MCID: SRF006
MIFTS: 33

Surfactant Dysfunction

Categories: Metabolic diseases, Respiratory diseases

Aliases & Classifications for Surfactant Dysfunction

MalaCards integrated aliases for Surfactant Dysfunction:

Name: Surfactant Dysfunction 43 70
Pulmonary Surfactant Metabolism Dysfunction 43 29
Interstitial Lung Disease Due to Surfactant Deficiency 43
Surfactant Metabolism Dysfunction, Pulmonary 39
Surfactant Metabolism Deficiency 43

Classifications:



External Ids:

UMLS 70 C3711368

Summaries for Surfactant Dysfunction

MedlinePlus Genetics : 43 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.The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months.Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive).There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.

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

Wikipedia : 73 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 45)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis 31.6 SFTPC SFTPB SFTPA1
2 meconium aspiration syndrome 30.0 SFTPB ABCA3
3 interstitial lung disease 29.9 SFTPC SFTPB ABCA3
4 respiratory failure 29.8 SFTPC SFTPB ABCA3
5 lung disease 29.7 SFTPC SFTPB SFTPA1 ABCA3
6 surfactant metabolism dysfunction, pulmonary, 1 29.5 SFTPC SFTPB ABCA3
7 pulmonary fibrosis 29.4 SFTPC SFTPA1 ABCA3
8 adult respiratory distress syndrome 29.4 SFTPC SFTPB PLA2G2A ABCA3
9 diaphragmatic hernia, congenital 29.3 SFTPC SFTPB
10 respiratory distress syndrome in premature infants 29.1 SFTPC SFTPB SFTPA1 ABCA3
11 pulmonary immaturity 29.1 SFTPC SFTPB SFTPA1 ABCA3
12 newborn respiratory distress syndrome 29.1 SFTPC SFTPB SFTPA1 ABCA3
13 pulmonary fibrosis, idiopathic 29.0 SFTPC SFTPB SFTPA1 ABCA3
14 surfactant metabolism dysfunction, pulmonary, 5 11.8
15 surfactant metabolism dysfunction, pulmonary, 4 11.7
16 surfactant metabolism dysfunction, pulmonary, 2 11.7
17 pulmonary alveolar proteinosis, acquired 11.3
18 congenital pulmonary alveolar proteinosis 11.3
19 respiratory distress syndrome, infant 10.1 SFTPC ABCA3
20 chronic congestive splenomegaly 10.0 SFTPC ABCA3
21 pulmonary hemosiderosis 10.0 SFTPB ABCA3
22 fibrosis of extraocular muscles, congenital, 1 10.0
23 pulmonary tuberculosis 10.0
24 diaphragm disease 9.9 SFTPC SFTPB
25 nonspecific interstitial pneumonia 9.9 SFTPC ABCA3
26 lipid pneumonia 9.9 SFTPC SFTPB ABCA3
27 neonatal respiratory failure 9.9 SFTPC SFTPB ABCA3
28 interstitial pneumonitis, desquamative, familial 9.9 SFTPC SFTPB ABCA3
29 acute interstitial pneumonia 9.9 SFTPC SFTPB ABCA3
30 tuberous sclerosis 1 9.8
31 cystic fibrosis 9.8
32 lymphangioleiomyomatosis 9.8
33 surfactant metabolism dysfunction, pulmonary, 3 9.8
34 hydrops, lactic acidosis, and sideroblastic anemia 9.8
35 pulmonary hypertension 9.8
36 tuberous sclerosis 9.8
37 bronchiolitis 9.8
38 children's interstitial lung disease 9.8
39 acyl-coa dehydrogenase deficiency 9.8
40 paraquat poisoning 9.8
41 idiopathic interstitial pneumonia 9.8 SFTPC SFTPB SFTPA1
42 hermansky-pudlak syndrome 9.7 SFTPC SFTPB ABCA3
43 gas gangrene 9.7 PLA2G2D PLA2G2A
44 pulmonary interstitial emphysema 9.6 SFTPC SFTPB SFTPA1 ABCA3
45 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.6 SFTPC SFTPB SFTPA1 ABCA3

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:

46
# 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 12)
# 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 Pulmonary Surfactants Phase 3
4 Respiratory System Agents Phase 3
5
Hydroxychloroquine Approved 118-42-3 3652
6
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
7
tannic acid Approved 1401-55-4
8 Antirheumatic Agents
9 Antiparasitic Agents
10 Antiprotozoal Agents
11 Antimalarials
12 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Hydroxychloroquine in Pediatric ILD With Genetic Surfactant Dysfunction Disorders: Cross-control, Prospective Study Recruiting NCT03822780 Hydroxychloroquin

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 29

Anatomical Context for Surfactant Dysfunction

MalaCards organs/tissues related to Surfactant Dysfunction:

40
Lung, Smooth Muscle

Publications for Surfactant Dysfunction

Articles related to Surfactant Dysfunction:

(show top 50) (show all 267)
# Title Authors PMID Year
1
Bovine surfactant in the treatment of pneumonia-induced-neonatal acute respiratory distress syndrome (NARDS) in neonates beyond 34 weeks of gestation: a multicentre, randomized, assessor-blinded, placebo-controlled trial. 61
33084980 2021
2
Fusion Expression and Fibrinolytic Activity of rPA/SP-B. 61
33645472 2021
3
Influence of early extubation on post-operative outcomes after pediatric lung transplantation. 61
32780552 2021
4
Implications of microscale lung damage for COVID-19 pulmonary ventilation dynamics: A narrative review. 61
33716059 2021
5
Surfactant dysfunction disorder masquerading as meconium aspiration syndrome and persistent pulmonary hypertension of the newborn. 61
33504532 2021
6
Early cardiac injury in acute respiratory distress syndrome: comparison of two experimental models. 61
33471542 2020
7
Aging impairs alveolar epithelial type II cell function in acute lung injury. 61
32877222 2020
8
The POOR Get POORer: A Hypothesis for the Pathogenesis of Ventilator-induced Lung Injury. 61
33054329 2020
9
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter. 61
32532878 2020
10
Association of SNP-SNP Interactions of Surfactant Protein Genes with Pediatric Acute Respiratory Failure. 61
32326132 2020
11
[Immunodeficiency diseases with interstitial lung disease as major clinical manifestations: report of six cases]. 61
32135596 2020
12
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. 61
32150563 2020
13
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age. 61
31969166 2020
14
Hidden Microatelectases Increase Vulnerability to Ventilation-Induced Lung Injury. 61
33071807 2020
15
Pulmonary Aptamer Signatures in Children's Interstitial and Diffuse Lung Disease. 61
31409098 2019
16
Genetic basis of surfactant dysfunction in Chinese children: A retrospective study. 61
31081264 2019
17
Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations. 61
31462320 2019
18
Suppression of pulmonary group B streptococcal proliferation and translocation by surfactants in ventilated near-term newborn rabbits. 61
31086290 2019
19
High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). 61
30927038 2019
20
Surfactant dysfunction and alveolar collapse are linked with fibrotic septal wall remodeling in the TGF-β1-induced mouse model of pulmonary fibrosis. 61
30700849 2019
21
High-resolution CT findings of pulmonary interstitial glycogenosis. 61
29687227 2018
22
CT features of diffuse lung disease in infancy. 61
29569218 2018
23
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 61
29505158 2018
24
Effective in vivo treatment of acute lung injury with helical, amphipathic peptoid mimics of pulmonary surfactant proteins. 61
29717157 2018
25
Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome. 61
29255193 2018
26
Chronic interstitial lung disease in children. 61
29436403 2018
27
Surfactant Dysfunction in ARDS and Bronchiolitis is Repaired with Cyclodextrins. 61
29635617 2018
28
Interstitial Lung Disease in Children Made Easier…Well, Almost. 61
29019755 2017
29
Selective inhibition of NF-kappaB and surfactant therapy in experimental meconium-induced lung injury. 61
28937237 2017
30
Pulmonary surfactant dysfunction in pediatric cystic fibrosis: Mechanisms and reversal with a lipid-sequestering drug. 61
28599957 2017
31
Surfactant replacement therapy reduces acute lung injury and collapse induration-related lung remodeling in the bleomycin model. 61
28450283 2017
32
The Montreux definition of neonatal ARDS: biological and clinical background behind the description of a new entity. 61
28687343 2017
33
Interstitial lung disease in newborns. 61
28363760 2017
34
Epithelial Gpr116 regulates pulmonary alveolar homeostasis via Gq/11 signaling. 61
28570277 2017
35
Plasma membrane wounding and repair in pulmonary diseases. 61
28062486 2017
36
A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. 61
29624232 2017
37
Tools to explore ABCA3 mutations causing interstitial lung disease. 61
27177387 2016
38
Lethal H1N1 influenza A virus infection alters the murine alveolar type II cell surfactant lipidome. 61
27836900 2016
39
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report. 61
27670912 2016
40
Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia. 61
27512515 2016
41
Surfactant deficiency in full-term newborns with transient tachypnea delivered by elective C-section. 61
26584251 2016
42
Surfactant dysfunction during overexpression of TGF-β1 precedes profibrotic lung remodeling in vivo. 61
27106287 2016
43
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. 61
26547207 2016
44
Gene expression profile of oxidative stress and antioxidant defense in lung tissue of patients exposed to sulfur mustard. 61
27085470 2016
45
Surfactant proteins in pediatric interstitial lung disease. 61
26375475 2016
46
Effects of S-Nitroso-N-Acetyl-Penicillamine (SNAP) on Inflammation, Lung Tissue Apoptosis and iNOS Activity in a Rabbit Model of Acute Lung Injury. 61
27334732 2016
47
NOS-2 Inhibition in Phosgene-Induced Acute Lung Injury. 61
25870319 2015
48
Surfactant dysfunction and lung inflammation in the female mouse model of lymphangioleiomyomatosis. 61
25474372 2015
49
Linking progression of fibrotic lung remodeling and ultrastructural alterations of alveolar epithelial type II cells in the amiodarone mouse model. 61
25957292 2015
50
Biomarkers in acute lung injury. 61
25466727 2015

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
11.43 PLA2G2D PLA2G2A
2
Show member pathways
11.3 SFTPC SFTPB SFTPA1
3 11.12 SFTPC SFTPA1
4
Show member pathways
10.92 PLA2G2D PLA2G2A
5
Show member pathways
10.56 SFTPC SFTPB SFTPA1 ABCA3
6
Show member pathways
10.53 SFTPC SFTPB SFTPA1

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 SFTPC SFTPB SFTPA1 PLA2G2D PLA2G2A
2 extracellular space GO:0005615 9.72 SFTPC SFTPB SFTPA1 PLA2G2A ABCA3
3 endoplasmic reticulum membrane GO:0005789 9.71 SFTPC SFTPB SFTPA1 PLA2G2A
4 multivesicular body GO:0005771 9.37 SFTPB SFTPA1
5 clathrin-coated endocytic vesicle GO:0045334 9.33 SFTPC SFTPB SFTPA1
6 multivesicular body lumen GO:0097486 9.26 SFTPC SFTPB
7 lamellar body GO:0042599 9.13 SFTPC SFTPB SFTPA1
8 alveolar lamellar body GO:0097208 8.8 SFTPC SFTPB ABCA3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.67 SFTPB PLA2G2D PLA2G2A ACADL
2 phospholipid metabolic process GO:0006644 9.54 PLA2G2D PLA2G2A
3 phosphatidic acid biosynthetic process GO:0006654 9.52 PLA2G2D PLA2G2A
4 phosphatidylcholine acyl-chain remodeling GO:0036151 9.51 PLA2G2D PLA2G2A
5 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.49 PLA2G2D PLA2G2A
6 arachidonic acid secretion GO:0050482 9.48 PLA2G2D PLA2G2A
7 phosphatidylserine acyl-chain remodeling GO:0036150 9.46 PLA2G2D PLA2G2A
8 cellular protein metabolic process GO:0044267 9.46 SFTPC SFTPB SFTPA1 ABCA3
9 phosphatidylinositol acyl-chain remodeling GO:0036149 9.43 PLA2G2D PLA2G2A
10 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.4 PLA2G2D PLA2G2A
11 phosphatidylglycerol metabolic process GO:0046471 9.32 PLA2G2D ABCA3
12 phosphatidylethanolamine metabolic process GO:0046337 9.26 PLA2G2D PLA2G2A
13 respiratory gaseous exchange GO:0007585 9.13 SFTPC SFTPB SFTPA1
14 phosphatidylcholine metabolic process GO:0046470 8.8 PLA2G2D PLA2G2A ABCA3

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 PLA2G2D PLA2G2A
2 phospholipase A2 activity GO:0004623 9.32 PLA2G2D PLA2G2A
3 lipid transporter activity GO:0005319 9.26 SFTPA1 ABCA3
4 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.16 PLA2G2D PLA2G2A
5 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.96 PLA2G2D PLA2G2A
6 calcium-dependent phospholipase A2 activity GO:0047498 8.62 PLA2G2D PLA2G2A

Sources for Surfactant Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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