IPF
MCID: PLM134
MIFTS: 61

Pulmonary Fibrosis, Idiopathic (IPF) malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis, Idiopathic

Aliases & Descriptions for Pulmonary Fibrosis, Idiopathic:

Name: Pulmonary Fibrosis, Idiopathic 54 24 66 13 38
Idiopathic Pulmonary Fibrosis 38 12 50 25 56 42 14 69
Cryptogenic Fibrosing Alveolitis 12 25 56
Fibrocystic Pulmonary Dysplasia 12 50 66
Ipf 24 25 66
Idiopathic Fibrosing Alveolitis, Chronic Form 25 29
Idiopathic Pulmonary Fibrosis, Familial 12 24
Acute Interstitial Pneumonia 56 69
Usual Interstitial Pneumonia 25 56
Hamman-Rich Syndrome 56 69
Uip 56 66
Familial Idiopathic Pulmonary Fibrosis 50
Idiopathic Pulmonary Fibrosis Familial 66
Chronic Idiopathic Pulmonary Fibrosis 69
Fibrosing Alveolitis, Cryptogenic 50
Fibrosing Alveolitis Cryptogenic 66
Acute Interstitial Pneumonitis 56
Interstitial Pneumonitis Usual 66
Fibrosis Idiopathic Pulmonary 52
Fibrosing Alveolitis 50
Hamman-Rich Disease 66
Cfa 56

Characteristics:

Orphanet epidemiological data:

56
idiopathic pulmonary fibrosis
Inheritance: Multigenic/multifactorial; Age of onset: Adult;
acute interstitial pneumonia
Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

HPO:

32
pulmonary fibrosis, idiopathic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 178500
Disease Ontology 12 DOID:0050156
ICD10 33 J84.112
ICD9CM 35 516.31
MeSH 42 D054990
ICD10 via Orphanet 34 J84.1
MESH via Orphanet 43 D054990
UMLS via Orphanet 70 C0085786 C1279945
UMLS 69 C1800706

Summaries for Pulmonary Fibrosis, Idiopathic

OMIM : 54 Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of... (178500) more...

MalaCards based summary : Pulmonary Fibrosis, Idiopathic, also known as idiopathic pulmonary fibrosis, is related to idiopathic interstitial pneumonia and acute interstitial pneumonia, and has symptoms including pulmonary fibrosis, cirrhosis and pneumonia. An important gene associated with Pulmonary Fibrosis, Idiopathic is SFTPA2 (Surfactant Protein A2), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and IL-17 Family Signaling Pathways. The drugs Esbriet and Ofev have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Adipose, and related phenotype is respiratory system.

Disease Ontology : 12 An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.

Genetics Home Reference : 25 Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70.

NIH Rare Diseases : 50 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. last updated: 7/30/2014

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Idiopathic pulmonary fibrosis (IPF) is a chronic irreversible and ultimately fatal disease characterized... 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 66)
id Related Disease Score Top Affiliating Genes
1 idiopathic interstitial pneumonia 32.3 SFTPA1 SFTPA2
2 acute interstitial pneumonia 12.3
3 pulmonary fibrosis, idiopathic susceptibility 12.0
4 pulmonary fibrosis, familial 11.2
5 aplastic anemia 11.0
6 interstitial pneumonitis, desquamative, familial 10.9
7 cranial nerve malignant neoplasm 10.5 SFTPA1 SFTPA2 SFTPD
8 common wart 10.5 SFTPA1 SFTPC SFTPD
9 early-onset anterior polar cataract 10.5 RTEL1 TERC TERT
10 early-onset generalized dystonia 10.5 PARN RTEL1 TERT
11 ectodermal dysplasia with natal teeth, turnpenny type 10.5 SFTPA1 SFTPC
12 renal tubular dysgenesis, agt-related 10.5 SFTPA1 SFTPA2 SFTPC SFTPD
13 neurotrophic keratoconjunctivitis 10.5 CCL2 SFTPC SFTPD
14 skin atrophy 10.5 PARN RTEL1 TERC TERT
15 ovarian cystic teratoma 10.5 CXCL8 MUC5B RTEL1
16 scn9a-related inherited erythromelalgia 10.5 MUC5B SFTPA1 SFTPA2 SFTPC TERC TERT
17 hypocalciuric hypercalcemia, type i 10.4 TERC TERT
18 hypertrichosis of eyelid 10.4 CCL2 CTGF TGFB1
19 malignant oculomotor nerve tumor 10.4 CCL2 CXCL5 SFTPC TGFB1
20 adnp syndrome 10.4 CXCL8 SFTPC SFTPD
21 strawberry gallbladder 10.4 CCL2 CXCL8 TGFB1
22 baritosis 10.4 CCL2 CXCL8 MUC5B TGFB1
23 pulmonary valve insufficiency 10.4 CCL2 CTGF TGFB1
24 skin conditions 10.4 CCL2 CXCL8 SFTPD TGFB1
25 albinism, oculocutaneous, type ia 10.4 CCL2 CTGF TGFB1
26 rectum squamous cell carcinoma 10.4 CCL2 CXCL8 MUC5B SFTPC SFTPD
27 breast apocrine carcinoma in situ 10.4 CCL2 CXCL8 SFTPD
28 burns 10.4 CXCL8 MMP7 TGFB1
29 retinal ischemia 10.4 CCL2 CXCL5 SFTPD
30 epidermolysis bullosa simplex, sutosomal recessive 2 10.4 CCL2 CTGF CXCL8
31 herpes simplex 10.4 CTGF SFTPD TGFB1
32 acute necrotizing encephalitis 10.4 CCL2 CTGF TGFB1
33 acute chest syndrome 10.4 CCL2 CXCL8 MUC5B SFTPC SFTPD TGFB1
34 nervous system cancer 10.4 CCL2 CXCL8 MUC5B SFTPC SFTPD TGFB1
35 subcorneal pustular dermatosis 10.4 CCL2 CXCL8 MUC5B SFTPC SFTPD TGFB1
36 patent foramen ovale 10.4 CTGF MMP7 TGFB1
37 spontaneous ocular nystagmus 10.4 CXCL8 MUC5B TGFB1
38 hyperparathyroidism, neonatal 10.4 RTEL1 TERC TERT TGFB1
39 cutaneous candidiasis 10.4 CCL2 CXCL8
40 sclerosing adenosis of breast 10.4 CCL2 CXCL8 TGFB1
41 hemorrhagic cystitis 10.4 CCL2 CTGF TGFB1
42 malignant neoplasm of acoustic nerve 10.4 CCL2 CTGF CXCL8 MUC5B SFTPA1 SFTPA2
43 pigmentation disease 10.4 CCL2 CXCL8 TGFB1
44 pulmonary fibrosis 10.4
45 renal tubular acidosis 10.4 CCL2 CTGF PARN RTEL1 SFTPA1 SFTPA2
46 bone angioendothelial sarcoma 10.3 CCL2 CXCL8 TGFB1
47 testicular lymphoma 10.3 CTGF SFTPD TGFB1
48 calcinosis 10.3 CCL2 CTGF TGFB1
49 detrusor sphincter dyssynergia 10.3 CCL2 CXCL8 TGFB1
50 miliaria 10.3 CTGF TGFB1

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



Diseases related to Pulmonary Fibrosis, Idiopathic

Symptoms & Phenotypes for Pulmonary Fibrosis, Idiopathic

Symptoms by clinical synopsis from OMIM:

178500

Clinical features from OMIM:

178500

Human phenotypes related to Pulmonary Fibrosis, Idiopathic:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 pulmonary fibrosis 32 HP:0002206
2 cirrhosis 32 HP:0001394
3 pneumonia 32 HP:0002090
4 increased antibody level in blood 32 HP:0010702
5 exertional dyspnea 32 HP:0002875
6 clubbing of fingers 32 HP:0100759
7 pulmonary arterial hypertension 32 HP:0002092
8 alveolar cell carcinoma 32 HP:0006519

UMLS symptoms related to Pulmonary Fibrosis, Idiopathic:


dyspnea on exertion, dry cough

MGI Mouse Phenotypes related to Pulmonary Fibrosis, Idiopathic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.17 TGFB1 CTGF MUC5B SFTPA1 SFTPC SFTPD

Drugs & Therapeutics for Pulmonary Fibrosis, Idiopathic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Esbriet 17 PIRFENIDONE InterMune Approved October 2014
2
Ofev 17 NINTEDANIB ESYLATE Boehringer Ingelheim Approved October 2014

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

(show top 50) (show all 201)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2 147536-97-8 104865
2
Nintedanib Approved Phase 4,Phase 3,Phase 2 656247-17-5 56843413
3
Pirfenidone Investigational Phase 4,Phase 3,Phase 2,Phase 1 53179-13-8 40632
4 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3
5 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3
6 Sildenafil Citrate Phase 4,Phase 2,Phase 3 171599-83-0
7 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
8 Antihypertensive Agents Phase 4,Phase 3,Phase 2
9 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2
10 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
11 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
12 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
14 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Citrate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
17
Citric Acid Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 77-92-9 311
18
Sulfamethoxazole Approved Phase 3 723-46-6 5329
19
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
20
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
21
Treprostinil Approved, Investigational Phase 3,Phase 2 81846-19-7 54786 6918140
22
Iloprost Approved, Investigational Phase 2, Phase 3 78919-13-8 6443959
23
Acetylcysteine Approved, Investigational Phase 3,Phase 2,Phase 1 616-91-1 12035
24
Azathioprine Approved Phase 3,Phase 1,Phase 2 446-86-6 2265
25
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
26
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
27
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 83-43-2 6741
28
Prednisolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 50-24-8 5755
29
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
30
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
31
Mycophenolic acid Approved Phase 3 24280-93-1 446541
32
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
33
Lenograstim Approved Phase 3 135968-09-1
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
35
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
36
Warfarin Approved Phase 3 81-81-2 6691 54678486
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
38
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 54575, 6560146 143
39 Anti-Bacterial Agents Phase 3,Phase 2
40 Anti-Infective Agents Phase 3,Phase 2,Phase 1
41 Antimalarials Phase 3,Phase 2
42 Antiparasitic Agents Phase 3,Phase 2
43 Antiprotozoal Agents Phase 3,Phase 2
44 Cytochrome P-450 Enzyme Inhibitors Phase 3
45 Folic Acid Antagonists Phase 3,Phase 2
46 Renal Agents Phase 3
47 Trimethoprim, Sulfamethoxazole Drug Combination Phase 3
48 Vitamin B Complex Phase 3,Phase 2
49 Platelet Aggregation Inhibitors Phase 2, Phase 3
50 Immunosuppressive Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 271)
id Name Status NCT ID Phase
1 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4
2 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4
3 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4
4 Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study Unknown status NCT00637065 Phase 4
5 Safety and Tolerability Study of Pirfenidone in Combination With Nintedanib in Participants With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT02598193 Phase 4
6 Safety, Tolerability and PK of Nintedanib in Combination With Pirfenidone in IPF Completed NCT02579603 Phase 4
7 A Study to Compare the Amount of Nintedanib and Pirfenidone in the Blood When Nintedanib and Pirfenidone Are Given Separately or in Combination Completed NCT02606877 Phase 4
8 Effect of Nintedanib on Biomarkers of Extracellular Matrix Turnover in Patients With Idiopathic Pulmonary Fibrosis and Limited Forced Vital Capacity Impairment Recruiting NCT02788474 Phase 4
9 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Not yet recruiting NCT02821689 Phase 4
10 68Ga-DOTA-NOC PET/CT in Patients With Idiopathic Pulmonary Fibrosis Terminated NCT01321996 Phase 4
11 Study to Test the Validity of the Treatment of Idiopathic Pulmonary Fibrosis With Cotrimoxazole Unknown status NCT01777737 Phase 3
12 Minocycline Therapy for Lung Scarring in Patients With Idiopathic Pulmonary Fibrosis - a Pilot Study Unknown status NCT00203697 Phase 3
13 Treprostinil Therapy For Patients With Interstitial Lung Disease And Severe Pulmonary Arterial Hypertension Unknown status NCT00705133 Phase 3
14 Trial of Iloprost in Pulmonary Hypertension Secondary to Pulmonary Fibrosis Unknown status NCT00439543 Phase 2, Phase 3
15 Treatment of Chronic Cough in Idiopathic Pulmonary Fibrosis With Thalidomide Completed NCT00600028 Phase 3
16 Open Label Extension Study in Patients With Idiopathic Pulmonary Fibrosis Who Completed Protocol AC-052-321/ BUILD 3 / NCT00391443 Completed NCT00631475 Phase 3
17 Efficacy and Safety of Oral Bosentan in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00071461 Phase 2, Phase 3
18 Three-Arm Study of the Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287716 Phase 3
19 Efficacy and Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT01366209 Phase 3
20 Safety and Efficacy of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis Completed NCT00287729 Phase 3
21 Targeting Vascular Reactivity in Idiopathic Pulmonary Fibrosis Completed NCT00981747 Phase 2, Phase 3
22 Gleevec Idiopathic Pulmonary Fibrosis (IPF) Study Completed NCT00131274 Phase 2, Phase 3
23 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3
24 Open-Label Study of the Long Term Safety of Pirfenidone in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00662038 Phase 3
25 A Study of the Safety and Efficacy Interferon-Gamma 1b in Patients With Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00047645 Phase 3
26 Study of the Effects of High-dose N-acetylcysteine (NAC) in Idiopathic Pulmonary Fibrosis (IPF) Completed NCT00639496 Phase 3
27 Safety and Efficacy of BIBF 1120 at High Dose in Idiopathic Pulmonary Fibrosis Patients Completed NCT01335464 Phase 3
28 Safety and Efficacy of BIBF 1120 at High Dose in Idiopathic Pulmonary Fibrosis Patients II Completed NCT01335477 Phase 3
29 BUILD 3: Bosentan Use in Interstitial Lung Disease Completed NCT00391443 Phase 3
30 Evaluating the Effectiveness of Prednisone, Azathioprine, and N-acetylcysteine in Patients With IPF Completed NCT00650091 Phase 3
31 A Study of Mycophenolate Mofetil (CellCept) in Lung Transplant Recipients Completed NCT01014442 Phase 3
32 EZ-2053 in the Prophylaxis of Acute Pulmonary Allograft Rejection Completed NCT00105183 Phase 3
33 Rituximab in Rheumatoid Arthritis Lung Disease Completed NCT00578565 Phase 3
34 High Dose Cyclophosphamide for Treatment of Scleroderma Completed NCT00501995 Phase 3
35 Efficacy and Safety of Oral Bosentan in Pulmonary Fibrosis Associated With Scleroderma Completed NCT00070590 Phase 2, Phase 3
36 Efficacy and Safety of Influenza Vaccine During Sarcoidosis Completed NCT01687517 Phase 3
37 Clinical Study of ART-123 for the Treatment of Acute Exacerbation of Idiopathic Pulmonary Fibrosis Recruiting NCT02739165 Phase 3
38 Cyclophosphamide for Acute Exacerbation of Idiopathic Pulmonary Fibrosis Recruiting NCT02460588 Phase 3
39 Nebulized Fentanyl in Patients With Mild to Moderate Idiopathic Pulmonary Fibrosis and Chronic Dyspnea Recruiting NCT03018756 Phase 3
40 Efficacy and Safety of Nintedanib When Co-administered With Sildenafil in Idiopathic Pulmonary Fibrosis Patients With Advanced Lung Function Impairment Recruiting NCT02802345 Phase 3
41 A Trial to Compare Nintedanib With Placebo for Patients With Scleroderma Related Lung Fibrosis Recruiting NCT02597933 Phase 3
42 Rituximab Versus Cyclophosphamide in Connective Tissue Disease-ILD Recruiting NCT01862926 Phase 2, Phase 3
43 Extension Trial of the Long Term Safety of BIBF 1120 in Patients With Idiopathic Pulmonary Fibrosis Active, not recruiting NCT01619085 Phase 3
44 Phase III Study on Rotavirus Vaccine to Evaluate Lot-to-lot Consistency and Interference With Routine UIP Immunization Active, not recruiting NCT02584816 Phase 3
45 CleanUP IPF for the Pulmonary Trials Cooperative Not yet recruiting NCT02759120 Phase 3
46 Pirfenidone as Treatment of Skin Fibrosis in Systemic Sclerosis Not yet recruiting NCT03068234 Phase 2, Phase 3
47 ARTEMIS-PH - Study of Ambrisentan in Subjects With Pulmonary Hypertension Associated With Idiopathic Pulmonary Fibrosis Terminated NCT00879229 Phase 3
48 AntiCoagulant Effectiveness in Idiopathic Pulmonary Fibrosis Terminated NCT00957242 Phase 3
49 Nintedanib Twice Daily vs Placebo in Patients Diagnosed With Idiopathic Pulmonary Fibrosis (IPF) Terminated NCT01979952 Phase 3
50 (ARTEMIS-IPF) Randomized, Placebo-Controlled Study to Evaluate Safety and Effectiveness of Ambrisentan in IPF Terminated NCT00768300 Phase 3

Search NIH Clinical Center for Pulmonary Fibrosis, Idiopathic

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:

id Genetic test Affiliating Genes
1 Idiopathic Fibrosing Alveolitis, Chronic Form 29
2 Pulmonary Fibrosis, Idiopathic 24 SFTPA2

Anatomical Context for Pulmonary Fibrosis, Idiopathic

MalaCards organs/tissues related to Pulmonary Fibrosis, Idiopathic:

39
Lung, Skin, Brain, Endothelial, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pulmonary Fibrosis, Idiopathic:
id 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

Variations for Pulmonary Fibrosis, Idiopathic

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

66
id Symbol AA change Variation ID SNP ID
1 SFTPA2 p.Phe198Ser VAR_063519
2 SFTPA2 p.Gly231Val VAR_063520

ClinVar genetic disease variations for Pulmonary Fibrosis, Idiopathic:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 TERC NR_001566.1(TERC): n.98G> A single nucleotide variant Pathogenic rs199422268 GRCh37 Chromosome 3, 169482751: 169482751
2 TERT NM_198253.2(TERT): c.2594G> A (p.Arg865His) single nucleotide variant Pathogenic rs121918666 GRCh37 Chromosome 5, 1266639: 1266639
3 TERT NM_198253.2(TERT): c.2240delT (p.Val747Alafs) deletion Pathogenic rs199422300 GRCh37 Chromosome 5, 1278802: 1278802
4 TERT NM_198253.2(TERT): c.219+1G> A single nucleotide variant Pathogenic rs199422309 GRCh37 Chromosome 5, 1294885: 1294885
5 SFTPA2 NM_001098668.3(SFTPA2): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic rs121917737 GRCh37 Chromosome 10, 81317020: 81317020
6 SFTPA2 NM_001098668.3(SFTPA2): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs121917738 GRCh37 Chromosome 10, 81317119: 81317119
7 TERT NM_198253.2(TERT): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs199422294 GRCh37 Chromosome 5, 1280331: 1280331
8 MUC5B NM_002458.2(MUC5B): c.-3133G> T single nucleotide variant risk factor rs35705950 GRCh37 Chromosome 11, 1241221: 1241221
9 TERT NM_198253.2(TERT): c.2583-2A> C single nucleotide variant Pathogenic rs111576740 GRCh37 Chromosome 5, 1266652: 1266652
10 TERT NM_198253.2(TERT): c.164T> A (p.Leu55Gln) single nucleotide variant Pathogenic rs387907247 GRCh37 Chromosome 5, 1294941: 1294941
11 TERT NM_198253.2(TERT): c.112delC (p.Leu38Trpfs) deletion Pathogenic rs199422290 GRCh37 Chromosome 5, 1294993: 1294993
12 TERT NM_198253.2(TERT): c.1456C> T (p.Arg486Cys) single nucleotide variant Pathogenic rs199422293 GRCh37 Chromosome 5, 1293545: 1293545
13 TERT NM_198253.2(TERT): c.*5_*181del177 deletion Pathogenic rs199422308 GRCh37 Chromosome 5, 1253662: 1253838
14 TERT NM_198253.2(TERT): c.430G> A (p.Val144Met) single nucleotide variant Pathogenic rs199422291 GRCh37 Chromosome 5, 1294571: 1294571
15 TERT NM_198253.2(TERT): c.97C> T (p.Pro33Ser) single nucleotide variant Pathogenic rs199422289 GRCh37 Chromosome 5, 1295008: 1295008
16 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh37 Chromosome 20, 62326972: 62326972
17 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh37 Chromosome 20, 62324564: 62324564
18 RTEL1 NM_001283009.1(RTEL1): c.2219_2227delATGTCATCC (p.His740_Ile742del) deletion Pathogenic rs863225053 GRCh37 Chromosome 20, 62321517: 62321525
19 RTEL1 NM_016434.3(RTEL1): c.2413+1G> C single nucleotide variant Pathogenic rs776744306 GRCh38 Chromosome 20, 63690442: 63690442
20 RTEL1 NM_016434.3(RTEL1): c.2957G> A (p.Arg986Gln) single nucleotide variant Pathogenic rs146221660 GRCh38 Chromosome 20, 63693248: 63693248
21 RTEL1 NM_032957.4(RTEL1): c.1030+2dupT duplication Pathogenic rs869312855 GRCh37 Chromosome 20, 62309538: 62309538
22 RTEL1 NM_016434.3(RTEL1): c.1482-1G> A single nucleotide variant Pathogenic rs863225129 GRCh37 Chromosome 20, 62319289: 62319289
23 RTEL1 NM_016434.3(RTEL1): c.1546G> C (p.Val516Leu) single nucleotide variant Pathogenic rs748223349 GRCh37 Chromosome 20, 62319354: 62319354
24 RTEL1 NM_016434.3(RTEL1): c.1618T> G (p.Ser540Ala) single nucleotide variant Pathogenic rs863225130 GRCh37 Chromosome 20, 62319514: 62319514
25 ABCA3 NM_001089.2(ABCA3): c.1609_1611+4delinsCCA indel Likely pathogenic rs876657633 GRCh37 Chromosome 16, 2350002: 2350008
26 TERT NM_198253.2(TERT): c.336dupC (p.Glu113Argfs) duplication Pathogenic GRCh38 Chromosome 5, 1294550: 1294550

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:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 CCL2 CXCL8 SFTPA2 SFTPD TGFB1
2
Show member pathways
12.11 CCL2 CXCL5 CXCL8 MUC5B
3 11.78 CCL2 CXCL8 TGFB1
4 11.68 CCL2 CXCL8 TGFB1
5
Show member pathways
11.65 SFTPA1 SFTPA2 SFTPC SFTPD
6 11.61 CCL2 MMP7 TGFB1
7 11.58 CCL2 CXCL5 CXCL8 TGFB1
8 11.44 CXCL5 CXCL8 SFTPA1 SFTPA2
9
Show member pathways
11.39 CCL2 CXCL8 PARN
10 11.33 ATP11A CCL2 CTGF CXCL8 DPP9 DSP
11 11.3 CCL2 CXCL8 TGFB1
12
Show member pathways
11.24 SFTPA1 SFTPA2 SFTPD
13
Show member pathways
11.09 SFTPA1 SFTPA2 SFTPC SFTPD
14 10.75 MMP7 TGFB1
15
Show member pathways
10.65 SFTPA1 SFTPA2 SFTPC SFTPD

GO Terms for Pulmonary Fibrosis, Idiopathic

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.9 CCL2 CTGF CXCL5 CXCL8 MMP7 MUC5B
2 proteinaceous extracellular matrix GO:0005578 9.73 CTGF MMP7 SFTPA1 SFTPA2 SFTPD TGFB1
3 collagen trimer GO:0005581 9.58 SFTPA1 SFTPA2 SFTPD
4 chromosome, telomeric region GO:0000781 9.54 RTEL1 STN1 TERT
5 clathrin-coated endocytic vesicle GO:0045334 9.26 SFTPA1 SFTPA2 SFTPC SFTPD
6 lamellar body GO:0042599 8.92 SFTPA1 SFTPA2 SFTPC SFTPD
7 extracellular region GO:0005576 10.06 CCL2 CTGF CXCL5 CXCL8 MMP7 MUC5B

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.67 SFTPA1 SFTPA2 SFTPC SFTPD
2 aging GO:0007568 9.62 CCL2 CTGF MMP7 TGFB1
3 response to wounding GO:0009611 9.61 CCL2 CTGF TGFB1
4 chemokine-mediated signaling pathway GO:0070098 9.58 CCL2 CXCL5 CXCL8
5 macrophage chemotaxis GO:0048246 9.48 CCL2 SFTPD
6 PERK-mediated unfolded protein response GO:0036499 9.46 CCL2 CXCL8
7 toll-like receptor signaling pathway GO:0002224 9.43 SFTPA1 SFTPA2 SFTPD
8 telomere maintenance GO:0000723 9.33 RTEL1 STN1 TERT
9 positive regulation of collagen biosynthetic process GO:0032967 9.13 CCL2 CTGF TGFB1
10 respiratory gaseous exchange GO:0007585 8.92 SFTPA1 SFTPA2 SFTPC SFTPD

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 CCL2 CXCL5 CXCL8 TGFB1
2 chemokine activity GO:0008009 8.8 CCL2 CXCL5 CXCL8

Sources for Pulmonary Fibrosis, Idiopathic

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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70 UMLS via Orphanet
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