MCID: PLM044
MIFTS: 16

Pulmonary Fibrosis, Familial

Categories: Blood diseases, Genetic diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis, Familial

MalaCards integrated aliases for Pulmonary Fibrosis, Familial:

Name: Pulmonary Fibrosis, Familial 24
Familial Interstitial Pneumonia 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance for the phenotype associated with pathogenic variants in terc, tert, sftpc, and sftpa2 is unknown but thought to be incomplete. in the first report of penetrance, diaz de leon et al [2010] observed incomplete penetrance (~40%) in families with pulmonary fibrosis and tert pathogenic variants and variable phenotype ranging from lung disease to liver disease to bone marrow dysfunction...

Classifications:



Summaries for Pulmonary Fibrosis, Familial

MalaCards based summary : Pulmonary Fibrosis, Familial, also known as familial interstitial pneumonia, is related to pulmonary fibrosis, idiopathic and pneumonia. An important gene associated with Pulmonary Fibrosis, Familial is SFTPC (Surfactant Protein C). Affiliated tissues include bone, lung and liver.

GeneReviews: NBK1230

Related Diseases for Pulmonary Fibrosis, Familial

Diseases in the Pulmonary Fibrosis family:

Localized Pulmonary Fibrosis Pulmonary Fibrosis, Familial

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

# Related Disease Score Top Affiliating Genes
1 pulmonary fibrosis, idiopathic 11.7
2 pneumonia 10.3
3 pulmonary fibrosis 10.1
4 lung cancer 9.8
5 idiopathic interstitial pneumonia 9.8
6 interstitial lung disease 9.8
7 lung disease 9.8

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



Diseases related to Pulmonary Fibrosis, Familial

Symptoms & Phenotypes for Pulmonary Fibrosis, Familial

Drugs & Therapeutics for Pulmonary Fibrosis, Familial

Search Clinical Trials , NIH Clinical Center for Pulmonary Fibrosis, Familial

Genetic Tests for Pulmonary Fibrosis, Familial

Anatomical Context for Pulmonary Fibrosis, Familial

MalaCards organs/tissues related to Pulmonary Fibrosis, Familial:

41
Bone, Lung, Liver, Bone Marrow

Publications for Pulmonary Fibrosis, Familial

Articles related to Pulmonary Fibrosis, Familial:

(show all 12)
# Title Authors Year
1
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. ( 29361909 )
2018
2
Rare variants in RTEL1 are associated with familial interstitial pneumonia. ( 25607374 )
2015
3
Extensive Phenotyping of Individuals At-risk for Familial Interstitial Pneumonia Reveals Clues to the Pathogenesis of Interstitial Lung Disease. ( 25389906 )
2014
4
Familial interstitial pneumonia complicated by lung cancer in 2 sisters. ( 25340389 )
2014
5
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. ( 24504062 )
2014
6
Familial Interstitial Pneumonia (FIP). ( 25506193 )
2014
7
Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation. ( 24003539 )
2013
8
High-resolution CT scan findings in familial interstitial pneumonia do not conform to those of idiopathic interstitial pneumonia. ( 23364926 )
2012
9
Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis. ( 21613931 )
2011
10
Genetic analysis of sporadic and familial interstitial pneumonia. ( 18403331 )
2008
11
Clinical features and genetic analysis of surfactant protein C in adult-onset familial interstitial pneumonia. ( 16423270 )
2006
12
Clinical and pathologic features of familial interstitial pneumonia. ( 16109978 )
2005

Variations for Pulmonary Fibrosis, Familial

Expression for Pulmonary Fibrosis, Familial

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

Pathways for Pulmonary Fibrosis, Familial

GO Terms for Pulmonary Fibrosis, Familial

Sources for Pulmonary Fibrosis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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