Bronchopulmonary dysplasia

disease
On this page

Also known as BPD

Summary

Bronchopulmonary dysplasia (MONDO:0019091) is a disease with 39 cohort genes (38 GWAS associations across 5 studies) and 290 clinical trials. Top therapeutic interventions include sodium chloride, azithromycin, and budesonide.

At a glance

  • Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
  • Cohort genes: 39
  • GWAS associations: 38
  • ClinVar variants: 1
  • Phenotypes (HPO): 27
  • Clinical trials: 290

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Point prevalence1-5 / 10 00013EuropeValidated

Signs & symptoms

Clinical features (HPO)

27 HPO clinical features (Orphanet curated; top 27 by frequency):

HPO IDTermFrequency
HP:0001518Small for gestational ageVery frequent (80-99%)
HP:0001622Premature birthVery frequent (80-99%)
HP:0002088Abnormal lung morphologyVery frequent (80-99%)
HP:0002094DyspneaVery frequent (80-99%)
HP:0002097EmphysemaVery frequent (80-99%)
HP:0002098Respiratory distressVery frequent (80-99%)
HP:0004887Respiratory failure requiring assisted ventilationVery frequent (80-99%)
HP:0006528Chronic lung diseaseVery frequent (80-99%)
HP:0012419HyperoxemiaVery frequent (80-99%)
HP:0012735CoughVery frequent (80-99%)
HP:0001607Subglottic stenosisFrequent (30-79%)
HP:0001667Right ventricular hypertrophyFrequent (30-79%)
HP:0001708Right ventricular failureFrequent (30-79%)
HP:0002360Sleep abnormalityFrequent (30-79%)
HP:0002780BronchomalaciaFrequent (30-79%)
HP:0002795Abnormal respiratory system physiologyFrequent (30-79%)
HP:0002871Central apneaFrequent (30-79%)
HP:0004890Elevated pulmonary artery pressureFrequent (30-79%)
HP:0006536Airway obstructionFrequent (30-79%)
HP:0006597Diaphragmatic paralysisFrequent (30-79%)
HP:0012252Abnormal respiratory system morphologyFrequent (30-79%)
HP:0030828WheezingFrequent (30-79%)
HP:0003546Exercise intoleranceOccasional (5-29%)
HP:0002786TracheobronchomalaciaOccasional (5-29%)
HP:0030878Abnormality on pulmonary function testingOccasional (5-29%)
HP:0100632Pulmonary sequestrationOccasional (5-29%)
HP:0100750AtelectasisOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namebronchopulmonary dysplasia
Mondo IDMONDO:0019091
MeSHD001997
Orphanet70589
DOIDDOID:11650
ICD-111462855296
NCITC90599
SNOMED CT67569000
UMLSC0495402
MedGen1864458
GARD0005962
MedDRA10006475
NORD874
Is cancer (heuristic)no

Also known as: BPD

Data availability: 1 ClinVar variant · 38 GWAS associations (5 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › respiratory system disorderbronchopulmonary dysplasia

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

Genetics & variants

GWAS landscape

38 GWAS associations across 5 studies. Top hits map to 24 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs3722710817e-07MICOS10-NBL1, NBL1?5.88
rs5564931e-06STXBP5A1.35
rs14403061e-06RNU6-119P - TRAM1L1A1.37
rs727914171e-06CTNNA3A1.45
rs6509502e-06PAMR1G1.55
rs46349853e-06PLXDC2A1.54
rs557160843e-06CEP170A1.59
rs99532703e-06CHST9, AQP4-AS1G1.33
rs127012203e-06COX19 - CYP2W1G1.54
rs98773963e-06FHIT?2
rs69883063e-06GRHL2?2.78
rs48839553e-06KLF12?2
rs80161103e-06MDGA2A3.5
rs750550073e-06ABAT?3.85
rs604175713e-06STK32C?4.76
rs789752564e-06RNU4-69P - RPL23AP44G2.44
rs72469674e-06VN1R88P - ZNF728C1.4
rs101930744e-06LINC00276 - Metazoa_SRP?3.85
rs112266135e-06CARD16 - CASP1P1T1.43
rs175515365e-06MIR3681HGG1.47
rs27861895e-06STXBP5C1.47
rs22780345e-06TNK2?1.83
chr12:1310488725e-06?2.56
chr2:549807995e-06?2.5
rs624685776e-06MAGI2G1.54
rs19128166e-06CSMD3 - Y_RNAA1.28
rs14742566e-06ANKRD34C-AS1G1.2
rs716272506e-06ISCA1P1 - HTR1AA1.65
chr2:337770896e-06?3.57
rs48516946e-06LINC01831T4.3

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST006460Torgerson DG20181360Ancestry and Genetic Associations with Bronchopulmonary Dysplasia in Preterm Infants.
GCST002104Wang H20131170A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
GCST004783Mahlman M2017600Genome-wide association study of bronchopulmonary dysplasia: a potential role for variants near the CRP gene.
GCST001197Hadchouel A2011220Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia.
GCST001789Frazier-Wood AC201200Genetic variants associated with VLDL, LDL and HDL particle size differ with race/ethnicity.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic37

MAF distribution

BucketVariants
common (>=0.05)33
low_freq (0.01-0.05)2
rare (<0.01)0
unknown3

Functional consequences

ConsequenceCount
intron_variant26
intergenic_variant8
unknown3
3_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs372271081119647903G>A0.05intron_variantMICOS10-NBL1, NBL17e-07Tier 4: intronic/intergenic
rs5564936147228161A>C,G,T0.46intron_variantSTXBP51e-06Tier 4: intronic/intergenic
rs14403064116954105T>A,C,G0.25intergenic_variantRNU6-119P - TRAM1L11e-06Tier 4: intronic/intergenic
rs727914171065983896A>T0.16intron_variantCTNNA31e-06Tier 4: intronic/intergenic
rs6509501135517721T>A,C,G0.29intron_variantPAMR12e-06Tier 4: intronic/intergenic
rs46349851020145851T>A,C,G0.31intron_variantPLXDC23e-06Tier 4: intronic/intergenic
rs5571608412431273400.13intron_variantCEP1703e-06Tier 4: intronic/intergenic
rs99532701827107407T>C0.31intron_variantCHST9, AQP4-AS13e-06Tier 4: intronic/intergenic
rs127012207983092T>C0.28intron_variantCOX19 - CYP2W13e-06Tier 4: intronic/intergenic
rs9877396361141532T>A,C0.28intron_variantFHIT3e-06Tier 4: intronic/intergenic
rs69883068101583982C>T0.22intron_variantGRHL23e-06Tier 4: intronic/intergenic
rs48839551373859670T>A,C,G0.28intron_variantKLF123e-06Tier 4: intronic/intergenic
rs80161101446990706C>A0.05intron_variantMDGA23e-06Tier 4: intronic/intergenic
rs75055007168740228G>A,T0.05intron_variantABAT3e-06Tier 4: intronic/intergenic
rs6041757110132230648C>T0.05intron_variantSTK32C3e-06Tier 4: intronic/intergenic
rs789752565120880342T>A,C0.02intergenic_variantRNU4-69P - RPL23AP444e-06Tier 4: intronic/intergenic
rs72469671922873544T>C,G0.16intergenic_variantVN1R88P - ZNF7284e-06Tier 4: intronic/intergenic
rs10193074214508784A>G0.05intergenic_variantLINC00276 - Metazoa_SRP4e-06Tier 4: intronic/intergenic
rs1122661311105101791T>A0.17intron_variantCARD16 - CASP1P15e-06Tier 4: intronic/intergenic
rs17551536212112224A>C,G0.13intron_variantMIR3681HG5e-06Tier 4: intronic/intergenic
rs27861896147209945G>A,C,T0.48intron_variantSTXBP55e-06Tier 4: intronic/intergenic
rs22780343195870036T>C,G0.48intron_variantTNK25e-06Tier 4: intronic/intergenic
chr12:1310488725e-06Tier 4: intronic/intergenic
chr2:549807995e-06Tier 4: intronic/intergenic
rs62468577778523355C>G,T0.18intron_variantMAGI26e-06Tier 4: intronic/intergenic
rs19128168113861151A>C,G,T0.38intergenic_variantCSMD3 - Y_RNA6e-06Tier 4: intronic/intergenic
rs14742561579171505C>T0.49intron_variantANKRD34C-AS16e-06Tier 4: intronic/intergenic
rs71627250563088872C>T0.1intergenic_variantISCA1P1 - HTR1A6e-06Tier 4: intronic/intergenic
chr2:337770896e-06Tier 4: intronic/intergenic
rs48516942104419442C>G,T0.05intron_variantLINC018316e-06Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
1339481NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)ITGA3Uncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 16 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

GeneHGNCEvidence routes
CTNNA3CTNNA3GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TRPS1Orphanet:502Trichorhinophalangeal syndrome type 2
TRPS1Orphanet:77258Trichorhinophalangeal syndrome type 1
MAGI2Orphanet:656Hereditary steroid-resistant nephrotic syndrome
TNK2Orphanet:391316Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
ABATOrphanet:2066Gamma-aminobutyric acid transaminase deficiency
CTNNA3Orphanet:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
CTNNA3Orphanet:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
CTNNA3Orphanet:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
GRHL2Orphanet:423454Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
GRHL2Orphanet:90635Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
GRHL2Orphanet:98973Posterior polymorphous corneal dystrophy
DSC3Orphanet:217407Hereditary hypotrichosis with recurrent skin vesicles
FHITOrphanet:422526Hereditary clear cell renal cell carcinoma
HTR1AOrphanet:498251Menstrual cycle-dependent periodic fever
ITGA3Orphanet:306504Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
KLHL3Orphanet:300525Pseudohypoaldosteronism type 2D

Cohort genes → proteins

39 cohort genes, 36 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only38
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SPOCK1HGNC:11251ENSG00000152377Q08629Testican-1gwas
TRPS1HGNC:12340ENSG00000104447Q9UHF7Zinc finger transcription factor Trps1gwas
HIVEP3HGNC:13561ENSG00000127124Q5T1R4Transcription factor HIVEP3gwas
RASGRP3HGNC:14545ENSG00000152689Q8IV61Ras guanyl-releasing protein 3gwas
FTMTHGNC:17345ENSG00000181867Q8N4E7Ferritin, mitochondrialgwas
MAGI2HGNC:18957ENSG00000187391Q86UL8Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2gwas
CSMD3HGNC:19291ENSG00000164796Q7Z407CUB and sushi domain-containing protein 3gwas
TNK2HGNC:19297ENSG00000061938Q07912Activated CDC42 kinase 1gwas
STXBP5HGNC:19665ENSG00000164506Q5T5C0Syntaxin-binding protein 5gwas
MDGA2HGNC:19835ENSG00000139915Q7Z553MAM domain-containing glycosylphosphatidylinositol anchor protein 2gwas
CHST9HGNC:19898ENSG00000154080Q7L1S5Carbohydrate sulfotransferase 9gwas
CYP2W1HGNC:20243ENSG00000073067Q8TAV3Cytochrome P450 2W1gwas
NDST4HGNC:20779ENSG00000138653Q9H3R1Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4gwas
PLXDC2HGNC:21013ENSG00000120594Q6UX71Plexin domain-containing protein 2gwas
STK32CHGNC:21332ENSG00000165752Q86UX6Serine/threonine-protein kinase 32Cgwas
ABATHGNC:23ENSG00000183044P804044-aminobutyrate aminotransferase, mitochondrialgwas
PAMR1HGNC:24554ENSG00000149090Q6UXH9Inactive serine protease PAMR1gwas
CTNNA3HGNC:2511ENSG00000183230Q9UI47Catenin alpha-3gwas
ZNF770HGNC:26061ENSG00000198146Q6IQ21Zinc finger protein 770gwas
GRHL2HGNC:2799ENSG00000083307Q6ISB3Grainyhead-like protein 2 homologgwas
COX19HGNC:28074ENSG00000240230Q49B96Cytochrome c oxidase assembly protein COX19gwas
TRAM1L1HGNC:28371ENSG00000174599Q8N609Translocating chain-associated membrane protein 1-like 1gwas
CEP170HGNC:28920ENSG00000143702Q5SW79Centrosomal protein of 170 kDagwas
PRR16HGNC:29654ENSG00000184838Q569H4Protein Largengwas
RIMBP2HGNC:30339ENSG00000060709O15034RIMS-binding protein 2gwas
DSC3HGNC:3037ENSG00000134762Q14574Desmocollin-3gwas
ZNF728HGNC:32463ENSG00000269067P0DKX0Zinc finger protein 728gwas
ISCA1P1HGNC:33263ENSG00000217416iron-sulfur cluster assembly 1 pseudogene 1gwas
CARD17PHGNC:33827ENSG00000255221Q5XLA6Putative caspase recruitment domain-containing protein 17Pgwas
EML6HGNC:35412ENSG00000214595Q6ZMW3Echinoderm microtubule-associated protein-like 6gwas
FHITHGNC:3701ENSG00000189283P49789Bis(5’-adenosyl)-triphosphatasegwas
YAP1P1HGNC:38016ENSG00000220494YAP1 pseudogene 1gwas
CASP1P1HGNC:43775ENSG00000255430caspase 1 pseudogene 1gwas
HTR1AHGNC:5286ENSG00000178394P089085-hydroxytryptamine receptor 1Agwas
ITGA3HGNC:6139ENSG00000005884P26006Integrin alpha-3clinvar
KLF12HGNC:6346ENSG00000118922Q9Y4X4Krueppel-like factor 12gwas
KLHL3HGNC:6354ENSG00000146021Q9UH77Kelch-like protein 3gwas
NBL1HGNC:7650ENSG00000158747P41271Neuroblastoma suppressor of tumorigenicity 1gwas
RASGRF1HGNC:9875ENSG00000058335Q13972Ras-specific guanine nucleotide-releasing factor 1gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SPOCK1Testican-1May play a role in cell-cell and cell-matrix interactions.
TRPS1Zinc finger transcription factor Trps1Transcriptional repressor.
HIVEP3Transcription factor HIVEP3Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Also binds to the kappa-B motif of gene such as S100A4, involved in c…
RASGRP3Ras guanyl-releasing protein 3Guanine nucleotide exchange factor (GEF) for Ras and Rap1.
FTMTFerritin, mitochondrialCatalyzes the oxidation of ferrous iron(II) to ferric iron(III) and stores iron in a soluble, non-toxic, readily available form.
MAGI2Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins.
CSMD3CUB and sushi domain-containing protein 3Involved in dendrite development.
TNK2Activated CDC42 kinase 1Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation.
STXBP5Syntaxin-binding protein 5Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release.
MDGA2MAM domain-containing glycosylphosphatidylinositol anchor protein 2May be involved in cell-cell interactions.
CHST9Carbohydrate sulfotransferase 9Catalyzes the transfer of sulfate from 3’-phosphoadenylyl sulfate (PAPS) to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans.
CYP2W1Cytochrome P450 2W1A cytochrome P450 monooxygenase that may play a role in retinoid and phospholipid metabolism.
NDST4Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate.
PLXDC2Plexin domain-containing protein 2May play a role in tumor angiogenesis.
ABAT4-aminobutyrate aminotransferase, mitochondrialCatalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively.
PAMR1Inactive serine protease PAMR1May play a role in regeneration of skeletal muscle.
CTNNA3Catenin alpha-3May be involved in formation of stretch-resistant cell-cell adhesion complexes.
ZNF770Zinc finger protein 770May be involved in transcriptional regulation.
GRHL2Grainyhead-like protein 2 homologTranscription factor playing an important role in primary neurulation and in epithelial development.
COX19Cytochrome c oxidase assembly protein COX19Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV).
TRAM1L1Translocating chain-associated membrane protein 1-like 1Stimulatory or required for the translocation of secretory proteins across the ER membrane.
CEP170Centrosomal protein of 170 kDaPlays a role in microtubule organization.
PRR16Protein LargenRegulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways.
RIMBP2RIMS-binding protein 2Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.
DSC3Desmocollin-3A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.
CARD17PPutative caspase recruitment domain-containing protein 17PRegulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation.
EML6Echinoderm microtubule-associated protein-like 6Microtubule-associated protein that plays an important role in the regulation of oocyte meiotic progression by maintaining spindle integrity and facilitating proper chromosome alignment.
FHITBis(5’-adenosyl)-triphosphatasePossesses dinucleoside triphosphate hydrolase activity.
HTR1A5-hydroxytryptamine receptor 1AG-protein coupled receptor for 5-hydroxytryptamine (serotonin).
ITGA3Integrin alpha-3Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4.
KLF12Krueppel-like factor 12Confers strong transcriptional repression to the AP-2-alpha gene.
KLHL3Kelch-like protein 3Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron.
NBL1Neuroblastoma suppressor of tumorigenicity 1Possible candidate as a tumor suppressor gene of neuroblastoma.
RASGRF1Ras-specific guanine nucleotide-releasing factor 1Promotes the exchange of Ras-bound GDP by GTP.

Protein-family classification

Druggable: 12 · Difficult: 9 · Unknown: 18 · Druggable fraction: 0.31

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
Complement16.9×0.496
Antibody/Immunoglobulin32.2×0.496
Kinase32.1×0.496
Scaffold/PPI31.3×0.710
Transcription factor61.3×0.710
Protease10.9×0.850
Enzyme (other)30.9×0.850
GPCR10.6×0.912
Other/Unknown180.8×0.915

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SPOCK1Other/UnknownnoThyroglobulin_1, Kazal_dom, EF-hand-dom_pair
TRPS1Transcription factornoZnf_GATA, Znf_C2H2_type, Znf_NHR/GATA
HIVEP3Transcription factornoZnf_C2H2_type, Znf_CCHC_HIVEP, Znf_C2H2_sf
RASGRP3Other/UnknownnoRas-like_Gua-exchang_fac_N, RASGEF_cat_dom, EF_hand_dom
FTMTOther/UnknownnoFerritin, Ferritin_DPS_dom, Ferritin-like_diiron
MAGI2KinaseyesWW_dom, PDZ, Guanylate_kin-like_dom
CSMD3ComplementyesSushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
TNK2Kinaseyes2.7.10.2Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, SH3_domain
STXBP5Scaffold/PPInoLethal2_giant, WD40_rpt, LLGL2
MDGA2Antibody/ImmunoglobulinyesMAM_dom, Ig_sub2, Ig_sub
CHST9Other/UnknownnoSulfotransferase, Carb_sulfotrans_8-10
CYP2W1Other/UnknownnoCyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
NDST4Enzyme (other)yes2.8.2.8Sulfotransferase_dom, Heparan_SO4_deacetylase_dom, P-loop_NTPase
PLXDC2Other/UnknownnoPlexin_repeat, PSI, PLXDC
STK32CKinaseyesProt_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
ABATEnzyme (other)yes2.6.1.194NH2But_aminotransferase_euk, Aminotrans_3, PyrdxlP-dep_Trfase_major
PAMR1ProteaseyesSushi_SCR_CCP_dom, EGF, CUB_dom
CTNNA3Other/UnknownnoAlpha_catenin, Vinculin/catenin, Alpha-catenin/vinculin-like_sf
ZNF770Transcription factornoZnf_C2H2_type, Znf_C2H2_sf
GRHL2Transcription factornoCP2, TF_CP2-like, GRHL1/CP2_C
COX19Other/UnknownnoCys_alpha_HP_mot_SF, CHCH, COX19
TRAM1L1Other/UnknownnoTLC-dom, Translocation_assoc_membrane
CEP170Other/UnknownnoFHA_dom, SMAD_FHA_dom_sf, CEP170_C
PRR16Other/UnknownnoLargen/INSYN1
RIMBP2Antibody/ImmunoglobulinyesSH3_domain, FN3_dom, Ig-like_fold
DSC3Other/UnknownnoCadherin_Y-type_LIR, Cadherin-like_dom, Desmosomal_cadherin
ZNF728Transcription factornoKRAB, Znf_C2H2_type, KRAB_dom_sf
ISCA1P1Other/Unknownno
CARD17POther/UnknownnoCARD, Pept_C14, DEATH-like_dom_sf
EML6Scaffold/PPInoWD40_rpt, HELP, Quinoprotein_ADH-like_sf
FHITEnzyme (other)yes3.6.1.29HIT-like, Histidine_triad_CS, HIT-like_sf
YAP1P1Other/Unknownno
CASP1P1Other/Unknownno
HTR1AGPCRyesGPCR_Rhodpsn, 5HT1A_rcpt, 5HT_rcpt
ITGA3Antibody/ImmunoglobulinyesIntegrin_alpha, FG-GAP, Int_alpha_beta-p
KLF12Transcription factornoZnf_C2H2_type, Znf_C2H2_sf
KLHL3Other/UnknownnoBTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
NBL1Other/UnknownnoDAN_dom, Cys_knot_C, Neuroblast_suppress_tumour_1
RASGRF1Scaffold/PPInoDH_dom, Ras-like_Gua-exchang_fac_N, GDS_CDC24_CS

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)1
broad (>20)38
unknown0

Top tissues across cohort

TissueCohort genes
Brodmann (1909) area 236
primordial germ cell in gonad5
male germ line stem cell (sensu Vertebrata) in testis5
middle temporal gyrus5
stromal cell of endometrium4
calcaneal tendon4
buccal mucosa cell4
corpus callosum4
endothelial cell3
left testis3
right hemisphere of cerebellum3
cortical plate3
decidua2
C1 segment of cervical spinal cord2
testis2
cerebellar hemisphere2
right adrenal gland2
right adrenal gland cortex2
tendon of biceps brachii2
right testis2

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SPOCK1273ubiquitousmarkerstromal cell of endometrium, lateral nuclear group of thalamus, decidua
TRPS1284ubiquitousmarkermammary duct, epithelium of mammary gland, calcaneal tendon
HIVEP3234ubiquitousmarkerbuccal mucosa cell, endothelial cell, Brodmann (1909) area 23
RASGRP3255ubiquitousmarkercorpus callosum, inferior vagus X ganglion, C1 segment of cervical spinal cord
FTMT16tissue_specificyesprimordial germ cell in gonad, left testis, testis
MAGI2267ubiquitousmarkercalcaneal tendon, corpus callosum, Brodmann (1909) area 23
CSMD3129broadmarkermiddle temporal gyrus, Brodmann (1909) area 23, male germ line stem cell (sensu Vertebrata) in testis
TNK2276ubiquitousmarkerright hemisphere of cerebellum, right frontal lobe, cerebellar hemisphere
STXBP5244ubiquitousmarkeradrenal tissue, Brodmann (1909) area 23, calcaneal tendon
MDGA285broadmarkercortical plate, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
CHST9139broadmarkerbronchial epithelial cell, bronchus, olfactory segment of nasal mucosa
CYP2W1147tissue_specificmarkerbuccal mucosa cell, right adrenal gland cortex, right adrenal gland
NDST465tissue_specificmarkerpalpebral conjunctiva, pons, male germ line stem cell (sensu Vertebrata) in testis
PLXDC2279ubiquitousmarkercalcaneal tendon, tendon of biceps brachii, tendon
STK32C198ubiquitousmarkerright testis, left testis, anterior cingulate cortex
ABAT289ubiquitousmarkerBrodmann (1909) area 23, endothelial cell, middle temporal gyrus
PAMR1237broadmarkerdecidua, stromal cell of endometrium, tibia
CTNNA3211broadmarkercorpus callosum, heart right ventricle, medial globus pallidus
ZNF770255ubiquitousmarkerupper arm skin, corpus epididymis, gingival epithelium
GRHL2200broadmarkerbuccal mucosa cell, oviduct epithelium, cervix squamous epithelium
COX19217ubiquitousmarkertendon of biceps brachii, vena cava, buccal mucosa cell
TRAM1L1210broadyesendothelial cell, upper arm skin, epithelial cell of pancreas
CEP170134ubiquitousmarkercortical plate, ganglionic eminence, corpus callosum
PRR16205ubiquitousmarkerstromal cell of endometrium, descending thoracic aorta, oocyte
RIMBP2201broadmarkerBrodmann (1909) area 10, frontal pole, pituitary gland
DSC3177broadmarkerupper leg skin, gingival epithelium, gingiva
ZNF728117broadyesmale germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, testis
ISCA1P1115markerright testis, primordial germ cell in gonad, left testis
CARD17P89tissue_specificyesprimordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, monocyte
EML6217broadmarkermiddle temporal gyrus, right hemisphere of cerebellum, Brodmann (1909) area 23

Protein interactions among cohort

Intra-cohort edges: 3.

Hub genes (top 10 by interactor count)

SymbolInteractor count
MAGI23,246
TRPS12,588
CEP1702,543
RASGRF12,337
CTNNA32,306
ITGA32,079
HTR1A1,946
ABAT1,711
FHIT1,690
EML61,689

Intra-cohort edges

ABSources
CSMD3TRPS1string_interaction
MAGI2PRR16intact
NDST4TRAM1L1string_interaction

Structural data

PDB: 10 · AlphaFold-only: 26 · No structure: 3

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HTR1AP0890830
FTMTQ8N4E724
TNK2Q0791218
FHITP497899
MAGI2Q86UL85
RIMBP2O150344
KLHL3Q9UH773
NBL1P412712
GRHL2Q6ISB31
CEP170Q5SW791

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ABATP8040493.91
CYP2W1Q8TAV392.79
NDST4Q9H3R191.22
EML6Q6ZMW387.42
MDGA2Q7Z55384.96
ITGA3P2600683.88
CTNNA3Q9UI4781.65
CARD17PQ5XLA681.44
COX19Q49B9681.23
TRAM1L1Q8N60980.64
STK32CQ86UX679.95
STXBP5Q5T5C078.93
CHST9Q7L1S578.39
PAMR1Q6UXH977.31
DSC3Q1457475.53
RASGRF1Q1397272.89
RASGRP3Q8IV6170.51
PLXDC2Q6UX7169.80
ZNF728P0DKX069.18
SPOCK1Q0862963.80
PRR16Q569H463.69
ZNF770Q6IQ2155.24
KLF12Q9Y4X451.57
TRPS1Q9UHF749.12
HIVEP3Q5T1R437.25
CSMD3Q7Z407

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 46. Enrichment computed across 39 evidence-associated genes (17 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 17 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Degradation of GABA1335.9×0.116ABAT
Activation of RAS in B cells1134.3×0.116RASGRP3
Miscellaneous substrates156.0×0.116CYP2W1
Serotonin receptors156.0×0.116HTR1A
Signaling by LTK151.7×0.116TNK2
MET promotes cell motility135.4×0.116ITGA3
Ras activation upon Ca2+ influx through NMDA receptor133.6×0.116RASGRF1
Heparan sulfate/heparin (HS-GAG) metabolism132.0×0.116NDST4
CS-GAG biosynthesis132.0×0.116CHST9
Xenobiotics129.2×0.116CYP2W1
Nephrin family interactions128.0×0.116MAGI2
Basigin interactions125.8×0.116ITGA3
Laminin interactions122.4×0.116ITGA3
MET activates PTK2 signaling122.4×0.116ITGA3
HS-GAG biosynthesis120.4×0.116NDST4
Amine ligand-binding receptors120.4×0.116HTR1A
Iron uptake and transport120.4×0.116FTMT
RAF/MAP kinase cascade27.2×0.116RASGRP3, RASGRF1
Signaling by Receptor Tyrosine Kinases26.1×0.116TNK2, ITGA3
Signaling by MET118.7×0.120ITGA3
Complex IV assembly113.4×0.156COX19
Glycosaminoglycan metabolism112.9×0.156NDST4
Regulation of RUNX2 expression and activity110.7×0.178HIVEP3
Mitochondrial protein import19.9×0.178COX19
Post-translational modification: synthesis of GPI-anchored proteins19.9×0.178MDGA2
Cell-Cell communication18.1×0.203MAGI2
Integrin cell surface interactions17.9×0.203ITGA3
Metabolism of carbohydrates and carbohydrate derivatives17.1×0.218NDST4
Cell surface interactions at the vascular wall15.6×0.261ITGA3
Formation of the cornified envelope15.2×0.271DSC3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 32 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
exploration behavior360.8×0.003ABAT, HTR1A, ITGA3
diadenosine triphosphate catabolic process1526.6×0.059FHIT
epithelium migration1526.6×0.059GRHL2
copulation1263.3×0.059ABAT
obsolete GABA metabolic process1263.3×0.059ABAT
GABA catabolic process1263.3×0.059ABAT
negative regulation of gamma-aminobutyric acid secretion1263.3×0.059ABAT
regulation of serotonin secretion1263.3×0.059HTR1A
distal tubule morphogenesis1263.3×0.059KLHL3
positive regulation of prolactin secretion1263.3×0.059ABAT
positive regulation of aspartate secretion1263.3×0.059ABAT
purine nucleotide metabolic process1175.5×0.059FHIT
negative regulation of cell projection organization1175.5×0.059ITGA3
response to gonadotropin1175.5×0.059ITGA3
obsolete sequestering of BMP from receptor via BMP binding1175.5×0.059NBL1
epithelial cell morphogenesis involved in placental branching1175.5×0.059GRHL2
renal filtration1175.5×0.059ITGA3
cell-cell adhesion39.5×0.059CTNNA3, DSC3, ITGA3
nervous system development45.7×0.059SPOCK1, MAGI2, MDGA2, NBL1
negative regulation of dopamine secretion1131.7×0.062ABAT
obsolete sequestering of BMP in extracellular matrix1131.7×0.062NBL1
positive regulation of dopamine metabolic process1131.7×0.062ABAT
regulation of hormone secretion1131.7×0.062HTR1A
anterior neural tube closure1131.7×0.062GRHL2
positive regulation of heat generation1105.3×0.066ABAT
retinoic acid catabolic process1105.3×0.066CYP2W1
determination of dorsal identity1105.3×0.066NBL1
cytochrome metabolic process1105.3×0.066CYP2W1
negative regulation of monocyte chemotaxis187.8×0.070NBL1
positive regulation of inhibitory postsynaptic potential187.8×0.070ABAT

Therapeutics

Drugs indicated for this disease

1 approved, 12 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
PalivizumabApproved (phase 4)
Autologous Cord BloodPhase 3 (in late-stage trials)
AzithromycinPhase 3 (in late-stage trials)
Beclomethasone DipropionatePhase 3 (in late-stage trials)
BudesonidePhase 3 (in late-stage trials)
CaffeinePhase 3 (in late-stage trials)
CalfactantPhase 3 (in late-stage trials)
ClarithromycinPhase 3 (in late-stage trials)
DexamethasonePhase 3 (in late-stage trials)
HydrocortisonePhase 3 (in late-stage trials)
MethylprednisolonePhase 3 (in late-stage trials)
Nitric OxidePhase 3 (in late-stage trials)
Sodium ChloridePhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Furosemide, Ibuprofen, Sildenafil.

Drug target analysis

Approved (phase 4): 3 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 33

Druggability breadth: 11 of 39 evidence-associated genes (28%) 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
TNK2VEMURAFENIB
CYP2W1PAZOPANIB
HTR1AIMIPRAMINE

Top cohort targets by molecule count

SymbolMoleculesMax phase
HTR1A4014
TNK2514
RASGRP312
CYP2W114
STK32C13
FHIT13
SPOCK100
TRPS100
HIVEP300
FTMT00

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
VEMURAFENIB4TNK2
FEDRATINIB4TNK2
AXITINIB4TNK2
RUXOLITINIB4TNK2
NERATINIB4TNK2
ENTRECTINIB4TNK2
PACRITINIB4TNK2
TOFACITINIB4TNK2
CERITINIB4TNK2
BOSUTINIB4HTR1A, TNK2
LORLATINIB4HTR1A, TNK2
GILTERITINIB4TNK2
OSIMERTINIB4HTR1A, TNK2
UPADACITINIB4TNK2
LAROTRECTINIB4TNK2
PAZOPANIB4CYP2W1, TNK2
NINTEDANIB4TNK2
SUNITINIB4HTR1A, TNK2
DASATINIB4HTR1A, TNK2
CRIZOTINIB4TNK2
MIDOSTAURIN4TNK2
GEFITINIB4TNK2
IMIPRAMINE4HTR1A
CANDESARTAN CILEXETIL4HTR1A
BEXAROTENE4HTR1A
METHYSERGIDE4HTR1A
GLIPIZIDE4HTR1A
MORICIZINE4HTR1A
ACETOPHENAZINE4HTR1A
MESORIDAZINE4HTR1A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

SymbolAssaysType breakdown
HTR1A1,750Binding:1235, Functional:504, ADMET:10, Toxicity:1
TNK2348Binding:346, Functional:2
CYP2W1184ADMET:182, Binding:2
STK32C148Binding:148
ABAT41Binding:41
FHIT21Binding:19, ADMET:2
RASGRP320Binding:20
ITGA35Binding:5
KLHL33Binding:3
RASGRF13Binding:3
CEP1701Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
TNK22.7.10.2non-specific protein-tyrosine kinase
NDST42.8.2.8[heparan sulfate]-glucosamine N-sulfotransferase
ABAT2.6.1.194-aminobutyrate-2-oxoglutarate transaminase
FHIT3.6.1.29bis(5’-adenosyl)-triphosphatase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
TNK2348
CYP2W1184
STK32C148
HTR1A1,750

Pharmacogenomics

Cohort genes with a PharmGKB record: 37; 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)
VEMURAFENIB4TNK2
FEDRATINIB4TNK2
AXITINIB4TNK2
RUXOLITINIB4TNK2
NERATINIB4TNK2
ENTRECTINIB4TNK2
PACRITINIB4TNK2
TOFACITINIB4TNK2
CERITINIB4TNK2
BOSUTINIB4HTR1A, TNK2
LORLATINIB4HTR1A, TNK2
GILTERITINIB4TNK2
OSIMERTINIB4HTR1A, TNK2
UPADACITINIB4TNK2
LAROTRECTINIB4TNK2
PAZOPANIB4CYP2W1, TNK2
NINTEDANIB4TNK2
SUNITINIB4HTR1A, TNK2
DASATINIB4HTR1A, TNK2
CRIZOTINIB4TNK2
MIDOSTAURIN4TNK2
GEFITINIB4TNK2
IMIPRAMINE4HTR1A
CANDESARTAN CILEXETIL4HTR1A
BEXAROTENE4HTR1A
METHYSERGIDE4HTR1A
GLIPIZIDE4HTR1A
MORICIZINE4HTR1A
ACETOPHENAZINE4HTR1A
MESORIDAZINE4HTR1A

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)3TNK2, CYP2W1, HTR1A
BPhased (≥1) drug, not yet approved3RASGRP3, STK32C, FHIT
CDruggable family + PDB, no drug2MAGI2, RIMBP2
DDruggable family + AlphaFold only, no drug6CSMD3, MDGA2, NDST4, ABAT, PAMR1, ITGA3
EDifficult family or no structure, no drug25SPOCK1, TRPS1, HIVEP3, FTMT, STXBP5, CHST9, PLXDC2, CTNNA3, ZNF770, GRHL2 (+15 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
SPOCK10
TRPS10
HIVEP30
FTMT0
MAGI20
CSMD30
STXBP50
MDGA20
CHST90
NDST40
PLXDC20
ABAT41
PAMR10
CTNNA30
ZNF7700
GRHL20
COX190
TRAM1L10
CEP1701
PRR160
RIMBP20
DSC30
ZNF7280
ISCA1P10
CARD17P0
EML60
YAP1P10
CASP1P10
ITGA35
KLF120

Clinical trials & evidence

Clinical trials

Clinical trials: 290.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified165
PHASE233
PHASE331
PHASE124
PHASE1/PHASE213
PHASE412
PHASE2/PHASE39
EARLY_PHASE13

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00926276PHASE4COMPLETEDThe Role of Anti-Reflux Surgery for Gastroesophageal Reflux Disease in Premature Infants With Bronchopulmonary Dysplasia
NCT01039285PHASE4COMPLETEDExogenous Surfactant in Very Preterm Neonates in Prevention of Bronchopulmonary Dysplasia
NCT01329432PHASE4UNKNOWNSurfactant Administration During Spontaneous Breathing
NCT02140580PHASE4UNKNOWNOPTIMIST-A Trial: Minimally-invasive Surfactant Therapy in Preterm Infants 25-28 Weeks Gestation on CPAP
NCT02447250PHASE4COMPLETEDPreterm Infant Inhaled Albuterol Dosing
NCT03275415PHASE4COMPLETEDIntratracheal Budesonide/Surfactant Prevents BPD
NCT03485703PHASE4COMPLETEDAzithromycin in the Prevention of Lung Injury in Premature Newborn
NCT03521063PHASE4UNKNOWNEfficacy of Adding Budesonide to Poractant Alfa to Prevent Bronchopulmonary Dysplasia.
NCT04050488PHASE4UNKNOWNZinc Supplementation on Very Low Birth Weight Infant
NCT05311228PHASE4COMPLETEDThe Efect of Azithromicyn on Bronchopulmonary Displasia in Extremely Preterm and Very Preterm Infant
NCT05898022PHASE4COMPLETEDPragmatic Research on Diuretic Management in Early BPD Pilot
NCT06584474PHASE4COMPLETEDTHE EFFECT OF NEBULIZED AZITHROMYCIN AS THERAPY FOR BRONCHOPULMONARY DYSPLASIA
NCT02371460PHASE3ACTIVE_NOT_RECRUITINGMaternal Omega-3 Supplementation to Reduce Bronchopulmonary Dysplasia
NCT04545866PHASE3ACTIVE_NOT_RECRUITINGThe Budesonide in Babies (BiB) Trial
NCT06409299PHASE3NOT_YET_RECRUITINGEnhancing Lung Health in Kids With Structural Lung Damage and Malformations: Azithromycin (AZI) for Airway Infection Prevention
NCT06897839PHASE2/PHASE3RECRUITINGEfficacy and Safety of Zelpultide Alfa in Preterm Neonates at High Risk of Developing Bronchopulmonary Dysplasia (BPD)
NCT07052201PHASE3NOT_YET_RECRUITINGDexamethasone Regimens for BPD Prevention in Preterm Infants
NCT00000548PHASE3COMPLETEDInhaled NO in Prevention of Chronic Lung Disease
NCT00000567PHASE3COMPLETEDHigh Frequency Ventilation in Premature Infants (HIFI)
NCT00000576PHASE3COMPLETEDInhaled Beclomethasone to Prevent Chronic Lung Disease
NCT00004785PHASE3COMPLETEDPhase III Randomized, Double-Blind Study of Dexamethasone Vs Dexamethasone/Methylprednisolone Vs Placebo for Bronchopulmonary Dysplasia
NCT00005777PHASE3TERMINATEDMinimal Breathing Support and Early Steroids to Prevent Chronic Lung Disease in Extremely Premature Infants (SAVE)
NCT00006401PHASE3COMPLETEDInhaled Nitric Oxide for Preventing Chronic Lung Disease in Premature Infants
NCT00011362PHASE3COMPLETEDDexamethasone Therapy in VLBW Infants at Risk of CLD
NCT00156572PHASE3TERMINATEDManagement of Hyponatremia in Preterm Infants on Diuretics
NCT00188968PHASE3COMPLETEDRandomized Trial of Nasal Continuous Positive Airway Pressure or Synchronized Nasal Ventilation in Premature Infants.
NCT00233324PHASE3COMPLETEDSurfactant Positive Airway Pressure and Pulse Oximetry Trial
NCT00254176PHASE2/PHASE3UNKNOWNCysteine Supplementation in Critically Ill Neonates
NCT00303082PHASE3TERMINATEDProbiotics for the Prevention of Premature Birth and Neonatal Related Morbidity
NCT00314431PHASE3COMPLETEDPost-hospitalization Nursing Effectiveness (PHONE) Study
NCT00515281PHASE2/PHASE3TERMINATEDInhaled Nitric Oxide and Neuroprotection in Premature Infants
NCT00569530PHASE3COMPLETEDTrial of Late Surfactant to Prevent BPD: A Pilot Study in Ventilated Preterm Neonates Receiving Inhaled Nitric Oxide
NCT00623740PHASE3COMPLETEDPREMILOC Trial to Prevent Bronchopulmonary Dysplasia in Very Preterm Neonates
NCT00931632PHASE3COMPLETEDInhaled Nitric Oxide (INO) for the Prevention of Bronchopulmonary Dysplasia (BPD) in Preterm Infants
NCT01006629PHASE2/PHASE3COMPLETEDPalivizumab for Prevention of Severe Respiratory Syncytial Virus Infection in Russian Children
NCT01022580PHASE3COMPLETEDTrial of Late Surfactant for Prevention of Bronchopulmonary Dysplasia
NCT01035190PHASE3COMPLETEDEfficacy and Safety of Inhaled Budesonide in Very Preterm Infants at Risk for Bronchopulmonary Dysplasia
NCT01203358PHASE2/PHASE3COMPLETEDExosurf Neonatal and Survanta for Treatment of Respiratory Distress Syndrome
NCT01353313PHASE3COMPLETEDHydrocortisone for BPD
NCT01600430PHASE2/PHASE3COMPLETEDVitamin D Supplementation for Extremely Preterm Infants

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
SODIUM CHLORIDE410
AZITHROMYCIN42
BUDESONIDE42
CAFFEINE42
CALFACTANT42
HYDROCORTISONE42
PORACTANT ALFA42
RETINOL42
ZINC ACETATE ANHYDROUS42
ALBUTEROL SULFATE41
BECLOMETHASONE DIPROPIONATE41
BERACTANT41
LUCINACTANT41
NITROGEN41
OXYGEN41
PALIVIZUMAB41
SPIRONOLACTONE41
ZINC SULFATE41
L-CITRULLINE33
BLOOD, WHOLE31
BECLOMETHASONE21
ZELPULTIDE ALFA12
CHEMBL429938103
CHEMBL24946602
CHEMBL123091401
CHEMBL156222301
CHEMBL3045801
CHEMBL120102601
1701
BROMIDE01