MCID: RSP019
MIFTS: 44

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 57 75 29
Hyaline Membrane Disease 59 75 73
Infant Acute Respiratory Distress Syndrome 59
Neonatal Respiratory Distress Syndrome 59
Respiratory Distress Syndrome, Newborn 73
Infant Respiratory Distress Syndrome 59
Hyaline Membrane Disease, Formerly 57
Rds of Prematurity 57
Rds in Prematurity 75
Infant Ards 59
Rds 75

Characteristics:

Orphanet epidemiological data:

59
infant acute respiratory distress syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases
multifactorial

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


HPO:

32
respiratory distress syndrome in premature infants:
Onset and clinical course congenital onset
Inheritance sporadic multifactorial inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 267450
Orphanet 59 ORPHA70587
UMLS via Orphanet 74 C0852283 C0020192 C0035220
ICD10 via Orphanet 34 P22.0
MedGen 42 C1968593
MeSH 44 D006819
UMLS 73 C0035220

Summaries for Respiratory Distress Syndrome in Premature Infants

OMIM : 57 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 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, and has symptoms including apnea, cheyne-stokes respiration and coughing. 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 phenotypes are premature birth and respiratory distress

UniProtKB/Swiss-Prot : 75 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 : 76 Infant respiratory distress syndrome (IRDS), also called neonatal respiratory distress syndrome... more...

Related Diseases for Respiratory Distress Syndrome in Premature Infants

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:

57
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 premature birth 32 HP:0001622
2 respiratory distress 32 HP:0002098
3 neonatal respiratory distress 32 HP:0002643
4 tachypnea 32 HP:0002789
5 disseminated intravascular coagulation 32 HP:0005521
6 pulmonary edema 32 HP:0100598
7 atelectasis 32 HP:0100750

UMLS symptoms related to Respiratory Distress Syndrome in Premature Infants:


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

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

46
# 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,Not Applicable
6 Pulmonary Surfactants Phase 4,Phase 1,Phase 2
7 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
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,Not Applicable
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 Not Applicable 10102-43-9 145068 160954
23
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
24 Antioxidants Not Applicable
25 Autonomic Agents Not Applicable
26 Bronchodilator Agents Not Applicable
27 Endothelium-Dependent Relaxing Factors Not Applicable
28 Peripheral Nervous System Agents Not Applicable
29 Protective Agents Not Applicable
30 Vasodilator Agents Not Applicable
31 Calamus Nutraceutical Not Applicable
32 Lecithin Nutraceutical

Interventional clinical trials:

(show all 24)
# 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 Not Applicable
10 Comparison of Two Nasal Interface for CPAP in Preterm Completed NCT03212508
11 Successful Extubation and Noninvasive Ventilation in Preterm ≤ 1500g Terms Completed NCT02396693 Not Applicable
12 Respiratory Pattern During Neurally Adjusted Ventilator Assist (NAVA) in Preterm Infants Completed NCT02770976 Not Applicable
13 Inhaled Nitric Oxide (iNO) as an Adjunct to Neonatal Resuscitation Completed NCT01220687 Not Applicable 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 Not Applicable
16 The Role of Circuit Flow During Mechanical Ventilation of Neonates Recruiting NCT03306524 Not Applicable
17 Effect of Steroid Administration on Maternal Blood Levels of hLPCAT1 mRNA Recruiting NCT03562182
18 Risk Factors of Meconium Obstruction and Respiratory Distress Syndrome in Preterm Infants Recruiting NCT03513640
19 Fast Assessment of Surfactant Deficiency to Speed up Treatment Recruiting NCT03235882
20 Safety and Efficacy Study of the Draeger Babylog VN500 Device in HFOV Mode in VLBW Neonates Active, not recruiting NCT02445040 Not Applicable
21 High Frequency Oscillatory Ventilation Combined With Intermittent Sigh Breaths: Effects on Lung Volume Monitored by Electric Tomography Impedance. Active, not recruiting NCT01962818 Not Applicable
22 Enteral Nutrition Tolerance And REspiratory Support (ENTARES) Not yet recruiting NCT03548324 Not Applicable
23 Nasal High-frequency Jet Ventilation (nHFJV) Following Extubation in Preterm Infants Not yet recruiting NCT03558737 Not Applicable
24 Use of Gentle Synchronized Negative Pressure in Helping Babies Breathe Not yet recruiting NCT03510169 Not Applicable

Search NIH Clinical Center for Respiratory Distress Syndrome in Premature Infants

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29

Anatomical Context for Respiratory Distress Syndrome in Premature Infants

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

41
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
Prevention of the respiratory distress syndrome in premature infants by antepartum glucocorticoid therapy. ( 943175 )
1976
19
Patent ductus arteriosus ligation and respiratory distress syndrome in premature infants. ( 973762 )
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

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
11.3 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 9.67 ABCA3 SFTPA1 SFTPB SFTPC
2 endoplasmic reticulum membrane GO:0005789 9.58 SFTPA1 SFTPB SFTPC
3 multivesicular body GO:0005771 9.32 SFTPA1 SFTPB
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 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....