RDS
MCID: RSP019
MIFTS: 58

Respiratory Distress Syndrome in Premature Infants (RDS)

Categories: Rare diseases, Respiratory 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 74 29
Hyaline Membrane Disease 59 74 55 72
Neonatal Respiratory Distress 29 6
Infant Acute Respiratory Distress Syndrome 59
Neonatal Respiratory Distress Syndrome 59
Respiratory Distress Syndrome, Newborn 72
Infant Respiratory Distress Syndrome 59
Hyaline Membrane Disease, Formerly 57
Rds of Prematurity 57
Rds in Prematurity 74
Infant Ards 59
Rds 74

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:
Inheritance multifactorial inheritance sporadic
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 267450
MeSH 44 D006819
ICD10 via Orphanet 34 P22.0
UMLS via Orphanet 73 C0020192 C0035220 C0852283
Orphanet 59 ORPHA70587
MedGen 42 C1968593
UMLS 72 C0020192 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 adult respiratory distress syndrome and pulmonary immaturity, and has symptoms including dyspnea, respiratory distress and apnea. An important gene associated with Respiratory Distress Syndrome in Premature Infants is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are HIV Life Cycle and Diseases of metabolism. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and testes, and related phenotypes are respiratory distress and neonatal respiratory distress

UniProtKB/Swiss-Prot : 74 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 : 75 Infantile respiratory distress syndrome (IRDS), also called respiratory distress syndrome of newborn, or... 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 top 50) (show all 437)
# Related Disease Score Top Affiliating Genes
1 adult respiratory distress syndrome 30.3 SFTPC SFTPB
2 pulmonary immaturity 30.2 SFTPC SFTPB
3 pulmonary alveolar proteinosis 30.2 SFTPC SFTPB
4 acute respiratory distress syndrome 30.2 SFTPC SFTPB
5 respiratory failure 29.7 SFTPC SFTPB NKX2-1
6 newborn respiratory distress syndrome 29.5 SFTPC SFTPB BRAF ABCA3
7 neonatal respiratory failure 29.5 SFTPC SFTPB ABCA3
8 surfactant dysfunction 29.2 SFTPC SFTPB SFTPA1 ABCA3
9 diaphragmatic hernia, congenital 28.8 SFTPC SFTPB NKX2-1 GRP
10 lung disease 28.0 SFTPC SFTPB SFTPA1 NKX2-1 GRP ABCA3
11 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.1
12 reticular dysgenesis 12.0
13 refsum disease, classic 11.9
14 respiratory distress syndrome, infant 11.9
15 restrictive dermopathy, lethal 11.8
16 radin blood group antigen 11.7
17 kartagener syndrome 11.6
18 choroidal dystrophy, central areolar, 1 11.5
19 ciliary dyskinesia, primary, 26 11.4
20 ciliary dyskinesia, primary, 27 11.4
21 ciliary dyskinesia, primary, 9 11.3
22 ciliary dyskinesia, primary, 38 11.3
23 renal hypodysplasia/aplasia 1 11.2
24 renal hypodysplasia/aplasia 2 11.2
25 retinal degeneration 10.9
26 retinitis pigmentosa 10.8
27 neuroretinitis 10.8
28 retinitis 10.8
29 haemophilus influenzae 10.7
30 rhabdomyosarcoma 10.6
31 bronchopulmonary dysplasia 10.5
32 retinal disease 10.5
33 macular degeneration, age-related, 1 10.4
34 pneumothorax 10.4
35 yemenite deaf-blind hypopigmentation syndrome 10.4
36 pattern dystrophy 10.4
37 fundus dystrophy 10.3
38 inherited retinal disorder 10.3
39 patent ductus arteriosus 1 10.3
40 diaphragm disease 10.3 SFTPC SFTPB
41 macular dystrophy, patterned, 1 10.3
42 retinitis pigmentosa 7 10.3
43 butterfly-shaped pigment dystrophy 10.3
44 situs inversus 10.2
45 cerebral artery occlusion 10.2
46 choroidal dystrophy, central areolar 2 10.2
47 alcohol dependence 10.2
48 idiopathic interstitial pneumonia 10.2 SFTPC SFTPA1
49 pre-eclampsia 10.2
50 cone-rod dystrophy 2 10.2

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

Human phenotypes related to Respiratory Distress Syndrome in Premature Infants:

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

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

UMLS symptoms related to Respiratory Distress Syndrome in Premature Infants:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ABCA3 BRAF GRP NKX2-1 SFTPB SFTPC
2 mortality/aging MP:0010768 9.7 ABCA3 BRAF NKX2-1 SFTPA1 SFTPB SFTPC
3 neoplasm MP:0002006 9.26 BRAF NKX2-1 SFTPC SOD2
4 respiratory system MP:0005388 9.1 ABCA3 BRAF NKX2-1 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 top 50) (show all 287)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
5
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
6
Zinc Approved, Investigational Phase 4 7440-66-6 32051
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Caffeine Approved Phase 4 58-08-2 2519
11
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
12
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
13
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
14 Poractant alfa Approved Phase 4 129069-19-8
15 Beractant Approved Phase 4 108778-82-1
16
Budesonide Approved Phase 4 51333-22-3 63006 5281004
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
18
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
19
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
20
Beta carotene Approved, Nutraceutical Phase 4 7235-40-7
21 Epinephryl borate Phase 4
22 BB 1101 Phase 4
23 HIV Protease Inhibitors Phase 4
24
protease inhibitors Phase 4
25 Neuromuscular Nondepolarizing Agents Phase 4
26 Nutrients Phase 4
27 Trace Elements Phase 4
28 Micronutrients Phase 4
29 Vitamins Phase 4
30 Calciferol Phase 4
31 Bone Density Conservation Agents Phase 4
32 carnitine Phase 4
33 Vitamin D2 Phase 4
34 Carotenoids Phase 4
35 Provitamins Phase 4
36
Picolinic acid Phase 4 98-98-6 1018
37 Ergocalciferols Phase 4
38 Hypnotics and Sedatives Phase 4
39 Tranquilizing Agents Phase 4
40 Anti-Anxiety Agents Phase 4
41 GABA Agents Phase 4
42 GABA Modulators Phase 4
43 Psychotropic Drugs Phase 4
44 Adrenergic alpha-2 Receptor Agonists Phase 4
45 Adrenergic alpha-Agonists Phase 4
46 Anesthetics Phase 4
47 Central Nervous System Depressants Phase 4
48 Anesthetics, General Phase 4
49 Anesthetics, Intravenous Phase 4
50 Narcotics Phase 4

Interventional clinical trials:

(show top 50) (show all 682)
# Name Status NCT ID Phase Drugs
1 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
2 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
3 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
4 Efficacy Evaluation of Surfactant Administration for Respiratory Distress Syndrome Treatment Via Laryngeal Mask Airway. A Randomized Controlled Trial Unknown status NCT01173237 Phase 4
5 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
6 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
7 Propofol and Remifentanil Versus Midazolam and Remifentanil as Premedication Allowing Very Early Extubation After Surfactant Treatment in Preterm Neonates With Respiratory Distress Syndrome Unknown status NCT00797160 Phase 4 propofol
8 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
9 THE EFFECT OF SUSTAINED LUNG INFLATION MANEUVER APPLIED THROUGH NASAL PRONG ON EARLY AND LATE RESPIRATORY MORBIDITIES IN PRETERM INFANTS Unknown status NCT02887924 Phase 4
10 Impact of Fluid Resuscitation Therapy on Pulmonary Edema as Measured by Alveolar Fluid Clearance in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01763853 Phase 4 4% albumin
11 An International, Open, Randomized, Controlled Study to Evaluate the Efficacy of Combining Prophylactic Curosurf® With Early Nasal CPAP Versus Early Nasal CPAP Alone in Very Preterm Infants at Risk of Respiratory Distress Syndrome Completed NCT00501982 Phase 4 Poractant alfa (Curosurf®)
12 Effects of Bolus Surfactant Therapy on Serial Peripheral Perfusion Index and Tissue Carbon Monoxide Measurements in Preterm Infants With Severe Respiratory Distress Syndrome Completed NCT01923844 Phase 4 exogenous surfactant
13 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
14 Interest in Programming Caesarean Section at 38 Weeks of Pregnancy With Antenatal Betamethasone to Prevent Neonatal Respiratory Distress and to Avoid Emergency Caesarean Section Before Planned Date. Completed NCT00446953 Phase 4 betamethasone
15 Comparative Study of the Use of Remifentanil Versus Morphine for Sedation and Analgesia of Premature Neonates During Mechanical Ventilation in the Treatment of Respiratory Distress Syndrome (RDS) Completed NCT00391105 Phase 4 Remifentanil
16 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
17 Effect of Early 48-hour Sevoflurane Inhalation on Gas Exchange and Inflammation in Patients Presenting With Acute Respiratory Distress Syndrome (ARDS) : a Monocentric, Prospective, Randomized Study. Completed NCT02166853 Phase 4 sevoflurane;midazolam
18 Corticosteroid Mediates Acute Respiratory Distress Syndrome Via NLRP3 Inflammasome Signaling Pathway Completed NCT02819453 Phase 4 Methylprednisolone
19 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
20 Rescue Surfactant for Respiratory Distress Syndrome (RDS) in Newborns: Comparing Efficacy of Delivery Via Laryngeal Mask Airway to Delivery by Endotracheal Intubation Completed NCT01042600 Phase 4
21 The Study of Pharmacokinetics and Pharmacodynamics of a Loading Dose Cisatracurium in Critically Ill Patients Completed NCT03337373 Phase 4 cisatracurium
22 Effects Of A Recruitment Maneuver On Plasma Levels of sRAGE, The Soluble Form of The Receptor For Advanced Glycation End Products, In Patients With Diffuse Acute Respiratory Distress Syndrome (ARDS) Completed NCT01600651 Phase 4
23 A Comparative, Randomised Controlled Trial for Evaluating the Efficacy of Dexamethasone in the Treatment of Patients With Acute Respiratory Distress Syndrome Completed NCT01731795 Phase 4 Dexamethasone
24 The Effect of Maternal Antenatal Steroid Administration on the Blood Flow Through the Pulmonary Artery in the Term Fetus; a Randomized Control Double Blinded Study Recruiting NCT02978976 Phase 4 Betamethasone;saline
25 Effects of Adding L‑Carnitine With Dexamethasone on Respiratory Distress Syndrome Development in Preterm Infants Recruiting NCT03630367 Phase 4 Dexamethasone;L-Carnitine 1G/5mL Injection
26 Effect of Inhalation Sedation With Sevoflurane Compared With Propofol on the Sepsis-related Acute Respiratory Distress Syndrome (ARDS) Course. Recruiting NCT04014218 Phase 4 Inhalation Sedation;Intravenous Sedation
27 The Effect of Co-administered β-Carotene, Vitamin D3, Zinc and Antenatal Steroid Therapy on Hyaline Membrane Disease and Feeding Intolerance in Premature Neonates Recruiting NCT03366584 Phase 4 Dexamethasone
28 Efficacy of Adding Budesonide to Poractant Alfa to Prevent Bronchopulmonary Dysplasia in Preterm Infants With Respiratory Distress Syndrome. Recruiting NCT03521063 Phase 4 Budesonide;Poractant Alfa;Saline
29 Efficacy of Rescue Surfactant Delivery Via Endotracheal Intubation (INSURE Technique) Versus Laryngeal Mask Airway (LMA) for Respiratory Distress Syndrome (RDS) in Preterm Neonates Recruiting NCT02164734 Phase 4 remifentanil
30 Exogenous Surfactant in Very Preterm Neonates Presenting With Severe Respiratory Distress in Prevention of Bronchopulmonary Dysplasia Active, not recruiting NCT01039285 Phase 4 Curosurf
31 Sleep Intervention During Acute Lung Injury Active, not recruiting NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
32 Premedication for Less Invasive Surfactant Administration Not yet recruiting NCT03735563 Phase 4 Ketamine;Fentanyl
33 Routine Administration of Surfactant/Budesonide to Prevent BPD in VLBW With RDS-A Double Blind Study Not yet recruiting NCT03275415 Phase 4 budesonide;Saline
34 Randomized Study Comparing the ASV to Conventional Ventilation for Intubated Patients During Inter-hospital Transfers. Controlled Randomized Monocentric Prospective Study Comparing ASV Versus Conventional Ventilation Modes Terminated NCT02348047 Phase 4
35 Phase 4 Study of Curosurf (Poractant) and Survanta (Beractant) Surfactant Treatment in Very Premature Infants With Respiratory Distress Syndrome. Terminated NCT00767039 Phase 4 Survanta (beractant);Curosurf (poractant)
36 Cytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants Terminated NCT00146497 Phase 4 Budesonide-Surfactant
37 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
38 Pre Hospital Evaluation of Video Laryngoscopy : a Comparative Study of Macintosh and GLIDESCOPE Ranger® Withdrawn NCT01374061 Phase 4
39 Intratracheal Vitamin A Administration With Surfactant for Newborn Respiratory Distress Syndrome Unknown status NCT01265589 Phase 3 surfactant;surfactant+vitamin A
40 Comparison Between Amniotic Fluid Lamellar Body Count and Fetal Pulmonary Artery Doppler Indices in Predicting Fetal Lung Maturity Unknown status NCT02331199 Phase 3
41 A Validation/Interventional Study on Stress Index in Predicting Mechanical Stress in ARDS Patients Unknown status NCT00465374 Phase 3
42 Paracetamol Versus Ibuprofen for Patent Ductus Arteriosus Closure in Preterm Infants. A Prospective, Randomized, Controlled, Double Blind, Multicenter Clinical Trial. Unknown status NCT02056223 Phase 2, Phase 3 Intravenous paracetamol;Intravenous ibuprofen
43 Intranasal Midazolam Versus Intranasal Ketamine to Sedate Newborns for Intubation in Delivery Room. Unknown status NCT01517828 Phase 3 Sedation by ketamine;Sedation with Midazolam
44 Evaluating the Efficacy and Safety of an Innovative and Affordable Goat Lung Surfactant for the Treatment of Respiratory Distress Syndrome in Preterm Neonates: a Multi-site Randomized Clinical Trial Unknown status NCT02774044 Phase 2, Phase 3 Cadisurf;Survanta
45 Amniotic Fluid Optical Density Determination Between 28 and 36 6/7 Weeks of Pregnancy and Its Relationship With the Diagnosis of Neonatal Respiratory Distress Syndrome. Completed NCT02332304 Phase 3
46 Prevention of Neonatal Respiratory Distress Syndrome With Antenatal Steroid Administration Completed NCT00000563 Phase 3 dexamethasone
47 Efficacy and Safety of Exosurf Neonatal and Survanta for the Treatment of Respiratory Distress Syndrome Completed NCT01203358 Phase 2, Phase 3 Exosurf;Survanta
48 Noninvasive Ventilation Strategies for Early Treatment of RDS in Preterm Infants: An RCT Completed NCT02259400 Phase 2, Phase 3
49 A Randomized Trial of a Lung-Open Ventilation Strategy in Acute Lung Injury Completed NCT00182195 Phase 3
50 Protective Ventilation With Carbon Dioxide (CO2) -Removal Technique in Patients With Adult Respiratory Distress Syndrome (ARDS) Completed NCT00465309 Phase 3

Search NIH Clinical Center for Respiratory Distress Syndrome in Premature Infants

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Albumin Human, USP
ALBUMIN,AGGREGATED
ALBUMIN,EGG
ALBUMIN,HUMAN INJ
ALBUMIN,MICROSPHERE HUMAN SERUM
beractant
Colfosceril
colfosceril palmitate
Nitric Oxide
Poractant alfa

Genetic Tests for Respiratory Distress Syndrome in Premature Infants

Genetic tests related to Respiratory Distress Syndrome in Premature Infants:

# Genetic test Affiliating Genes
1 Neonatal Respiratory Distress 29
2 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, Fetal Lung, Testes, Bone, Heart, Brain, Thyroid

Publications for Respiratory Distress Syndrome in Premature Infants

Articles related to Respiratory Distress Syndrome in Premature Infants:

(show top 50) (show all 1717)
# Title Authors PMID Year
1
Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. 8
14735158 2004
2
Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. 8
12483294 2003
3
Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. 8
11063734 2000
4
Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. 8
10762543 2000
5
Surfactant protein A and saturated phosphatidylcholine in respiratory distress syndrome. 8
7952631 1994
6
Surfactant protein A, phosphatidylcholine, and surfactant inhibitors in epithelial lining fluid. Correlation with surface activity, severity of respiratory distress syndrome, and outcome in small premature infants. 8
1741552 1991
7
Respiratory-distress syndrome and disseminated intravascular coagulation in two siblings. 8
4108940 1972
8
Recurrent familial neonatal deaths: hereditary surfactant protein B deficiency. 9 38
11041444 2000
9
Expression of thyroid transcription factor-1(TTF-1) in fetal and neonatal human lung. 9 38
8675988 1996
10
Immunohistochemical study of copper-zinc and manganese superoxide dismutases in the lungs of human fetuses and newborn infants: developmental profile and alterations in hyaline membrane disease and bronchopulmonary dysplasia. 9 38
8236811 1993
11
Pulmonary endocrine cells in infancy and childhood. 9 38
2014192 1991
12
Lipid peroxidation and expression of copper-zinc and manganese superoxide dismutase in lungs of premature infants with hyaline membrane disease and bronchopulmonary dysplasia. 9 38
2230537 1990
13
Fetal, neonatal, and infant death in central China (Hubei): A 16-year retrospective study of forensic autopsy cases. 38
31169678 2019
14
The influence of maternal ethnicity on neonatal respiratory outcome. 38
31123055 2019
15
Predictors of Neonatal mortality in Neonatal intensive care unit at referral Hospital in Southern Ethiopia: a retrospective cohort study. 38
30819143 2019
16
Survival and predictors among preterm neonates admitted at University of Gondar comprehensive specialized hospital neonatal intensive care unit, Northwest Ethiopia. 38
30616641 2019
17
Co-initiation of continuous renal replacement therapy, peritoneal dialysis, and extracorporeal membrane oxygenation in neonatal life-threatening hyaline membrane disease: A case report. 38
30681590 2019
18
Growth restriction increases the risk of bronchopulmonary dysplasia, death, and sepsis in twins of 30 weeks or less of gestation. 38
31095217 2019
19
Case report of a laryngotracheal reconstruction with anterior and posterior costal cartilage graft and stent placement - Surgical technique. 38
31039513 2019
20
Proportion and factors of death among preterm neonates admitted in University of Gondar comprehensive specialized hospital neonatal intensive care unit, Northwest Ethiopia. 38
30522518 2018
21
Phospholipid components of the synthetic pulmonary surfactant CHF5633 probed by fluorescence spectroscopy. 38
30366070 2018
22
Hyaline membrane disease (HMD): an historical and Oslerian perspective. 38
30291319 2018
23
An autopsy based descriptive study of the spectrum of pulmonary lesions encountered in fetal deaths at a tertiary care center. 38
30303136 2018
24
Interventionist versus expectant care for severe pre-eclampsia between 24 and 34 weeks' gestation. 38
30289565 2018
25
Outcomes of self-induced late pregnancy termination in women presenting to a tertiary hospital in the Eastern Cape Province, South Africa. 38
30645966 2018
26
A pre-term infant of 32 weeks gestation with congenital tuberculosis treated successfully with antituberculosis chemotherapy. 38
28805143 2018
27
A study of spectrum of pulmonary pathology and expression of thyroid transcription factor-1 during neonatal period. 38
30004050 2018
28
Scenario of Neonatal Respiratory Distress in Tertiary Hospital. 38
29983424 2018
29
Clinicoetiological Pattern and Outcome of Neonates Requiring Mechanical Ventilation: Study in a Tertiary Care Centre. 38
29910548 2018
30
Neonatal respiratory distress syndrome and underlying mechanisms in cloned cattle. 38
29388718 2018
31
Pulmonary atelectasis in newborns with clinically treatable diseases who are on mechanical ventilation: clinical and radiological aspects. 38
29559762 2018
32
Kidneys in 5-year-old preterm-born children: a longitudinal cohort monitoring of renal function. 38
28665930 2017
33
[Congenital cytomegalovirus infection manifesting as neonatal respiratory distress in an HIV-exposed uninfected newborn]. 38
28734808 2017
34
Maternal and neonatal outcomes in twin and triplet gestations in Western Saudi Arabia. 38
28578447 2017
35
Postoperative complications following neonatal and infant surgery: Common events and predictive factors. 38
27671979 2017
36
Prevalence of Lung Lesions at Autopsy: A Histopathological Study. 38
28658765 2017
37
Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants. 38
28352342 2017
38
Probucol attenuates hyperoxia-induced lung injury in mice. 38
28384256 2017
39
[Perinatal Outcome in Relation to Chorionicity in Twin Pregnancy]. 38
28501032 2017
40
Neonatal Ureaplasma urealyticum colonization increases pulmonary and cerebral morbidity despite treatment with macrolide antibiotics. 38
26518581 2016
41
Outcome of Twin Deliveries at a Tertiary Care Centre of Eastern Nepal. 38
27885296 2016
42
Neonatal respiratory distress in a reference neonatal unit in Cameroon: an analysis of prevalence, predictors, etiologies and outcomes. 38
27642489 2016
43
Maternal Risk Factors and Outcomes of Umbilical Cord Prolapse: A Population-Based Study. 38
26872752 2016
44
Institution Based Prospective Cross-Sectional Study on Patterns of Neonatal Morbidity at Gondar University Hospital Neonatal Unit, North-West Ethiopia. 38
26949319 2016
45
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 38
26537577 2016
46
Formation of Hyaline Membranes in the Lungs of Albino Rat as a Result of Exposure to Bleomycin During the Neonatal Period. 38
26742747 2016
47
Hospital admission due to respiratory viral infections in moderate preterm, late preterm and term infants during their first year of life. 38
25456533 2015
48
Equipoise in Research and the Development of Neonatal Interventions for the Management of Respiratory Distress Syndrome: A Historical Perspective. 38
25763713 2015
49
Nonintubated Surfactant Application vs Conventional Therapy in Extremely Preterm Infants: A Randomized Clinical Trial. 38
26053341 2015
50
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature. 38
26199800 2015

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 GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 7:140477806-140477806 7:140778006-140778006
2 ABCC8 NM_000352.5(ABCC8): c.3517G> A (p.Val1173Met) single nucleotide variant Likely pathogenic rs141322087 11:17426099-17426099 11:17404552-17404552
3 ABCA3 NM_001089.3(ABCA3): c.614-2A> G single nucleotide variant Likely pathogenic 16:2369843-2369843 16:2319842-2319842
4 ABCC8 NM_000352.5(ABCC8): c.1793G> A (p.Arg598Gln) single nucleotide variant Likely pathogenic rs1344172059 11:17452385-17452385 11:17430838-17430838
5 SFTPC NM_003018.4(SFTPC): c.163C> T (p.Leu55Phe) single nucleotide variant Likely pathogenic 8:22020207-22020207 8:22162694-22162694
6 GJB2 NM_004004.6(GJB2): c.488T> C (p.Met163Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1273330603 13:20763233-20763233 13:20189094-20189094
7 DES NM_001927.4(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 2:220283591-220283591 2:219418869-219418869
8 ABCA3 NM_001089.3(ABCA3): c.3200G> A (p.Gly1067Glu) single nucleotide variant Uncertain significance 16:2336773-2336773 16:2286772-2286772

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
13.09 SOD2 SFTPC SFTPB SFTPA1 BRAF
2
Show member pathways
11.3 SFTPC SFTPB SFTPA1
3 11.06 SFTPC SFTPA1
4
Show member pathways
10.56 SFTPC SFTPB SFTPA1 ABCA3
5
Show member pathways
10.53 SFTPC SFTPB SFTPA1

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 9.77 SFTPC SFTPB SFTPA1 GRP ABCA3
2 multivesicular body GO:0005771 9.32 SFTPB SFTPA1
3 multivesicular body lumen GO:0097486 9.26 SFTPC SFTPB
4 alveolar lamellar body GO:0097208 9.16 SFTPB ABCA3
5 clathrin-coated endocytic vesicle GO:0045334 9.13 SFTPC SFTPB SFTPA1
6 lamellar body GO:0042599 8.8 SFTPC SFTPB SFTPA1

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

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.33 SFTPB NKX2-1 BRAF
2 thyroid gland development GO:0030878 9.26 NKX2-1 BRAF
3 cellular protein metabolic process GO:0044267 9.26 SFTPC SFTPB SFTPA1 ABCA3
4 respiratory gaseous exchange GO:0007585 8.8 SFTPC SFTPB SFTPA1

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 SFTPA1 ABCA3

Sources for Respiratory Distress Syndrome in Premature Infants

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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