MCID: SRF006
MIFTS: 37

Surfactant Dysfunction

Categories: Metabolic diseases, Respiratory diseases

Aliases & Classifications for Surfactant Dysfunction

MalaCards integrated aliases for Surfactant Dysfunction:

Name: Surfactant Dysfunction 26 74
Pulmonary Surfactant Metabolism Dysfunction 26 30
Interstitial Lung Disease Due to Surfactant Deficiency 26
Surfactant Metabolism Dysfunction, Pulmonary 41
Surfactant Metabolism Deficiency 26

Classifications:



External Ids:

UMLS 74 C3711368

Summaries for Surfactant Dysfunction

Genetics Home Reference : 26 Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired.

MalaCards based summary : Surfactant Dysfunction, also known as pulmonary surfactant metabolism dysfunction, is related to acute respiratory distress syndrome and pulmonary fibrosis. An important gene associated with Surfactant Dysfunction is SFTPC (Surfactant Protein C), and among its related pathways/superpathways are Linoleic acid metabolism and Pancreatic secretion. The drugs Calfactant and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung and testes, and related phenotype is respiratory system.

Wikipedia : 77 Surfactant metabolism dysfunction is a condition where pulmonary surfactant is insufficient for adequate... more...

Related Diseases for Surfactant Dysfunction

Diseases related to Surfactant Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 acute respiratory distress syndrome 30.1 SFTPB SFTPC
2 pulmonary fibrosis 29.8 SFTPA1 SFTPC
3 pneumonia 29.8 SFTPB SFTPC
4 diaphragmatic hernia, congenital 29.5 SFTPB SFTPC
5 interstitial lung disease 29.5 ABCA3 SFTPB SFTPC
6 lung disease 29.2 ABCA3 SFTPA1 SFTPB SFTPC
7 surfactant metabolism dysfunction, pulmonary, 4 12.1
8 surfactant metabolism dysfunction, pulmonary, 2 12.1
9 surfactant metabolism dysfunction, pulmonary, 3 12.1
10 surfactant metabolism dysfunction, pulmonary, 5 12.1
11 surfactant metabolism dysfunction, pulmonary, 1 12.0
12 pulmonary alveolar proteinosis, acquired 11.3
13 respiratory failure 10.1 SFTPB SFTPC
14 desquamative interstitial pneumonia 10.1 ABCA3 SFTPC
15 diffuse pulmonary fibrosis 10.1 ABCA3 SFTPC
16 pulmonary immaturity 10.1 SFTPB SFTPC
17 diaphragm disease 10.1 SFTPB SFTPC
18 pulmonary alveolar proteinosis 10.0 SFTPB SFTPC
19 adult respiratory distress syndrome 10.0 SFTPB SFTPC
20 neonatal respiratory failure 9.9 ABCA3 SFTPB SFTPC
21 cystic fibrosis 9.8
22 asthma 9.8
23 lymphangioleiomyomatosis 9.8
24 meconium aspiration syndrome 9.8
25 bronchiolitis 9.8
26 pulmonary tuberculosis 9.8
27 children's interstitial lung disease 9.8
28 paraquat poisoning 9.8
29 idiopathic interstitial pneumonia 9.8 SFTPA1 SFTPC
30 respiratory distress syndrome in premature infants 9.6 ABCA3 SFTPA1 SFTPB SFTPC
31 pulmonary fibrosis, idiopathic 9.6 ABCA3 SFTPA1 SFTPB SFTPC
32 newborn respiratory distress syndrome 9.6 ABCA3 PLA2G2A SFTPB SFTPC

Graphical network of the top 20 diseases related to Surfactant Dysfunction:



Diseases related to Surfactant Dysfunction

Symptoms & Phenotypes for Surfactant Dysfunction

MGI Mouse Phenotypes related to Surfactant Dysfunction:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 ABCA3 SFTPA1 SFTPB SFTPC

Drugs & Therapeutics for Surfactant Dysfunction

Drugs for Surfactant Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calfactant Approved Phase 3 183325-78-2
2
Nitric Oxide Approved Phase 3 10102-43-9 145068
3 Antioxidants Phase 3
4 Vasodilator Agents Phase 3
5 Peripheral Nervous System Agents Phase 3
6 Free Radical Scavengers Phase 3
7 Pulmonary Surfactants Phase 3,Not Applicable
8 Anti-Asthmatic Agents Phase 3
9 Autonomic Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 Endothelium-Dependent Relaxing Factors Phase 3
12 Bronchodilator Agents Phase 3
13 Respiratory System Agents Phase 3
14 Protective Agents Phase 3
15
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
16
Hydroxychloroquine Approved Not Applicable 118-42-3 3652
17
tannic acid Approved Not Applicable 1401-55-4
18 Anti-Infective Agents Not Applicable
19 Antimalarials Not Applicable
20 Antiparasitic Agents Not Applicable
21 Antiprotozoal Agents Not Applicable
22 Antirheumatic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Late Surfactant for Prevention of Bronchopulmonary Dysplasia Unknown status NCT01022580 Phase 3 Infasurf surfactant (ONY, Inc.)
2 Trial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric Oxide Completed NCT00569530 Phase 3 Infasurf (ONY Inc.);Sham
3 Hydroxychloroquin (HCQ) in chILD of Genetic Defect Recruiting NCT03822780 Not Applicable Hydroxychloroquin
4 The ASTERS Study: Assessing the Role of Sphingolipids in AcuTE Respiratory Distress Syndrome (ARDS) Not yet recruiting NCT03654352

Search NIH Clinical Center for Surfactant Dysfunction

Genetic Tests for Surfactant Dysfunction

Genetic tests related to Surfactant Dysfunction:

# Genetic test Affiliating Genes
1 Pulmonary Surfactant Metabolism Dysfunction 30

Anatomical Context for Surfactant Dysfunction

MalaCards organs/tissues related to Surfactant Dysfunction:

42
Lung, Testes

Publications for Surfactant Dysfunction

Articles related to Surfactant Dysfunction:

(show all 47)
# Title Authors Year
1
Surfactant dysfunction and alveolar collapse are linked with fibrotic septal wall remodeling in the TGF-β1-induced mouse model of pulmonary fibrosis. ( 30700849 )
2019
2
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. ( 29505158 )
2018
3
Surfactant Dysfunction in ARDS and Bronchiolitis is Repaired with Cyclodextrins. ( 29635617 )
2018
4
Pulmonary surfactant dysfunction in pediatric cystic fibrosis: Mechanisms and reversal with a lipid-sequestering drug. ( 28599957 )
2017
5
Surfactant dysfunction during over-expression of TGF-I^1 precedes profibrotic lung remodeling in vivo. ( 27106287 )
2016
6
Cholesterol-mediated surfactant dysfunction is mitigated by surfactant protein A. ( 25522687 )
2015
7
Computational Models of Ventilator Induced Lung Injury and Surfactant Dysfunction. ( 26904138 )
2015
8
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. ( 26547207 )
2015
9
Surfactant Dysfunction and Lung Inflammation in the Female Mouse Model of Lymphangioleiomyomatosis (LAM). ( 25474372 )
2014
10
Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction. ( 24591516 )
2014
11
How to overcome surfactant dysfunction in meconium aspiration syndrome? ( 23473924 )
2013
12
Genetic testing in children with surfactant dysfunction. ( 23625987 )
2013
13
Increased phospholipase A2 and lyso-phosphatidylcholine levels are associated with surfactant dysfunction in lung contusion injury in mice. ( 22853859 )
2013
14
The role of ventilation-induced surfactant dysfunction and atelectasis in causing acute respiratory distress syndrome. ( 22227381 )
2012
15
Benzo(a)pyrene-induced pulmonary inflammation, edema, surfactant dysfunction, and injuries in rats: alleviation by farnesol. ( 22168545 )
2012
16
Surfactant dysfunction. ( 22018035 )
2011
17
Genetic disorders of surfactant dysfunction. ( 19220077 )
2009
18
Effect of mycobacterial lipids on surface properties of Curosurf: implications for lung surfactant dysfunction in tuberculosis. ( 18515195 )
2008
19
Surfactant dysfunction in lung contusion with and without superimposed gastric aspiration in a rat model. ( 18323743 )
2008
20
Molecular interactions of cord factor with dipalmitoylphosphatidylcholine monolayers: implications for lung surfactant dysfunction in pulmonary tuberculosis. ( 18455914 )
2008
21
Surfactant dysfunction and lung injury due to the E. coli virulence factor hemolysin in a rat pneumonia model. ( 17341765 )
2007
22
Surfactant dysfunction in SP-A-/- and iNOS-/- mice with mycoplasma infection. ( 16917077 )
2007
23
Combined activities of secretory phospholipases and eosinophil lysophospholipases induce pulmonary surfactant dysfunction by phospholipid hydrolysis. ( 17321580 )
2007
24
Lysophospholipid generation and phosphatidylglycerol depletion in phospholipase A(2)-mediated surfactant dysfunction. ( 15516491 )
2005
25
Surfactant dysfunction mutations in children's interstitial lung disease and beyond. ( 16216835 )
2005
26
Lung surfactant dysfunction in tuberculosis: effect of mycobacterial tubercular lipids on dipalmitoylphosphatidylcholine surface activity. ( 16198543 )
2005
27
Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. ( 14656744 )
2004
28
Hydrolysis of surfactant phospholipids catalyzed by phospholipase A2 and eosinophil lysophospholipases causes surfactant dysfunction: a mechanism for small airway closure in asthma. ( 12628972 )
2003
29
Human eosinophil group IID secretory phospholipase A2 causes surfactant dysfunction. ( 12628992 )
2003
30
Alveolar albumin leakage during large tidal volume ventilation and surfactant dysfunction. ( 11442575 )
2001
31
Decreased surfactant protein-B expression and surfactant dysfunction in a murine model of acute lung injury. ( 11472973 )
2001
32
Paraquat poisoning: an experimental model of dose-dependent acute lung injury due to surfactant dysfunction. ( 9698796 )
1998
33
Surfactant dysfunction develops in BALB/c mice infected with respiratory syncytial virus. ( 9262218 )
1997
34
Prediction of surfactant dysfunction in term infants by the click test. ( 9141114 )
1997
35
Pulmonary clearance of 99mTc-DTPA in experimental surfactant dysfunction treated with surfactant instillation. ( 9062616 )
1997
36
Mechanisms of surfactant dysfunction in early acute lung injury. ( 9184787 )
1997
37
Surfactant dysfunction makes lungs vulnerable to repetitive collapse and reexpansion. ( 9001330 )
1997
38
Surfactant dysfunction after inhalation of nitric oxide. ( 8806910 )
1996
39
Pulmonary surfactant dysfunction in congenital diaphragmatic hernia: experimental and clinical findings. ( 8790910 )
1996
40
Increased airway resistance due to surfactant dysfunction can be alleviated with aerosol surfactant. ( 8909780 )
1996
41
A mechanism of nitric oxide-induced surfactant dysfunction. ( 8806911 )
1996
42
Surfactant dysfunction in lung preservation. ( 7570947 )
1995
43
Surfactant dysfunction develops when the immunized guinea-pig is challenged with ovalbumin aerosol. ( 8581837 )
1995
44
Pulmonary clearance of tracers with different lipid and water solubility in experimental surfactant dysfunction. ( 7684002 )
1993
45
Pulmonary clearance of 99mTc--DTPA and 99mTc-albumin in rabbits with surfactant dysfunction and lung injury. ( 1395450 )
1992
46
Protein leaks and surfactant dysfunction in the pathogenesis of respiratory distress syndrome. ( 2742683 )
1989
47
Surfactant dysfunction in diabetic offspring: inhibitors and fatty acid lecithin content. ( 6687881 )
1983

Variations for Surfactant Dysfunction

Expression for Surfactant Dysfunction

Search GEO for disease gene expression data for Surfactant Dysfunction.

Pathways for Surfactant Dysfunction

Pathways related to Surfactant Dysfunction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 PLA2G2A PLA2G2D
2 11.36 PLA2G2A PLA2G2D
3
Show member pathways
11.3 SFTPA1 SFTPB SFTPC
4 11.12 SFTPA1 SFTPC
5
Show member pathways
10.9 PLA2G2A PLA2G2D
6
Show member pathways
10.56 ABCA3 SFTPA1 SFTPB SFTPC
7
Show member pathways
10.53 SFTPA1 SFTPB SFTPC

GO Terms for Surfactant Dysfunction

Cellular components related to Surfactant Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 PLA2G2A PLA2G2D SFTPA1 SFTPB SFTPC
2 extracellular space GO:0005615 9.77 ABCA3 PLA2G2A SFTPA1 SFTPB SFTPC
3 endoplasmic reticulum membrane GO:0005789 9.71 PLA2G2A SFTPA1 SFTPB SFTPC
4 multivesicular body GO:0005771 9.32 SFTPA1 SFTPB
5 multivesicular body lumen GO:0097486 9.26 SFTPB SFTPC
6 alveolar lamellar body GO:0097208 9.16 ABCA3 SFTPB
7 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPA1 SFTPB SFTPC
8 lamellar body GO:0042599 8.8 SFTPA1 SFTPB SFTPC

Biological processes related to Surfactant Dysfunction according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.51 PLA2G2A PLA2G2D
2 phospholipid metabolic process GO:0006644 9.49 PLA2G2A PLA2G2D
3 phosphatidic acid biosynthetic process GO:0006654 9.48 PLA2G2A PLA2G2D
4 phosphatidylcholine acyl-chain remodeling GO:0036151 9.46 PLA2G2A PLA2G2D
5 lipid metabolic process GO:0006629 9.46 ACADL PLA2G2A PLA2G2D SFTPB
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.43 PLA2G2A PLA2G2D
7 arachidonic acid secretion GO:0050482 9.4 PLA2G2A PLA2G2D
8 phosphatidylserine acyl-chain remodeling GO:0036150 9.37 PLA2G2A PLA2G2D
9 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.32 PLA2G2A PLA2G2D
10 phosphatidylinositol acyl-chain remodeling GO:0036149 9.26 PLA2G2A PLA2G2D
11 cellular protein metabolic process GO:0044267 9.26 ABCA3 SFTPA1 SFTPB SFTPC
12 respiratory gaseous exchange GO:0007585 8.8 SFTPA1 SFTPB SFTPC

Molecular functions related to Surfactant Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.37 PLA2G2A PLA2G2D
2 lipid transporter activity GO:0005319 9.32 ABCA3 SFTPA1
3 phospholipase A2 activity GO:0004623 9.26 PLA2G2A PLA2G2D
4 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.16 PLA2G2A PLA2G2D
5 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.96 PLA2G2A PLA2G2D
6 calcium-dependent phospholipase A2 activity GO:0047498 8.62 PLA2G2A PLA2G2D

Sources for Surfactant Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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