IPF
MCID: PLM134
MIFTS: 76

Pulmonary Fibrosis, Idiopathic (IPF)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis, Idiopathic

MalaCards integrated aliases for Pulmonary Fibrosis, Idiopathic:

Name: Pulmonary Fibrosis, Idiopathic 57 72 13 37
Idiopathic Pulmonary Fibrosis 12 73 20 43 58 36 29 6 44 15 62 17 70
Fibrocystic Pulmonary Dysplasia 57 12 20 72
Ipf 57 43 58 72
Pulmonary Fibrosis, Idiopathic, Susceptibility to 57 29 6
Idiopathic Pulmonary Fibrosis, Familial 57 12
Fibrosing Alveolitis, Cryptogenic 57 20
Cryptogenic Fibrosing Alveolitis 12 43
Acute Interstitial Pneumonia 58 70
Hamman-Rich Syndrome 58 70
Uip 57 72
Idiopathic Fibrosing Alveolitis, Chronic Form 43
Familial Idiopathic Pulmonary Fibrosis 20
Idiopathic Pulmonary Fibrosis Familial 72
Chronic Idiopathic Pulmonary Fibrosis 70
Interstitial Pneumonitis, Usual; Uip 57
Fibrosing Alveolitis Cryptogenic 72
Interstitial Pneumonitis, Usual 57
Fibrosis, Pulmonary, Idiopathic 39
Acute Interstitial Pneumonitis 58
Interstitial Pneumonitis Usual 72
Fibrosis Idiopathic Pulmonary 54
Usual Interstitial Pneumonia 43
Fibrosing Alveolitis 20
Hamman-Rich Disease 72

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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
pulmonary fibrosis, idiopathic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:0050156
OMIM® 57 178500
KEGG 36 H01299
ICD9CM 34 516.31
MeSH 44 D054990
NCIt 50 C35716
SNOMED-CT 67 28168000
ICD10 32 J84.112
MESH via Orphanet 45 D054990
ICD10 via Orphanet 33 J84.1
UMLS via Orphanet 71 C0085786 C1279945 C1800706
UMLS 70 C0085786 C1279945 C1800706 more

Summaries for Pulmonary Fibrosis, Idiopathic

MedlinePlus Genetics : 43 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. Idiopathic pulmonary fibrosis belongs to a group of conditions called interstitial lung diseases (also known as ILD), which describes lung diseases that involve inflammation or scarring in the lung.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 interstitial pneumonitis, desquamative, familial and interstitial lung disease, 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 Diseases of metabolism. The drugs Pirfenidone and Nintedanib 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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 Idiopathic pulmonary fibrosis (IPF) is a rare, progressive illness of the respiratory system,... more...

Related Diseases for Pulmonary Fibrosis, Idiopathic

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

(show top 50) (show all 453)
# Related Disease Score Top Affiliating Genes
1 interstitial pneumonitis, desquamative, familial 32.6 TERC SFTPD SFTPC SFTPA2 MUC5B ABCA3
2 interstitial lung disease 32.2 TGFB1 TERT SFTPD SFTPC SFTPA2 MUC5B
3 pulmonary fibrosis 32.0 TGFB1 TERT TERC SFTPD SFTPC SFTPA2
4 pulmonary fibrosis predisposition 31.6 TERT TERC SFTPC SFTPA2 MUC5B
5 nonspecific interstitial pneumonia 31.5 TGFB1 SFTPD SFTPC MUC5B CCL2 ABCA3
6 pulmonary disease, chronic obstructive 31.4 TGFB1 SFTPD FAM13A CCN2 CCL2
7 dyskeratosis congenita 31.4 TERT TERC STN1 SFTPA2 RTEL1-TNFRSF6B RTEL1
8 respiratory failure 31.4 SFTPD SFTPC CCL2 ABCA3
9 pneumoconiosis 31.3 TGFB1 MUC5B CCL2
10 pulmonary alveolar proteinosis 31.3 SFTPD SFTPC SFTPA1 CCL2
11 idiopathic interstitial pneumonia 31.3 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
12 postinflammatory pulmonary fibrosis 31.2 TERT TERC SFTPA2 MUC5B
13 anthracosis 31.2 TGFB1 CCL2
14 lymphoid interstitial pneumonia 31.1 TGFB1 TERT TERC
15 silicosis 31.1 TGFB1 SFTPD CCL2
16 aplastic anemia 31.1 TGFB1 TERT TERC RTEL1 PARN LOC110806263
17 lung disease 31.1 TGFB1 TERT SFTPD SFTPC SFTPA2 SFTPA1
18 pneumonia 31.1 SFTPD SFTPC MUC5B CCL2
19 pulmonary interstitial emphysema 31.0 SFTPD SFTPC SFTPA1 ABCA3
20 aspergillosis 31.0 SFTPD SFTPA2 SFTPA1
21 acute interstitial pneumonia 31.0 TERT TERC SFTPD SFTPC SFTPA2 SFTPA1
22 dyskeratosis congenita autosomal dominant 30.9 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 30.9 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
24 cryptogenic organizing pneumonia 30.9 SFTPD SFTPC SFTPA2
25 lipid pneumonia 30.7 SFTPC ABCA3
26 dyskeratosis congenita, autosomal dominant 2 30.7 TERT LOC110806263
27 non-alcoholic steatohepatitis 30.7 TGFB1 CCN2 CCL2
28 tuberculous meningitis 30.5 TGFB1 CCL2
29 renal fibrosis 30.4 TGFB1 CCN2 CCL2
30 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.4
31 localized pulmonary fibrosis 11.2
32 dyskeratosis congenita, autosomal dominant 1 10.7 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
33 hoyeraal hreidarsson syndrome 10.7 TERT TERC RTEL1-TNFRSF6B RTEL1 PARN
34 pulmonary immaturity 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
35 newborn respiratory distress syndrome 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
36 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
37 dyskeratosis congenita autosomal recessive 10.7 TERT RTEL1-TNFRSF6B RTEL1 PARN
38 neonatal respiratory failure 10.7 SFTPD SFTPC SFTPA2 ABCA3
39 respiratory distress syndrome in premature infants 10.7 SFTPC SFTPA1 ABCA3
40 surfactant dysfunction 10.7 SFTPC SFTPA1 ABCA3
41 chronic congestive splenomegaly 10.7 TERT SFTPC ABCA3
42 revesz syndrome 10.7 TERT TERC RTEL1
43 middle ear disease 10.7 SFTPA2 SFTPA1 MUC5B
44 pulmonary alveolar microlithiasis 10.7 SFTPD SFTPA2 ABCA3
45 allergic bronchopulmonary aspergillosis 10.7 SFTPD SFTPA2 SFTPA1
46 ureteral disease 10.6 TGFB1 CCN2 CCL2
47 mckusick-kaufman syndrome 10.6 TGFB1 CCN2 CCL2
48 nephrosclerosis 10.6 TGFB1 CCN2 CCL2
49 carpal tunnel syndrome 10.6 TGFB1 CCN2 CCL2
50 vitreoretinopathy, neovascular inflammatory 10.6 TGFB1 CCN2 CCL2

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



Diseases related to Pulmonary Fibrosis, Idiopathic

Symptoms & Phenotypes for Pulmonary Fibrosis, Idiopathic

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 very rare (1%) 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 dyspnea 58 31 Very frequent (99-80%) HP:0002094
13 decreased dlco 58 31 Frequent (79-30%) HP:0045051
14 hypertension 58 Frequent (79-30%)
15 fatigue 58 Frequent (79-30%)
16 fever 58 Frequent (79-30%)
17 cirrhosis 31 HP:0001394
18 arthralgia 58 Occasional (29-5%)
19 myalgia 58 Occasional (29-5%)
20 atelectasis 58 Occasional (29-5%)
21 chest pain 58 Occasional (29-5%)
22 pulmonary arterial hypertension 31 HP:0002092
23 respiratory failure 58 Very frequent (99-80%)
24 tachypnea 58 Frequent (79-30%)
25 hypoxemia 58 Very frequent (99-80%)
26 cyanosis 58 Frequent (79-30%)
27 pleural effusion 58 Frequent (79-30%)
28 lymphadenopathy 58 Occasional (29-5%)
29 interstitial pulmonary abnormality 58 Very frequent (99-80%)
30 elevated c-reactive protein level 58 Occasional (29-5%)
31 pulmonary infiltrates 58 Very frequent (99-80%)
32 elevated erythrocyte sedimentation rate 58 Occasional (29-5%)
33 pericardial effusion 58 Occasional (29-5%)
34 peripheral edema 58 Occasional (29-5%)
35 elevated serum creatinine 58 Occasional (29-5%)
36 nonproductive cough 58 Frequent (79-30%)
37 peribronchovascular interstitial thickening 58 Very frequent (99-80%)
38 nodular pattern on pulmonary hrct 58 Very frequent (99-80%)
39 reticulonodular pattern on pulmonary hrct 58 Very frequent (99-80%)
40 interlobular septal thickening on pulmonary hrct 58 Very frequent (99-80%)
41 subpleural honeycombing 58 Occasional (29-5%)
42 reduced hematocrit 58 Occasional (29-5%)
43 usual interstitial pneumonia 31 HP:0031950
44 increased circulating antibody level 31 HP:0010702
45 alveolar cell carcinoma 31 HP:0006519
46 elevated bronchoalveolar lavage fluid neutrophil proportion 31 HP:0032977

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Pulmonary Fibrosis, Idiopathic:


dyspnea on exertion; dry cough

MGI Mouse Phenotypes related to Pulmonary Fibrosis, Idiopathic:

46
# 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

Drugs & Therapeutics for Pulmonary Fibrosis, Idiopathic

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 172)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
2
Nintedanib Approved Phase 4 656247-17-5 56843413
3 Anti-Inflammatory Agents Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Anti-Inflammatory Agents, Non-Steroidal Phase 4
6
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
7
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
8
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
9
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
11
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
12
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
13
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
14
Acetylcysteine Approved, Investigational Phase 3 616-91-1 12035
15
Morphine Approved, Investigational Phase 3 57-27-2 5288826
16
Azathioprine Approved Phase 3 446-86-6 2265
17
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
18
Sulfamethoxazole Approved Phase 3 723-46-6 5329
19
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
20
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
21
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
22
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
23
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
24
Warfarin Approved Phase 3 81-81-2 54678486 6691
25
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
27
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
28 Immunologic Factors Phase 3
29 glucocorticoids Phase 3
30 Antibodies Phase 3
31 Immunoglobulins Phase 3
32 Immunoglobulin G Phase 3
33 Immunoglobulins, Intravenous Phase 3
34 Hormone Antagonists Phase 3
35 Hormones Phase 3
36 Antineoplastic Agents, Hormonal Phase 3
37 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
38 Protein Kinase Inhibitors Phase 2, Phase 3
39 Methylprednisolone Acetate Phase 3
40 gamma-Globulins Phase 3
41 Rho(D) Immune Globulin Phase 3
42 Alkylating Agents Phase 3
43 Antilymphocyte Serum Phase 3
44 Expectorants Phase 3
45 Antidotes Phase 3
46 Antioxidants Phase 3
47 N-monoacetylcystine Phase 3
48 Protective Agents Phase 3
49 Narcotics Phase 3
50 Analgesics, Opioid Phase 3

Interventional clinical trials:

(show top 50) (show all 361)
# 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 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
4 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
5 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
6 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
7 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
8 Pragmatic Management of Progressive Disease in Idiopathic Pulmonary Fibrosis: a Randomized Trial Recruiting NCT03939520 Phase 4 pirfenidone and nintedanib;pirfenidone or nintedanib
9 Study of Pulmonary Rehabilitation In Nintedanib Treated Patients With IPF: Improvements in Activity, Exercise Endurance Time, and QoL Terminated NCT03717012 Phase 4 Nintedanib
10 Employment of 68Ga-DOTA-NOC in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
11 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
12 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
13 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
14 Minocycline Treatment in Patients With Idiopathic Pulmonary Fibrosis Being Treated With Standard of Care Therapy- a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
15 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
16 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
17 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
18 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
19 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
20 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
21 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)
22 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
23 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
24 Treatment of Chronic Cough in Idiopathic Pulmonary Fibrosis With Thalidomide Completed NCT00600028 Phase 3 Thalidomide;Placebo
25 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
26 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
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 An Open-label Extension Trial of the Long Term Safety of Oral BIBF 1120 in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01619085 Phase 3 BIBF 1120
29 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
30 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
31 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)
32 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
33 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
34 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3 Sildenafil Citrate
35 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
36 PAciFy Cough: A Multicentre, Double Blind, Placebo Controlled, Crossover Trial of Morphine Sulfate for the Treatment of PulmonAry Fibrosis Cough Recruiting NCT04429516 Phase 3 Morphine Sulfate;Placebo oral tablet
37 Zephyrus II: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Pamrevlumab in Subjects With Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT04419558 Phase 3 Pamrevlumab;Placebo
38 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
39 Prospective Treatment Efficacy in IPF Using Genotype for Nac Selection (PRECISIONS) Trial Recruiting NCT04300920 Phase 3 N-acetyl cysteine;Placebo
40 A Phase III Open-label Extension Study to Evaluate Long-term Safety and Efficacy of PRM-151 in Patients With Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT04594707 Phase 3 PRM-151
41 A Phase III Randomized, Double-blind, Placebo Controlled Trial to Evaluate the Efficacy and Safety of PRM-151 in Patients With Idiopathic Pulmonary Fibrosis Recruiting NCT04552899 Phase 3 PRM-151;Placebo
42 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 Active, not recruiting NCT03733444 Phase 3 GLPG1690;Placebo
43 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 Active, not recruiting NCT03711162 Phase 3 GLPG1690;Placebo
44 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study of the Efficacy and Safety of Inhaled Treprostinil in Subjects With Idiopathic Pulmonary Fibrosis Not yet recruiting NCT04708782 Phase 3 Placebo;Inhaled Treprostinil
45 Determining the Effectiveness of Nebulized Morphine in Treating Dyspnea in Advanced Idiopathic Pulmonary Fibrosis Not yet recruiting NCT04497831 Phase 3 Morphine hydrochloride;Placebo
46 A Randomized, Double-Blind, Three-Arm, Phase IIIb Study Comparing the Safety and Efficacy of Interferon Gamma-1b Alone, IFN-Gamma 1b With Azathioprine, and Azathioprine Alone in Patients With Idiopathic Pulmonary Fibrosis Receiving Prednisone Terminated NCT00052039 Phase 3 interferon-gamma 1b;azathioprine
47 ARTEMIS-IPF: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center, Parallel-Group, Event Driven Study to Evaluate the Efficacy and Safety of Ambrisentan in Subjects With Early Idiopathic Pulmonary Fibrosis (IPF) Terminated NCT00768300 Phase 3 Ambrisentan;Placebo
48 An Open-Label Study of the Safety of Subcutaneous Recombinant Interferon Gamma-1b in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT00076635 Phase 3 Interferon gamma-1b
49 Pilot Study Phase III to Evaluate the Efficacy and Safety of Trimethoprim-sulfamethoxazole in the Treatment of Idiopathic Pulmonary Fibrosis Terminated NCT01777737 Phase 3 Cotrimoxazole;Placebo
50 A Clinical Treatment Trial Targeting Vascular Reactivity in Idiopathic Pulmonary Fibrosis Terminated NCT00981747 Phase 2, Phase 3 Sildenafil;Losartan;Sildenafil and Losartan;Placebo Oral Tablet

Search NIH Clinical Center for Pulmonary Fibrosis, Idiopathic

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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.

Cochrane evidence based reviews: idiopathic pulmonary fibrosis

Genetic Tests for Pulmonary Fibrosis, Idiopathic

Genetic tests related to Pulmonary Fibrosis, Idiopathic:

# Genetic test Affiliating Genes
1 Idiopathic Pulmonary Fibrosis 29 MUC5B SFTPA2 SFTPC TERT
2 Pulmonary Fibrosis, Idiopathic, Susceptibility to 29

Anatomical Context for Pulmonary Fibrosis, Idiopathic

MalaCards organs/tissues related to Pulmonary Fibrosis, Idiopathic:

40
Lung, Bone Marrow, Bone, Endothelial, Neutrophil, Heart, Liver
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

Publications for Pulmonary Fibrosis, Idiopathic

Articles related to Pulmonary Fibrosis, Idiopathic:

(show top 50) (show all 9111)
# Title Authors PMID Year
1
MUC5B promoter polymorphism and interstitial lung abnormalities. 6 57 61
23692170 2013
2
A common MUC5B promoter polymorphism and pulmonary fibrosis. 6 57 61
21506741 2011
3
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 57 6 61
21506748 2011
4
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 57 6 61
19100526 2009
5
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. 6 61
31448843 2019
6
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. 6 61
30345907 2018
7
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 61 6
28099038 2017
8
A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis. 6 61
25926289 2015
9
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 61 6
25848748 2015
10
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 61 6
25553246 2014
11
Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. 6 61
23695349 2013
12
Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis. 61 6
23321605 2013
13
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. 61 6
23940607 2013
14
Prostaglandin F(2alpha) receptor signaling facilitates bleomycin-induced pulmonary fibrosis independently of transforming growth factor-beta. 57 61
19966781 2009
15
MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility. 57 61
19363685 2009
16
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 57 61
18753630 2008
17
The lysophosphatidic acid receptor LPA1 links pulmonary fibrosis to lung injury by mediating fibroblast recruitment and vascular leak. 61 57
18066075 2008
18
Adult-onset pulmonary fibrosis caused by mutations in telomerase. 61 6
17460043 2007
19
Caveolin-1: a critical regulator of lung fibrosis in idiopathic pulmonary fibrosis. 61 57
17178917 2006
20
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. 57 61
16773575 2006
21
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. 57 61
16133177 2005
22
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 6 61
16247010 2005
23
Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 61 57
13680361 2003
24
Idiopathic pulmonary fibrosis. 57 61
11519507 2001
25
Hamman-Rich syndrome revisited. 57 61
2255216 1990
26
Platelet-derived growth factor in idiopathic pulmonary fibrosis. 57 61
2170444 1990
27
Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members. 61 57
3702942 1986
28
Familial lung disease associated with proliferation and desquamation of type II pneumonocytes. 57 61
3946361 1986
29
Idiopathic pulmonary fibrosis in monozygotic twins. The importance of genetic predisposition. 61 57
7191366 1980
30
Collagenase in the lower respiratory tract of patients with idiopathic pulmonary fibrosis. 61 57
225666 1979
31
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS. A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 57
14338292 1965
32
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS: A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 57
14275423 1964
33
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
34
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 6
28930861 2017
35
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. 6
27824607 2017
36
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 6
27418648 2016
37
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 6
27128385 2016
38
TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 6
26808564 2016
39
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain. 6
26847928 2016
40
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 6
26810774 2016
41
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency. 6
26025130 2015
42
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 6
25047097 2015
43
Triallelic and epigenetic-like inheritance in human disorders of telomerase. 6
26024875 2015
44
Rare variants in RTEL1 are associated with familial interstitial pneumonia. 6
25607374 2015
45
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 6
25620558 2015
46
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). 6
25073622 2014
47
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 6
25099625 2014
48
Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 6
24871971 2014
49
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. 6
24136335 2014
50
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 6
23959892 2013

Variations for Pulmonary Fibrosis, Idiopathic

ClinVar genetic disease variations for Pulmonary Fibrosis, Idiopathic:

6 (show top 50) (show all 1724)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PARN NM_002582.4(PARN):c.246-2A>G SNV Pathogenic 190468 rs751381953 GRCh37: 16:14721046-14721046
GRCh38: 16:14627189-14627189
2 PARN NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) SNV Pathogenic 190471 rs777090017 GRCh37: 16:14674731-14674731
GRCh38: 16:14580874-14580874
3 PARN NC_000016.9:g.(?_14725823)_(14643928_?)del Deletion Pathogenic 974597 GRCh37:
GRCh38:
4 PARN NM_002582.4(PARN):c.563dup (p.Glu189fs) Duplication Pathogenic 190470 rs878853260 GRCh37: 16:14702971-14702972
GRCh38: 16:14609114-14609115
5 PARN NM_002582.4(PARN):c.563dup (p.Glu189fs) Duplication Pathogenic 190470 rs878853260 GRCh37: 16:14702971-14702972
GRCh38: 16:14609114-14609115
6 PARN NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) Deletion Pathogenic 835748 GRCh37: 16:14676097-14676106
GRCh38: 16:14582240-14582249
7 PARN NM_002582.4(PARN):c.713dup (p.Tyr238Ter) Duplication Pathogenic 956648 GRCh37: 16:14698072-14698073
GRCh38: 16:14604215-14604216
8 PARN NM_002582.4(PARN):c.709C>T (p.Arg237Ter) SNV Pathogenic 933700 GRCh37: 16:14698077-14698077
GRCh38: 16:14604220-14604220
9 PARN NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) SNV Pathogenic 542669 rs201765587 GRCh37: 16:14721018-14721018
GRCh38: 16:14627161-14627161
10 RTEL1-TNFRSF6B , RTEL1 NM_001283010.1(RTEL1):c.-68del Deletion Pathogenic 190472 rs863223336 GRCh37: 20:62297419-62297419
GRCh38: 20:63666066-63666066
11 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.1523C>T (p.Pro508Leu) SNV Pathogenic 190473 rs786205700 GRCh37: 20:62319093-62319093
GRCh38: 20:63687740-63687740
12 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2005C>T (p.Gln669Ter) SNV Pathogenic 253011 rs1555811762 GRCh37: 20:62320981-62320981
GRCh38: 20:63689628-63689628
13 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.3371A>C (p.His1124Pro) SNV Pathogenic 190475 rs786205702 GRCh37: 20:62326446-62326446
GRCh38: 20:63695093-63695093
14 PARN NM_002582.4(PARN):c.657G>A (p.Trp219Ter) SNV Pathogenic 857552 GRCh37: 16:14702140-14702140
GRCh38: 16:14608283-14608283
15 PARN NM_002582.4(PARN):c.709C>T (p.Arg237Ter) SNV Pathogenic 933700 GRCh37: 16:14698077-14698077
GRCh38: 16:14604220-14604220
16 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.607G>T (p.Glu203Ter) SNV Pathogenic 540926 rs1555899932 GRCh37: 20:62294239-62294239
GRCh38: 20:63662886-63662886
17 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2812del (p.Leu938fs) Deletion Pathogenic 577500 rs1449687529 GRCh37: 20:62324313-62324313
GRCh38: 20:63692960-63692960
18 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs) Deletion Pathogenic 665122 rs1601133145 GRCh37: 20:62309662-62309675
GRCh38: 20:63678309-63678322
19 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) SNV Pathogenic 836446 GRCh37: 20:62319502-62319502
GRCh38: 20:63688149-63688149
20 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) Deletion Pathogenic 839752 GRCh37: 20:62324354-62324354
GRCh38: 20:63693001-63693001
21 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) SNV Pathogenic 846262 GRCh37: 20:62293262-62293262
GRCh38: 20:63661909-63661909
22 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) Deletion Pathogenic 842863 GRCh37: 20:62326272-62326272
GRCh38: 20:63694919-63694919
23 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) SNV Pathogenic 935262 GRCh37: 20:62322229-62322229
GRCh38: 20:63690876-63690876
24 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) SNV Pathogenic 937819 GRCh37: 20:62322205-62322205
GRCh38: 20:63690852-63690852
25 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) SNV Pathogenic 938109 GRCh37: 20:62293978-62293978
GRCh38: 20:63662625-63662625
26 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) SNV Pathogenic 941068 GRCh37: 20:62324230-62324230
GRCh38: 20:63692877-63692877
27 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) SNV Pathogenic 957573 GRCh37: 20:62326153-62326153
GRCh38: 20:63694800-63694800
28 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 959673 GRCh37: 20:62321166-62321166
GRCh38: 20:63689813-63689813
29 SFTPA2 NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) SNV Pathogenic 13199 rs121917737 GRCh37: 10:81317020-81317020
GRCh38: 10:79557264-79557264
30 SFTPA2 NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser) SNV Pathogenic 13200 rs121917738 GRCh37: 10:81317119-81317119
GRCh38: 10:79557363-79557363
31 LOC110806263 , TERT NM_198253.3(TERT):c.112del (p.Leu38fs) Deletion Pathogenic 39099 rs199422290 GRCh37: 5:1294993-1294993
GRCh38: 5:1294878-1294878
32 TERT NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) SNV Pathogenic 39101 rs199422293 GRCh37: 5:1293545-1293545
GRCh38: 5:1293430-1293430
33 LOC110806263 , TERT NM_198253.3(TERT):c.164T>A (p.Leu55Gln) SNV Pathogenic 36945 rs387907247 GRCh37: 5:1294941-1294941
GRCh38: 5:1294826-1294826
34 TERT NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) SNV Pathogenic 29899 rs199422294 GRCh37: 5:1280331-1280331
GRCh38: 5:1280216-1280216
35 LOC110806263 , TERT NM_198253.2(TERT):c.219+1G>A SNV Pathogenic 12738 rs199422309 GRCh37: 5:1294885-1294885
GRCh38: 5:1294770-1294770
36 TERT NM_198253.3(TERT):c.2240del (p.Val747fs) Deletion Pathogenic 12737 rs199422300 GRCh37: 5:1278802-1278802
GRCh38: 5:1278687-1278687
37 TERT NM_198253.2(TERT):c.2583-2A>C SNV Pathogenic 36944 rs111576740 GRCh37: 5:1266652-1266652
GRCh38: 5:1266537-1266537
38 TERT NM_198253.3(TERT):c.*6_*182del Deletion Pathogenic 39123 rs199422308 GRCh37: 5:1253661-1253837
GRCh38: 5:1253546-1253722
39 LOC110806263 , TERT NM_198253.3(TERT):c.97C>T (p.Pro33Ser) SNV Pathogenic 39127 rs199422289 GRCh37: 5:1295008-1295008
GRCh38: 5:1294893-1294893
40 TERC NR_001566.1(TERC):n.98G>A SNV Pathogenic 7327 rs199422268 GRCh37: 3:169482751-169482751
GRCh38: 3:169764963-169764963
41 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del) Deletion Pathogenic 217283 rs863225053 GRCh37: 20:62321515-62321523
GRCh38: 20:63690162-63690170
42 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2413+1G>C SNV Pathogenic 217284 rs776744306 GRCh37: 20:62321795-62321795
GRCh38: 20:63690442-63690442
43 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del) Deletion Pathogenic 217283 rs863225053 GRCh37: 20:62321515-62321523
GRCh38: 20:63690162-63690170
44 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1482-1G>A SNV Pathogenic 217518 rs863225129 GRCh37: 20:62319289-62319289
GRCh38: 20:63687936-63687936
45 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1546G>C (p.Val516Leu) SNV Pathogenic 217519 rs748223349 GRCh37: 20:62319354-62319354
GRCh38: 20:63688001-63688001
46 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.2413+1G>C SNV Pathogenic 217284 rs776744306 GRCh37: 20:62321795-62321795
GRCh38: 20:63690442-63690442
47 RTEL1-TNFRSF6B , RTEL1 NM_016434.3(RTEL1):c.1618T>G (p.Ser540Ala) SNV Pathogenic 217520 rs863225130 GRCh37: 20:62319514-62319514
GRCh38: 20:63688161-63688161
48 RTEL1-TNFRSF6B , RTEL1 NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) SNV Pathogenic 957069 GRCh37: 20:62321115-62321115
GRCh38: 20:63689762-63689762
49 TERT NM_198253.3(TERT):c.336dup (p.Glu113fs) Duplication Pathogenic 410651 rs1060502990 GRCh37: 5:1294664-1294665
GRCh38: 5:1294549-1294550
50 TERT NM_198253.3(TERT):c.1044_1045CT[2] (p.Leu350fs) Microsatellite Pathogenic 539192 rs1554042899 GRCh37: 5:1293952-1293953
GRCh38: 5:1293837-1293838

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

72
# Symbol AA change Variation ID SNP ID
1 SFTPA2 p.Phe198Ser VAR_063519 rs121917738
2 SFTPA2 p.Gly231Val VAR_063520 rs121917737

Expression for Pulmonary Fibrosis, Idiopathic

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

Pathways for Pulmonary Fibrosis, Idiopathic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 PARN
2
Show member pathways
11.53 SFTPD SFTPC SFTPA2 SFTPA1
3 11.3 TGFB1 TERT STN1 SFTPC SFTPA2 SFTPA1
4
Show member pathways
11.16 SFTPD SFTPA2 SFTPA1
5
Show member pathways
10.99 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
6
Show member pathways
10.85 SFTPD SFTPC SFTPA2 SFTPA1

GO Terms for Pulmonary Fibrosis, Idiopathic

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
2 chromosome, telomeric region GO:0000781 9.67 TERT TERC STN1 RTEL1
3 collagen trimer GO:0005581 9.63 SFTPD SFTPA2 SFTPA1
4 rough endoplasmic reticulum GO:0005791 9.61 SFTPD SFTPA2 SFTPA1
5 multivesicular body GO:0005771 9.5 SFTPD SFTPA2 SFTPA1
6 alveolar lamellar body GO:0097208 9.4 SFTPC ABCA3
7 telomerase catalytic core complex GO:0000333 9.16 TERT TERC
8 lamellar body GO:0042599 9.13 SFTPC SFTPA2 SFTPA1
9 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 12)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
2 toll-like receptor signaling pathway GO:0002224 9.54 SFTPD SFTPA2 SFTPA1
3 telomere maintenance via telomerase GO:0007004 9.51 TERT TERC
4 DNA biosynthetic process GO:0071897 9.5 TERT TERC CCN2
5 regulation of double-strand break repair via homologous recombination GO:0010569 9.49 RTEL1-TNFRSF6B RTEL1
6 phospholipid homeostasis GO:0055091 9.48 TGFB1 ABCA3
7 macrophage chemotaxis GO:0048246 9.46 SFTPD CCL2
8 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.43 TGFB1 TERT
9 connective tissue development GO:0061448 9.4 TGFB1 CCN2
10 surfactant homeostasis GO:0043129 9.33 TGFB1 SFTPD ABCA3
11 telomere maintenance GO:0000723 9.26 TERT STN1 RTEL1-TNFRSF6B RTEL1
12 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 DNA polymerase binding GO:0070182 9.32 TERC RTEL1
2 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.26 RTEL1-TNFRSF6B RTEL1
3 RNA-directed DNA polymerase activity GO:0003964 9.16 TERT TERC
4 telomerase activity GO:0003720 8.96 TERT TERC
5 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERT TERC

Sources for Pulmonary Fibrosis, Idiopathic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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