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 24 69
Pulmonary Surfactant Metabolism Dysfunction 24 36 28
Interstitial Lung Disease Due to Surfactant Deficiency 24
Surfactant Metabolism Deficiency 24

Classifications:



External Ids:

KEGG 36 H00217
UMLS 69 C3711368

Summaries for Surfactant Dysfunction

Genetics Home Reference : 24 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 diaphragmatic hernia, congenital. An important gene associated with Surfactant Dysfunction is ABCA3 (ATP Binding Cassette Subfamily A Member 3), and among its related pathways/superpathways are ABC transporters and Linoleic acid metabolism. The drugs Nitric Oxide and Calfactant have been mentioned in the context of this disorder. Affiliated tissues include lung and testes, and related phenotype is respiratory system.

Wikipedia : 72 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 33)
# Related Disease Score Top Affiliating Genes
1 acute respiratory distress syndrome 29.6 SFTPB SFTPC
2 diaphragmatic hernia, congenital 29.5 SFTPB SFTPC
3 interstitial lung disease 29.3 ABCA3 SFTPB SFTPC
4 pneumonia 29.1 SFTPB SFTPC
5 lung disease 28.6 ABCA3 SFTPA1 SFTPB SFTPC
6 surfactant metabolism dysfunction, pulmonary, 4 11.9
7 surfactant metabolism dysfunction, pulmonary, 2 11.9
8 surfactant metabolism dysfunction, pulmonary, 3 11.9
9 surfactant metabolism dysfunction, pulmonary, 5 11.9
10 surfactant metabolism dysfunction, pulmonary, 1 11.9
11 pulmonary alveolar proteinosis, acquired 11.2
12 desquamative interstitial pneumonia 10.2 ABCA3 SFTPC
13 diffuse pulmonary fibrosis 10.2 ABCA3 SFTPC
14 pulmonary immaturity 10.1 SFTPB SFTPC
15 diaphragm disease 10.1 SFTPB SFTPC
16 pulmonary alveolar proteinosis 10.1 SFTPB SFTPC
17 respiratory failure 10.0 SFTPB SFTPC
18 neonatal respiratory failure 9.9 ABCA3 SFTPB SFTPC
19 mycobacterium tuberculosis 1 9.9
20 idiopathic interstitial pneumonia 9.8 SFTPA1 SFTPC
21 pulmonary tuberculosis 9.6
22 fibrosis of extraocular muscles, congenital, 1 9.6
23 cystic fibrosis 9.6
24 children's interstitial lung disease 9.6
25 paraquat poisoning 9.6
26 asthma 9.6
27 lymphangioleiomyomatosis 9.6
28 hydrops, lactic acidosis, and sideroblastic anemia 9.6
29 meconium aspiration syndrome 9.6
30 pulmonary fibrosis 9.6 SFTPA1 SFTPC
31 newborn respiratory distress syndrome 9.5 ABCA3 PLA2G2A SFTPB SFTPC
32 respiratory distress syndrome in premature infants 9.3 ABCA3 SFTPA1 SFTPB SFTPC
33 pulmonary fibrosis, idiopathic 9.3 ABCA3 SFTPA1 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:

43
# 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2
Calfactant Approved Phase 3 183325-78-2
3 Respiratory System Agents Phase 3
4 Neurotransmitter Agents Phase 3
5 Vasodilator Agents Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Anti-Asthmatic Agents Phase 3
8 Endothelium-Dependent Relaxing Factors Phase 3
9 Protective Agents Phase 3
10 Pulmonary Surfactants Phase 3
11 Antioxidants Phase 3
12 Autonomic Agents Phase 3
13 Bronchodilator Agents Phase 3

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

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 28

Anatomical Context for Surfactant Dysfunction

MalaCards organs/tissues related to Surfactant Dysfunction:

38
Lung, Testes

Publications for Surfactant Dysfunction

Articles related to Surfactant Dysfunction:

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

Variations for Surfactant Dysfunction

ClinVar genetic disease variations for Surfactant Dysfunction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA3 NM_001089.2(ABCA3): c.128G> A (p.Arg43His) single nucleotide variant Pathogenic rs754714105 GRCh38 Chromosome 16, 2326201: 2326201

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 KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

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 11.35 PLA2G2A PLA2G2D
3
Show member pathways
11.31 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 9.8 PLA2G2A PLA2G2D SFTPA1 SFTPB SFTPC
2 extracellular space GO:0005615 9.72 ABCA3 PLA2G2A SFTPA1 SFTPB SFTPC
3 endoplasmic reticulum membrane GO:0005789 9.67 PLA2G2A SFTPA1 SFTPB SFTPC
4 multivesicular body lumen GO:0097486 9.26 SFTPB SFTPC
5 alveolar lamellar body GO:0097208 9.16 ABCA3 SFTPB
6 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPA1 SFTPB SFTPC
7 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 phospholipase A2 activity GO:0004623 9.26 PLA2G2A PLA2G2D
2 lipid transporter activity GO:0005319 9.16 ABCA3 SFTPA1
3 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.96 PLA2G2A PLA2G2D
4 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.62 PLA2G2A PLA2G2D

Sources for Surfactant Dysfunction

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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