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Atlas / Disease / Newborn respiratory distress syndrome

Newborn respiratory distress syndrome

disease
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Also known as hyaline membrane diseaseinfant acute respiratory distress syndromeinfant ARDSinfant respiratory distress syndromeneonatal respiratory distressneonatal respiratory distress syndromenewborns (RDS), respiratory distress syndrome OfNRDSRDSRDS - infantsRDS Of newbornsRDS of prematurityRDS, respiratory distress syndrome Of newbornsrespiratory distress syndromerespiratory distress syndrome in premature infantsrespiratory distress syndrome in the newbornrespiratory distress syndrome of newbornrespiratory distress syndrome Of newbornsrespiratory distress syndrome Of newborns (RDS)respiratory distress syndrome, infant

Summary

Newborn respiratory distress syndrome (MONDO:0700081) is a disease with 1 cohort gene (2 GWAS associations across 2 studies) and 333 clinical trials. Top therapeutic interventions include betamethasone, calfactant, and poractant alfa.

At a glance

  • Cohort genes: 1
  • GWAS associations: 2
  • ClinVar variants: 1
  • Clinical trials: 333

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namenewborn respiratory distress syndrome
Mondo IDMONDO:0700081
EFOEFO:1000644
DOIDDOID:12716
ICD-10-CMP22.0
NCITC27560
SNOMED CT46775006
GARD0026349
Is cancer (heuristic)no

Also known as: hyaline membrane disease · infant acute respiratory distress syndrome · infant ARDS · infant respiratory distress syndrome · neonatal respiratory distress · neonatal respiratory distress syndrome · newborns (RDS), respiratory distress syndrome Of · NRDS · RDS · RDS - infants · RDS Of newborns · RDS of prematurity · RDS, respiratory distress syndrome Of newborns · respiratory distress syndrome · respiratory distress syndrome in premature infants · respiratory distress syndrome in the newborn · respiratory distress syndrome of newborn · respiratory distress syndrome Of newborns · respiratory distress syndrome Of newborns (RDS) · respiratory distress syndrome, infant (+1 more)

Data availability: 1 ClinVar variant · 2 GWAS associations (2 studies).

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › interstitial lung disease › interstitial lung disease specific to childhood › primary interstitial lung disease specific to childhood › newborn respiratory distress syndrome

Related subtypes (4): alveolar capillary dysplasia with misalignment of pulmonary veins, congenital chylothorax, lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome, interstitial lung disease specific to infancy

Subtypes (1): respiratory distress syndrome in premature infants

Genetics & variants

GWAS landscape

2 GWAS associations across 2 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr2:2313658077e-08?
rs1135409744e-07CYP2J2?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90651787Liu TY2025526234,368Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90652093Liu TY2025412234,368Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic2

MAF distribution

BucketVariants
common (>=0.05)0
low_freq (0.01-0.05)0
rare (<0.01)0
unknown2

Functional consequences

ConsequenceCount
unknown1
intron_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr2:2313658077e-08Tier 4: intronic/intergenic
rs113540974159911237G>A,Tintron_variantCYP2J24e-07Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
1705936GRCh37/hg19 7q34(chr7:141937588-142716850)x3EPHB6Uncertain significanceno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
EPHB6HGNC:3396ENSG00000106123O15197Ephrin type-B receptor 6clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
EPHB6Ephrin type-B receptor 6Kinase-defective receptor for members of the ephrin-B family.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
EPHB6KinaseyesProt_kinase_dom, EPH_LBD, Ser-Thr/Tyr_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
primary visual cortex1
putamen1
superior frontal gyrus1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
EPHB6134ubiquitousmarkerprimary visual cortex, superior frontal gyrus, putamen

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
EPHB61,729

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
EPHB6O151971

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Ephrin signaling1571.0×0.006EPHB6
EPHB-mediated forward signaling1265.6×0.006EPHB6
EPH-ephrin mediated repulsion of cells1219.6×0.006EPHB6
EPH-Ephrin signaling1165.5×0.006EPHB6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
ephrin receptor signaling pathway1343.9×0.006EPHB6
axon guidance190.6×0.011EPHB6

Therapeutics

Drugs indicated for this disease

4 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
BeractantApproved (phase 4)
CalfactantApproved (phase 4)
Colfosceril PalmitateApproved (phase 4)
Poractant AlfaApproved (phase 4)
Beclomethasone DipropionatePhase 3 (in late-stage trials)
Nitric OxidePhase 3 (in late-stage trials)
PropofolPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Betamethasone, Lucinactant, Sodium Chloride.

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
EPHB6AFATINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
EPHB6504

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
AFATINIB4EPHB6
FEDRATINIB4EPHB6
AXITINIB4EPHB6
SORAFENIB4EPHB6
DASATINIB ANHYDROUS4EPHB6
RUXOLITINIB4EPHB6
NERATINIB4EPHB6
DABRAFENIB4EPHB6
VANDETANIB4EPHB6
NILOTINIB4EPHB6
BOSUTINIB4EPHB6
GILTERITINIB4EPHB6
TOVORAFENIB4EPHB6
PAZOPANIB4EPHB6
NINTEDANIB4EPHB6
SUNITINIB4EPHB6
DASATINIB4EPHB6
ERLOTINIB4EPHB6
QUIZARTINIB4EPHB6
CRIZOTINIB4EPHB6
MIDOSTAURIN4EPHB6
GEFITINIB4EPHB6
SARACATINIB3EPHB6
LINIFANIB3EPHB6
CANERTINIB3EPHB6
TESEVATINIB3EPHB6
BRIVANIB3EPHB6
CEDIRANIB3EPHB6
DOVITINIB3EPHB6
LESTAURTINIB3EPHB6

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
EPHB687Binding:87

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
AFATINIB4EPHB6
FEDRATINIB4EPHB6
AXITINIB4EPHB6
SORAFENIB4EPHB6
DASATINIB ANHYDROUS4EPHB6
RUXOLITINIB4EPHB6
NERATINIB4EPHB6
DABRAFENIB4EPHB6
VANDETANIB4EPHB6
NILOTINIB4EPHB6
BOSUTINIB4EPHB6
GILTERITINIB4EPHB6
TOVORAFENIB4EPHB6
PAZOPANIB4EPHB6
NINTEDANIB4EPHB6
SUNITINIB4EPHB6
DASATINIB4EPHB6
ERLOTINIB4EPHB6
QUIZARTINIB4EPHB6
CRIZOTINIB4EPHB6
MIDOSTAURIN4EPHB6
GEFITINIB4EPHB6
SARACATINIB3EPHB6
LINIFANIB3EPHB6
CANERTINIB3EPHB6
TESEVATINIB3EPHB6
BRIVANIB3EPHB6
CEDIRANIB3EPHB6
DOVITINIB3EPHB6
LESTAURTINIB3EPHB6

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1EPHB6
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 333.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified245
PHASE426
PHASE323
PHASE218
PHASE111
PHASE2/PHASE37
PHASE1/PHASE23

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06074380PHASE4RECRUITINGNon Inferiority Trial Investigating Surfactants Administered Via MIST
NCT06554522PHASE4RECRUITINGPragmatic Evaluation of Respiratory Distress Syndrome Treatment in Africa
NCT07261787PHASE4RECRUITINGDuration of Surfactant Administration and Impact on Stabilisation of Vital Parameters in Very Preterm Neonates: 1 Minutes Versus 5 Minutes
NCT07350018PHASE4RECRUITINGCalfactant vs Poractant Alfa Using a Less Invasive Technique in Preterm Infants With Respiratory Distress Syndrome
NCT00146497PHASE4TERMINATEDCytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants
NCT00277030PHASE4UNKNOWNTwo Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams
NCT00295464PHASE4TERMINATEDAntenatal Rescue Course of Glucocorticoids in Threatened Premature Birth
NCT00368680PHASE4UNKNOWNEarly CPAP in Respiratory Distress Syndrome
NCT00391105PHASE4COMPLETEDRemifentanil Versus Morphine for Sedation of Premature Neonates With Respiratory Distress Syndrome
NCT00767039PHASE4TERMINATEDCurosurf and Survanta Treatment(CAST)of RDS in Very Premature Infants
NCT00797160PHASE4UNKNOWNPropofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS)
NCT00883532PHASE4UNKNOWNPrevention of Chronic Lung Disease (CLD) in Preterm Infants
NCT01374061PHASE4WITHDRAWNPre Hospital Evaluation of Video Laryngoscopy
NCT01749501PHASE4COMPLETEDPremedication for Non-Emergency Endotracheal Intubation In the NICU
NCT01923844PHASE4COMPLETEDEffects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide
NCT02348047PHASE4TERMINATED(S5-SAMU) Randomized Study Comparing the ASV (Adaptative Support Ventilation) to Conventional Ventilation
NCT02887924PHASE4UNKNOWNSLI MANEUVER and RESPIRATORY MORBIDITIES
NCT02978976PHASE4UNKNOWNEffect of Antenatal Steroid on Pulmonary Artery Blood Flow
NCT03275415PHASE4COMPLETEDIntratracheal Budesonide/Surfactant Prevents BPD
NCT03366584PHASE4UNKNOWNThe Effect of β-Carotene, Vitamin D3 and Zinc on Hyaline Membrane Disease and Feeding Intolerance in Premature Neonates
NCT03521063PHASE4UNKNOWNEfficacy of Adding Budesonide to Poractant Alfa to Prevent Bronchopulmonary Dysplasia.
NCT04073173PHASE4UNKNOWNStress Assessment With and Without Analgesia During Surfactant Therapy in Preterm Infants.
NCT04199364PHASE4UNKNOWNMedium vs Low Oxygen Threshold for the Surfactant Administration
NCT04334629PHASE4WITHDRAWNLIBERATE Trial in COVID-19
NCT05714865PHASE4COMPLETEDImplementing LISA Surfactant in Nigeria
NCT05758597PHASE4UNKNOWNSedative Effect and Safety of Remimazolam Besylate in ARDS Patients
NCT04545866PHASE3ACTIVE_NOT_RECRUITINGThe Budesonide in Babies (BiB) Trial
NCT05960929PHASE3RECRUITINGInfasurfAero™ Versus Sham Treatment in Preterm Newborns With RDS
NCT06776783PHASE3RECRUITINGSafety and Efficacy of APC-0101 in Preterm Infants With Respiratory Distress Syndrome
NCT00000563PHASE3COMPLETEDPrevention of Neonatal Respiratory Distress Syndrome With Antenatal Steroid Administration
NCT00000567PHASE3COMPLETEDHigh Frequency Ventilation in Premature Infants (HIFI)
NCT00000570PHASE3COMPLETEDHuman Surfactant Treatment of Respiratory Distress Syndrome Bicenter Trial
NCT00000576PHASE3COMPLETEDInhaled Beclomethasone to Prevent Chronic Lung Disease
NCT00004778PHASE3COMPLETEDPhase III Randomized, Double-Blind, Placebo-Controlled Study of Antenatal Thyrotropin-Releasing Hormone in Pregnant Women With Threatened Premature Delivery
NCT00005774PHASE3TERMINATEDEarly Surfactant to Reduce Use of Mechanical Breathing in Low Birth Weight Infants
NCT00005777PHASE3TERMINATEDMinimal Breathing Support and Early Steroids to Prevent Chronic Lung Disease in Extremely Premature Infants (SAVE)
NCT00016523PHASE3TERMINATEDInhaled Nitric Oxide for Preterm Infants With Severe Respiratory Failure
NCT00356668PHASE3COMPLETEDHumidified High Flow Nasal Cannula as Compared to Nasal Continuous Positive Airway Pressure
NCT00563641PHASE3COMPLETEDVery Early Surfactant and NCPAP for Premature Infants With RDS
NCT00637507PHASE2/PHASE3COMPLETEDStudy of a Novel Technique of Mechanical Ventilation in Patients With Severe Acute Respiratory Failure

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BETAMETHASONE413
CALFACTANT48
PORACTANT ALFA46
BUDESONIDE43
BERACTANT42
CAFFEINE CITRATE42
PROTIRELIN42
BECLOMETHASONE DIPROPIONATE41
BETA CAROTENE41
ILOPROST41
LUCINACTANT41
NITRIC OXIDE41
NITROGEN41
PROPOFOL41
REMIFENTANIL41
RETINOL41
ROCURONIUM41
WATER41
VASOACTIVE INTESTINAL PEPTIDE31
ZINC ION31
BECLOMETHASONE21
CHEMBL24946603
CHEMBL406709001
CHEMBL120127901
BOVACTANT-11

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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This page pulls from 70 datasets indexed by BioBTree:

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