CFA
MCID: IDP003
MIFTS: 67

Idiopathic Pulmonary Fibrosis (CFA) malady

Genetic diseases, Rare diseases, Respiratory diseases categories
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Summaries for Idiopathic Pulmonary Fibrosis

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NIH Rare Diseases:42 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 based summary: Idiopathic Pulmonary Fibrosis, also known as cryptogenic fibrosing alveolitis, is related to pulmonary fibrosis and pneumonia, and has symptoms including 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, brain and skin.

Disease Ontology:8 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:21 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:65 Idiopathic pulmonary fibrosis (IPF) is a chronic and ultimately fatal disease characterized by a... more...

Descriptions from OMIM:46 178500,614743

Aliases & Classifications for Idiopathic Pulmonary Fibrosis

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 62UMLS, 9diseasecard, 46OMIM, 44Novoseek, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Idiopathic Pulmonary Fibrosis, Aliases & Descriptions:

Name: Idiopathic Pulmonary Fibrosis 30 8 42 21 10 48
Cryptogenic Fibrosing Alveolitis 8 21 48 62
Usual Interstitial Pneumonia 21 48 62
Hamman-Rich Syndrome 42 48 62
Familial Idiopathic Pulmonary Fibrosis 42 62
Fibrocystic Pulmonary Dysplasia 8 42
Pulmonary Fibrosis, Idiopathic 9 46
Acute Interstitial Pneumonitis 48 62
Fibrosis Idiopathic Pulmonary 44 62
Acute Interstitial Pneumonia 48 62
 
Hamman-Rich Disease 42 62
Uip 48 62
Idiopathic Fibrosing Alveolitis, Chronic Form 21
Idiopathic Pulmonary Fibrosis, Familial 8
Fibrosing Alveolitis, Cryptogenic 42
Usual Interstitial Pneumonitis 62
Fibrosing Alveolitis 42
Cfa 48
Ipf 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology8 DOID:0050156
MeSH34 D054990
OMIM46 178500
MESH via Orphanet35 D054990
ICD10 via Orphanet26 J84.1
UMLS via Orphanet63 C0085786, C1279945

Related Diseases for Idiopathic Pulmonary Fibrosis

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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 124)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary fibrosis32.6TERT, TERC, SFTPD, SFTPC, MMP7
2pneumonia31.9CXCL5, SFTPC, SFTPD
3pulmonary sarcoidosis31.5CXCL5, SFTPD
4lung cancer31.4TERT, TERC, SFTPC, MMP7
5chronic obstructive pulmonary disease31.4SFTPD, MUC5B, FAM13A
6interstitial lung disease31.3SFTPC, SFTPD
7extrinsic allergic alveolitis31.2CXCL5, SFTPD
8dyskeratosis congenita31.0TERC, TERT
9pulmonary alveolar proteinosis31.0SFTPD, SFTPC
10pulmonary fibrosis, familial30.8TERT, TERC
11adult respiratory distress syndrome30.8SFTPD, SFTPC
12asthma30.6SFTPD, SFTPC, SERPINB3, SERPINB4, MUC5B, CXCL5
13sarcoma30.4CD207, MMP7, DSP, TERT
14adenocarcinoma30.3TERT, TERC, SFTPD, SFTPC, SERPINB3, SERPINB4
15sarcoidosis10.8
16usual interstitial pneumonia10.8
17nonspecific interstitial pneumonia10.7
18hypertension10.7
19pulmonary hypertension10.7
20acute interstitial pneumonia10.6
21aspergillosis10.5SFTPD, SFTPA2
22asbestosis10.5
23endotheliitis10.5
24cork-handlers' disease10.4SFTPC, SFTPA2, CXCL5
25dyskeratosis congenita autosomal dominant10.4TERT, TERC
26antiphospholipid syndrome10.4
27dermatomyositis10.4
28lymphangioleiomyomatosis10.4
29connective tissue disease10.4
30pulmonary function10.4
31adenosquamous carcinoma10.4SFTPC, SFTPD
32gastritis10.4TERC, TERT
33large cell carcinoma10.4SFTPC, SFTPD
34desquamative interstitial pneumonia10.3
35oral cancer10.3SERPINB3, TERC, TERT
36cholangiocarcinoma10.3TERT, MUC5B, MMP7
37cervical cancer10.3SERPINB3, TERC, TERT
38catastrophic antiphospholipid syndrome10.3
39cystic fibrosis10.3
40hepatitis10.3
41langerhans-cell histiocytosis10.3
42bronchitis10.3
43obstructive sleep apnea10.3
44cryptogenic organizing pneumonia10.3
45histiocytosis10.3
46pneumoconiosis10.3
47sleep apnea10.3
48vascular disease10.3
49thromboembolism10.3
50laryngeal benign neoplasm10.2SERPINB3, TERT

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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Symptoms by clinical synopsis from OMIM:

178500

Clinical features from OMIM:

178500,614743

HPO human phenotypes related to Idiopathic Pulmonary Fibrosis:

(show all 9)
id Description Frequency HPO Source Accession
1 clubbing of fingers typical (50%) HP:0100759
2 autosomal dominant inheritance HP:0000006
3 cirrhosis HP:0001394
4 pneumonia HP:0002090
5 pulmonary hypertension HP:0002092
6 pulmonary fibrosis HP:0002206
7 exertional dyspnea HP:0002875
8 alveolar cell carcinoma HP:0006519
9 hypergammaglobulinemia HP:0010702

Drugs & Therapeutics for Idiopathic Pulmonary Fibrosis

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Drug clinical trials:

Search ClinicalTrials for Idiopathic Pulmonary Fibrosis

Search NIH Clinical Center 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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MalaCards organs/tissues related to Idiopathic Pulmonary Fibrosis:

32
Lung, Brain, Skin, Neutrophil, Testes, Bone, Endothelial, Monocytes, T cells, Smooth muscle, B cells, Bone marrow, Thymus, Liver, Nk cells

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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Articles related to Idiopathic Pulmonary Fibrosis:

(show top 50)    (show all 794)
idTitleAuthorsYear
1
Landmark approvals in idiopathic pulmonary fibrosis. (25380420)
2014
2
Presence of a prothrombotic state in people with idiopathic pulmonary fibrosis: a population-based case-control study. (24002055)
2013
3
Echocardiographic and hemodynamic predictors of mortality in idiopathic pulmonary fibrosis. (23450321)
2013
4
Procollagen type III amino terminal propeptide concentrations in dogs with idiopathic pulmonary fibrosis compared with chronic bronchitis and eosinophilic bronchopneumopathy. (22909956)
2013
5
Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (24275244)
2013
6
Idiopathic pulmonary fibrosis in 2011: key updates on guidelines and therapeutics. Concluding remarks. (23735046)
2013
7
Pulmonary hypertension as a prognostic factor in idiopathic pulmonary fibrosis. (23485885)
2013
8
Staging of Acute Exacerbation in Patients with Idiopathic Pulmonary Fibrosis. (24221341)
2013
9
Idiopathic pulmonary fibrosis: clinically meaningful primary endpoints in phase 3 clinical trials. (23725617)
2013
10
Premature lung aging and cellular senescence in the pathogenesis of idiopathic pulmonary fibrosis and COPD/emphysema. (23831269)
2013
11
Clinical trials in idiopathic pulmonary fibrosis: a framework for moving forward. (24293416)
2013
12
Iron laden macrophages in idiopathic pulmonary fibrosis: The telltale of occult alveolar hemorrhage? (24365112)
2013
13
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
14
Expressions of caveolin-1 and extracellular matrix in lung tissues of patients with idiopathic pulmonary fibrosis]. (22883991)
2012
15
Secondary prevention of idiopathic pulmonary fibrosis: catching the horse still in the barn. (22467803)
2012
16
Abnormal lung aging in chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. (22582162)
2012
17
Cleaved cytokeratin-18 is a mechanistically informative biomarker in idiopathic pulmonary fibrosis. (23167970)
2012
18
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
19
Acute exacerbation of idiopathic pulmonary fibrosis. (22365246)
2012
20
Palliative and end-of-life care for patients with idiopathic pulmonary fibrosis: challenges and dilemmas. (22885965)
2012
21
Relative versus absolute change in forced vital capacity in idiopathic pulmonary fibrosis. (22426899)
2012
22
The natural history and diagnosis of idiopathic pulmonary fibrosis: are we all on the same page? (21729885)
2011
23
Safety of postoperative administration of human urinary trypsin inhibitor in lung cancer patients with idiopathic pulmonary fibrosis. (22216165)
2011
24
The rising incidence of idiopathic pulmonary fibrosis in the U.K. (21525528)
2011
25
Metalloproteinases in idiopathic pulmonary fibrosis. (21700608)
2011
26
Intedanib, a triple kinase inhibitor of VEGFR, FGFR and PDGFR for the treatment of cancer and idiopathic pulmonary fibrosis. (20432191)
2010
27
TLR9 differentiates rapidly from slowly progressing forms of idiopathic pulmonary fibrosis. (21068441)
2010
28
Compartmentalized expression of c-FLIP in lung tissues of patients with idiopathic pulmonary fibrosis. (19372246)
2010
29
Significance of serum vascular endothelial growth factor level in patients with idiopathic pulmonary fibrosis. (20066538)
2010
30
Surfactant protein-D predicts survival in patients with idiopathic pulmonary fibrosis. (20560296)
2009
31
Serum surfactant protein-A is a strong predictor of early mortality in idiopathic pulmonary fibrosis. (19255294)
2009
32
Increased bronchoalveolar lavage fluid CD1c expressing dendritic cells in idiopathic pulmonary fibrosis. (19556741)
2009
33
RhoA signaling modulates cyclin D1 expression in human lung fibroblasts; implications for idiopathic pulmonary fibrosis. (16776827)
2006
34
Membrane type-matrix metalloproteinases in idiopathic pulmonary fibrosis. (16933466)
2006
35
Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis. (16573560)
2006
36
CD8+ T lymphocytes in lung tissue from patients with idiopathic pulmonary fibrosis. (16042790)
2005
37
CCR5 expression and CC chemokine levels in idiopathic pulmonary fibrosis. (15802346)
2005
38
NOD2/CARD15 gene polymorphisms in idiopathic pulmonary fibrosis. (16315780)
2005
39
Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis. (12746254)
2003
40
A study of the cough reflex in idiopathic pulmonary fibrosis. (12917229)
2003
41
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
42
Interleukin-1 gene cluster polymorphisms in sarcoidosis and idiopathic pulmonary fibrosis. (11790645)
2002
43
Direct measurement of IGF-I and IGFBP-3 in bronchoalveolar lavage fluid from idiopathic pulmonary fibrosis. (11817709)
2001
44
Myofibroblasts and S-100 protein positive cells in idiopathic pulmonary fibrosis and rheumatoid arthritis-associated interstitial pneumonia. (10543278)
1999
45
Interleukin-8 expression in bronchoalveolar lavage cells in the evaluation of alveolitis in idiopathic pulmonary fibrosis. (9616535)
1998
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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UniProtKB/Swiss-Prot genetic disease variations for Idiopathic Pulmonary Fibrosis:

64
id Symbol AA change Variation ID SNP ID
1SFTPA2p.Phe198SerVAR_063519
2SFTPA2p.Gly231ValVAR_063520

Clinvar genetic disease variations for Idiopathic Pulmonary Fibrosis:

6 (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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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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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 networks37
10.2SFTPA2, SFTPA1, SFTPD

Compounds for genes affiliated with Idiopathic Pulmonary Fibrosis

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

idCompoundScoreTop Affiliating Genes
1lipofectamine4410.5TERT, TERC
2tin(2+)4410.3TERC, TERT
3scca14410.3SERPINB3, SERPINB4
4oligonucleotide4410.1CXCL5, MMP7, SFTPD, TERC, TERT
5progesterone44 28 61 24 1114.1CXCL5, MMP7, DSP, TERC
6cysteine4410.1TERT, SFTPD, SFTPC, SERPINB3, SERPINB4, MMP7
7serine4410.0TERT, SFTPD, SERPINB3, SERPINB4, DSP, MMP7
8retinoic acid44 2410.9TERT, TERC, SFTPC, DSP, MMP7
9dmso449.9MMP7, DSP, TERC
10calcium44 50 24 1112.9CD207, TERT, SFTPD, SFTPA1, SFTPC, SFTPA2

GO Terms for genes affiliated with Idiopathic Pulmonary Fibrosis

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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
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Sources for Idiopathic Pulmonary Fibrosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet