MCID: PLM044
MIFTS: 23

Pulmonary Fibrosis, Familial

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis, Familial

MalaCards integrated aliases for Pulmonary Fibrosis, Familial:

Name: Pulmonary Fibrosis, Familial 23
Adult Familial Cryptogenic Fibrosing Alveolitis 24
Familial Interstitial pneumonia 23
Familial Interstitial Pneumonia 24
Familial Pulmonary Fibrosis 24

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 adult familial cryptogenic fibrosing alveolitis, is related to sftpc-related familial pulmonary fibrosis and terc-related familial pulmonary fibrosis. An important gene associated with Pulmonary Fibrosis, Familial is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways is Lung fibrosis. The drugs Bosentan and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and bone, and related phenotypes are neoplasm and respiratory system

GeneReviews: NBK1230

Related Diseases for Pulmonary Fibrosis, Familial

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



Diseases related to Pulmonary Fibrosis, Familial

Symptoms & Phenotypes for Pulmonary Fibrosis, Familial

MGI Mouse Phenotypes related to Pulmonary Fibrosis, Familial:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.96 SFTPC TERT
2 respiratory system MP:0005388 8.62 SFTPC TERT

Drugs & Therapeutics for Pulmonary Fibrosis, Familial

Drugs for Pulmonary Fibrosis, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
2 Antihypertensive Agents Phase 4,Phase 3
3 Endothelin Receptor Antagonists Phase 4
4 Phosphodiesterase 5 Inhibitors Phase 4
5 Phosphodiesterase Inhibitors Phase 4
6 Sildenafil Citrate Phase 4 171599-83-0
7 Vasodilator Agents Phase 4,Phase 2
8 Anti-Bacterial Agents Phase 4,Phase 1
9 Antibiotics, Antitubercular Phase 4
10 Anti-Infective Agents Phase 4,Phase 1
11 Antitubercular Agents Phase 4
12 Citrate Nutraceutical Phase 4
13
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
14
Treprostinil Approved, Investigational Phase 3 81846-19-7 54786 6918140
15
Nitric Oxide Approved Phase 2 10102-43-9 145068
16 Anti-Asthmatic Agents Phase 2
17 Antioxidants Phase 2
18 Autonomic Agents Phase 2
19 Bronchodilator Agents Phase 2
20 Endothelium-Dependent Relaxing Factors Phase 2
21 Neurotransmitter Agents Phase 2
22 Peripheral Nervous System Agents Phase 2
23 Protective Agents Phase 2
24 Respiratory System Agents Phase 2
25 Calamus Nutraceutical Phase 2
26 Sunflower Nutraceutical Phase 2
27
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
28
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
29
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
30
Norgestimate Approved Phase 1 35189-28-7 6540478
31
Norgestrel Approved Phase 1 6533-00-2 13109
32 Contraceptive Agents Phase 1
33 Contraceptives, Oral Phase 1
34 Contraceptives, Oral, Combined Phase 1
35 Estradiol 17 beta-cypionate Phase 1
36 Estradiol 3-benzoate Phase 1
37 Estradiol valerate Phase 1 979-32-8
38 Estrogens Phase 1
39 Fluoroquinolones Phase 1
40 Hormone Antagonists Phase 1
41 Hormones Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
43 Norgestimate, ethinyl estradiol drug combination Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 1
45 Polyestradiol phosphate Phase 1
46 Topoisomerase Inhibitors Phase 1

Interventional clinical trials:

(show all 29)

id Name Status NCT ID Phase Drugs
1 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4 bosentan
2 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4 sildenafil;sildenafil
3 Standardized Treatment of Pulmonary Exacerbations II Recruiting NCT02781610 Phase 4 Standard of care IV antibiotic(s)
4 Treprostinil Therapy For Patients With Interstitial Lung Disease And Severe Pulmonary Arterial Hypertension Unknown status NCT00705133 Phase 3 treprostinil
5 Study in Subjects With PAH and PH Secondary to IPF Using Inhaled GeNOsyl. Completed NCT01265888 Phase 2 Inhaled Nitric Oxide;Inhaled Nitric Oxide;Inhaled Nitric Oxide
6 Bardoxolone Methyl Evaluation in Patients With Pulmonary Hypertension (PH) - LARIAT Recruiting NCT02036970 Phase 2 Bardoxolone methyl;Placebo
7 Pro-resolving Effect of MAG-DHA in Cystic Fibrosis (PREMDIC) Terminated NCT02518672 Phase 2
8 Contraceptive Hormones and Women With Cystic Fibrosis Terminated NCT02144246 Phase 1 Ortho-cyclen, Ethinyl estradiol/norgestimate, 0.035 mg/0.250 mg
9 Linkage Study in Familial Pulmonary Fibrosis Completed NCT00016627
10 Pulmonary Fibrosis and Telomerase Mutation Study Completed NCT01501578
11 Contribution of Echocardiography to Prognostic Evaluation of Pulmonary Arterial Hypertension Completed NCT02885155
12 Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM) Completed NCT02869932
13 The Carrier Rates of Pseudomonas Aeruginosa in Family Members of Children With Cystic Fibrosis Completed NCT01616862
14 Evaluation of a Decision Aid for Adult Cystic Fibrosis Patients Considering Bilateral Lung Transplantation Completed NCT00345449
15 Microbial Community Composition and Dynamics in Lungs of Cystic Fibrosis Sibling Pairs Completed NCT00590330
16 Investigating the Use of a Positive Parenting Programme to Improve Treatment Adherence in Cystic Fibrosis Completed NCT02501369
17 Blood Collection From Individuals With Lung Disease for Genetic Studies (Qatar) Completed NCT00504361
18 Blood Collection From Individuals With Lung Disease for Genetic Studies Completed NCT00362739
19 Genetic Modifiers of Cystic Fibrosis: Sibling Study Completed NCT00037778
20 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
21 Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT01088217
22 Pulmonary Fibrosis Contact Registry Recruiting NCT01935726
23 Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome Recruiting NCT02439528
24 Natural History of Bronchiectasis Recruiting NCT00943514
25 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Recruiting NCT02859194
26 Study of Mycobacterial Infections Recruiting NCT00018044
27 Ventricular Reversed Remodeling After LTX in PAH Patients Enrolling by invitation NCT02391441
28 Toward Self-management in ILD Not yet recruiting NCT03300583
29 Peripheral Blood Biomarkers in Idiopathic Interstitial Pneumonias Terminated NCT01151527

Search NIH Clinical Center for Pulmonary Fibrosis, Familial

Genetic Tests for Pulmonary Fibrosis, Familial

Genetic tests related to Pulmonary Fibrosis, Familial:

id Genetic test Affiliating Genes
1 Familial Pulmonary Fibrosis 24 TERT

Anatomical Context for Pulmonary Fibrosis, Familial

MalaCards organs/tissues related to Pulmonary Fibrosis, Familial:

39
Lung, Liver, Bone, Bone Marrow

Publications for Pulmonary Fibrosis, Familial

Articles related to Pulmonary Fibrosis, Familial:

id 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

Pathways related to Pulmonary Fibrosis, Familial according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.42 SFTPC TERT

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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