MCID: RSP019
MIFTS: 45

Respiratory Distress Syndrome in Premature Infants

Categories: Respiratory diseases, Rare diseases

Aliases & Classifications for Respiratory Distress Syndrome in Premature Infants

MalaCards integrated aliases for Respiratory Distress Syndrome in Premature Infants:

Name: Respiratory Distress Syndrome in Premature Infants 53 71 28
Hyaline Membrane Disease 55 71 69
Infant Acute Respiratory Distress Syndrome 55
Neonatal Respiratory Distress Syndrome 55
Respiratory Distress Syndrome, Newborn 69
Infant Respiratory Distress Syndrome 55
Hyaline Membrane Disease, Formerly 53
Rds of Prematurity 53
Rds in Prematurity 71
Infant Ards 55
Rds 71

Characteristics:

Orphanet epidemiological data:

55
infant acute respiratory distress syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
isolated cases
multifactorial

Miscellaneous:
onset at birth
may be associated with polymorphisms in some surfactant genes, including sftpa1 , sftpb , and sftpc


HPO:

31
respiratory distress syndrome in premature infants:
Onset and clinical course congenital onset
Inheritance sporadic multifactorial inheritance


Classifications:

Orphanet: 55  
Rare respiratory diseases


External Ids:

OMIM 53 267450
Orphanet 55 ORPHA70587
UMLS via Orphanet 70 C0020192 C0035220 C0852283
ICD10 via Orphanet 33 P22.0
MedGen 39 C1968593
MeSH 41 D006819
UMLS 69 C0035220

Summaries for Respiratory Distress Syndrome in Premature Infants

OMIM : 53 The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by Ramet et al., 2000; Clark and Clark, 2005). Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (178640) and SFTPC (178620), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, 265120). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1; 178630), SFTPB, and SFTPC (see MOLECULAR GENETICS). (267450)

MalaCards based summary : Respiratory Distress Syndrome in Premature Infants, also known as hyaline membrane disease, is related to newborn respiratory distress syndrome and pneumonia, and has symptoms including respiratory distress, atelectasis and premature birth. An important gene associated with Respiratory Distress Syndrome in Premature Infants is SFTPB (Surfactant Protein B), and among its related pathways/superpathways are Metabolism of proteins and Diseases of metabolism. The drugs Beractant and Carbon monoxide have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotype is respiratory system.

UniProtKB/Swiss-Prot : 71 Respiratory distress syndrome in premature infants: A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high- permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'.

Wikipedia : 72 Infant respiratory distress syndrome (IRDS), also called neonatal respiratory distress syndrome... more...

Related Diseases for Respiratory Distress Syndrome in Premature Infants

Diseases related to Respiratory Distress Syndrome in Premature Infants via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 newborn respiratory distress syndrome 31.9 ABCA3 SFTPB SFTPC
2 pneumonia 28.9 SFTPB SFTPC
3 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.8
4 restrictive dermopathy, lethal 11.6
5 reticular dysgenesis 11.6
6 radin blood group antigen 11.4
7 respiratory distress syndrome, infant 11.3
8 interstitial emphysema 10.1
9 patent ductus arteriosus 1 10.0
10 cocaine antenatal exposure 9.9
11 ring chromosome y syndrome 9.9
12 bronchopulmonary dysplasia 9.9
13 desquamative interstitial pneumonia 9.8 ABCA3 SFTPC
14 diffuse pulmonary fibrosis 9.8 ABCA3 SFTPC
15 pulmonary immaturity 9.8 SFTPB SFTPC
16 diaphragm disease 9.8 SFTPB SFTPC
17 acute respiratory distress syndrome 9.7 SFTPB SFTPC
18 aspiration pneumonia 9.7
19 chorioamnionitis 9.7
20 pneumothorax 9.7
21 neonatal jaundice 9.7
22 streptococcal group a invasive disease 9.7
23 pulmonary alveolar proteinosis 9.7 SFTPB SFTPC
24 diaphragmatic hernia, congenital 9.7 SFTPB SFTPC
25 respiratory failure 9.6 SFTPB SFTPC
26 idiopathic interstitial pneumonia 9.6 SFTPA1 SFTPC
27 pulmonary fibrosis 9.5 SFTPA1 SFTPC
28 neonatal respiratory failure 9.4 ABCA3 SFTPB SFTPC
29 interstitial lung disease 9.4 ABCA3 SFTPB SFTPC
30 lung cancer susceptibility 3 9.4 SFTPB SFTPC
31 surfactant dysfunction 9.0 ABCA3 SFTPA1 SFTPB SFTPC
32 lung disease 9.0 ABCA3 SFTPA1 SFTPB SFTPC
33 pulmonary fibrosis, idiopathic 9.0 ABCA3 SFTPA1 SFTPB SFTPC

Graphical network of the top 20 diseases related to Respiratory Distress Syndrome in Premature Infants:



Diseases related to Respiratory Distress Syndrome in Premature Infants

Symptoms & Phenotypes for Respiratory Distress Syndrome in Premature Infants

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
dyspnea
tachypnea
respiratory insufficiency, neonatal

Prenatal Manifestations Delivery:
premature delivery, less than 37 weeks' gestation

Respiratory Lung:
atelectasis
decreased surfactant
lung edema
fibrin-rich alveolar deposits, 'hyaline membranes'
diffuse reticulogranular pattern seen on chest radiograph


Clinical features from OMIM:

267450

Human phenotypes related to Respiratory Distress Syndrome in Premature Infants:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory distress 31 HP:0002098
2 atelectasis 31 HP:0100750
3 premature birth 31 HP:0001622
4 tachypnea 31 HP:0002789
5 neonatal respiratory distress 31 HP:0002643
6 pulmonary edema 31 HP:0100598
7 disseminated intravascular coagulation 31 HP:0005521

UMLS symptoms related to Respiratory Distress Syndrome in Premature Infants:


respiratory distress, hoarseness, hemoptysis, dyspnea, coughing, cheyne-stokes respiration, apnea

MGI Mouse Phenotypes related to Respiratory Distress Syndrome in Premature Infants:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 ABCA3 SFTPA1 SFTPB SFTPC

Drugs & Therapeutics for Respiratory Distress Syndrome in Premature Infants

Drugs for Respiratory Distress Syndrome in Premature Infants (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Beractant Approved Phase 4 108778-82-1
2
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
3 Poractant alfa Approved Phase 4 129069-19-8
4 Antimetabolites Phase 4
5 Neurotransmitter Agents Phase 4
6 Pulmonary Surfactants Phase 4,Phase 1,Phase 2
7 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
8
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
9
Betamethasone Approved, Vet_approved Phase 2, Phase 3 378-44-9 9782
10 tannic acid Approved, Nutraceutical Phase 2, Phase 3
11 Anti-Asthmatic Agents Phase 2, Phase 3
12 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
13 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
14 Betamethasone benzoate Phase 2, Phase 3
15 Betamethasone sodium phosphate Phase 2, Phase 3
16 Betamethasone Valerate Phase 2, Phase 3 2152-44-5
17 Betamethasone-17,21-dipropionate Phase 2, Phase 3
18 glucocorticoids Phase 2, Phase 3
19 Hormone Antagonists Phase 2, Phase 3
20 Hormones Phase 2, Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
22
Nitric Oxide Approved 10102-43-9 145068
23
Nimodipine Approved, Investigational 66085-59-4 4497
24 Antioxidants
25 Autonomic Agents
26 Bronchodilator Agents
27 Endothelium-Dependent Relaxing Factors
28 Peripheral Nervous System Agents
29 Protective Agents
30 Vasodilator Agents
31 Calamus Nutraceutical
32 Lecithin Nutraceutical

Interventional clinical trials:

(show all 19)

# Name Status NCT ID Phase Drugs
1 Effects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide Completed NCT01923844 Phase 4 exogenous surfactant
2 NIV Strategies for RDS in Preterm Infants. NIV (Non Invasive Ventilation), RDS (Respiratory Distress Syndrome) Completed NCT02259400 Phase 2, Phase 3
3 Does a Rescue Course of Betamethasone in Pregnant Women With PPROM Decrease Neonatal Morbidity? Recruiting NCT02939742 Phase 2, Phase 3 Betamethasone;Placebo
4 Safety, Pk and Anti-inflammatory Effects of CC10 Protein in Premature Infants With Respiratory Distress Syndrome (RDS) Completed NCT01473264 Phase 1, Phase 2 recombinant human CC10 (rhCC10);recombinant human CC10 (rhCC10);placebo
5 Efficacy of Recombinant Human Clara Cell 10 Protein (rhCC10) Administered to Premature Neonates With Respiratory Distress Syndrome Active, not recruiting NCT01941745 Phase 2 Half normal saline;Low Dose rhCC10;High dose rhCC10
6 Feasibility Study of Aerosolized Surfaxin in the Prevention of Respiratory Distress Syndrome (RDS) in Premature Infants Terminated NCT00807235 Phase 2 Aerosolized lucinactant;Aerosolized lucinactant
7 First In Human Study on Synthetic Surfactant CHF 5633 in Respiratory Distress Syndrome Completed NCT01651637 Phase 1 synthetic surfactant (CHF5633)
8 Seattle-PAP Bubble Nasal CPAP and Work of Breathing Completed NCT02210026 Phase 1
9 Study of Respiratory Physiology During High Flow Nasal Cannula Treatment in Preterm Neonates. Unknown status NCT02200900
10 Comparison of Two Nasal Interface for CPAP in Preterm Completed NCT03212508
11 Successful Extubation and Noninvasive Ventilation in Preterm ≤ 1500g Terms Completed NCT02396693
12 Respiratory Pattern During Neurally Adjusted Ventilator Assist (NAVA) in Preterm Infants Completed NCT02770976
13 Inhaled Nitric Oxide (iNO) as an Adjunct to Neonatal Resuscitation Completed NCT01220687 iNO
14 Clinical RD (Respiratory Distress) Score for Objective Decision Making for Surfactant Therapy Completed NCT03273764
15 Effect of Nasal Continuous Positive Airway Pressure on The Pharyngeal Swallow in Neonates Completed NCT02661256
16 The Role of Circuit Flow During Mechanical Ventilation of Neonates Recruiting NCT03306524
17 Safety and Efficacy Study of the Draeger Babylog VN500 Device in HFOV Mode in VLBW Neonates Recruiting NCT02445040
18 Fast Assessment of Surfactant Deficiency to Speed up Treatment Recruiting NCT03235882
19 High Frequency Oscillatory Ventilation Combined With Intermittent Sigh Breaths: Effects on Lung Volume Monitored by Electric Tomography Impedance. Active, not recruiting NCT01962818

Search NIH Clinical Center for Respiratory Distress Syndrome in Premature Infants

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Respiratory Distress Syndrome in Premature Infants

Genetic tests related to Respiratory Distress Syndrome in Premature Infants:

# Genetic test Affiliating Genes
1 Respiratory Distress Syndrome in Premature Infants 28

Anatomical Context for Respiratory Distress Syndrome in Premature Infants

MalaCards organs/tissues related to Respiratory Distress Syndrome in Premature Infants:

38
Lung

Publications for Respiratory Distress Syndrome in Premature Infants

Articles related to Respiratory Distress Syndrome in Premature Infants:

(show all 21)
# Title Authors Year
1
Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants. ( 28352342 )
2017
2
The role of surfactant and non-invasive mechanical ventilation in early management of respiratory distress syndrome in premature infants. ( 25124970 )
2014
3
Early surfactant for respiratory distress syndrome in premature infants. ( 24049954 )
2013
4
Lucinactant for the prevention of respiratory distress syndrome in premature infants. ( 23473590 )
2013
5
Observational study to compare the clinical efficacy of the natural surfactants Alveofact and Curosurf in the treatment of respiratory distress syndrome in premature infants. ( 16698258 )
2007
6
A controlled trial of antepartum glucocorticoid treatment for prevention of the respiratory distress syndrome in premature infants, by G. C. Liggins, MB, PhD, FRCOG, and R. N. Howie, MB, MRACP, Pediatrics, 1972;50:515-525. ( 9651447 )
1998
7
Antenatal ambroxol treatment does not prevent the respiratory distress syndrome in premature infants. ( 9177984 )
1997
8
Prenatal ritodrine administration and the incidence of respiratory distress syndrome in premature infants. ( 9134506 )
1997
9
Synthetic surfactant for rescue treatment of respiratory distress syndrome in premature infants weighing from 700 to 1350 grams: impact on hospital resource use and charges. ( 7815233 )
1995
10
A preliminary report of prenatal cocaine exposure and respiratory distress syndrome in premature infants. ( 2035498 )
1991
11
Exogenous surfactant for treatment of respiratory distress syndrome in premature infants. ( 1973717 )
1990
12
Effects of postnatal aminophylline on the course of respiratory distress syndrome in premature infants. ( 3731212 )
1986
13
The prevention of respiratory distress syndrome in premature infants: efficacy of antenatal aminophylline treatment versus prenatal glucocorticoid administration. ( 6739183 )
1984
14
An analysis of the factors associated with respiratory distress syndrome in premature infants whose mothers had been given dexamethasone therapy. ( 7426540 )
1980
15
Antepartum aminophylline treatment for prevention of the respiratory distress syndrome in premature infants. ( 582496 )
1979
16
Effect of antenatal glucocorticoid administered in a single dose on the incidence of respiratory distress syndrome in premature infants. ( 581109 )
1978
17
Relation of amniotic fluid lecithin/sphingomyelin ratio and fetal asphyxia to respiratory distress syndrome in premature infants. ( 657031 )
1978
18
Patent ductus arteriosus ligation and respiratory distress syndrome in premature infants. ( 973762 )
1976
19
Prevention of the respiratory distress syndrome in premature infants by antepartum glucocorticoid therapy. ( 943175 )
1976
20
Ligation of patent ductus arteriosus for persistent respiratory distress syndrome in premature infants. ( 4843981 )
1974
21
A controlled trial of antepartum glucocorticoid treatment for prevention of the respiratory distress syndrome in premature infants. ( 4561295 )
1972

Variations for Respiratory Distress Syndrome in Premature Infants

ClinVar genetic disease variations for Respiratory Distress Syndrome in Premature Infants:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806

Expression for Respiratory Distress Syndrome in Premature Infants

Search GEO for disease gene expression data for Respiratory Distress Syndrome in Premature Infants.

Pathways for Respiratory Distress Syndrome in Premature Infants

Pathways related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 ABCA3 SFTPA1 SFTPB SFTPC
2
Show member pathways
11.31 SFTPA1 SFTPB SFTPC
3 11.06 SFTPA1 SFTPC
4
Show member pathways
10.56 ABCA3 SFTPA1 SFTPB SFTPC
5
Show member pathways
10.53 SFTPA1 SFTPB SFTPC

GO Terms for Respiratory Distress Syndrome in Premature Infants

Cellular components related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.62 ABCA3 SFTPA1 SFTPB SFTPC
2 endoplasmic reticulum membrane GO:0005789 9.54 SFTPA1 SFTPB SFTPC
3 multivesicular body lumen GO:0097486 9.26 SFTPB SFTPC
4 alveolar lamellar body GO:0097208 9.16 ABCA3 SFTPB
5 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPA1 SFTPB SFTPC
6 lamellar body GO:0042599 8.8 SFTPA1 SFTPB SFTPC

Biological processes related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.16 ABCA3 SFTPA1
2 respiratory gaseous exchange GO:0007585 9.13 SFTPA1 SFTPB SFTPC
3 cellular protein metabolic process GO:0044267 8.92 ABCA3 SFTPA1 SFTPB SFTPC

Molecular functions related to Respiratory Distress Syndrome in Premature Infants according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transporter activity GO:0005319 8.62 ABCA3 SFTPA1

Sources for Respiratory Distress Syndrome in Premature Infants

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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