IPF
MCID: IDP003
MIFTS: 66

Idiopathic Pulmonary Fibrosis (IPF) malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Summaries for Idiopathic Pulmonary Fibrosis

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Idiopathic Pulmonary Fibrosis, also known as hamman-rich syndrome, is related to pulmonary fibrosis and pneumonia. An important gene associated with Idiopathic Pulmonary Fibrosis is SFTPA2 (surfactant protein A2), and among its related pathways are Pertussis and Phagosome. The compounds lipofectamine and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and brain.

Disease Ontology:9 A 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:22 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.

Wikipedia:66 Idiopathic pulmonary fibrosis (IPF) is a chronic and ultimately fatal disease characterized by a... more...

Description from OMIM:48 178500,614743

Aliases & Classifications for Idiopathic Pulmonary Fibrosis

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50Orphanet, 63UMLS, 44NIH Rare Diseases, 9Disease Ontology, 22Genetics Home Reference, 11DISEASES, 32LifeMap Discoveryā„¢, 10diseasecard, 48OMIM, 46Novoseek, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


Characteristics (Orphanet epidemiological data):

50
idiopathic pulmonary fibrosis:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Adulthood
hamman-rich syndrome:
Prevalence: 1-9/100000; Age of onset: Adulthood


Aliases & Descriptions:

idiopathic pulmonary fibrosis 9 44 22 11 50 32
hamman-rich syndrome 44 50 63
familial idiopathic pulmonary fibrosis 44 63
cryptogenic fibrosing alveolitis 9 22
fibrocystic pulmonary dysplasia 9 44
pulmonary fibrosis, idiopathic 10 48
usual interstitial pneumonia 22 50
acute interstitial pneumonia 50 63
idiopathic fibrosing alveolitis, chronic form 22
idiopathic pulmonary fibrosis, familial 9
fibrosing alveolitis, cryptogenic 44
usual interstitial pneumonitis 63
acute interstitial pneumonitis 50
fibrosis idiopathic pulmonary 46
fibrosing alveolitis 44
hamman-rich disease 44
ipf 22
uip 50


External Ids:

Disease Ontology9 DOID:0050156
OMIM48 178500
MeSH36 D054990
MESH via Orphanet37 D054990
ICD10 via Orphanet27 J84.1
SNOMED-CT via Orphanet60 196125002, 236302005
UMLS via Orphanet64 C0085786, C1279945

Related Diseases for Idiopathic Pulmonary Fibrosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Idiopathic Pulmonary Fibrosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary fibrosis32.4TERC, MMP7, SFTPC, SFTPD, TERT
2pneumonia31.5CXCL5, SFTPD, SFTPC
3lung cancer31.2MMP7, TERT, TERC, SFTPC
4pulmonary sarcoidosis31.0SFTPD, CXCL5
5interstitial lung disease30.9SFTPD, SFTPC
6dyskeratosis congenita30.6TERC, TERT
7extrinsic allergic alveolitis30.6CXCL5, SFTPD
8pulmonary alveolar proteinosis30.5SFTPC, SFTPD
9adult respiratory distress syndrome30.4SFTPC, SFTPD
10pulmonary fibrosis, familial30.3TERC, TERT
11asthma30.3CXCL5, MUC5B, SERPINB4, SFTPC, SERPINB3, SFTPD
12sarcoma30.3CD207, TERT, MMP7, DSP
13adenocarcinoma30.2MMP7, SERPINB3, TERT, TERC, SERPINB4, SFTPC
14sarcoidosis10.8
15usual interstitial pneumonia10.7
16nonspecific interstitial pneumonia10.7
17hypertension10.6
18acute interstitial pneumonia10.5
19asbestosis10.5
20endotheliitis10.4
21dermatomyositis10.4
22cystic fibrosis10.4
23lymphangioleiomyomatosis10.4
24pulmonary function10.4
25desquamative interstitial pneumonia10.3
26antiphospholipid syndrome10.3
27langerhans-cell histiocytosis10.3
28obstructive sleep apnea10.3
29bronchitis10.3
30cryptogenic organizing pneumonia10.3
31connective tissue disease10.3
32hepatitis10.3
33histiocytosis10.3
34pneumoconiosis10.3
35pneumothorax10.3
36sleep apnea10.3
37myelitis10.2
38ulcerative colitis10.2
39legionnaires' disease10.2
40farmer's lung10.2
41myositis10.2
42scleroderma10.2
43tuberculosis10.2
44transverse myelitis10.2
45eosinophilic pneumonia10.2
46influenza10.2
47spontaneous pneumothorax10.2
48cytomegalovirus infection10.2
49aleutian mink disease10.1
50primary biliary cirrhosis10.1

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



Diseases related to idiopathic pulmonary fibrosis

Symptoms for Idiopathic Pulmonary Fibrosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

178500

Clinical features from OMIM:

178500,614743

Drugs & Therapeutics for Idiopathic Pulmonary Fibrosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Idiopathic Pulmonary Fibrosis

Drug clinical trials:

Search ClinicalTrials for Idiopathic Pulmonary Fibrosis

Search NIH Clinical Center for Idiopathic Pulmonary Fibrosis

Search CenterWatch for Idiopathic Pulmonary Fibrosis

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Idiopathic Pulmonary Fibrosis cell therapies at LifeMap Discovery.

Genetic Tests for Idiopathic Pulmonary Fibrosis

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Anatomical Context for Idiopathic Pulmonary Fibrosis

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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Idiopathic Pulmonary Fibrosis:

34
Lung, Skin, Brain, Testes, Bone, T cells, Monocytes, Endothelial, Smooth muscle, B cells, Bone marrow, Nk cells, Liver, Thymus

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Idiopathic Pulmonary Fibrosis:
id TissueAnatomical CompartmentCell Relevance
1 PlacentaChorionic VillusChorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Idiopathic Pulmonary Fibrosis or affiliated genes

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Publications for Idiopathic Pulmonary Fibrosis

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53PubMed
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Articles related to Idiopathic Pulmonary Fibrosis:

(show top 50)    (show all 777)
idTitleAuthorsYear
1
Presence of a prothrombotic state in people with idiopathic pulmonary fibrosis: a population-based case-control study. (24002055)
2013
2
Echocardiographic and hemodynamic predictors of mortality in idiopathic pulmonary fibrosis. (23450321)
2013
3
Procollagen type III amino terminal propeptide concentrations in dogs with idiopathic pulmonary fibrosis compared with chronic bronchitis and eosinophilic bronchopneumopathy. (22909956)
2013
4
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
5
Idiopathic pulmonary fibrosis in 2011: key updates on guidelines and therapeutics. Concluding remarks. (23735046)
2013
6
Pulmonary hypertension as a prognostic factor in idiopathic pulmonary fibrosis. (23485885)
2013
7
Staging of Acute Exacerbation in Patients with Idiopathic Pulmonary Fibrosis. (24221341)
2013
8
Idiopathic pulmonary fibrosis: clinically meaningful primary endpoints in phase 3 clinical trials. (23725617)
2013
9
Premature lung aging and cellular senescence in the pathogenesis of idiopathic pulmonary fibrosis and COPD/emphysema. (23831269)
2013
10
Clinical trials in idiopathic pulmonary fibrosis: a framework for moving forward. (24293416)
2013
11
Iron laden macrophages in idiopathic pulmonary fibrosis: The telltale of occult alveolar hemorrhage? (24365112)
2013
12
Comparison of characteristics of connective tissue disease-associated interstitial lung diseases, undifferentiated connective tissue disease-associated interstitial lung diseases, and idiopathic pulmonary fibrosis in Chinese Han population: a retrospective study. (24171031)
2013
13
Expressions of caveolin-1 and extracellular matrix in lung tissues of patients with idiopathic pulmonary fibrosis]. (22883991)
2012
14
Secondary prevention of idiopathic pulmonary fibrosis: catching the horse still in the barn. (22467803)
2012
15
Cleaved cytokeratin-18 is a mechanistically informative biomarker in idiopathic pulmonary fibrosis. (23167970)
2012
16
A microRNA processing defect in rapidly progressing idiopathic pulmonary fibrosis; enteral omega-3 fatty acid, I^-linoleic acid, and antioxidant supplementation in ALI; and management of asthma in pregnancy guided by exhaled nitric oxide. (22942345)
2012
17
Acute exacerbation of idiopathic pulmonary fibrosis. (22365246)
2012
18
Palliative and end-of-life care for patients with idiopathic pulmonary fibrosis: challenges and dilemmas. (22885965)
2012
19
Relative versus absolute change in forced vital capacity in idiopathic pulmonary fibrosis. (22426899)
2012
20
The natural history and diagnosis of idiopathic pulmonary fibrosis: are we all on the same page? (21729885)
2011
21
Safety of postoperative administration of human urinary trypsin inhibitor in lung cancer patients with idiopathic pulmonary fibrosis. (22216165)
2011
22
The rising incidence of idiopathic pulmonary fibrosis in the U.K. (21525528)
2011
23
Metalloproteinases in idiopathic pulmonary fibrosis. (21700608)
2011
24
Intedanib, a triple kinase inhibitor of VEGFR, FGFR and PDGFR for the treatment of cancer and idiopathic pulmonary fibrosis. (20432191)
2010
25
TLR9 differentiates rapidly from slowly progressing forms of idiopathic pulmonary fibrosis. (21068441)
2010
26
Compartmentalized expression of c-FLIP in lung tissues of patients with idiopathic pulmonary fibrosis. (19372246)
2010
27
Significance of serum vascular endothelial growth factor level in patients with idiopathic pulmonary fibrosis. (20066538)
2010
28
Surfactant protein-D predicts survival in patients with idiopathic pulmonary fibrosis. (20560296)
2009
29
Serum surfactant protein-A is a strong predictor of early mortality in idiopathic pulmonary fibrosis. (19255294)
2009
30
Bosentan for idiopathic pulmonary fibrosis. (18951296)
2008
31
Overexpression of squamous cell carcinoma antigen in idiopathic pulmonary fibrosis: clinicopathological correlations. (18344408)
2008
32
RhoA signaling modulates cyclin D1 expression in human lung fibroblasts; implications for idiopathic pulmonary fibrosis. (16776827)
2006
33
Membrane type-matrix metalloproteinases in idiopathic pulmonary fibrosis. (16933466)
2006
34
CD8+ T lymphocytes in lung tissue from patients with idiopathic pulmonary fibrosis. (16042790)
2005
35
CCR5 expression and CC chemokine levels in idiopathic pulmonary fibrosis. (15802346)
2005
36
NOD2/CARD15 gene polymorphisms in idiopathic pulmonary fibrosis. (16315780)
2005
37
Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis. (12746254)
2003
38
A study of the cough reflex in idiopathic pulmonary fibrosis. (12917229)
2003
39
Sputum matrix metalloproteinase-9, tissue inhibitor of metalloprotinease-1, and their molar ratio in patients with chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and healthy subjects. (12814147)
2003
40
Interleukin-1 gene cluster polymorphisms in sarcoidosis and idiopathic pulmonary fibrosis. (11790645)
2002
41
Clinical characterization of interleukin-8 in patients with idiopathic pulmonary fibrosis]. (12645107)
2002
42
Direct measurement of IGF-I and IGFBP-3 in bronchoalveolar lavage fluid from idiopathic pulmonary fibrosis. (11817709)
2001
43
Myofibroblasts and S-100 protein positive cells in idiopathic pulmonary fibrosis and rheumatoid arthritis-associated interstitial pneumonia. (10543278)
1999
44
Interleukin-8 expression in bronchoalveolar lavage cells in the evaluation of alveolitis in idiopathic pulmonary fibrosis. (9616535)
1998
45
The CXC chemokines, IL-8 and IP-10, regulate angiogenic activity in idiopathic pulmonary fibrosis. (9233641)
1997
46
Priming of alveolar macrophages for interleukin-8 production in patients with idiopathic pulmonary fibrosis. (7582298)
1995
47
Increased procoagulant and antifibrinolytic activities in the lungs with idiopathic pulmonary fibrosis. (7624837)
1995
48
Relative release of interleukin-1 beta and interleukin-1 receptor antagonist by alveolar macrophages. A study in asbestos-induced lung disease, sarcoidosis, and idiopathic pulmonary fibrosis. (8325116)
1993
49
Expression and localization of tumor necrosis factor-alpha and its mRNA in idiopathic pulmonary fibrosis. (8362967)
1993
50
Platelet-derived growth factor in idiopathic pulmonary fibrosis. (2170444)
1990

Variations for Idiopathic Pulmonary Fibrosis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Idiopathic Pulmonary Fibrosis:

65
id Symbol AA change Variation ID SNP ID
1SFTPA2p.Phe198SerVAR_063519
2SFTPA2p.Gly231ValVAR_063520

Clinvar genetic disease variations for Idiopathic Pulmonary Fibrosis:

1 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2594G> A (p.Arg865His)single nucleotide variantPathogenicrs121918666GRCh37Chr 5, 1266639: 1266639
2TERTNM_198253.2(TERT): c.2240delT (p.Val747Alafs)deletionPathogenicrs199422300GRCh37Chr 5, 1278802: 1278802
3TERTNM_198253.2(TERT): c.219+1G> Asingle nucleotide variantPathogenicrs199422309GRCh37Chr 5, 1294885: 1294885
4SFTPA2NM_001098668.2(SFTPA2): c.692G> T (p.Gly231Val)single nucleotide variantPathogenicrs121917737GRCh37Chr 10, 81317020: 81317020
5SFTPA2NM_001098668.2(SFTPA2): c.593T> C (p.Phe198Ser)single nucleotide variantPathogenicrs121917738GRCh37Chr 10, 81317119: 81317119
6TERTNM_198253.2(TERT): c.1892G> A (p.Arg631Gln)single nucleotide variantPathogenicrs199422294GRCh37Chr 5, 1280331: 1280331
7TERTNM_198253.2(TERT): c.2583-2A> Csingle nucleotide variantPathogenicrs111576740GRCh37Chr 5, 1266652: 1266652
8TERTNM_198253.2(TERT): c.164T> A (p.Leu55Gln)single nucleotide variantPathogenicrs387907247GRCh37Chr 5, 1294941: 1294941
9TERCTERC, 143G-Asingle nucleotide variantPathogenic
10TERCTERC, 212C-Gsingle nucleotide variantPathogenic
11TERTNM_198253.2(TERT): c.112delC (p.Leu38Trpfs)deletionPathogenicrs199422290GRCh37Chr 5, 1294993: 1294993
12TERTNM_198253.2(TERT): c.1456C> T (p.Arg486Cys)single nucleotide variantPathogenicrs199422293GRCh37Chr 5, 1293545: 1293545
13TERTNM_198253.2(TERT): c.3329C> T (p.Thr1110Met)single nucleotide variantPathogenicrs199422306GRCh37Chr 5, 1253913: 1253913
14TERTNM_198253.2: c.*5_*181del177deletionPathogenicrs199422308GRCh37Chr 5, 1253662: 1253838
15TERTNM_198253.2(TERT): c.430G> A (p.Val144Met)single nucleotide variantPathogenicrs199422291GRCh37Chr 5, 1294571: 1294571
16TERTNM_198253.2(TERT): c.97C> T (p.Pro33Ser)single nucleotide variantPathogenicrs199422289GRCh37Chr 5, 1295008: 1295008
17TERCNR_001566.1(TERC): n.204C> Gsingle nucleotide variantPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
18TERCNR_001566.1(TERC): n.58G> Asingle nucleotide variantPathogenicrs113487931GRCh37Chr 3, 169482791: 169482791
19TERCNR_001566.1(TERC): n.72C> Gsingle nucleotide variantPathogenicrs199422265GRCh37Chr 3, 169482777: 169482777
20TERCNR_001566.1(TERC): n.110_113delGACTdeletionPathogenicrs199422270GRCh37Chr 3, 169482736: 169482739
21TERCNR_001566.1(TERC): n.116C> Tsingle nucleotide variantPathogenicrs199422272GRCh37Chr 3, 169482733: 169482733
22TERCNR_001566.1(TERC): n.98G> Asingle nucleotide variantPathogenicrs199422268GRCh37Chr 3, 169482751: 169482751
23TERCTERC, 325G-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Idiopathic Pulmonary Fibrosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Idiopathic Pulmonary Fibrosis

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

Pathways for genes affiliated with Idiopathic Pulmonary Fibrosis

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51PathCards, 31KEGG, 39NCBI BioSystems Database
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Pathways related to Idiopathic Pulmonary Fibrosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CXCL5, SFTPA2, SFTPA1
210.2SFTPA2, SFTPA1, SFTPD
3
Show member pathways
FOXA transcription factor networks39
10.2SFTPA2, SFTPA1, SFTPD

Compounds for genes affiliated with Idiopathic Pulmonary Fibrosis

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
See all sources

Compounds related to Idiopathic Pulmonary Fibrosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipofectamine4610.5TERT, TERC
2tin(2+)4610.3TERC, TERT
3scca14610.3SERPINB3, SERPINB4
4oligonucleotide4610.1CXCL5, MMP7, SFTPD, TERC, TERT
5progesterone46 30 62 25 1214.1CXCL5, MMP7, DSP, TERC
6cysteine4610.1TERT, SFTPD, SFTPC, SERPINB3, SERPINB4, MMP7
7serine4610.0TERT, SFTPD, SERPINB3, SERPINB4, DSP, MMP7
8retinoic acid46 2510.9TERT, TERC, SFTPC, DSP, MMP7
9dmso469.9MMP7, DSP, TERC
10calcium46 52 25 1212.9CD207, TERT, SFTPD, SFTPA1, SFTPC, SFTPA2

GO Terms for genes affiliated with Idiopathic Pulmonary Fibrosis

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17Gene Ontology
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Cellular components related to Idiopathic Pulmonary Fibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagenGO:00558110.2SFTPA2, SFTPA1, SFTPD
2extracellular regionGO:0055769.5DKK4, SFTPD, SFTPA1, SFTPA2, SERPINB3, SERPINB4
3extracellular spaceGO:0056159.4SFTPD, SFTPA1, SFTPC, SFTPA2, SERPINB3, SERPINB4

Biological processes related to Idiopathic Pulmonary Fibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of proteolysisGO:03016210.3SERPINB4, SERPINB3
2respiratory gaseous exchangeGO:00758510.1SFTPA2, SFTPC, SFTPA1, SFTPD
3negative regulation of peptidase activityGO:01046610.0SERPINB4, SERPINB3

Molecular functions related to Idiopathic Pulmonary Fibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate bindingGO:03024610.1CD207, SFTPA2, SFTPA1, SFTPD

Products for genes affiliated with Idiopathic Pulmonary Fibrosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Idiopathic Pulmonary Fibrosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet