MCID: PLM134
MIFTS: 54

Pulmonary Fibrosis, Idiopathic malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Summaries for Pulmonary Fibrosis, Idiopathic

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OMIM:47 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 pulmonary fibrosis and lung cancer, and has symptoms including clubbing of fingers, autosomal dominant inheritance and cirrhosis. An important gene associated with Pulmonary Fibrosis, Idiopathic is SFTPA2 (surfactant protein A2), and among its related pathways are Pertussis and FOXA1 transcription factor network. The compounds lipofectamine and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and skin.

Disease Ontology:10 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:23 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:43 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

Aliases & Classifications for Pulmonary Fibrosis, Idiopathic

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Sources:
47OMIM, 11diseasecard, 32LifeMap Discovery®, 10Disease Ontology, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 49Orphanet, 24GTR, 45Novoseek, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet
See all sources

Pulmonary Fibrosis, Idiopathic, Aliases & Descriptions:

Name: Pulmonary Fibrosis, Idiopathic 47 11 32
Idiopathic Pulmonary Fibrosis 32 10 43 23 12 49
Cryptogenic Fibrosing Alveolitis 10 43 23 49
Usual Interstitial Pneumonia 43 23 49
Idiopathic Fibrosing Alveolitis, Chronic Form 23 24
Fibrocystic Pulmonary Dysplasia 10 43
Uip 43 49
Cfa 43 49
Idiopathic Pulmonary Fibrosis, Familial 10
 
Familial Idiopathic Pulmonary Fibrosis 43
Fibrosing Alveolitis, Cryptogenic 43
Acute Interstitial Pneumonitis 43
Fibrosis Idiopathic Pulmonary 45
Acute Interstitial Pneumonia 43
Fibrosing Alveolitis 43
Hamman-Rich Syndrome 43
Hamman-Rich Disease 43
Ipf 23


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
idiopathic pulmonary fibrosis:
Inheritance: Autosomal dominant; Age of onset: Adult


External Ids:

OMIM47 178500
Disease Ontology10 DOID:0050156
MeSH35 D054990
NCIt40 C35716
Orphanet49 2032
MESH via Orphanet36 D054990
ICD10 via Orphanet28 J84.1

Related Diseases for Pulmonary Fibrosis, Idiopathic

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary fibrosis31.3SFTPC, TERC, TERT
2lung cancer31.1TERC, TERT, SFTPC
3dyskeratosis congenita30.5TERT, TERC
4pulmonary fibrosis, familial30.2TERT, TERC
5aplastic anemia30.2TERC, TERT
6pneumonia11.0
7pulmonary hypertension10.7
8pulmonary sarcoidosis10.6
9acute interstitial pneumonia10.6
10gastroesophageal reflux10.5
11interstitial lung disease10.5
12asbestosis10.5
13endotheliitis10.5
14connective tissue disease10.4
15antiphospholipid syndrome10.4
16dermatomyositis10.4
17pulmonary function10.4
18cystic fibrosis10.4
19lymphangioleiomyomatosis10.4
20desquamative interstitial pneumonia10.4
21catastrophic antiphospholipid syndrome10.3
22hepatitis10.3
23langerhans-cell histiocytosis10.3
24obstructive sleep apnea10.3
25bronchitis10.3
26cryptogenic organizing pneumonia10.3
27pulmonary alveolar proteinosis10.3
28extrinsic allergic alveolitis10.3
29histiocytosis10.3
30pneumoconiosis10.3
31pneumothorax10.3
32sleep apnea10.3
33vascular disease10.3
34microscopic polyangiitis10.3
35adult respiratory distress syndrome10.2
36ulcerative colitis10.2
37myelitis10.2
38farmer's lung10.2
39colitis10.2
40myositis10.2
41scleroderma10.2
42tuberculosis10.2
43transverse myelitis10.2
44eosinophilic pneumonia10.2
45influenza10.2
46sarcoma10.2
47cytomegalovirus infection10.2
48hepatocellular carcinoma10.2
49renal cell carcinoma10.2
50common variable immunodeficiency10.2

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



Diseases related to pulmonary fibrosis, idiopathic

Symptoms for Pulmonary Fibrosis, Idiopathic

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Symptoms by clinical synopsis from OMIM:

178500

Clinical features from OMIM:

178500

HPO human phenotypes related to Pulmonary Fibrosis, Idiopathic:

(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 Pulmonary Fibrosis, Idiopathic

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Drug clinical trials:

Search ClinicalTrials for Pulmonary Fibrosis, Idiopathic

Search NIH Clinical Center for Pulmonary Fibrosis, Idiopathic

Cell-based therapeutics:


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

Genetic Tests for Pulmonary Fibrosis, Idiopathic

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Genetic tests related to Pulmonary Fibrosis, Idiopathic:

id Genetic test Affiliating Genes
1 Idiopathic Fibrosing Alveolitis, Chronic Form24

Anatomical Context for Pulmonary Fibrosis, Idiopathic

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MalaCards organs/tissues related to Pulmonary Fibrosis, Idiopathic:

33
Lung, Brain, Skin, Bone

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

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

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Publications for Pulmonary Fibrosis, Idiopathic

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Variations for Pulmonary Fibrosis, Idiopathic

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

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

Clinvar genetic disease variations for Pulmonary Fibrosis, Idiopathic:

7 (show all 15)
id Gene Variation 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
9TERTNM_198253.2(TERT): c.112delC (p.Leu38Trpfs)deletionPathogenicrs199422290GRCh37Chr 5, 1294993: 1294993
10TERTNM_198253.2(TERT): c.1456C> T (p.Arg486Cys)single nucleotide variantPathogenicrs199422293GRCh37Chr 5, 1293545: 1293545
11TERTNM_198253.2(TERT): c.3329C> T (p.Thr1110Met)single nucleotide variantPathogenicrs199422306GRCh37Chr 5, 1253913: 1253913
12TERTNM_198253.2: c.*5_*181del177deletionPathogenicrs199422308GRCh37Chr 5, 1253662: 1253838
13TERTNM_198253.2(TERT): c.430G> A (p.Val144Met)single nucleotide variantPathogenicrs199422291GRCh37Chr 5, 1294571: 1294571
14TERTNM_198253.2(TERT): c.97C> T (p.Pro33Ser)single nucleotide variantPathogenicrs199422289GRCh37Chr 5, 1295008: 1295008
15TERCNR_001566.1(TERC): n.98G> Asingle nucleotide variantPathogenicrs199422268GRCh37Chr 3, 169482751: 169482751

Expression for genes affiliated with Pulmonary Fibrosis, Idiopathic

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

Pathways for genes affiliated with Pulmonary Fibrosis, Idiopathic

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Pathways related to Pulmonary Fibrosis, Idiopathic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SFTPA2, SFTPA1
2
Show member pathways
FOXA transcription factor networks38
9.9SFTPA2, SFTPA1

Compounds for genes affiliated with Pulmonary Fibrosis, Idiopathic

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Sources:
45Novoseek, 51PharmGKB, 26HMDB, 13DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1lipofectamine459.8TERC, TERT
2tin(2+)459.7TERC, TERT
3calcium45 51 26 1311.2DSP, SFTPA2, SFTPC, SFTPA1, TERT
4retinoic acid45 269.1TERT, TERC, SFTPC, DSP

GO Terms for genes affiliated with Pulmonary Fibrosis, Idiopathic

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Cellular components related to Pulmonary Fibrosis, Idiopathic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagenGO:00055819.9SFTPA2, SFTPA1

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

idNameGO IDScoreTop Affiliating Genes
1telomere maintenanceGO:00007239.5OBFC1, TERT
2respiratory gaseous exchangeGO:00075858.8SFTPA2, SFTPC, SFTPA1

Products for genes affiliated with Pulmonary Fibrosis, Idiopathic

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Sources for Pulmonary Fibrosis, Idiopathic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet