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 73 13 37
Idiopathic Pulmonary Fibrosis 12 74 20 43 58 36 29 6 44 15 62 17 71
Fibrocystic Pulmonary Dysplasia 57 12 20 73
Ipf 57 43 58 73
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 71
Hamman-Rich Syndrome 58 71
Uip 57 73
Idiopathic Fibrosing Alveolitis, Chronic Form 43
Familial Idiopathic Pulmonary Fibrosis 20
Idiopathic Pulmonary Fibrosis Familial 73
Chronic Idiopathic Pulmonary Fibrosis 71
Interstitial Pneumonitis, Usual; Uip 57
Fibrosing Alveolitis Cryptogenic 73
Interstitial Pneumonitis, Usual 57
Fibrosis, Pulmonary, Idiopathic 39
Acute Interstitial Pneumonitis 58
Interstitial Pneumonitis Usual 73
Fibrosis Idiopathic Pulmonary 54
Usual Interstitial Pneumonia 43
Fibrosing Alveolitis 20
Hamman-Rich Disease 73

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-Mar-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 72 C0085786 C1279945 C1800706
UMLS 71 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 Diseases of metabolism and Lung fibrosis. The drugs Nintedanib and Analgesics, Non-Narcotic 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-Mar-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 : 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 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 442)
# Related Disease Score Top Affiliating Genes
1 interstitial pneumonitis, desquamative, familial 32.6 TERC SFTPD SFTPC SFTPA2 MUC5B ABCA3
2 interstitial lung disease 32.1 TGFB1 TERT SFTPD SFTPC SFTPA2 MUC5B
3 pulmonary fibrosis 31.9 TGFB1 TERT TERC SFTPD SFTPC SFTPA2
4 nonspecific interstitial pneumonia 31.4 TGFB1 SFTPD SFTPC MUC5B ABCA3
5 dyskeratosis congenita 31.4 TERT TERC STN1 SFTPA2 RTEL1-TNFRSF6B RTEL1
6 pulmonary disease, chronic obstructive 31.3 TGFB1 SFTPD FAM13A CCN2
7 idiopathic interstitial pneumonia 31.2 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
8 postinflammatory pulmonary fibrosis 31.2 TERT TERC SFTPA2 MUC5B
9 pulmonary alveolar proteinosis 31.2 SFTPD SFTPC SFTPA1
10 aplastic anemia 31.1 TGFB1 TERT TERC RTEL1 PARN LOC110806263
11 lymphoid interstitial pneumonia 31.1 TGFB1 TERT TERC
12 lung disease 31.1 TGFB1 TERT SFTPD SFTPC SFTPA2 SFTPA1
13 interstitial emphysema 31.0 SFTPD SFTPC SFTPA1 ABCA3
14 aspergillosis 31.0 SFTPD SFTPA2 SFTPA1
15 acute interstitial pneumonia 31.0 TERT TERC SFTPD SFTPC SFTPA2 SFTPA1
16 dyskeratosis congenita autosomal dominant 30.9 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 30.9 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
18 cryptogenic organizing pneumonia 30.8 SFTPD SFTPC SFTPA2
19 lipid pneumonia 30.7 SFTPC ABCA3
20 systemic scleroderma 30.0 TGFB1 SFTPD CCN2
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.4
22 localized pulmonary fibrosis 11.2
23 pulmonary immaturity 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
24 dyskeratosis congenita, autosomal dominant 1 10.7 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
25 newborn respiratory distress syndrome 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
26 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
27 neonatal respiratory failure 10.7 SFTPD SFTPC SFTPA2 ABCA3
28 dyskeratosis congenita autosomal recessive 10.7 TERT RTEL1-TNFRSF6B RTEL1 PARN
29 hoyeraal hreidarsson syndrome 10.7 TERT TERC RTEL1 PARN
30 respiratory distress syndrome in premature infants 10.7 SFTPC SFTPA1 ABCA3
31 surfactant dysfunction 10.7 SFTPC SFTPA1 ABCA3
32 dyskeratosis congenita, autosomal dominant 2 10.7 TERT LOC110806263 EXOC3-AS1
33 chronic congestive splenomegaly 10.7 TERT SFTPC ABCA3
34 revesz syndrome 10.6 TERT TERC RTEL1
35 middle ear disease 10.6 SFTPA2 SFTPA1 MUC5B
36 pulmonary alveolar microlithiasis 10.6 SFTPD SFTPA2 ABCA3
37 allergic bronchopulmonary aspergillosis 10.6 SFTPD SFTPA2 SFTPA1
38 diarrhea 10.6
39 myringitis bullosa hemorrhagica 10.6 SFTPA2 SFTPA1
40 respiratory distress syndrome, infant 10.6 SFTPC ABCA3
41 ventilation pneumonitis 10.6 SFTPD ABCA3
42 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.6 RTEL1-TNFRSF6B RTEL1
43 inherited bone marrow failure syndromes 10.6 TERT TERC
44 surfactant metabolism dysfunction, pulmonary, 1 10.6 SFTPC ABCA3
45 otitis media 10.6 SFTPA2 SFTPA1 MUC5B
46 dyskeratosis congenita, autosomal recessive 5 10.5 RTEL1-TNFRSF6B RTEL1
47 asbestosis 10.5
48 asbestos intoxication 10.5
49 urethral stricture 10.5 TGFB1 CCN2
50 cholecystolithiasis 10.5 TGFB1 CCN2

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-Mar-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-Mar-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 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nintedanib Approved Phase 4 656247-17-5 56843413
2 Analgesics, Non-Narcotic Phase 4
3 Anti-Inflammatory Agents, Non-Steroidal Phase 4
4
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
5
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
6
Treprostinil Approved, Investigational Phase 3 81846-19-7 54786 6918140
7
Morphine Approved, Investigational Phase 3 57-27-2 5288826
8
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
9
Azathioprine Approved Phase 3 446-86-6 2265
10
Sulfamethoxazole Approved Phase 3 723-46-6 5329
11
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
12
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
13
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
14
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
15
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
16
Warfarin Approved Phase 3 81-81-2 6691 54678486
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18 Pharmaceutical Solutions Phase 3
19 Immunologic Factors Phase 3
20 Anti-Inflammatory Agents Phase 3
21 glucocorticoids Phase 3
22 Hormones Phase 3
23 Hormone Antagonists Phase 3
24 Immunoglobulins Phase 3
25 Antibodies Phase 3
26 Alkylating Agents Phase 3
27 Antineoplastic Agents, Hormonal Phase 3
28 gamma-Globulins Phase 3
29 Immunoglobulins, Intravenous Phase 3
30 Rho(D) Immune Globulin Phase 3
31 Protein Kinase Inhibitors Phase 2, Phase 3
32 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
33 Immunoglobulin G Phase 3
34 Antilymphocyte Serum Phase 3
35 Analgesics Phase 3
36 Narcotics Phase 3
37 Analgesics, Opioid Phase 3
38 Antimetabolites Phase 3
39 Anti-Infective Agents Phase 3
40 Anti-Bacterial Agents Phase 3
41 interferons Phase 3
42 Interferon-gamma Phase 3
43 Antiviral Agents Phase 3
44 Immunosuppressive Agents Phase 3
45 Antiparasitic Agents Phase 3
46 Trimethoprim, Sulfamethoxazole Drug Combination Phase 3
47 Antiprotozoal Agents Phase 3
48 Antimalarials Phase 3
49 Vitamin B Complex Phase 3
50 Vitamin B9 Phase 3

Interventional clinical trials:

(show top 50) (show all 358)
# 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 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
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 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
7 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
8 Pragmatic Management of Progressive Disease in Idiopathic Pulmonary Fibrosis: a Randomized Trial Recruiting NCT03939520 Phase 4 pirfenidone and nintedanib;pirfenidone or nintedanib
9 Employment of 68Ga-DOTA-NOC in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
10 Study of Pulmonary Rehabilitation In Nintedanib Treated Patients With IPF: Improvements in Activity, Exercise Endurance Time, and QoL Terminated NCT03717012 Phase 4 Nintedanib
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, Three-Arm Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287716 Phase 3 Pirfenidone;Placebo
17 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
18 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
19 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
20 Treatment of Chronic Cough in Idiopathic Pulmonary Fibrosis With Thalidomide Completed NCT00600028 Phase 3 Thalidomide;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 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
23 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
24 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)
25 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
26 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
27 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
28 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
29 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
30 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)
31 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
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 NCT01335464 Phase 3 placebo;BIBF 1120
33 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3 Sildenafil Citrate
34 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
35 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
36 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
37 Prospective Treatment Efficacy in IPF Using Genotype for Nac Selection (PRECISIONS) Trial Recruiting NCT04300920 Phase 3 N-acetyl cysteine;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 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
40 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
41 An Open-label Extension Trial of the Long Term Safety of Oral BIBF 1120 in Patients With Idiopathic Pulmonary Fibrosis (IPF) Active, not recruiting NCT01619085 Phase 3 BIBF 1120
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 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
44 PAciFy Cough: A Multicentre, Double Blind, Placebo Controlled, Crossover Trial of Morphine Sulfate for the Treatment of PulmonAry Fibrosis Cough Not yet recruiting NCT04429516 Phase 3 Morphine Sulfate;Placebo oral tablet
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 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
47 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
48 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of the Safety and Efficacy of Interferon Gamma-1b in Patients With Idiopathic Pulmonary Fibrosis (The INSPIRE Trial) Terminated NCT00075998 Phase 3 Interferon gamma-1b ("Actimmune")
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 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

Search NIH Clinical Center for Pulmonary Fibrosis, Idiopathic

Inferred drug relations via UMLS 71 / 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 8932)
# 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. 57 6 61
21506741 2011
3
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 6 61 57
21506748 2011
4
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 61 6 57
19100526 2009
5
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. 61 6
30345907 2018
6
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 6 61
25848748 2015
7
Prostaglandin F(2alpha) receptor signaling facilitates bleomycin-induced pulmonary fibrosis independently of transforming growth factor-beta. 57 61
19966781 2009
8
MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility. 61 57
19363685 2009
9
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 61 57
18753630 2008
10
The lysophosphatidic acid receptor LPA1 links pulmonary fibrosis to lung injury by mediating fibroblast recruitment and vascular leak. 61 57
18066075 2008
11
Caveolin-1: a critical regulator of lung fibrosis in idiopathic pulmonary fibrosis. 57 61
17178917 2006
12
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. 61 57
16773575 2006
13
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. 61 57
16133177 2005
14
Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 57 61
13680361 2003
15
Idiopathic pulmonary fibrosis. 57 61
11519507 2001
16
Hamman-Rich syndrome revisited. 61 57
2255216 1990
17
Platelet-derived growth factor in idiopathic pulmonary fibrosis. 57 61
2170444 1990
18
Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members. 57 61
3702942 1986
19
Familial lung disease associated with proliferation and desquamation of type II pneumonocytes. 57 61
3946361 1986
20
Idiopathic pulmonary fibrosis in monozygotic twins. The importance of genetic predisposition. 57 61
7191366 1980
21
Collagenase in the lower respiratory tract of patients with idiopathic pulmonary fibrosis. 61 57
225666 1979
22
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS. A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 57
14338292 1965
23
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS: A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 61 57
14275423 1964
24
Rare variants in RTEL1 are associated with familial interstitial pneumonia. 6
25607374 2015
25
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 6
23453664 2013
26
Angiotensin-converting enzyme 2 protects from severe acute lung failure. 57
16001071 2005
27
Circulating fibrocytes traffic to the lungs in response to CXCL12 and mediate fibrosis. 57
15286810 2004
28
Bone marrow-derived progenitor cells in pulmonary fibrosis. 57
14722616 2004
29
Adult familial cryptogenic fibrosing alveolitis in the United Kingdom. 57
10639533 2000
30
Occupational exposure to metal or wood dust and aetiology of cryptogenic fibrosing alveolitis. 57
8569361 1996
31
Circulating fibrocytes define a new leukocyte subpopulation that mediates tissue repair. 57
8790603 1994
32
Simultaneous occurrence of pulmonary interstitial fibrosis and alveolar cell carcinoma in one family. 57
6269246 1981
33
Familial chronic interstitial pneumonia. 57
4198347 1973
34
A new look at the Hamman-Rich syndrome. 57
4636397 1972
35
Familial Hamman-Rich syndrome. Report of eight cases. 57
5763753 1969
36
Familial fibrocystic pulmonary dysplasia: a detailed family study. 57
5912179 1966
37
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 57
5942662 1966
38
FAMILIAL FIBROCYSTIC PULMONARY DYSPLASIA: OBSERVATIONS IN ONE FAMILY. 57
14272497 1965
39
FAMILIAL INTERSTITIAL PULMONARY FIBROSIS. 57
14238389 1964
40
CHRONIC DIFFUSE INTERSTITIAL PULMONARY FIBROSIS IN BROTHERS. 57
14114728 1964
41
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 57
13817571 1959
42
Congenital cystic disease of the lung with progressive pulmonary fibrosis and carcinomatosis. 57
13521603 1958
43
Repression of IP-10 by interactions between histone deacetylation and hypermethylation in idiopathic pulmonary fibrosis. 61 54
20404089 2010
44
The antifibrotic effects of plasminogen activation occur via prostaglandin E2 synthesis in humans and mice. 61 54
20501949 2010
45
Cytokine-dependent balance of mitogenic effects in primary human lung fibroblasts related to cyclic AMP signaling and phosphodiesterase 4 inhibition. 61 54
20082309 2010
46
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. 61 54
20502709 2010
47
Treatment with IFN-{alpha}, -{beta}, or -{gamma} is associated with collapsing focal segmental glomerulosclerosis. 54 61
20203164 2010
48
SPARC suppresses apoptosis of idiopathic pulmonary fibrosis fibroblasts through constitutive activation of beta-catenin. 61 54
20061390 2010
49
The role of endothelin-1 in the pathogenesis of idiopathic pulmonary fibrosis. 54 61
20055532 2010
50
[Endothelin receptor antagonists - their role in pulmonary medicine]. 61 54
20032843 2009

Variations for Pulmonary Fibrosis, Idiopathic

ClinVar genetic disease variations for Pulmonary Fibrosis, Idiopathic:

6 (show top 50) (show all 1511)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SFTPA2 NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) SNV Pathogenic 13199 rs121917737 10:81317020-81317020 10:79557264-79557264
2 SFTPA2 NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser) SNV Pathogenic 13200 rs121917738 10:81317119-81317119 10:79557363-79557363
3 LOC110806263 NM_198253.3(TERT):c.112del (p.Leu38fs) Deletion Pathogenic 39099 rs199422290 5:1294993-1294993 5:1294878-1294878
4 TERT NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) SNV Pathogenic 39101 rs199422293 5:1293545-1293545 5:1293430-1293430
5 LOC110806263 NM_198253.3(TERT):c.164T>A (p.Leu55Gln) SNV Pathogenic 36945 rs387907247 5:1294941-1294941 5:1294826-1294826
6 TERT NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) SNV Pathogenic 29899 rs199422294 5:1280331-1280331 5:1280216-1280216
7 LOC110806263 NM_198253.2(TERT):c.219+1G>A SNV Pathogenic 12738 rs199422309 5:1294885-1294885 5:1294770-1294770
8 TERT NM_198253.3(TERT):c.2240del (p.Val747fs) Deletion Pathogenic 12737 rs199422300 5:1278802-1278802 5:1278687-1278687
9 TERT NM_198253.3(TERT):c.2594G>A (p.Arg865His) SNV Pathogenic 12736 rs121918666 5:1266639-1266639 5:1266524-1266524
10 TERT NM_198253.2(TERT):c.2583-2A>C SNV Pathogenic 36944 rs111576740 5:1266652-1266652 5:1266537-1266537
11 TERT NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) SNV Pathogenic 39122 rs199422306 5:1253913-1253913 5:1253798-1253798
12 TERT NM_198253.3(TERT):c.*6_*182del Deletion Pathogenic 39123 rs199422308 5:1253661-1253837 5:1253546-1253722
13 TERT NM_198253.3(TERT):c.430G>A (p.Val144Met) SNV Pathogenic 39124 rs199422291 5:1294571-1294571 5:1294456-1294456
14 LOC110806263 NM_198253.3(TERT):c.97C>T (p.Pro33Ser) SNV Pathogenic 39127 rs199422289 5:1295008-1295008 5:1294893-1294893
15 TERC NR_001566.1(TERC):n.98G>A SNV Pathogenic 7327 rs199422268 3:169482751-169482751 3:169764963-169764963
16 PARN NM_002582.4(PARN):c.246-2A>G SNV Pathogenic 190468 rs751381953 16:14721046-14721046 16:14627189-14627189
17 PARN NM_002582.4(PARN):c.529C>T (p.Gln177Ter) SNV Pathogenic 190469 rs876661305 16:14704526-14704526 16:14610669-14610669
18 PARN NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) SNV Pathogenic 190471 rs777090017 16:14674731-14674731 16:14580874-14580874
19 RTEL1-TNFRSF6B NM_001283010.1(RTEL1):c.-68del Deletion Pathogenic 190472 rs863223336 20:62297419-62297419 20:63666066-63666066
20 RTEL1-TNFRSF6B NM_032957.4(RTEL1):c.1523C>T (p.Pro508Leu) SNV Pathogenic 190473 rs786205700 20:62319093-62319093 20:63687740-63687740
21 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.2005C>T (p.Gln669Ter) SNV Pathogenic 253011 rs1555811762 20:62320981-62320981 20:63689628-63689628
22 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.3371A>C (p.His1124Pro) SNV Pathogenic 190475 rs786205702 20:62326446-62326446 20:63695093-63695093
23 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) SNV Pathogenic 217285 rs146221660 20:62324601-62324601 20:63693248-63693248
24 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del) Deletion Pathogenic 217283 rs863225053 20:62321515-62321523 20:63690162-63690170
25 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.2219_2227del (p.His740_Ile742del) Deletion Pathogenic 217283 rs863225053 20:62321515-62321523 20:63690162-63690170
26 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) SNV Pathogenic 217285 rs146221660 20:62324601-62324601 20:63693248-63693248
27 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.1546G>C (p.Val516Leu) SNV Pathogenic 217519 rs748223349 20:62319354-62319354 20:63688001-63688001
28 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.1618T>G (p.Ser540Ala) SNV Pathogenic 217520 rs863225130 20:62319514-62319514 20:63688161-63688161
29 TERT NM_198253.3(TERT):c.336dup (p.Glu113fs) Duplication Pathogenic 410651 rs1060502990 5:1294664-1294665 5:1294549-1294550
30 TERT NM_198253.3(TERT):c.1044_1045CT[2] (p.Leu350fs) Microsatellite Pathogenic 539192 rs1554042899 5:1293952-1293953 5:1293837-1293838
31 TERT NM_198253.3(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) Microsatellite Pathogenic 539193 rs1554038257 5:1255448-1255449 5:1255333-1255334
32 RTEL1-TNFRSF6B NM_032957.4(RTEL1):c.607G>T (p.Glu203Ter) SNV Pathogenic 540926 rs1555899932 20:62294239-62294239 20:63662886-63662886
33 LOC110806263 NM_198253.3(TERT):c.180G>A (p.Trp60Ter) SNV Pathogenic 568038 rs1554043139 5:1294925-1294925 5:1294810-1294810
34 TERT NM_198253.3(TERT):c.688C>T (p.Arg230Ter) SNV Pathogenic 645232 rs989271195 5:1294313-1294313 5:1294198-1294198
35 TERT NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) SNV Pathogenic 656696 rs1561213355 5:1293551-1293551 5:1293436-1293436
36 RTEL1-TNFRSF6B NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs) Deletion Pathogenic 665122 rs1601133145 20:62309662-62309675 20:63678309-63678322
37 TERT NC_000005.10:g.(?_1280148)_(1280348_?)del Deletion Pathogenic 654662 5:1280263-1280463 5:1280148-1280348
38 TERT NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) Deletion Pathogenic 664605 rs1579580058 5:1282627-1282628 5:1282512-1282513
39 TERT NC_000005.10:g.(?_1280152)_(1280344_?)del Deletion Pathogenic 584005 5:1280267-1280459 5:1280152-1280344
40 EXOC3-AS1 NC_000005.10:g.(?_218349)_(1297373_?)del Deletion Pathogenic 831918 5:218464-1297488
41 RTEL1-TNFRSF6B NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) SNV Pathogenic 836446 20:62319502-62319502 20:63688149-63688149
42 RTEL1-TNFRSF6B NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) Deletion Pathogenic 839752 20:62324354-62324354 20:63693001-63693001
43 TERT NM_198253.3(TERT):c.2540dup (p.Asp848fs) Duplication Pathogenic 841032 5:1268676-1268677 5:1268561-1268562
44 TERT NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) SNV Pathogenic 843002 5:1293567-1293567 5:1293452-1293452
45 RTEL1-TNFRSF6B NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) SNV Pathogenic 846262 20:62293262-62293262 20:63661909-63661909
46 TERT NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs) Deletion Pathogenic 850129 5:1293830-1293845 5:1293715-1293730
47 TERT NM_198253.2(TERT):c.2320C>T (p.Arg774Ter) SNV Pathogenic 446373 rs770066110 5:1272362-1272362 5:1272247-1272247
48 TERT NM_198253.3(TERT):c.1743G>A (p.Trp581Ter) SNV Pathogenic 842734 5:1282570-1282570 5:1282455-1282455
49 RTEL1-TNFRSF6B NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) Deletion Pathogenic 842863 20:62326272-62326272 20:63694919-63694919
50 EXOC3-AS1 NC_000005.10:g.(?_218346)_(1295046_?)del Deletion Pathogenic 831255 5:218461-1295161

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

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
11.53 SFTPD SFTPC SFTPA2 SFTPA1
2 11.27 TGFB1 TERT STN1 SFTPC SFTPA2 SFTPA1
3
Show member pathways
11.16 SFTPD SFTPA2 SFTPA1
4
Show member pathways
10.99 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
5
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 10.03 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
2 collagen trimer GO:0005581 9.63 SFTPD SFTPA2 SFTPA1
3 chromosome, telomeric region GO:0000781 9.62 TERT TERC STN1 RTEL1
4 rough endoplasmic reticulum GO:0005791 9.58 SFTPD SFTPA2 SFTPA1
5 telomerase holoenzyme complex GO:0005697 9.48 TERT TERC
6 multivesicular body GO:0005771 9.43 SFTPD SFTPA2 SFTPA1
7 alveolar lamellar body GO:0097208 9.37 SFTPC ABCA3
8 telomerase catalytic core complex GO:0000333 9.16 TERT TERC
9 lamellar body GO:0042599 9.13 SFTPC SFTPA2 SFTPA1
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 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 DNA biosynthetic process GO:0071897 9.5 TERT TERC CCN2
4 telomere maintenance via telomerase GO:0007004 9.49 TERT TERC
5 regulation of double-strand break repair via homologous recombination GO:0010569 9.48 RTEL1-TNFRSF6B RTEL1
6 phospholipid homeostasis GO:0055091 9.46 TGFB1 ABCA3
7 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.43 TGFB1 TERT
8 connective tissue development GO:0061448 9.4 TGFB1 CCN2
9 surfactant homeostasis GO:0043129 9.33 TGFB1 SFTPD ABCA3
10 telomere maintenance GO:0000723 9.26 TERT STN1 RTEL1-TNFRSF6B RTEL1
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 telomerase RNA binding GO:0070034 9.37 TERT PARN
2 DNA polymerase binding GO:0070182 9.32 TERC RTEL1
3 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.26 RTEL1-TNFRSF6B RTEL1
4 RNA-directed DNA polymerase activity GO:0003964 9.16 TERT TERC
5 telomerase activity GO:0003720 8.96 TERT TERC
6 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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