MCID: PLM044
MIFTS: 31

Pulmonary Fibrosis, Familial malady

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Fibrosis, Familial

Aliases & Descriptions 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 idiopathic interstitial pneumonia and sftpc-related familial pulmonary fibrosis. An important gene associated with Pulmonary Fibrosis, Familial is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Phagosome and Diseases of metabolism. The drugs Bosentan and Sildenafil Citrate have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and liver, and related phenotype is respiratory system.

GeneReviews: NBK1230

Related Diseases for Pulmonary Fibrosis, Familial

Diseases in the Pulmonary Fibrosis family:

Localized Pulmonary Fibrosis Pulmonary Fibrosis, Familial
Sftpc-Related Familial Pulmonary Fibrosis Terc-Related Familial Pulmonary Fibrosis
Tert-Related Familial Pulmonary Fibrosis

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 idiopathic interstitial pneumonia 29.5 SFTPA1 SFTPA2
2 sftpc-related familial pulmonary fibrosis 11.9
3 terc-related familial pulmonary fibrosis 11.9
4 tert-related familial pulmonary fibrosis 11.9
5 pulmonary fibrosis, idiopathic 11.2
6 ectodermal dysplasia with natal teeth, turnpenny type 10.1 SFTPA1 SFTPC
7 common wart 10.1 SFTPA1 SFTPC
8 back pain 10.1 SFTPA1 SFTPC
9 osteochondritis dissecans 10.1 SFTPA2 SFTPC
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.1 SFTPC TERT
11 cranial nerve malignant neoplasm 10.1 SFTPA1 SFTPA2
12 apocrine adenocarcinoma 10.0 SFTPA1 SFTPA2
13 folic acid deficiency anemia 10.0 SFTPA1 SFTPA2
14 oliver syndrome 10.0 SFTPA1 SFTPA2
15 hypocalciuric hypercalcemia, type i 10.0 TERC TERT
16 acute chest syndrome 10.0 MUC5B SFTPC
17 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.0 TERC TERT
18 early-onset anterior polar cataract 10.0 TERC TERT
19 nervous system cancer 10.0 MUC5B SFTPC
20 pneumonia 9.9
21 renal tubular dysgenesis, agt-related 9.9 SFTPA1 SFTPA2 SFTPC
22 charcot-marie-tooth disease type 2n 9.9 TERC TERT
23 rectum squamous cell carcinoma 9.9 MUC5B SFTPC
24 pulmonary fibrosis 9.9
25 thanatophoric dysplasia, type ii 9.9 TERC TERT
26 skin atrophy 9.7 TERC TERT
27 malignant neoplasm of acoustic nerve 9.7 MUC5B SFTPA1 SFTPA2 SFTPC
28 interstitial lung disease 9.6
29 lung disease 9.6
30 renal tubular acidosis 9.4 SFTPA1 SFTPA2 SFTPC TERC TERT
31 scn9a-related inherited erythromelalgia 9.2 MUC5B SFTPA1 SFTPA2 SFTPC TERC TERT
32 aortic aneurysm, familial thoracic 6 9.2 MUC5B SFTPA1 SFTPA2 SFTPC TERC TERT

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 respiratory system MP:0005388 8.92 MUC5B SFTPA1 SFTPC TERT

Drugs & Therapeutics for Pulmonary Fibrosis, Familial

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

(show top 50) (show all 73)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
2 Sildenafil Citrate Phase 4 171599-83-0
3 Vasodilator Agents Phase 4,Phase 2
4 Endothelin Receptor Antagonists Phase 4
5 Phosphodiesterase 5 Inhibitors Phase 4
6 Phosphodiesterase Inhibitors Phase 4
7 Antihypertensive Agents Phase 4,Phase 3,Phase 2
8 Anti-Bacterial Agents Phase 4,Phase 1
9 Anti-Infective Agents Phase 4,Phase 1
10 Antibiotics, Antitubercular Phase 4
11 Antitubercular Agents Phase 4
12 Citrate Nutraceutical Phase 4
13
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
14 serine Nutraceutical Phase 4
15
Treprostinil Approved, Investigational Phase 3 81846-19-7 54786 6918140
16
Azithromycin Approved Phase 3 83905-01-5 55185 53477736 447043
17
Captopril Approved Phase 2 62571-86-2 44093
18
Nitric Oxide Approved Phase 2 10102-43-9 145068
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
rituximab Approved Phase 2 174722-31-7 10201696
22
protease inhibitors Phase 2
23 HIV Protease Inhibitors Phase 2
24 Angiotensin-Converting Enzyme Inhibitors Phase 2
25 Neurotransmitter Agents Phase 2
26 Peripheral Nervous System Agents Phase 2
27 Endothelium-Dependent Relaxing Factors Phase 2
28 Anti-Asthmatic Agents Phase 2
29 Protective Agents Phase 2
30 Respiratory System Agents Phase 2
31 Autonomic Agents Phase 2
32 Bronchodilator Agents Phase 2
33 Antioxidants Phase 2
34 Roscovitine Phase 2
35 Immunoglobulins Phase 2
36 Antibodies, Monoclonal Phase 2
37 Protein Kinase Inhibitors Phase 2
38 Antibodies Phase 2
39 Antirheumatic Agents Phase 2
40 Calamus Nutraceutical Phase 2
41 Sunflower Nutraceutical Phase 2
42
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757 53477783
43
Norgestrel Approved Phase 1 6533-00-2 13109
44
Norgestimate Approved Phase 1 35189-28-7 6540478
45
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
46
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
47 Hormone Antagonists Phase 1
48 Hormones Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
50 Estradiol valerate Phase 1 979-32-8

Interventional clinical trials:

(show top 50) (show all 51)
id Name Status NCT ID Phase
1 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4
2 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4
3 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4
4 Standardized Treatment of Pulmonary Exacerbations II Recruiting NCT02781610 Phase 4
5 Treprostinil Therapy For Patients With Interstitial Lung Disease And Severe Pulmonary Arterial Hypertension Unknown status NCT00705133 Phase 3
6 Behavioral Treatment of Weight Gain in CF Completed NCT00006169 Phase 3
7 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3
8 Captopril in Treating Patients With Non-Small Cell Lung Cancer or Limited-Stage Small Cell Lung Cancer That Has Been Previously Treated With Radiation Therapy With or Without Chemotherapy Unknown status NCT00077064 Phase 2
9 Study in Subjects With PAH and PH Secondary to IPF Using Inhaled GeNOsyl. Completed NCT01265888 Phase 2
10 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
11 Rituximab for Treatment of Systemic Sclerosis-Associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT01086540 Phase 2
12 Evaluation of (R)-Roscovitine Safety and Effects in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation Recruiting NCT02649751 Phase 2
13 Pro-resolving Effect of MAG-DHA in Cystic Fibrosis (PREMDIC) Terminated NCT02518672 Phase 2
14 Contraceptive Hormones and Women With Cystic Fibrosis Terminated NCT02144246 Phase 1
15 Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome Unknown status NCT02439528
16 The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study Unknown status NCT01278719
17 The Functional and Clinicopathological Roles and Therapeutic Implication of Connective Tissue Growth Factor in Peritoneal Metastasis of Gastric Cancer Unknown status NCT01627119
18 Non Ivasive Prenatal Diagnosis (NIPD) of Cystic Fibrosis Unknown status NCT02130648 Early Phase 1
19 Metabolic Abnormalities in Hispanic Children With Cystic Fibrosis Unknown status NCT00287443
20 Linkage Study in Familial Pulmonary Fibrosis Completed NCT00016627
21 Pulmonary Fibrosis and Telomerase Mutation Study Completed NCT01501578
22 Contribution of Echocardiography to Prognostic Evaluation of Pulmonary Arterial Hypertension Completed NCT02885155
23 Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM) Completed NCT02869932
24 The Carrier Rates of Pseudomonas Aeruginosa in Family Members of Children With Cystic Fibrosis Completed NCT01616862
25 Evaluation of a Decision Aid for Adult Cystic Fibrosis Patients Considering Bilateral Lung Transplantation Completed NCT00345449
26 Microbial Community Composition and Dynamics in Lungs of Cystic Fibrosis Sibling Pairs Completed NCT00590330
27 Investigating the Use of a Positive Parenting Programme to Improve Treatment Adherence in Cystic Fibrosis Completed NCT02501369
28 Blood Collection From Individuals With Lung Disease for Genetic Studies (Qatar) Completed NCT00504361
29 Blood Collection From Individuals With Lung Disease for Genetic Studies Completed NCT00362739
30 Genetic Modifiers of Cystic Fibrosis: Sibling Study Completed NCT00037778
31 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
32 Choline Nutrition in Children With Cystic Fibrosis Completed NCT01070446
33 Development of a New Tool for Dyspnea Measurement in Chronic Respiratory Diseases Completed NCT02229994
34 Quality of Life in Pediatric Transplant Recipients Completed NCT00209196
35 An Interactive Program to Improve Care for Children With CF Completed NCT00185549
36 Choline Nutritional Status Of Children With Cystic Fibrosis X-Sectional Study Completed NCT01150136
37 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
38 A Study of Sweat Testing Using a Quantitative Patch Completed NCT01345617
39 Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF) Recruiting NCT01088217
40 Pulmonary Fibrosis Contact Registry Recruiting NCT01935726
41 Natural History of Bronchiectasis Recruiting NCT00943514
42 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Recruiting NCT02859194
43 Study of Mycobacterial Infections Recruiting NCT00018044
44 Social Determinants in Chronic Disease in British Columbia Recruiting NCT02203084
45 Peritoneal Dialysis as an Option of Unplanned Initiation of Chronic Dialysis Recruiting NCT02646436
46 Genetic Modifiers of Cystic Fibrosis Related Diabetes Recruiting NCT01113216
47 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
48 Ventricular Reversed Remodeling After LTX in PAH Patients Enrolling by invitation NCT02391441
49 Impact of Art Therapy on Anxiety Identified During Hospitalizations Among Children With Cystic Fibrosis Aged 8 to 13 Not yet recruiting NCT02693431
50 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, Bone, Liver, 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 11.59 SFTPA1 SFTPA2
2
Show member pathways
11.42 SFTPA1 SFTPA2 SFTPC
3 11.25 SFTPA1 SFTPA2
4
Show member pathways
10.98 SFTPA1 SFTPA2
5
Show member pathways
10.97 SFTPA1 SFTPA2 SFTPC
6 10.82 MUC5B SFTPA1 SFTPA2 SFTPC TERT
7
Show member pathways
10.53 SFTPA1 SFTPA2 SFTPC

GO Terms for Pulmonary Fibrosis, Familial

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.46 MUC5B SFTPA1 SFTPA2 SFTPC
2 collagen trimer GO:0005581 9.26 SFTPA1 SFTPA2
3 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPA1 SFTPA2 SFTPC
4 lamellar body GO:0042599 8.8 SFTPA1 SFTPA2 SFTPC

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

id Name GO ID Score Top Affiliating Genes
1 toll-like receptor signaling pathway GO:0002224 9.16 SFTPA1 SFTPA2
2 cellular protein metabolic process GO:0044267 9.13 SFTPA1 SFTPA2 SFTPC
3 respiratory gaseous exchange GO:0007585 8.8 SFTPA1 SFTPA2 SFTPC

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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