MCID: PLM124
MIFTS: 27

Pulmonary Hypertension, Neonatal

Categories: Genetic diseases

Aliases & Classifications for Pulmonary Hypertension, Neonatal

MalaCards integrated aliases for Pulmonary Hypertension, Neonatal:

Name: Pulmonary Hypertension, Neonatal 54 71
Pulmonary Hypertension, Neonatal, Susceptibility to 29
Phn 71

Classifications:



External Ids:

OMIM 54 615371
MeSH 42 D006976

Summaries for Pulmonary Hypertension, Neonatal

UniProtKB/Swiss-Prot : 71 Pulmonary hypertension, neonatal: A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease.

MalaCards based summary : Pulmonary Hypertension, Neonatal, also known as pulmonary hypertension, neonatal, susceptibility to, is related to postherpetic neuralgia and herpes zoster, and has symptoms including neuralgia and sciatica. An important gene associated with Pulmonary Hypertension, Neonatal is CPS1 (Carbamoyl-Phosphate Synthase 1). The drugs Nitric Oxide and Iloprost have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain.

Description from OMIM: 615371

Related Diseases for Pulmonary Hypertension, Neonatal

Diseases related to Pulmonary Hypertension, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 postherpetic neuralgia 10.4
2 herpes zoster 9.8
3 pulmonary interstitial glycogenosis 9.6
4 myopathy, myofibrillar, 1 8.9 APOH CASR CPS1

Symptoms & Phenotypes for Pulmonary Hypertension, Neonatal

Clinical features from OMIM:

615371

UMLS symptoms related to Pulmonary Hypertension, Neonatal:


neuralgia, sciatica

Drugs & Therapeutics for Pulmonary Hypertension, Neonatal

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

(show top 50) (show all 58)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4,Phase 3,Phase 2,Phase 1 10102-43-9 145068
2
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
3
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
4 Pharmaceutical Solutions Phase 4,Phase 3
5 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
6 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
7 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1 171599-83-0
8 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
13 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Bronchodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 2,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1
19 Antihypertensive Agents Phase 4,Phase 3,Phase 2
20 Tezosentan Phase 4,Phase 2
21 Endothelial Growth Factors Phase 4
22 Mitogens Phase 4
23 Citrate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
24
Citric Acid Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 77-92-9 311
25
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
26
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
27 Poractant alfa Approved Phase 3 129069-19-8
28 tannic acid Approved, Nutraceutical Phase 3
29 Pulmonary Surfactants Phase 3
30 Endothelin Receptor Antagonists Phase 3
31
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
32
Alprostadil Approved, Investigational Phase 2 745-65-3 149351
33
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
34
Milrinone Approved Phase 2 78415-72-2 4197
35 Anesthetics Phase 2
36 Anti-Inflammatory Agents Phase 2
37 Betamethasone benzoate Phase 2
38 Betamethasone sodium phosphate Phase 2
39 Betamethasone Valerate Phase 2 2152-44-5
40 Betamethasone-17,21-dipropionate Phase 2
41 glucocorticoids Phase 2
42 Hormone Antagonists Phase 2
43 Hormones Phase 2
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
45 Antidepressive Agents, Tricyclic Phase 2
46 Phosphodiesterase 3 Inhibitors Phase 2
47
Carbon monoxide Approved 630-08-0 281
48
Ibuprofen Approved 15687-27-1 3672
49 Antimetabolites
50 Hemostatics

Interventional clinical trials:

(show top 50) (show all 64)

id Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension Secondary to Meconium Aspiration Syndrome in Newborns Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
2 Early iNO for Oxidative Stress, Vascular Tone and Inflammation in Babies With Hypoxic Respiratory Failure Recruiting NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO
3 Inhaled Iloprost for the Treatment of Persistent Pulmonary Hypertension in the Term and Near Term Infants. Terminated NCT00409526 Phase 4 Inhaled Iloprost
4 Inhaled Aerosolized Prostacyclin for Pulmonary Hypertension Requiring Inhaled Nitric Oxide Terminated NCT02170519 Phase 4 Inhaled Iloprost
5 Sildenofil in Persistent Pulmonary Hypertension in Newborns Unknown status NCT01558466 Phase 3 Sildenafil;diluent
6 Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary Hypoplasia Unknown status NCT01240057 Phase 2, Phase 3
7 A Study To Evaluate Safety And Efficacy Of IV Sildenafil In The Treatment Of Neonates With Persistent Pulmonary Hypertension Of The Newborn Recruiting NCT01720524 Phase 3 placebo;iv sildenafil
8 Evaluation of the Efficacy Safety and Tolerability of Nitric Oxide Given Intermittently Via Inhalation to Subjects With Bronchiolitis Recruiting NCT03053388 Phase 3 Nitric Oxide
9 Persistent Pulmonary Hypertension of the Newborn Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
10 Surfactant Versus Nasal Continuous Positive Airway Pressure (nCPAP) for Respiratory Distress Syndrome in the Newborn ≥ 35 Weeks of Gestation Terminated NCT01306240 Phase 3
11 Inhaled Nitric Oxide for Preterm Infants With Severe Respiratory Failure Terminated NCT00016523 Phase 3 Inhaled nitric oxide;Placebo
12 Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic Hernia Unknown status NCT00373438 Phase 2
13 Efficacy of Antenatal Steroids in Reducing Respiratory Morbidities in Late Preterm Infants Unknown status NCT01206946 Phase 2 Betamethasone
14 A Non-Interventional Follow Up Study For Subjects Who Received Sildenafil for Persistent Pulmonary Hypertension of the Newborn (PPHN) Completed NCT01801982 Phase 2
15 Examining the Use of Non-Invasive Inhaled Nitric Oxide to Reduce Chronic Lung Disease in Premature Newborns Completed NCT00955487 Phase 2 Inhaled Nitric Oxide (iNO);Nitrogen (placebo)
16 Randomized Placebo-controlled Trial of Inhaled iNO in Acute ST-segment Elevation MI Treated by Primary Angioplasty Completed NCT00854711 Phase 2
17 Evaluation of the Safety and Tolerability of Nitric Oxide (NO) Via Inhalation to Subjects With Bronchiolitis Completed NCT01768884 Phase 1, Phase 2 Nitric Oxide;Placebo
18 Remodulin as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
19 PK Study of Sildenafil in Neonate Recruiting NCT02244528 Phase 2 Sildenafil
20 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
21 Study To Investigate Safety And Efficacy Of Sildenafil In The Newborns With Persistent Pulmonary Hypertension (PPHN) Terminated NCT01069861 Phase 2 sildanefil
22 Study of Sildenafil to Treat Newborns With Persistent Pulmonary Hypertension Terminated NCT01409031 Phase 2 Intravenous Sildenafil
23 Inhaled Prostaglandin E1 (IPGE1) for Hypoxemic Respiratory Failure (NHRF) Terminated NCT01467076 Phase 2 Aerosolized Normal Saline;Inhaled PGE1
24 IV Sildenafil Persistent Pulmonary Hypertension Of The Newborn Withdrawn NCT01360671 Phase 2 Sildenafil
25 Inhaled PGE1 in Neonatal Hypoxemic Respiratory Failure Withdrawn NCT00598429 Phase 2 Inhaled Prostaglandin E1
26 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
27 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
28 Effect of Supine or Prone Position After Caesarean Birth Completed NCT01310153 Phase 1
29 Iloprost Effects on Gas Exchange and Pulmonary Mechanics Completed NCT01274481 Phase 1 Iloprost
30 Evaluation of Safety and Tolerability of Nitric Oxide Impregnated Urinary Catheters Completed NCT02277171 Phase 1
31 Sildenafil Administration to Treat Neonatal Encephalopathy Recruiting NCT02812433 Phase 1 Sildenafil;Ora-Blend
32 Mesenchymal Stem Cell Therapy for Bronchopulmonary Dysplasia in Preterm Babies Not yet recruiting NCT02443961 Phase 1
33 Nitro Oxide Inhalation Continued With Sildenafil on Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 NO inhalation;NO inhalation continued with sildenafil
34 The Safety and Adverse Reaction Study of Neonatal to Inhaled Carbon Monoxide Unknown status NCT01818843
35 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
36 Study Protocol Evaluating Transient Tachypnoea of the Newborn in Term and Near Term Neonates Unknown status NCT00213941
37 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
38 NO Need to Ventilate: A Trial of Non-invasive Inhaled Nitric Oxide in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 iNO
39 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
40 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
41 Study on the Use of Inhaled NO (iNO) Completed NCT02821156
42 Platelet Function During ECMO (Extra Corporeal Membrane Oxygenation) Completed NCT00748878
43 Inhaled Prostacyclin for Adult Respiratory Distress Syndrome (ARDS) and Pulmonary Hypertension Completed NCT00314548 PGE1 (prostacyclin);normal saline
44 Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene Completed NCT01225679
45 Study of the Effect of Four Methods of Cardiopulmonary Resuscitation Instruction on Psychosocial Response of Parents With Infants at Risk of Sudden Death Completed NCT00004805
46 Registry Evaluating Premature and Term-Near-Term Neonates With Pulmonary Hypertension Receiving Inhaled Nitric Oxide Recruiting NCT03132428 Nitric Oxide Gas, for inhalation: Observational Study
47 PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn Recruiting NCT00710177
48 Markers of Inflammation and Lung Recovery in ECMO Patients for PPHN Recruiting NCT02940327
49 Neolifes Heart - Pulmonary Hypertension in Preterm Children Recruiting NCT02729844
50 Plethismographic Perfusion Index in Neonates Recruiting NCT02380040

Search NIH Clinical Center for Pulmonary Hypertension, Neonatal

Genetic Tests for Pulmonary Hypertension, Neonatal

Genetic tests related to Pulmonary Hypertension, Neonatal:

id Genetic test Affiliating Genes
1 Pulmonary Hypertension, Neonatal, Susceptibility to 29

Anatomical Context for Pulmonary Hypertension, Neonatal

MalaCards organs/tissues related to Pulmonary Hypertension, Neonatal:

39
Heart, Lung, Brain, Liver, Endothelial

Publications for Pulmonary Hypertension, Neonatal

Variations for Pulmonary Hypertension, Neonatal

ClinVar genetic disease variations for Pulmonary Hypertension, Neonatal:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CPS1 NM_001875.4(CPS1): c.4196A> C (p.Asn1399Thr) single nucleotide variant risk factor rs121912594 GRCh37 Chromosome 2, 211540486: 211540486
2 CPS1 NM_001875.4(CPS1): c.209_216dupAAGTGGTT (p.Phe73Lysfs) duplication Likely pathogenic GRCh37 Chromosome 2, 211438104: 211438111

Expression for Pulmonary Hypertension, Neonatal

Search GEO for disease gene expression data for Pulmonary Hypertension, Neonatal.

Pathways for Pulmonary Hypertension, Neonatal

GO Terms for Pulmonary Hypertension, Neonatal

Cellular components related to Pulmonary Hypertension, Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 APOH CASR

Biological processes related to Pulmonary Hypertension, Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 vasodilation GO:0042311 8.62 CASR CPS1

Molecular functions related to Pulmonary Hypertension, Neonatal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.96 CASR CPS1
2 phospholipid binding GO:0005543 8.62 APOH CPS1

Sources for Pulmonary Hypertension, Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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