Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
ILD2
MCID: INT457
MIFTS: 76

Interstitial Lung Disease 2 (ILD2)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Interstitial Lung Disease 2

About this section

MalaCards integrated aliases for Interstitial Lung Disease 2:

Name: Interstitial Lung Disease 2 57 73 36
Idiopathic Pulmonary Fibrosis 11 19 42 58 75 28 5 43 14 63 16 71 33
Fibrocystic Pulmonary Dysplasia 57 11 19 73
Ipf 57 42 58 73
Pulmonary Fibrosis, Idiopathic, Susceptibility to 57 28 5
Pulmonary Fibrosis, Idiopathic 57 73 12
Idiopathic Pulmonary Fibrosis, Familial 57 11
Fibrosing Alveolitis, Cryptogenic 57 19
Cryptogenic Fibrosing Alveolitis 11 42
Usual Interstitial Pneumonia 42 75
Fibrosing Alveolitis 19 33
Ild2 57 73
Uip 57 73
Idiopathic Fibrosing Alveolitis, Chronic Form 42
Familial Idiopathic Pulmonary Fibrosis 19
Idiopathic Pulmonary Fibrosis Familial 73
Chronic Idiopathic Pulmonary Fibrosis 71
Ipf - [idiopathic Pulmonary Fibrosis] 33
Fibrosing Alveolitis Cryptogenic 73
Interstitial Pneumonitis, Usual 57
Fibrosis, Pulmonary, Idiopathic 38
Interstitial Pulmonary Fibrosis 33
Interstitial Pneumonitis Usual 73
Fibrosis Idiopathic Pulmonary 53
Acute Interstitial Pneumonia 71
Idiopathic Lung Fibrosis 33
Fibrosing Lung Disease 33
Pulmonary Fibrosis Nos 33
Fibrosing Pneumonitis 33
Hamman-Rich Syndrome 71
Hamman-Rich Disease 73

Characteristics:


Inheritance:

Interstitial Lung Disease 2: Autosomal dominant 57
Idiopathic Pulmonary Fibrosis: Multigenic/multifactorial 58

Prevelance:

Idiopathic Pulmonary Fibrosis: 1-5/10000 (Europe, Norway, Czech Republic) 1-9/100000 (Belgium, Norway, Greece, Japan, Taiwan, Province of China) 1-9/1000000 (Belgium, Czech Republic, Greece) 58

Age Of Onset:

Idiopathic Pulmonary Fibrosis: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity
adult onset
incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Respiratory diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 11 DOID:0050156
OMIM® 57 178500
OMIM Phenotypic Series 57 PS619611
ICD9CM 34 516.31
MeSH 43 D054990
NCIt 49 C35716
SNOMED-CT 68 28168000
MESH via Orphanet 44 D054990
ICD10 via Orphanet 32 J84.1
UMLS via Orphanet 72 C0085786 C1800706
Orphanet 58 ORPHA2032
ICD11 33 1074069640
UMLS 71 C0085786 C1279945 C1800706 more
Sources

Summaries for Interstitial Lung Disease 2

About this section

OMIM®: 57 Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by Gross and Hunninghake, 2001; summary by Legendre et al., 2020). 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). Gross and Hunninghake (2001) reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. Antoniou et al. (2004) provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis. For a discussion of genetic heterogeneity of ILD, see ILD1 (619611). 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 08-Dec-2022)

MalaCards based summary: Interstitial Lung Disease 2, also known as idiopathic pulmonary fibrosis, is related to pulmonary fibrosis and pneumoconiosis, and has symptoms including dyspnea on exertion and dry cough. An important gene associated with Interstitial Lung Disease 2 is SFTPA2 (Surfactant Protein A2), and among its related pathways/superpathways are Diseases of glycosylation and Complement cascade. 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 bronchiectasis

MedlinePlus Genetics: 42 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.

PubMed Health : 63 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.

UniProtKB/Swiss-Prot: 73 A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD2 inheritance is autosomal dominant.

GARD: 19 Idiopathic pulmonary fibrosis 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. Idiopathic pulmonary fibrosis is 'idiopathic' which means the cause is unknown. When multiple family members are affected, it is called familial IPF.

Orphanet: 58 An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.

Disease Ontology: 11 A pulmonary fibrosis that is characterized by scarring of the lung.

Wikipedia 75 Idiopathic pulmonary fibrosis: Idiopathic pulmonary fibrosis (IPF), or (formerly) fibrosing alveolitis, is a rare, progressive illness... more...

Usual interstitial pneumonia: Usual interstitial pneumonia (UIP) is a form of lung disease characterized by progressive scarring of... more...
Sources

Related Diseases for Interstitial Lung Disease 2

About this section

Diseases in the Interstitial Lung Disease family:

Interstitial Lung Disease 2 Interstitial Lung Disease 1

Diseases related to Interstitial Lung Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 600)
# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis 31.9 TGFB1 TERT TERC SFTPD SFTPC SFTPA2
2 pneumoconiosis 31.8 TGFB1 CCN2 CCL2
3 nonspecific interstitial pneumonia 31.7 TERC SFTPD SFTPC SFTPA2 RTEL1 PARN
4 pulmonary disease, chronic obstructive 31.7 TGFB1 SFTPD CCN2 CCL2
5 interstitial pneumonitis, desquamative, familial 31.7 TERC SFTPD SFTPC SFTPA2 MUC5B ABCA3
6 respiratory failure 31.5 SFTPD SFTPC CCL2 ABCA3
7 idiopathic interstitial pneumonia 31.5 TERT TERC SFTPD SFTPC SFTPA2 SFTPA1
8 pneumonia 31.5 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B CCL2
9 dyskeratosis congenita 31.5 TERT TERC STN1 SFTPA2 RTEL1-TNFRSF6B RTEL1
10 silicosis 31.4 TGFB1 SFTPD FAM13A CCL2
11 aspergillosis 31.4 SFTPD SFTPA2 SFTPA1
12 rheumatoid arthritis interstitial lung disease 31.3 SFTPD PARN MUC5B
13 pulmonary alveolar proteinosis 31.3 SFTPD SFTPC SFTPA1 CCL2
14 cystic fibrosis 31.3 TGFB1 SFTPD SFTPC SFTPA1 MUC5B CCL2
15 interstitial lung disease 31.2 TGFB1 TERT SFTPD SFTPC SFTPA2 SFTPA1
16 lung disease 31.2 TGFB1 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B
17 anthracosis 31.1 MUC5B CCL2
18 diffuse pulmonary fibrosis 31.0 ATP11A ABCA3
19 pulmonary interstitial emphysema 30.9 SFTPD SFTPC ABCA3
20 otitis media 30.9 SFTPD SFTPA2 SFTPA1 MUC5B CCL2
21 newborn respiratory distress syndrome 30.9 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
22 aplastic anemia 30.9 TERT TERC RTEL1 PARN
23 extrinsic allergic alveolitis 30.7 SFTPD MUC5B CCL2
24 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 30.7 TERT LOC110806263
25 acute interstitial pneumonia 30.7 SFTPD SFTPC SFTPA2 MUC5B
26 lymphoid interstitial pneumonia 30.6 TGFB1 TERT TERC MUC5B
27 cryptogenic organizing pneumonia 30.6 SFTPD SFTPC
28 microscopic polyangiitis 30.6 TERT DSP
29 bird fancier's lung 30.5 SFTPD MUC5B
30 renal fibrosis 30.4 TGFB1 CCN2 CCL2
31 asthma 30.3 TGFB1 SFTPD SFTPC MUC5B CCN2 CCL2
32 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.4
33 localized pulmonary fibrosis 11.2
34 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.2
35 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 11.2
36 interstitial lung disease 1 11.1
37 hypertension, essential 10.7
38 pulmonary immaturity 10.7 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
39 melanoma, cutaneous malignant 1 10.7 TERT TERC STN1 RTEL1 LOC110806263
40 neonatal respiratory failure 10.7 SFTPD SFTPC SFTPA2 ABCA3
41 hoyeraal hreidarsson syndrome 10.7 TERT TERC RTEL1 PARN
42 revesz syndrome 10.7 TERT TERC RTEL1 PARN
43 diarrhea 10.6
44 dyskeratosis congenita autosomal recessive 10.6 TERT RTEL1 PARN
45 respiratory distress syndrome in premature infants 10.6 SFTPC SFTPA1 ABCA3
46 allergic bronchopulmonary aspergillosis 10.6 SFTPD SFTPA2 SFTPA1
47 middle ear disease 10.6 SFTPA2 SFTPA1 MUC5B
48 coats disease 10.6 TERC RTEL1 PARN
49 ureteral disease 10.6 TGFB1 CCN2 CCL2
50 obstructive nephropathy 10.6 TGFB1 CCN2 CCL2

Graphical network of the top 20 diseases related to Interstitial Lung Disease 2:



Diseases related to Interstitial Lung Disease 2
Sources

Symptoms & Phenotypes for Interstitial Lung Disease 2

About this section

Human phenotypes related to Interstitial Lung Disease 2:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002020
2 bronchiectasis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002110
3 cough 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012735
4 pulmonary fibrosis 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002206
5 exertional dyspnea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002875
6 crackles 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030830
7 clubbing of fingers 58 30 Very rare (1%) Frequent (79-30%)
 HP:0100759
8 honeycomb lung 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025175
9 reticular pattern on pulmonary hrct 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025390
10 ground-glass opacification 30 Frequent (33%) HP:0025179
11 pulmonary insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0010444
12 cirrhosis 30 HP:0001394
13 dyspnea 30 HP:0002094
14 pulmonary arterial hypertension 30 HP:0002092
15 interstitial pulmonary abnormality 58 Very frequent (99-80%)
16 ground-glass opacification on pulmonary hrct 58 Frequent (79-30%)
17 decreased dlco 30 HP:0045051
18 usual interstitial pneumonia 30 HP:0031950
19 increased circulating antibody level 30 HP:0010702
20 alveolar cell carcinoma 30 HP:0006519
21 elevated bronchoalveolar lavage fluid neutrophil proportion 30 HP:0032977

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory Lung:
dyspnea
cough
type ii pneumocyte hyperplasia
interstitial lung disease
pulmonary fibrosis with fibroblast foci seen on histology
more
Cardiovascular Vascular:
pulmonary hypertension, severe (in end-stage disease)

Skeletal Hands:
digital clubbing

Neoplasia:
increased risk of alveolar cell carcinoma
bronchogenic carcinoma
adenocarcinoma of lung

Clinical features from OMIM®:

178500 (Updated 08-Dec-2022)

UMLS symptoms related to Interstitial Lung Disease 2:


dyspnea on exertion; dry cough

MGI Mouse Phenotypes related to Interstitial Lung Disease 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCA3 ATP11A CCL2 CCN2 DPP9 FAM13A
2 respiratory system MP:0005388 9.65 ABCA3 ATP11A CCN2 MUC5B SFTPA1 SFTPA2
3 mortality/aging MP:0010768 9.5 ABCA3 ATP11A CCL2 CCN2 DPP9 DSP
Sources

Drugs & Therapeutics for Interstitial Lung Disease 2

About this section

PubMed Health treatment related to Interstitial Lung Disease 2: 63

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

Drugs for Interstitial Lung Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 183)
# 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 135423438 9809715
3 Anti-Inflammatory Agents, Non-Steroidal Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Analgesics Phase 4
6 Protein Kinase Inhibitors Phase 4
7
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
10
Morphine Approved, Investigational Phase 3 57-27-2 5288826
11
Dexlansoprazole Approved, Investigational Phase 3 138530-94-6 9578005
12
Lansoprazole Approved, Investigational Phase 3 103577-45-3 3883
13
Treprostinil Approved, Investigational Phase 3 81846-19-7 6918140
14
Azathioprine Approved Phase 3 446-86-6 2265
15
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
16
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
17
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
18
Sulfamethoxazole Approved Phase 3 723-46-6 5329
19
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
20
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
21
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
22
Warfarin Approved Phase 3 81-81-2, 129-06-6 54678486
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
24 Immunoglobulins, Intravenous Phase 3
25 Immunoglobulins Phase 3
26 Immunoglobulin G Phase 3
27 Antibodies Phase 3
28 Hormones Phase 3
29 Hormone Antagonists Phase 3
30 glucocorticoids Phase 3
31 Antineoplastic Agents, Hormonal Phase 3
32 gamma-Globulins Phase 3
33 Rho(D) Immune Globulin Phase 3
34
Imatinib Mesylate Phase 2, Phase 3 220127-57-1
35 Antilymphocyte Serum Phase 3
36 Anti-Ulcer Agents Phase 3
37 Antacids Phase 3
38 Proton Pump Inhibitors Phase 3
39 Gastrointestinal Agents Phase 3
40 Analgesics, Opioid Phase 3
41 Narcotics Phase 3
42 Immunosuppressive Agents Phase 3
43 interferons Phase 3
44 Anti-Bacterial Agents Phase 3
45 Folate Phase 3
46 Vitamin B9 Phase 3
47 Antiprotozoal Agents Phase 3
48 Antiparasitic Agents Phase 3
49 Vitamin B Complex Phase 3
50 Antimalarials Phase 3

Interventional clinical trials:

(show top 50) (show all 433)
# Name Status NCT ID Phase Drugs
1 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
2 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
3 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
4 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
5 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
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 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 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
12 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
13 Minocycline Treatment in Patients With Idiopathic Pulmonary Fibrosis Being Treated With Standard of Care Therapy- a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
14 Determining the Effectiveness of Nebulized Morphine in Treating Dyspnea in Advanced Idiopathic Pulmonary Fibrosis Unknown status NCT04497831 Phase 3 Morphine hydrochloride;Placebo
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 An Open-Label Extension Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3 pirfenidone
17 Open-Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321 (NCT00391443) Completed NCT00631475 Phase 3 Bosentan
18 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
19 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3 Sildenafil Citrate
20 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
21 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
22 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
23 Treatment of Chronic Cough in Idiopathic Pulmonary Fibrosis With Thalidomide Completed NCT00600028 Phase 3 Thalidomide;Placebo
24 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 Nintedanib
25 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
26 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
27 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
28 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
29 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)
30 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
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 NCT01335464 Phase 3 placebo;BIBF 1120
33 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
34 A 52 Weeks, Double Blind, Randomized, Placebo-controlled Trial Evaluating the Effect of Oral BIBF 1120, 150 mg Twice Daily, on Annual Forced Vital Capacity Decline, in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01335477 Phase 3 placebo;BIBF 1120
35 A 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 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 (Zinpentraxin Alfa)
37 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study of the Efficacy and Safety of Inhaled Treprostinil in Subjects With Idiopathic Pulmonary Fibrosis Recruiting NCT04708782 Phase 3 Placebo;Inhaled Treprostinil
38 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 (Zinpentraxin Alfa);Placebo
39 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
40 A Double Blind, Randomized, Placebo-controlled Trial Evaluating the Efficacy and Safety of BI 1015550 Over at Least 52 Weeks in Patients With Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT05321069 Phase 3 BI 1015550;Placebo
41 A Randomized, Double-blind, Placebo-controlled, Multinational, Phase 3 Study of the Efficacy and Safety of Inhaled Treprostinil in Subjects With Idiopathic Pulmonary Fibrosis (TETON-2) Recruiting NCT05255991 Phase 3 Placebo;Inhaled Treprostinil
42 The Effectiveness and Risks of Treating People With Idiopathic Pulmonary Fibrosis With the Addition of Lansoprazole: a Randomised Placebo-controlled Multi-centre Clinical Trial Recruiting NCT04965298 Phase 3 Lansoprazole
43 Prospective Treatment Efficacy in IPF Using Genotype for Nac Selection (PRECISIONS) Trial Recruiting NCT04300920 Phase 3 N-acetyl cysteine;Placebo
44 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
45 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Pamrevlumab in Subjects With Idiopathic Pulmonary Fibrosis (IPF) Active, not recruiting NCT03955146 Phase 3 Pamrevlumab;Placebo
46 An Open-label Extension Study of Inhaled Treprostinil in Subjects With Idiopathic Pulmonary Fibrosis Enrolling by invitation NCT04905693 Phase 3 Inhaled Treprostinil
47 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 Terminated NCT03711162 Phase 3 GLPG1690;Placebo
48 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
49 A Phase 3, Randomized, Double-blind, Parallel-group, Placebo-controlled, Multi-center Study to Evaluate the Efficacy and Safety of Two Doses of GLPG1690 in Addition to Local Standard of Care for Minimum 52 Weeks in Subjects With Idiopathic Pulmonary Fibrosis Terminated NCT03733444 Phase 3 GLPG1690;Placebo
50 Study of Clinical Efficacy of Antimicrobial Therapy Strategy Using Pragmatic Design in Idiopathic Pulmonary Fibrosis Terminated NCT02759120 Phase 3 Antimicrobial therapy: Co-trimoxazole or Doxycycline

Search NIH Clinical Center for Interstitial Lung Disease 2

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


nintedanib

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Interstitial Lung Disease 2 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Interstitial Lung Disease 2:
Mesenchymal stem cells for idiopathic pulmonary fibrosis
Mesenchymal stem cells for lung fibrosis
StemGenex, adipose-derived stem cells for idiopathic pulmonary fibrosis
Embryonic/Adult Cultured Cells Related to Interstitial Lung Disease 2:
Placenta-derived mesenchymal stem cells (family)
Mouse bone marrow-derived mesenchymal stem cells (family) PMIDs: 20801416 17569781 18625757
Adipose-derived stem cells (StemGenex) PMIDs: 23855653 22017817

Cochrane evidence based reviews: idiopathic pulmonary fibrosis

Sources

Genetic Tests for Interstitial Lung Disease 2

About this section

Genetic tests related to Interstitial Lung Disease 2:

# Genetic test Affiliating Genes
1 Idiopathic Pulmonary Fibrosis 28 MUC5B SFTPA2 SFTPC TERT
2 Pulmonary Fibrosis, Idiopathic, Susceptibility to 28
Sources

Anatomical Context for Interstitial Lung Disease 2

About this section

Organs/tissues related to Interstitial Lung Disease 2:

MalaCards : Lung, Bone Marrow, Heart, Brain, Placenta, Bone, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Interstitial Lung Disease 2

About this section

Articles related to Interstitial Lung Disease 2:

(show top 50) (show all 13338)
# Title Authors PMID Year
1
MUC5B promoter polymorphism and interstitial lung abnormalities. 62 57 5
23692170 2013
2
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 62 57 5
21506748 2011
3
A common MUC5B promoter polymorphism and pulmonary fibrosis. 62 57 5
21506741 2011
4
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 62 57 5
19100526 2009
5
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. 53 62 5
20502709 2010
6
Telomerase mutations in families with idiopathic pulmonary fibrosis. 53 62 5
17392301 2007
7
Pathogenic TERT promoter variants in telomere diseases. 62 5
30523342 2019
8
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. 62 5
30345907 2018
9
A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis. 62 5
25926289 2015
10
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 62 5
25553246 2014
11
Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. 62 5
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. 62 5
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. 62 5
23940607 2013
14
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features. 62 5
22853774 2012
15
hTERT mutations associated with idiopathic pulmonary fibrosis affect telomerase activity, telomere length, and cell growth by distinct mechanisms. 62 5
22364217 2012
16
Prostaglandin F(2alpha) receptor signaling facilitates bleomycin-induced pulmonary fibrosis independently of transforming growth factor-beta. 62 57
19966781 2009
17
MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility. 62 57
19363685 2009
18
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 62 57
18753630 2008
19
The lysophosphatidic acid receptor LPA1 links pulmonary fibrosis to lung injury by mediating fibroblast recruitment and vascular leak. 62 57
18066075 2008
20
Adult-onset pulmonary fibrosis caused by mutations in telomerase. 62 5
17460043 2007
21
Caveolin-1: a critical regulator of lung fibrosis in idiopathic pulmonary fibrosis. 62 57
17178917 2006
22
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. 62 57
16773575 2006
23
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. 62 57
16133177 2005
24
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 62 5
16247010 2005
25
Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 62 57
13680361 2003
26
Idiopathic pulmonary fibrosis. 62 57
11519507 2001
27
Adult familial cryptogenic fibrosing alveolitis in the United Kingdom. 62 57
10639533 2000
28
Occupational exposure to metal or wood dust and aetiology of cryptogenic fibrosing alveolitis. 62 57
8569361 1996
29
Hamman-Rich syndrome revisited. 62 57
2255216 1990
30
Platelet-derived growth factor in idiopathic pulmonary fibrosis. 62 57
2170444 1990
31
Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members. 62 57
3702942 1986
32
Simultaneous occurrence of pulmonary interstitial fibrosis and alveolar cell carcinoma in one family. 62 57
6269246 1981
33
Idiopathic pulmonary fibrosis in monozygotic twins. The importance of genetic predisposition. 62 57
7191366 1980
34
Collagenase in the lower respiratory tract of patients with idiopathic pulmonary fibrosis. 62 57
225666 1979
35
Familial fibrocystic pulmonary dysplasia: a detailed family study. 62 57
5912179 1966
36
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. 62 57
5942662 1966
37
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS. A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 62 57
14338292 1965
38
FAMILIAL FIBROCYSTIC PULMONARY DYSPLASIA: OBSERVATIONS IN ONE FAMILY. 62 57
14272497 1965
39
FAMILIAL INTERSTITIAL PULMONARY FIBROSIS. 62 57
14238389 1964
40
CHRONIC DIFFUSE INTERSTITIAL PULMONARY FIBROSIS IN BROTHERS. 62 57
14114728 1964
41
A FAMILY STUDY OF IDIOPATHIC PULMONARY FIBROSIS: A POSSIBLE DYSPROTEINEMIC AND GENETICALLY DETERMINED DISEASE. 62 57
14275423 1964
42
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. 62 57
13817571 1959
43
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer. 5
32855221 2020
44
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 5
29483670 2018
45
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 5
28102861 2017
46
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis. 5
27836952 2016
47
Triallelic and epigenetic-like inheritance in human disorders of telomerase. 5
26024875 2015
48
Rare variants in RTEL1 are associated with familial interstitial pneumonia. 5
25607374 2015
49
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
50
Two-step mechanism involving active-site conformational changes regulates human telomerase DNA binding. 5
25365545 2015
Sources

Variations for Interstitial Lung Disease 2

About this section

ClinVar genetic disease variations for Interstitial Lung Disease 2:

5 (show top 50) (show all 1930)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOLLIP NM_019009.4(TOLLIP):c.184-1067G>C SNV Association
 1162781 GRCh37: 11:1312706-1312706
GRCh38: 11:1291476-1291476
2 FAM13A NM_014883.4(FAM13A):c.843+16335C>A SNV Association
 1162779 GRCh37: 4:89811195-89811195
GRCh38: 4:88890044-88890044
3 TERT NM_198253.3(TERT):c.1574-3777G>T SNV Association
Benign
 375480 rs2736100 GRCh37: 5:1286516-1286516
GRCh38: 5:1286401-1286401
4 DSP NM_004415.4(DSP):c.726+219T>G SNV Association
 672128 rs2076295 GRCh37: 6:7563232-7563232
GRCh38: 6:7562999-7562999
5 TERT NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) SNV Pathogenic
Pathogenic
 29899 rs199422294 GRCh37: 5:1280331-1280331
GRCh38: 5:1280216-1280216
6 RTEL1-TNFRSF6B, RTEL1 NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) SNV Pathogenic
 42018 rs201540674 GRCh37: 20:62326972-62326972
GRCh38: 20:63695619-63695619
7 SFTPA2 NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) SNV Pathogenic
 985062 rs371035540 GRCh37: 10:81317180-81317180
GRCh38: 10:79557424-79557424
8 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) SNV Pathogenic
 42020 rs398123017 GRCh37: 20:62324564-62324564
GRCh38: 20:63693211-63693211
9 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.958+2dup DUP Pathogenic
 217517 rs869312855 GRCh37: 20:62309537-62309538
GRCh38: 20:63678184-63678185
10 SFTPA2 NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val) SNV Pathogenic
 13199 rs121917737 GRCh37: 10:81317020-81317020
GRCh38: 10:79557264-79557264
11 TERT NM_198253.3(TERT):c.2594G>A (p.Arg865His) SNV Pathogenic
Pathogenic
 12736 rs121918666 GRCh37: 5:1266639-1266639
GRCh38: 5:1266524-1266524
12 TERT NM_198253.3(TERT):c.1612G>T (p.Glu538Ter) SNV Pathogenic
 1435798 GRCh37: 5:1282701-1282701
GRCh38: 5:1282586-1282586
13 TERT NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs) DUP Pathogenic
 1434641 GRCh37: 5:1280350-1280351
GRCh38: 5:1280235-1280236
14 TERT NM_198253.3(TERT):c.2461del (p.Arg821fs) DEL Pathogenic
 1457059 GRCh37: 5:1271241-1271241
GRCh38: 5:1271126-1271126
15 TERT NM_198253.3(TERT):c.598G>T (p.Glu200Ter) SNV Pathogenic
 1397003 GRCh37: 5:1294403-1294403
GRCh38: 5:1294288-1294288
16 TERT NM_198253.3(TERT):c.996del (p.Tyr333fs) DEL Pathogenic
 1437767 GRCh37: 5:1294005-1294005
GRCh38: 5:1293890-1293890
17 TERT NM_198253.3(TERT):c.329del (p.Gly110fs) DEL Pathogenic
 1459137 GRCh37: 5:1294672-1294672
GRCh38: 5:1294557-1294557
18 LOC110806263, TERT NM_198253.3(TERT):c.10_11dup (p.Pro5fs) MICROSAT Pathogenic
 1418828 GRCh37: 5:1295093-1295094
GRCh38: 5:1294978-1294979
19 TERT NM_198253.3(TERT):c.2540dup (p.Asp848fs) DUP Pathogenic
 841032 rs1748786633 GRCh37: 5:1268676-1268677
GRCh38: 5:1268561-1268562
20 TERT NM_198253.3(TERT):c.1314del (p.Glu439fs) DEL Pathogenic
 1069288 GRCh37: 5:1293687-1293687
GRCh38: 5:1293572-1293572
21 LOC110806263, TERT NM_198253.3(TERT):c.198dup (p.Ala67fs) DUP Pathogenic
 1070657 GRCh37: 5:1294906-1294907
GRCh38: 5:1294791-1294792
22 TERT NM_198253.3(TERT):c.1424del (p.Pro475fs) DEL Pathogenic
 1073945 GRCh37: 5:1293577-1293577
GRCh38: 5:1293462-1293462
23 TERT NC_000005.9:g.(?_1253843)_(1297488_?)del DEL Pathogenic
 1074267 GRCh37: 5:1253843-1297488
GRCh38:
24 TERT NC_000005.9:g.(?_1287194)_(1297488_?)del DEL Pathogenic
 1074268 GRCh37: 5:1287194-1297488
GRCh38:
25 TERT NM_198253.3(TERT):c.2098C>T (p.Gln700Ter) SNV Pathogenic
 242222 rs878855300 GRCh37: 5:1279438-1279438
GRCh38: 5:1279323-1279323
26 TERT NM_198253.3(TERT):c.3235del (p.Leu1079fs) DEL Pathogenic
 1075528 GRCh37: 5:1254543-1254543
GRCh38: 5:1254428-1254428
27 TERT NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter) SNV Pathogenic
 937831 rs1747568641 GRCh37: 5:1254567-1254567
GRCh38: 5:1254452-1254452
28 SFTPA2 NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile) SNV Pathogenic
 1322020 GRCh37: 10:81317200-81317200
GRCh38: 10:79557444-79557444
29 SFTPA2 NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg) SNV Pathogenic
 1325405 GRCh37: 10:81317015-81317015
GRCh38: 10:79557259-79557259
30 TERT NM_198253.3(TERT):c.1122del (p.Thr375fs) DEL Pathogenic
 1379443 GRCh37: 5:1293879-1293879
GRCh38: 5:1293764-1293764
31 LOC110806263, TERT NM_198253.3(TERT):c.247C>T (p.Arg83Ter) SNV Pathogenic
 1381898 GRCh37: 5:1294754-1294754
GRCh38: 5:1294639-1294639
32 TERT NM_198253.3(TERT):c.923dup (p.Ser309fs) DUP Pathogenic
 1357479 GRCh37: 5:1294077-1294078
GRCh38: 5:1293962-1293963
33 TERT NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs) DEL Pathogenic
 1379483 GRCh37: 5:1272352-1272367
GRCh38: 5:1272237-1272252
34 TERT NM_198253.3(TERT):c.767G>A (p.Trp256Ter) SNV Pathogenic
 1421091 GRCh37: 5:1294234-1294234
GRCh38: 5:1294119-1294119
35 SFTPA2 NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser) SNV Pathogenic
 13200 rs121917738 GRCh37: 10:81317119-81317119
GRCh38: 10:79557363-79557363
36 TERT NM_198253.3(TERT):c.2583-2A>C SNV Pathogenic
 36944 rs111576740 GRCh37: 5:1266652-1266652
GRCh38: 5:1266537-1266537
37 TERT NM_198253.3(TERT):c.*6_*182del DEL Pathogenic
 39123 rs199422308 GRCh37: 5:1253661-1253837
GRCh38: 5:1253546-1253722
38 TERC NR_001566.1(TERC):n.98G>A SNV Pathogenic
 7327 rs199422268 GRCh37: 3:169482751-169482751
GRCh38: 3:169764963-169764963
39 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) DEL Pathogenic
 217283 rs863225053 GRCh37: 20:62321515-62321523
GRCh38: 20:63690162-63690170
40 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.1482-1G>A SNV Pathogenic
 217518 rs863225129 GRCh37: 20:62319289-62319289
GRCh38: 20:63687936-63687936
41 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) SNV Pathogenic
 217285 rs146221660 GRCh37: 20:62324601-62324601
GRCh38: 20:63693248-63693248
42 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu) SNV Pathogenic
 217519 rs748223349 GRCh37: 20:62319354-62319354
GRCh38: 20:63688001-63688001
43 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.2413+1G>C SNV Pathogenic
 217284 rs776744306 GRCh37: 20:62321795-62321795
GRCh38: 20:63690442-63690442
44 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) SNV Pathogenic
 217520 rs863225130 GRCh37: 20:62319514-62319514
GRCh38: 20:63688161-63688161
45 TERT NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer) MICROSAT Pathogenic
 539193 rs1554038257 GRCh37: 5:1255448-1255449
GRCh38: 5:1255333-1255334
46 LOC110806263, TERT NM_198253.3(TERT):c.180G>A (p.Trp60Ter) SNV Pathogenic
 568038 rs1554043139 GRCh37: 5:1294925-1294925
GRCh38: 5:1294810-1294810
47 TERT NC_000005.10:g.(?_1280152)_(1280344_?)del DEL Pathogenic
 584005 GRCh37: 5:1280267-1280459
GRCh38: 5:1280152-1280344
48 TERT NM_198253.3(TERT):c.688C>T (p.Arg230Ter) SNV Pathogenic
 645232 rs989271195 GRCh37: 5:1294313-1294313
GRCh38: 5:1294198-1294198
49 TERT NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) SNV Pathogenic
 656696 rs1561213355 GRCh37: 5:1293551-1293551
GRCh38: 5:1293436-1293436
50 TERT NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) DEL Pathogenic
 664605 rs1579580058 GRCh37: 5:1282627-1282628
GRCh38: 5:1282512-1282513

UniProtKB/Swiss-Prot genetic disease variations for Interstitial Lung Disease 2:

73
# Symbol AA change Variation ID SNP ID
1 SFTPA2 p.Phe198Ser VAR_063519 rs121917738
2 SFTPA2 p.Gly231Val VAR_063520 rs121917737
3 SFTPA2 p.Val178Met VAR_086123
4 SFTPA2 p.Trp233Cys VAR_086125
5 SFTPA2 p.Trp233Leu VAR_086126
6 SFTPA2 p.Trp233Arg VAR_086127
7 SFTPA2 p.Cys238Ser VAR_086128

Sources

Expression for Interstitial Lung Disease 2

About this section
Search GEO for disease gene expression data for Interstitial Lung Disease 2.
Sources

Pathways for Interstitial Lung Disease 2

About this section


Pathways directly related to Interstitial Lung Disease 2:

# Pathway Source
1 Defective SFTPA2 causes IPF Reactome 66

Pathways related to Interstitial Lung Disease 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Diseases of glycosylation 66
Show member pathways
 12.38 SFTPD SFTPC SFTPA2 SFTPA1 MUC5B ABCA3
2
Complement cascade 66
Show member pathways
 12.23 TGFB1 SFTPA2 SFTPA1 ATP11A
3
Lung fibrosis 74
11.3 TGFB1 TERT STN1 SFTPC SFTPA2 SFTPA1
4
Surfactant metabolism 66
Show member pathways
 10.93 SFTPD SFTPC SFTPA2 SFTPA1 ABCA3
5
Defective CSF2RA causes SMDP4 66
Show member pathways
 10.69 SFTPD SFTPC SFTPA2 SFTPA1
6
Mammary gland development pathway - Embryonic development (Stage 1 of 4) 74
10.58 TGFB1 TERT
Sources

GO Terms for Interstitial Lung Disease 2

About this section

Cellular components related to Interstitial Lung Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 9.97 TERT TERC STN1 RTEL1
2 rough endoplasmic reticulum GO:0005791 9.88 SFTPD SFTPA2 SFTPA1
3 multivesicular body GO:0005771 9.73 SFTPA1 SFTPA2 SFTPD
4 alveolar lamellar body GO:0097208 9.62 SFTPC ABCA3
5 clathrin-coated endocytic vesicle GO:0045334 9.56 SFTPD SFTPC SFTPA2 SFTPA1
6 telomerase catalytic core complex GO:0000333 9.46 TERT TERC
7 lamellar body GO:0042599 9.23 SFTPC SFTPA2 SFTPA1 ABCA3

Biological processes related to Interstitial Lung Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 9.8 TERT TERC CCN2
2 surfactant homeostasis GO:0043129 9.55 TGFB1 SFTPD ABCA3
3 telomere maintenance GO:0000723 9.5 TERT STN1 RTEL1-TNFRSF6B RTEL1
4 connective tissue development GO:0061448 9.26 TGFB1 CCN2
5 respiratory gaseous exchange by respiratory system GO:0007585 9.23 SFTPD SFTPC SFTPA2 SFTPA1

Molecular functions related to Interstitial Lung Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telomerase activity GO:0003720 9.56 TERT TERC
2 RNA-directed DNA polymerase activity GO:0003964 9.26 TERT TERC
3 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.16 RTEL1-TNFRSF6B RTEL1
4 telomerase RNA reverse transcriptase activity GO:0003721 8.92 TERT TERC
Sources

Sources for Interstitial Lung Disease 2

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....