 collagen trimer GO:0005581 9.65 SFTPD SFTPA2 SFTPA1
4 rough endoplasmic reticulum GO:0005791 9.63 SFTPD SFTPA2 SFTPA1
5 multivesicular body GO:0005771 9.58 SFTPD SFTPA2 SFTPA1
6 chromosome, telomeric region GO:0000781 9.56 TERT TERC STN1 RTEL1
7 alveolar lamellar body GO:0097208 9.43 SFTPC ABCA3
8 lamellar body GO:0042599 9.33 SFTPC SFTPA2 SFTPA1
9 telomerase catalytic core complex GO:0000333 9.32 TERT TERC
10 clathrin-coated endocytic vesicle GO:0045334 8.92 SFTPD SFTPC SFTPA2 SFTPA1

Biological processes related to Pulmonary Fibrosis, Idiopathic according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neutrophil chemotaxis GO:0030593 9.63 CXCL8 CXCL5 CCL2
2 chemokine-mediated signaling pathway GO:0070098 9.61 CXCL8 CXCL5 CCL2
3 telomere maintenance GO:0000723 9.54 TERT STN1 RTEL1
4 toll-like receptor signaling pathway GO:0002224 9.5 SFTPD SFTPA2 SFTPA1
5 macrophage chemotaxis GO:0048246 9.49 SFTPD CCL2
6 PERK-mediated unfolded protein response GO:0036499 9.48 CXCL8 CCL2
7 DNA biosynthetic process GO:0071897 9.43 TERT TERC CCN2
8 connective tissue development GO:0061448 9.4 TGFB1 CCN2
9 cellular protein metabolic process GO:0044267 9.35 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
10 developmental process GO:0032502 9.33 SFTPD SFTPA2 SFTPA1
11 respiratory gaseous exchange GO:0007585 8.92 SFTPD SFTPC SFTPA2 SFTPA1

Molecular functions related to Pulmonary Fibrosis, Idiopathic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.67 TGFB1 CXCL8 CXCL5 CCL2
2 CXCR chemokine receptor binding GO:0045236 9.4 CXCL8 CXCL5
3 chemokine activity GO:0008009 9.33 CXCL8 CXCL5 CCL2
4 RNA-directed DNA polymerase activity GO:0003964 9.32 TERT TERC
5 telomerase activity GO:0003720 9.26 TERT TERC
6 telomerase RNA reverse transcriptase activity GO:0003721 8.96 TERT TERC
7 monosaccharide binding GO:0048029 8.8 SFTPD SFTPA2 SFTPA1
Sources

Sources for Pulmonary Fibrosis, Idiopathic

About this section
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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