MCID: PLM044
MIFTS: 22

Pulmonary Fibrosis, Familial malady

Genetic category

Summaries for Pulmonary Fibrosis, Familial

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19GeneReviews, 33MalaCards
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MalaCards: Pulmonary Fibrosis, Familial, also known as adult familial cryptogenic fibrosing alveolitis, is related to idiopathic pulmonary fibrosis and diffuse pulmonary fibrosis. An important gene associated with Pulmonary Fibrosis, Familial is TERT (telomerase reverse transcriptase), and among its related pathways are Pertussis and FOXA1 transcription factor network. The compounds lipofectamine and adpribose have been mentioned in the context of this disorder. Affiliated tissues include lung and bone marrow.

GeneReviews summary for pf

Aliases & Classifications for Pulmonary Fibrosis, Familial

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19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

pulmonary fibrosis, familial 19 20
adult familial cryptogenic fibrosing alveolitis 19
familial interstitial pneumonia 19


Related Diseases for Pulmonary Fibrosis, Familial

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pulmonary Fibrosis, Familial:



Diseases related to pulmonary fibrosis, familial

Clinical Features for Pulmonary Fibrosis, Familial

Drugs & Therapeutics for Pulmonary Fibrosis, Familial

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pulmonary Fibrosis, Familial

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20GeneTests
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Genetic tests related to Pulmonary Fibrosis, Familial:

id Genetic test Affiliating Genes
1 Familial Pulmonary Fibrosis20 TERT

Anatomical Context for Pulmonary Fibrosis, Familial

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33MalaCards
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MalaCards organs/tissues related to Pulmonary Fibrosis, Familial:

33
Lung, Bone marrow

Animal Models for Pulmonary Fibrosis, Familial or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pulmonary Fibrosis, Familial

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51PubMed
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Articles related to Pulmonary Fibrosis, Familial:

(show all 20)
idTitleAuthorsYear
1
Familial idiopathic pulmonary fibrosis. (23835999)
2013
2
Mutant surfactant A2 proteins associated with familial pulmonary fibrosis and lung cancer induce TGF-I^1 secretion. (23223528)
2012
3
Genetic characterization of a Chinese family with familial idiopathic pulmonary fibrosis. (22884059)
2012
4
Familial forms of nonspecific interstitial pneumonia/idiopathic pulmonary fibrosis: clinical course and genetic background. (22781209)
2012
5
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features. (22853774)
2012
6
Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis. (21917441)
2011
7
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. (21483807)
2011
8
Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred. (21828032)
2011
9
Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation. (21248320)
2011
10
Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis. (21613931)
2011
11
Familial interstitial pulmonary fibrosis: a large family with atypical clinical features. (21165348)
2010
12
Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. (20656946)
2010
13
Familial idiopathic pulmonary fibrosis in association with bone marrow hypoplasia and hepatic nodular regenerative hyperplasia: a new "trimorphic" syndrome. (19401489)
2009
14
Telomere shortening in familial and sporadic pulmonary fibrosis. (18635888)
2008
15
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. (16773575)
2006
16
Adult-onset familial pulmonary fibrosis in Japanese brothers. (14674994)
2004
17
Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis. (15133475)
2004
18
Pulmonary Fibrosis, Familial (20301408)
1993
19
Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. (493902)
1979
20
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. (940919)
1976

Genetic Variations for Pulmonary Fibrosis, Familial

Expression for genes affiliated with Pulmonary Fibrosis, Familial

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pulmonary Fibrosis, Familial

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

Pathways for genes affiliated with Pulmonary Fibrosis, Familial

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
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Pathways related to Pulmonary Fibrosis, Familial according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SFTPA2, SFTPA1
29.5SFTPA2, SFTPA1
39.5SFTPA2, SFTPA1

Compounds for genes affiliated with Pulmonary Fibrosis, Familial

Sources:
45Novoseek, 11DrugBank
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Compounds related to Pulmonary Fibrosis, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipofectamine459.5TERC, TERT
2adpribose459.5TERC, TERT
3tin(2+)459.4TERC, TERT
4zidovudine45 1110.2TERC, TERT

GO Terms for genes affiliated with Pulmonary Fibrosis, Familial

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16Gene Ontology
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Cellular components related to Pulmonary Fibrosis, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagenGO:0055819.5SFTPA2, SFTPA1

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

idNameGO IDScoreTop Affiliating Genes
1respiratory gaseous exchangeGO:0075858.9SFTPC, SFTPA2, SFTPA1

Products for genes affiliated with Pulmonary Fibrosis, Familial

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pulmonary Fibrosis, Familial

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet