MCID: PLM199
MIFTS: 18

Pulmonary Fibrosis Predisposition

Categories: Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis Predisposition

MalaCards integrated aliases for Pulmonary Fibrosis Predisposition:

Name: Pulmonary Fibrosis Predisposition 25

Classifications:



Summaries for Pulmonary Fibrosis Predisposition

MalaCards based summary : Pulmonary Fibrosis Predisposition is related to pulmonary fibrosis and pneumonia. An important gene associated with Pulmonary Fibrosis Predisposition is MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming), and among its related pathways/superpathways are Diseases of metabolism and Surfactant metabolism. Affiliated tissues include lung.

GeneReviews: NBK1230

Related Diseases for Pulmonary Fibrosis Predisposition

Diseases related to Pulmonary Fibrosis Predisposition via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis 28.4 TERT TERC SFTPC SFTPA2 MUC5B
2 pneumonia 10.0 SFTPC MUC5B
3 pulmonary immaturity 9.9 SFTPC SFTPA2
4 middle ear disease 9.9 SFTPA2 MUC5B
5 neonatal respiratory failure 9.9 SFTPC SFTPA2
6 chronic congestive splenomegaly 9.9 TERT SFTPC
7 cryptogenic organizing pneumonia 9.9 SFTPC SFTPA2
8 nonspecific interstitial pneumonia 9.9 SFTPC MUC5B
9 newborn respiratory distress syndrome 9.9 SFTPC SFTPA2
10 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 SFTPC SFTPA2
11 otitis media 9.8 SFTPA2 MUC5B
12 inherited bone marrow failure syndromes 9.8 TERT TERC
13 lung benign neoplasm 9.8 TERT SFTPC
14 revesz syndrome 9.8 TERT TERC
15 dyskeratosis congenita, autosomal dominant 1 9.8 TERT TERC
16 hoyeraal hreidarsson syndrome 9.8 TERT TERC
17 dyskeratosis congenita, x-linked 9.8 TERT TERC
18 dyskeratosis congenita autosomal dominant 9.8 TERT TERC
19 cervical intraepithelial neoplasia 9.8 TERT TERC
20 lymphoid interstitial pneumonia 9.7 TERT TERC
21 idiopathic interstitial pneumonia 9.7 SFTPC SFTPA2 MUC5B
22 shwachman-diamond syndrome 1 9.7 TERT TERC
23 melanoma, cutaneous malignant 1 9.6 TERT TERC
24 dyskeratosis congenita 9.5 TERT TERC SFTPA2
25 testicular cancer 9.5 TERT TERC
26 interstitial lung disease 9.4 TERT SFTPC SFTPA2 MUC5B
27 lung disease 9.4 TERT SFTPC SFTPA2 MUC5B
28 postinflammatory pulmonary fibrosis 9.3 TERT TERC SFTPA2 MUC5B
29 interstitial pneumonitis, desquamative, familial 9.3 TERC SFTPC SFTPA2 MUC5B
30 acute interstitial pneumonia 9.2 TERT TERC SFTPC SFTPA2
31 pulmonary fibrosis, idiopathic 9.0 TERT TERC SFTPC SFTPA2 MUC5B

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



Diseases related to Pulmonary Fibrosis Predisposition

Symptoms & Phenotypes for Pulmonary Fibrosis Predisposition

Drugs & Therapeutics for Pulmonary Fibrosis Predisposition

Search Clinical Trials , NIH Clinical Center for Pulmonary Fibrosis Predisposition

Genetic Tests for Pulmonary Fibrosis Predisposition

Anatomical Context for Pulmonary Fibrosis Predisposition

MalaCards organs/tissues related to Pulmonary Fibrosis Predisposition:

40
Lung

Publications for Pulmonary Fibrosis Predisposition

Articles related to Pulmonary Fibrosis Predisposition:

(show all 50)
# Title Authors PMID Year
1
Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation. 25
33214205 2021
2
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease. 25
32011901 2020
3
Pirfenidone in patients with unclassifiable progressive fibrosing interstitial lung disease: a double-blind, randomised, placebo-controlled, phase 2 trial. 25
31578169 2020
4
Nintedanib in Progressive Fibrosing Interstitial Lung Diseases. 25
31566307 2019
5
Pathogenic TERT promoter variants in telomere diseases. 25
30523342 2019
6
Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis. 25
30525901 2019
7
Impaired Cytomegalovirus Immunity in Idiopathic Pulmonary Fibrosis Lung Transplant Recipients with Short Telomeres. 25
30088779 2019
8
Characteristics of lung cancer among patients with idiopathic pulmonary fibrosis and interstitial lung disease - analysis of institutional and population data. 25
30285867 2018
9
Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study. 25
29891356 2018
10
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
11
Management of suspected monogenic lung fibrosis in a specialised centre. 25
28446600 2017
12
Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis. 25
27786550 2017
13
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. 25
28495692 2017
14
Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations. 25
28495689 2017
15
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. 25
28192371 2017
16
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive. 25
27540018 2016
17
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis. 25
27836952 2016
18
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. 25
27510903 2016
19
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. 25
26792177 2016
20
Timing, rates and spectra of human germline mutation. 25
26656846 2016
21
SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia. 25
26568241 2015
22
Telomere length in interstitial lung diseases. 25
25973743 2015
23
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. 25
26158642 2015
24
Clinical outcomes of lung transplant recipients with telomerase mutations. 25
26169663 2015
25
Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease. 25
25393420 2015
26
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
27
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. 25
25539146 2015
28
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. 25
25612863 2015
29
Telomerase mutations in smokers with severe emphysema. 25
25562321 2015
30
Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. 25
24833766 2014
31
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. 25
24504062 2014
32
Efficacy and safety of nintedanib in idiopathic pulmonary fibrosis. 25
24836310 2014
33
A phase 3 trial of pirfenidone in patients with idiopathic pulmonary fibrosis. 25
24836312 2014
34
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant. 25
24730976 2014
35
Is telomeropathy the explanation for combined pulmonary fibrosis and emphysema syndrome?: report of a family with TERT mutation. 25
24628319 2014
36
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. 25
24136335 2014
37
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. 25
23946118 2013
38
A familial history of pulmonary fibrosis in patients with chronic hypersensitivity pneumonitis. 25
22688445 2013
39
High-resolution CT scan findings in familial interstitial pneumonia do not conform to those of idiopathic interstitial pneumonia. 25
23364926 2012
40
Pleuroparenchymal fibroelastosis: a spectrum of histopathological and imaging phenotypes. 25
22441748 2012
41
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. 25
21483807 2011
42
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. 25
20656946 2010
43
Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. 25
20658481 2010
44
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. 25
20502709 2010
45
Syndromes of telomere shortening. 25
19405848 2009
46
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 25
19100526 2009
47
Adult-onset pulmonary fibrosis caused by mutations in telomerase. 25
17460043 2007
48
Telomerase mutations in families with idiopathic pulmonary fibrosis. 25
17392301 2007
49
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 25
16247010 2005
50
Pulmonary Fibrosis Predisposition Overview 61
20301408 2005

Variations for Pulmonary Fibrosis Predisposition

Expression for Pulmonary Fibrosis Predisposition

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

Pathways for Pulmonary Fibrosis Predisposition

Pathways related to Pulmonary Fibrosis Predisposition according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 SFTPC SFTPA2
2
Show member pathways
10.79 SFTPC SFTPA2
3 10.72 TERT SFTPC SFTPA2 MUC5B
4
Show member pathways
10.35 SFTPC SFTPA2

GO Terms for Pulmonary Fibrosis Predisposition

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

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 9.32 TERT TERC
2 clathrin-coated endocytic vesicle GO:0045334 9.26 SFTPC SFTPA2
3 telomerase holoenzyme complex GO:0005697 9.16 TERT TERC
4 lamellar body GO:0042599 8.96 SFTPC SFTPA2
5 telomerase catalytic core complex GO:0000333 8.62 TERT TERC

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.32 TERT TERC
2 DNA biosynthetic process GO:0071897 9.26 TERT TERC
3 respiratory gaseous exchange GO:0007585 9.16 SFTPC SFTPA2
4 negative regulation of cellular senescence GO:2000773 8.96 TERT TERC
5 telomere maintenance via telomerase GO:0007004 8.62 TERT TERC

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

# Name GO ID Score Top Affiliating Genes
1 RNA-directed DNA polymerase activity GO:0003964 9.16 TERT TERC
2 telomerase activity GO:0003720 8.96 TERT TERC
3 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERT TERC

Sources for Pulmonary Fibrosis Predisposition

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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