MCID: PLM013
MIFTS: 31

Pulmonary Immaturity

Categories: Fetal diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Immaturity

MalaCards integrated aliases for Pulmonary Immaturity:

Name: Pulmonary Immaturity 12 15
Primary Atelectasis, in Perinatal Period 12 73
Primary Atelectasis of Newborn 12

Classifications:



External Ids:

Disease Ontology 12 DOID:424
ICD10 33 P28.0
ICD9CM 35 770.4
SNOMED-CT 68 42908004
UMLS 73 C0270163

Summaries for Pulmonary Immaturity

MalaCards based summary : Pulmonary Immaturity, also known as primary atelectasis, in perinatal period, is related to surfactant metabolism dysfunction, pulmonary, 1 and tracheal agenesis. An important gene associated with Pulmonary Immaturity is MAPK4 (Mitogen-Activated Protein Kinase 4), and among its related pathways/superpathways are Diseases of metabolism and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Poractant alfa and Pulmonary Surfactants have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are Increased transferrin (TF) endocytosis and growth/size/body region

Related Diseases for Pulmonary Immaturity

Diseases related to Pulmonary Immaturity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 surfactant metabolism dysfunction, pulmonary, 1 10.4
2 tracheal agenesis 10.3 SFTPB SFTPD
3 neonatal respiratory failure 10.2 SFTPB SFTPC
4 surfactant dysfunction 10.2 SFTPB SFTPC
5 respiratory distress syndrome in premature infants 10.2 SFTPB SFTPC
6 acute respiratory distress syndrome 10.2 SFTPB SFTPC SFTPD
7 newborn respiratory distress syndrome 10.2 SFTPB SFTPC SFTPD
8 pulmonary alveolar proteinosis 10.2 SFTPB SFTPC SFTPD
9 phimosis 10.2 CYP1A1 CYP1B1
10 interstitial lung disease 10.1 SFTPB SFTPC SFTPD
11 pneumonia 10.1 SFTPB SFTPC SFTPD
12 leech infestation 10.1 F3 SERPINC1
13 intestinal impaction 10.0 F3 SERPINC1
14 fournier gangrene 10.0 F3 SERPINC1
15 heparin-induced thrombocytopenia 10.0 F3 SERPINC1
16 mammographic density 10.0 CYP1A1 CYP1B1
17 burns 10.0 CRH SERPINC1
18 giant hemangioma 10.0 F3 SERPINC1
19 pulmonary fibrosis, idiopathic 10.0 SFTPB SFTPC SFTPD VCAM1
20 sagittal sinus thrombosis 10.0 F3 SERPINC1
21 respiratory failure 10.0 F3 SFTPB SFTPC SFTPD
22 lung cancer susceptibility 3 10.0 CYP1A1 CYP1B1 SFTPB SFTPC
23 blue toe syndrome 10.0 F3 SERPINC1
24 shwartzman phenomenon 9.9 F3 VCAM1
25 antiphospholipid syndrome 9.9 F3 SERPINC1 VCAM1
26 peripheral vascular disease 9.9 F3 SERPINC1 VCAM1
27 arteries, anomalies of 9.9 F3 SERPINC1 VCAM1
28 subendocardial myocardial infarction 9.9 SERPINC1 VCAM1
29 diaphragmatic hernia, congenital 9.8
30 pre-eclampsia 9.7 CRH F3 SERPINC1 VCAM1
31 preterm premature rupture of the membranes 9.7

Graphical network of the top 20 diseases related to Pulmonary Immaturity:



Diseases related to Pulmonary Immaturity

Symptoms & Phenotypes for Pulmonary Immaturity

GenomeRNAi Phenotypes related to Pulmonary Immaturity according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.36 CEBPA CRH CYP1A1 F3 LEF1 MAPK4

MGI Mouse Phenotypes related to Pulmonary Immaturity:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CEBPA CRH CYP1A1 F3 FOXJ1 IRX1
2 homeostasis/metabolism MP:0005376 10.22 CEBPA CRH CYP1A1 CYP1B1 F3 IRX1
3 mortality/aging MP:0010768 10.2 CEBPA CYP1A1 F3 FOXJ1 IRX1 LEF1
4 behavior/neurological MP:0005386 10.18 CEBPA CRH F3 FOXJ1 IRX1 MAPK6
5 cardiovascular system MP:0005385 10.16 CEBPA CYP1A1 F3 FOXJ1 LEF1 MAPK6
6 immune system MP:0005387 10.11 CEBPA CRH CYP1A1 F3 LEF1 SERPINC1
7 no phenotypic analysis MP:0003012 9.8 CEBPA CRH CYP1A1 SFTPC SOX2 SOX9
8 reproductive system MP:0005389 9.76 CEBPA FOXJ1 LEF1 SERPINC1 SFTPC SOX2
9 respiratory system MP:0005388 9.73 CEBPA CRH F3 FOXJ1 IRX1 MAPK4
10 vision/eye MP:0005391 9.23 CEBPA CYP1B1 F3 LEF1 SERPINC1 SFTPC

Drugs & Therapeutics for Pulmonary Immaturity

Drugs for Pulmonary Immaturity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Poractant alfa Approved Phase 3 129069-19-8
2 Pulmonary Surfactants Phase 3
3 Respiratory System Agents Phase 3,Phase 1,Phase 2
4
Betamethasone Approved, Vet_approved Phase 1, Phase 2 378-44-9 9782
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
6 Betamethasone Valerate Phase 1, Phase 2 2152-44-5
7 Betamethasone benzoate Phase 1, Phase 2
8 Anti-Inflammatory Agents Phase 1, Phase 2
9 Betamethasone sodium phosphate Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Anti-Asthmatic Agents Phase 1, Phase 2
13 glucocorticoids Phase 1, Phase 2
14 Betamethasone-17,21-dipropionate Phase 1, Phase 2
15 Calamus Not Applicable
16 Fibrin fragment D Not Applicable

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Multi-center Trial to Determine if Curosurf® Reduces the Duration of Mechanical Ventilation in Very Preterm Infants Completed NCT01709409 Phase 3 Curosurf-Group1;BLES-group 2
2 Prenatal Steroids for Treatment of Congenital Cystic Adenomatoid Malformations (CCAM) Terminated NCT00670956 Phase 1, Phase 2 Betamethasone;Placebo
3 Genetic Susceptibility for Bronchopulmonary Dysplasia in Preterm Infants Unknown status NCT00904774
4 Supplemental Oxygen Study Unknown status NCT02464917 Not Applicable
5 Trial of a Limited Versus Traditional Oxygen Strategy During Resuscitation in Premature Newborns Completed NCT01697904 Not Applicable
6 Patient Comfort During High Flow Nasal Cannula Versus Nasal Continuous Airway Pressure (CPAP) Completed NCT01526226 Not Applicable
7 Comparison of Different Oxygen Delivery Strategies During Resuscitation of Babies Completed NCT00356902 Not Applicable
8 Pilot Study of the Effects of Exercise on Aging Among Older Persons With HIV Completed NCT01860261 Not Applicable
9 Diaphragm Electrical Activity of Preterm Infants on nCPAP With Binasal Prongs Versus RAM Cannula Recruiting NCT03121781 Not Applicable
10 Diaphragm Electrical Activity of Preterm Infants on nCPAP Versus NIHFV Recruiting NCT02267018 Not Applicable
11 Magnetic Non-Invasive Acupuncture For Infant Comfort A Pilot Study in Preterm Infants Requiring Eye-exam for Retinopathy of Prematurity Recruiting NCT03650621 Not Applicable
12 Diaphragmatic Electrical Activity in Preterm Infants on Non-Invasive Ventilation Not yet recruiting NCT03422549 Not Applicable

Search NIH Clinical Center for Pulmonary Immaturity

Genetic Tests for Pulmonary Immaturity

Anatomical Context for Pulmonary Immaturity

MalaCards organs/tissues related to Pulmonary Immaturity:

41
Lung

Publications for Pulmonary Immaturity

Articles related to Pulmonary Immaturity:

# Title Authors Year
1
Loss of Erk3 function in mice leads to intrauterine growth restriction, pulmonary immaturity, and neonatal lethality. ( 19805361 )
2009
2
Prenatal glucocorticoid therapy reverses pulmonary immaturity in congenital diaphragmatic hernia in fetal sheep. ( 8857848 )
1996
3
Antenatal glucocorticoid corrects pulmonary immaturity in experimentally induced congenital diaphragmatic hernia in rats. ( 7520565 )
1994
4
Infrequency of pulmonary immaturity in an indigent population with preterm premature rupture of the membranes. ( 3574826 )
1987

Variations for Pulmonary Immaturity

Expression for Pulmonary Immaturity

Search GEO for disease gene expression data for Pulmonary Immaturity.

Pathways for Pulmonary Immaturity

Pathways related to Pulmonary Immaturity according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 SFTPB SFTPC SFTPD
2 11.38 FOXJ1 SOX2 SOX9 VCAM1
3 11.07 LEF1 SOX2 SOX9
4
Show member pathways
10.97 SFTPB SFTPC SFTPD
5 10.63 LEF1 VCAM1
6 10.48 CYP1A1 CYP1B1
7
Show member pathways
10.2 SFTPB SFTPC SFTPD

GO Terms for Pulmonary Immaturity

Cellular components related to Pulmonary Immaturity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 CRH DEFB1 F3 SERPINC1 SFTPB SFTPC
2 transcription factor complex GO:0005667 9.46 CEBPA LEF1 SOX2 SOX9
3 nuclear transcription factor complex GO:0044798 9.37 SOX2 SOX9
4 lamellar body GO:0042599 9.32 SFTPB SFTPC
5 multivesicular body lumen GO:0097486 8.96 SFTPB SFTPC
6 clathrin-coated endocytic vesicle GO:0045334 8.8 SFTPB SFTPC SFTPD

Biological processes related to Pulmonary Immaturity according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 CEBPA FOXJ1 LEF1 SOX2 SOX9
2 cytokine-mediated signaling pathway GO:0019221 9.71 CEBPA F3 SOX2 VCAM1
3 steroid metabolic process GO:0008202 9.63 CRH CYP1A1 CYP1B1
4 calcium-mediated signaling using intracellular calcium source GO:0035584 9.49 DEFB1 VCAM1
5 epoxygenase P450 pathway GO:0019373 9.48 CYP1A1 CYP1B1
6 cellular response to organic cyclic compound GO:0071407 9.43 CEBPA CYP1A1 CYP1B1
7 omega-hydroxylase P450 pathway GO:0097267 9.37 CYP1A1 CYP1B1
8 toxin metabolic process GO:0009404 9.32 CYP1A1 CYP1B1
9 cellular protein metabolic process GO:0044267 9.26 SERPINC1 SFTPB SFTPC SFTPD
10 amine metabolic process GO:0009308 9.16 CYP1A1 VCAM1
11 respiratory gaseous exchange GO:0007585 8.8 SFTPB SFTPC SFTPD

Molecular functions related to Pulmonary Immaturity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.56 CEBPA LEF1 SOX2 SOX9
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.5 FOXJ1 SOX2 SOX9
3 aromatase activity GO:0070330 9.43 CYP1A1 CYP1B1
4 sequence-specific DNA binding GO:0043565 9.43 CEBPA FOXJ1 IRX1 LEF1 SOX2 SOX9
5 enhancer binding GO:0035326 9.4 LEF1 SOX9
6 MAP kinase activity GO:0004707 9.37 MAPK4 MAPK6
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 CEBPA LEF1 SOX9
8 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.02 CEBPA FOXJ1 LEF1 SOX2 SOX9

Sources for Pulmonary Immaturity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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