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 56 73 29
Hyaline Membrane Disease 58 73 54 71
Neonatal Respiratory Distress 29 6
Infant Acute Respiratory Distress Syndrome 58
Neonatal Respiratory Distress Syndrome 58
Respiratory Distress Syndrome, Newborn 71
Infant Respiratory Distress Syndrome 58
Hyaline Membrane Disease, Formerly 56
Rds of Prematurity 56
Rds in Prematurity 73
Infant Ards 58
Rds 73


Orphanet epidemiological data:

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


isolated cases

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


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


Orphanet: 58  
Rare respiratory diseases

External Ids:

OMIM 56 267450
MeSH 43 D006819
ICD10 via Orphanet 33 P22.0
UMLS via Orphanet 72 C0020192 C0035220 C0852283
Orphanet 58 ORPHA70587
MedGen 41 C1968593
UMLS 71 C0020192 C0035220

Summaries for Respiratory Distress Syndrome in Premature Infants

OMIM : 56 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 alveolar proteinosis, and has symptoms including dyspnea, hemoptysis 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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and testes, and related phenotypes are atelectasis and premature birth

UniProtKB/Swiss-Prot : 73 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 : 74 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 461)
# Related Disease Score Top Affiliating Genes
1 adult respiratory distress syndrome 29.7 SFTPC SFTPB
2 pulmonary alveolar proteinosis 29.7 SFTPC SFTPB SFTPA1
3 interstitial emphysema 29.4 SFTPC SFTPB SFTPA1 ABCA3
4 surfactant dysfunction 29.2 SFTPC SFTPB SFTPA1 ABCA3
5 pulmonary immaturity 29.1 SFTPC SFTPB SFTPA1 ABCA3
6 respiratory failure 28.9 SFTPC SFTPB NKX2-1 ABCA3
7 diaphragmatic hernia, congenital 28.5 SFTPC SFTPB NKX2-1 GRP
8 neonatal respiratory failure 28.5 SFTPC SFTPB NKX2-1 ABCA3
9 newborn respiratory distress syndrome 28.0 SFTPC SFTPB SFTPA1 NKX2-1 GRP ABCA3
10 lung disease 27.9 SFTPC SFTPB SFTPA1 NKX2-1 GRP ABCA3
11 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.1
12 restrictive dermopathy, lethal 12.0
13 reticular dysgenesis 12.0
14 respiratory distress syndrome, infant 11.9
15 refsum disease, classic 11.9
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 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.3
24 renal hypodysplasia/aplasia 1 11.2
25 renal hypodysplasia/aplasia 2 11.2
26 retinal degeneration 10.9
27 retinitis pigmentosa 10.8
28 neuroretinitis 10.8
29 retinitis 10.8
30 haemophilus influenzae 10.7
31 rhabdomyosarcoma 10.6
32 bronchopulmonary dysplasia 10.5
33 retinal disease 10.5
34 macular degeneration, age-related, 1 10.4
35 pneumothorax 10.4
36 yemenite deaf-blind hypopigmentation syndrome 10.4
37 pattern dystrophy 10.4
38 fundus dystrophy 10.3
39 inherited retinal disorder 10.3
40 patent ductus arteriosus 1 10.3
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 ischemia 10.2
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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atelectasis 58 31 Frequent (79-30%) HP:0100750
2 premature birth 58 31 Frequent (79-30%) HP:0001622
3 tachypnea 58 31 Frequent (79-30%) HP:0002789
4 pulmonary edema 58 31 Frequent (79-30%) HP:0100598
5 neonatal respiratory distress 31 HP:0002643
6 abnormality of the thorax 58 Frequent (79-30%)
7 sepsis 58 Very rare (<4-1%)
8 respiratory failure 58 Frequent (79-30%)
9 tachycardia 58 Occasional (29-5%)
10 respiratory distress 31 HP:0002098
11 hypoxemia 58 Very frequent (99-80%)
12 pneumonia 58 Occasional (29-5%)
13 hypotension 58 Occasional (29-5%)
14 cyanosis 58 Frequent (79-30%)
15 respiratory tract infection 58 Occasional (29-5%)
16 disseminated intravascular coagulation 31 HP:0005521
17 cardiac arrest 58 Occasional (29-5%)
18 bradycardia 58 Occasional (29-5%)
19 nasal flaring 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

respiratory insufficiency, neonatal

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

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

Clinical features from OMIM:


UMLS symptoms related to Respiratory Distress Syndrome in Premature Infants:

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

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

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ABCA3 BRAF GRP NKX2-1 SFTPB SFTPC
2 cardiovascular system MP:0005385 9.73 ABCA3 BRAF GRP NKX2-1 SFTPC SOD2
3 mortality/aging MP:0010768 9.7 ABCA3 BRAF NKX2-1 SFTPA1 SFTPB SFTPC
4 neoplasm MP:0002006 9.26 BRAF NKX2-1 SFTPC SOD2
5 respiratory system MP:0005388 9.17 ABCA3 BRAF GRP NKX2-1 SFTPA1 SFTPB

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 294)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Racepinephrine Approved Phase 4 329-65-7 838
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Coal tar Approved Phase 4 8007-45-2
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Remifentanil Approved Phase 4 132875-61-7 60815
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
17 Poractant alfa Approved Phase 4 129069-19-8
18 Beractant Approved Phase 4 108778-82-1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
Beta carotene Approved, Nutraceutical Phase 4 7235-40-7
23 Epinephryl borate Phase 4
24 Anesthetics, Inhalation Phase 4
25 BB 1101 Phase 4
26 Excitatory Amino Acid Antagonists Phase 4
27 Anesthetics, Dissociative Phase 4
28 Calciferol Phase 4
29 Angiotensin II Type 1 Receptor Blockers Phase 4
30 Angiotensinogen Phase 4
31 Angiotensin Receptor Antagonists Phase 4
32 Giapreza Phase 4
33 Antihypertensive Agents Phase 4
34 Calcium, Dietary Phase 4
35 Carotenoids Phase 4
Picolinic acid Phase 4 98-98-6 1018
37 Provitamins Phase 4
38 Chelating Agents Phase 4
39 Iron Chelating Agents Phase 4
40 Tin Fluorides Phase 4
Glycopyrrolate Phase 4 596-51-0 3494
42 Anti-Anxiety Agents Phase 4
43 GABA Modulators Phase 4
44 Psychotropic Drugs Phase 4
45 Narcotics Phase 4
46 Mineralocorticoids Phase 4
47 Mineralocorticoid Receptor Antagonists Phase 4
48 diuretics Phase 4
49 Diuretics, Potassium Sparing Phase 4
50 carnitine Phase 4

Interventional clinical trials:

(show top 50) (show all 838)
# 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 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 Unknown status NCT02978976 Phase 4 Betamethasone;saline
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 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
6 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
7 Comparative Trial of Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
8 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
9 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 Assessment of the Cerebral Tissue Oxygenation and the Bioelectrical Brain Activity of Preterm Newborns During Administration of Two Different Surfactant Completed NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
14 Comparison of Effectiveness of Nasal CPAP and Nasal IMV in Early Rescue Surfactant Treatment in Preterm Infants Completed NCT01741129 Phase 4
15 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
16 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
17 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
18 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
19 Corticosteroid Mediates Acute Respiratory Distress Syndrome Via NLRP3 Inflammasome Signaling Pathway Completed NCT02819453 Phase 4 Methylprednisolone
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 Synchronized Intermittent Mandatory Ventilation (SIMV) Versus Nasal Intermittent Positive Pressure Ventilation (NIPPV) In Preterm Infants With Respiratory Distress Completed NCT00486850 Phase 4
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 The Study of Pharmacokinetics and Pharmacodynamics of a Loading Dose Cisatracurium in Critically Ill Patients Completed NCT03337373 Phase 4 cisatracurium
24 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
25 Lipid Ibuprofen Versus Standard of Care for Acute Hypoxemic Respiratory Failure Due to COVID-19: a Multicentre, Randomised, Controlled Trial Recruiting NCT04334629 Phase 4 Ibuprofen
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 Sedation With Sevoflurane Versus Propofol in Patients With Acute Respiratory Distress Syndrome Caused by COVID19 Infection Recruiting NCT04359862 Phase 4 Sevoflurane;Propofol
29 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
30 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
31 Efficacy of Dexamethasone Treatment for Patients With ARDS Caused by COVID-19 Recruiting NCT04325061 Phase 4 Dexamethasone
32 PRAETORIAN-COVID: A Double-blind, Placebo-controlled Randomized Clinical Trial With Valsartan for PRevention of Acute rEspiraTORy dIstress Syndrome in hospitAlized patieNts With SARS-COV-2 (COVID-19) Infection Disease Recruiting NCT04335786 Phase 4 Valsartan (Diovan);Placebo oral tablet
33 Premedication for Less Invasive Surfactant Administration Recruiting NCT03735563 Phase 4 Ketamine;Fentanyl
34 Exogenous Surfactant in Very Preterm Neonates Presenting With Severe Respiratory Distress in Prevention of Bronchopulmonary Dysplasia Active, not recruiting NCT01039285 Phase 4 Curosurf
35 Sleep Intervention During Acute Lung Injury Active, not recruiting NCT01050699 Phase 4 Dexmedetomidine;Midazolam and Fentanyl
36 Comparison of Two Fraction Oxygen Inspired (FiO2) Thresholds for the Surfactant Administration in Preterm Infants With Respiratory Disease Syndrome: a Single-center Randomized Phase IV Clinical Trial Not yet recruiting NCT04199364 Phase 4 Poractant Alfa 80 mg/mL Intratracheal Suspension
37 Stress Assessment in Preterm Infants With Respiratory Distress Syndrome Treated or Not With an Analgesic Drug During the Traditional or the Less Invasive Method of Surfactant Therapy. Not yet recruiting NCT04073173 Phase 4 Analgesic, Opioid
38 The Effect of Spironolactone on Oxygenation in Covid-19 ARDS Patients Not yet recruiting NCT04345887 Phase 4 Spironolactone 100mg;Placebo oral tablet
39 Effects of Positive End-expiratory Pressure With and Without Inspiratory Synchronization During Moderate to Severe ARDS Not yet recruiting NCT04241874 Phase 4
40 Routine Administration of Surfactant/Budesonide to Prevent BPD in VLBW With RDS-A Double Blind Study Not yet recruiting NCT03275415 Phase 4 budesonide;Saline
41 Effects of Adding L‑Carnitine With Dexamethasone on Respiratory Distress Syndrome Development in Preterm Infants Suspended NCT03630367 Phase 4 Dexamethasone;L-Carnitine 1G/5mL Injection
42 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
43 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)
44 Cytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants Terminated NCT00146497 Phase 4 Budesonide-Surfactant
45 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)
46 Pre Hospital Evaluation of Video Laryngoscopy : a Comparative Study of Macintosh and GLIDESCOPE Ranger® Withdrawn NCT01374061 Phase 4
47 Intratracheal Vitamin A Administration With Surfactant for Newborn Respiratory Distress Syndrome Unknown status NCT01265589 Phase 3 surfactant;surfactant+vitamin A
48 Comparison Between Amniotic Fluid Lamellar Body Count and Fetal Pulmonary Artery Doppler Indices in Predicting Fetal Lung Maturity Unknown status NCT02331199 Phase 3
49 A Validation/Interventional Study on Stress Index in Predicting Mechanical Stress in ARDS Patients Unknown status NCT00465374 Phase 3
50 Intranasal Midazolam Versus Intranasal Ketamine to Sedate Newborns for Intubation in Delivery Room. Unknown status NCT01517828 Phase 3 Sedation by ketamine;Sedation with Midazolam

Search NIH Clinical Center for Respiratory Distress Syndrome in Premature Infants

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Albumin Human, USP
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:

Lung, Fetal Lung, Testes, Bone, Heart, Kidney, Brain

Publications for Respiratory Distress Syndrome in Premature Infants

Articles related to Respiratory Distress Syndrome in Premature Infants:

(show top 50) (show all 1729)
# Title Authors PMID Year
The genetics of neonatal respiratory disease. 56
15927881 2005
Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. 56
14735158 2004
Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. 56
12483294 2003
Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome. 56
11063734 2000
Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population. 56
10762543 2000
Surfactant protein A and saturated phosphatidylcholine in respiratory distress syndrome. 56
7952631 1994
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. 56
1741552 1991
Respiratory-distress syndrome and disseminated intravascular coagulation in two siblings. 56
4108940 1972
Recurrent familial neonatal deaths: hereditary surfactant protein B deficiency. 61 54
11041444 2000
Expression of thyroid transcription factor-1(TTF-1) in fetal and neonatal human lung. 54 61
8675988 1996
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. 61 54
8236811 1993
Pulmonary endocrine cells in infancy and childhood. 54 61
2014192 1991
Lipid peroxidation and expression of copper-zinc and manganese superoxide dismutase in lungs of premature infants with hyaline membrane disease and bronchopulmonary dysplasia. 61 54
2230537 1990
Neuroendoscopic lavage for the management of posthemorrhagic hydrocephalus in preterm infants: safety, effectivity, and lessons learned. 61
32413865 2020
Surfactant Protein D Is Associated With Severe Pediatric Acute Respiratory Distress Syndrome, Prolonged Ventilation, and Death in Children With Acute Respiratory Failure. 61
32275979 2020
Extrauterine growth restriction in very preterm infant: etiology, diagnosis, and 2-year follow-up. 61
32193657 2020
Effects of less invasive surfactant administration (LISA) via a gastric tube on the treatment of respiratory distress syndrome in premature infants aged 32 to 36 weeks. 61
32118723 2020
50 Years Ago in TheJournalofPediatrics: Intermittent Positive Pressure Ventilation in Hyaline Membrane Disease. 61
32040408 2020
50 Years Ago in TheJournalofPediatrics: Commentary: The Use of Assisted Ventilation in the Therapy of Hyaline Membrane Disease. 61
32040409 2020
Bovine or Porcine: Does the Type of Surfactant Matter? 61
32112649 2020
Etiology, clinical profile and outcome of neonatal pneumothorax in tertiary care center in South India: 13 years experience. 61
32075452 2020
Risk Factors of Respiratory Diseases Among Neonates in Neonatal Intensive Care Unit of Qena University Hospital, Egypt. 61
32140431 2020
The influence of maternal ethnicity on neonatal respiratory outcome. 61
31123055 2020
Tension pneumocephalus, an uncommon complication of oxygen therapy in preterm newborns. Presentation of a case and literature review. 61
31784352 2019
Fetal, neonatal, and infant death in central China (Hubei): A 16-year retrospective study of forensic autopsy cases. 61
31169678 2019
Outcome of Respiratory Distress in Neonates with Bubble CPAP at Neonatal Intensive Care Unit of a Tertiary Hospital. 61
31477940 2019
Predictors of Neonatal mortality in Neonatal intensive care unit at referral Hospital in Southern Ethiopia: a retrospective cohort study. 61
30819143 2019
Co-initiation of continuous renal replacement therapy, peritoneal dialysis, and extracorporeal membrane oxygenation in neonatal life-threatening hyaline membrane disease: A case report. 61
30681590 2019
Growth restriction increases the risk of bronchopulmonary dysplasia, death, and sepsis in twins of 30 weeks or less of gestation. 61
31095217 2019
Case report of a laryngotracheal reconstruction with anterior and posterior costal cartilage graft and stent placement - Surgical technique. 61
31039513 2019
Survival and predictors among preterm neonates admitted at University of Gondar comprehensive specialized hospital neonatal intensive care unit, Northwest Ethiopia. 61
30616641 2019
Phospholipid components of the synthetic pulmonary surfactant CHF5633 probed by fluorescence spectroscopy. 61
30366070 2018
Hyaline membrane disease (HMD): an historical and Oslerian perspective. 61
30291319 2018
Proportion and factors of death among preterm neonates admitted in University of Gondar comprehensive specialized hospital neonatal intensive care unit, Northwest Ethiopia. 61
30522518 2018
Outcomes of self-induced late pregnancy termination in women presenting to a tertiary hospital in the Eastern Cape Province, South Africa. 61
30645966 2018
An autopsy based descriptive study of the spectrum of pulmonary lesions encountered in fetal deaths at a tertiary care center. 61
30303136 2018
Interventionist versus expectant care for severe pre-eclampsia between 24 and 34 weeks' gestation. 61
30289565 2018
A pre-term infant of 32 weeks gestation with congenital tuberculosis treated successfully with antituberculosis chemotherapy. 61
28805143 2018
Scenario of Neonatal Respiratory Distress in Tertiary Hospital. 61
29983424 2018
A study of spectrum of pulmonary pathology and expression of thyroid transcription factor-1 during neonatal period. 61
30004050 2018
Clinicoetiological Pattern and Outcome of Neonates Requiring Mechanical Ventilation: Study in a Tertiary Care Centre. 61
29910548 2018
Neonatal respiratory distress syndrome and underlying mechanisms in cloned cattle. 61
29388718 2018
Pulmonary atelectasis in newborns with clinically treatable diseases who are on mechanical ventilation: clinical and radiological aspects. 61
29559762 2018
Kidneys in 5-year-old preterm-born children: a longitudinal cohort monitoring of renal function. 61
28665930 2017
[Congenital cytomegalovirus infection manifesting as neonatal respiratory distress in an HIV-exposed uninfected newborn]. 61
28734808 2017
Postoperative complications following neonatal and infant surgery: Common events and predictive factors. 61
27671979 2017
Maternal and neonatal outcomes in twin and triplet gestations in Western Saudi Arabia. 61
28578447 2017
Prevalence of Lung Lesions at Autopsy: A Histopathological Study. 61
28658765 2017
Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants. 61
28352342 2017
Probucol attenuates hyperoxia-induced lung injury in mice. 61
28384256 2017

Variations for Respiratory Distress Syndrome in Premature Infants

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly)SNV Pathogenic/Likely pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
2 ABCC8 NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)SNV Likely pathogenic 35609 rs141322087 11:17426099-17426099 11:17404552-17404552
3 ABCC8 NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)SNV Likely pathogenic 523361 rs1344172059 11:17452385-17452385 11:17430838-17430838
4 SFTPC NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe)SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694
5 ABCA3 NM_001089.3(ABCA3):c.614-2A>GSNV Likely pathogenic 598980 rs773223403 16:2369843-2369843 16:2319842-2319842
6 GJB2 NM_004004.6(GJB2):c.488T>C (p.Met163Thr)SNV Uncertain significance 449488 rs1273330603 13:20763233-20763233 13:20189094-20189094
7 ABCA3 NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu)SNV Uncertain significance 598979 rs1567339065 16:2336773-2336773 16:2286772-2286772
8 DES NM_001927.4(DES):c.407T>A (p.Leu136His)SNV Uncertain significance 44261 rs397516695 2:220283591-220283591 2:219418869-219418869

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
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3 11.06 SFTPC SFTPA1
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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 clathrin-coated endocytic vesicle GO:0045334 9.33 SFTPC SFTPB SFTPA1
3 multivesicular body GO:0005771 9.32 SFTPB SFTPA1
4 multivesicular body lumen GO:0097486 9.26 SFTPC SFTPB
5 lamellar body GO:0042599 9.13 SFTPC SFTPB SFTPA1
6 alveolar lamellar body GO:0097208 8.8 SFTPC SFTPB ABCA3

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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