MCID: PLM044
MIFTS: 12

Pulmonary Fibrosis, Familial

Categories: Respiratory diseases, Genetic diseases

Aliases & Classifications for Pulmonary Fibrosis, Familial

MalaCards integrated aliases for Pulmonary Fibrosis, Familial:

Name: Pulmonary Fibrosis, Familial 23
Familial Interstitial pneumonia 23

Characteristics:

GeneReviews:

23
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 lung, liver and bone.

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 11.6
2 pneumonia 10.0
3 pulmonary fibrosis 10.0
4 fibrosis of extraocular muscles, congenital, 1 9.8
5 idiopathic interstitial pneumonia 9.7
6 interstitial lung disease 9.7
7 lung disease 9.7

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mechanisms of Familial Pulmonary Fibrosis Recruiting NCT03437486
2 Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT01088217
3 Peripheral Blood Biomarkers in Idiopathic Interstitial Pneumonias Terminated NCT01151527

Search 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:

38
Lung, Liver, Bone, Bone Marrow

Publications for Pulmonary Fibrosis, Familial

Articles related to Pulmonary Fibrosis, Familial:

# Title Authors Year
1
Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis. ( 21613931 )
2011
2
Pulmonary Fibrosis, Familial ( 20301408 )
1993

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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