MCID: PLM044
MIFTS: 27

Pulmonary Fibrosis, Familial malady

Genetic diseases category

Summaries for Pulmonary Fibrosis, Familial

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MalaCards: Pulmonary Fibrosis, Familial, also known as adult familial cryptogenic fibrosing alveolitis, is related to pulmonary fibrosis and idiopathic 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 bone marrow, bone and lung.

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 diseases


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

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Drugs & Therapeutics for Pulmonary Fibrosis, Familial

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5CenterWatch, 41NIH 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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32MalaCards
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MalaCards organs/tissues related to Pulmonary Fibrosis, Familial:

32
Bone marrow, Bone, Lung

Animal Models for Pulmonary Fibrosis, Familial or affiliated genes

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Publications for Pulmonary Fibrosis, Familial

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50PubMed
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Articles related to Pulmonary Fibrosis, Familial:

(show all 25)
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
Down-regulation of the inhibitor of growth family member 4 (ING4) in different forms of pulmonary fibrosis. (19250543)
2009
14
Familial idiopathic pulmonary fibrosis in association with bone marrow hypoplasia and hepatic nodular regenerative hyperplasia: a new "trimorphic" syndrome. (19401489)
2009
15
Telomere shortening in familial and sporadic pulmonary fibrosis. (18635888)
2008
16
Telomerase mutations in families with idiopathic pulmonary fibrosis. (17392301)
2007
17
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. (16773575)
2006
18
Adult-onset familial pulmonary fibrosis in Japanese brothers. (14674994)
2004
19
Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis. (15133475)
2004
20
Pulmonary fibrosis and other clinical manifestations of small vessel vasculitis in a family with seropositive juvenile rheumatoid arthritis. (11747262)
2002
21
alpha 1-antitrypsin deficiency and idiopathic pulmonary fibrosis in a family. (8865799)
1996
22
Pulmonary Fibrosis, Familial (20301408)
1993
23
Chronic extrinsic allergic alveolitis in a family with idiopathic pulmonary fibrosis: the importance of histological diagnosis. (1426227)
1992
24
Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. (493902)
1979
25
Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. (940919)
1976

Genetic Variations for Pulmonary Fibrosis, Familial

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Expression for genes affiliated with Pulmonary Fibrosis, Familial

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

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Pathways for genes affiliated with Pulmonary Fibrosis, Familial

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29KEGG, 37NCBI BioSystems Database, 53Reactome
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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

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44Novoseek, 11DrugBank
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Compounds related to Pulmonary Fibrosis, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipofectamine449.5TERC, TERT
2adpribose449.5TERC, TERT
3tin(2+)449.4TERC, TERT
4zidovudine44 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

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  • Antibodies
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Sources for Pulmonary Fibrosis, Familial

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet