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PDA1
MCID: PTN014
MIFTS: 59

Patent Ductus Arteriosus 1 (PDA1)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Patent Ductus Arteriosus 1

About this section

MalaCards integrated aliases for Patent Ductus Arteriosus 1:

Name: Patent Ductus Arteriosus 1 57 29
Patent Ductus Arteriosus 57 12 73 20 36 6 15 62 32
Patent Ductus Arteriosus, Susceptibility to 57 13
Ductus Arteriosus, Patent 12 44
Pda1 57 20
Pda 57 20
Patent Ductus Arteriosus - Persisting Type 70
Patent Ductus Arteriosus Familial 20
Patency of the Ductus Arteriosus 20
Ductus Arteriosus Patent 54
Patent Ductus Botalli 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
patent ductus arteriosus 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:13832
OMIM® 57 607411
OMIM Phenotypic Series 57 PS607411
KEGG 36 H01630
ICD9CM 34 747.0
MeSH 44 D004374
NCIt 50 C84492
SNOMED-CT 67 156928009
ICD10 32 Q25.0
MedGen 41 C4282128
SNOMED-CT via HPO 68 258211005 83330001
UMLS 70 C0013274 C3495549
Sources

Summaries for Patent Ductus Arteriosus 1

About this section
OMIM® : 57 Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002). (607411) (Updated 20-May-2021)

MalaCards based summary : Patent Ductus Arteriosus 1, also known as patent ductus arteriosus, is related to aneurysm and char syndrome. An important gene associated with Patent Ductus Arteriosus 1 is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Poractant alfa and Beractant have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney, and related phenotypes are patent ductus arteriosus and cardiovascular system

KEGG : 36 Patent ductus arteriosus (PDA) is a common congenital heart defect with both inherited and acquired causes. The ductus arteriosus (DA) is a fetal specific vascular connection between the main pulmonary artery and the aorta. After birth, the DA normally closes within the first several days of life. If present after the age of 3 month, this condition is known as PDA. PDA can cause significant problems, especially in premature infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize the risk of these complications. Prostaglandin inhibition using indomethacin or ibuprofen is the standard strategy to close the DA. Surgical closure of the DA is an alternative option. Autosomal dominant forms of PDA caused by mutation in the TFAP2B and PRDM6 gene has been reported. PDA has been reported in a few subjects with thoracic aortic aneurysm and rare genetic variants in MYH11 and ACTA2.

PubMed Health : 62 About patent ductus arteriosus: Patent ductus arteriosus (PDA) is a heart problem that affects some babies soon after birth. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. These arteries are the aorta and the pulmonary (PULL-mun-ary) artery. Before birth, these arteries are connected by a blood vessel called the ductus arteriosus. This blood vessel is a vital part of fetal blood circulation. Within minutes or up to a few days after birth, the ductus arteriosus closes. This change is normal in newborns. In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can strain the heart and increase blood pressure in the lung arteries.

Wikipedia : 73 Patent ductus arteriosus (PDA) is a medical condition in which the ductus arteriosus fails to close... more...

Sources

Related Diseases for Patent Ductus Arteriosus 1

About this section

Diseases in the Patent Ductus Arteriosus 1 family:

Patent Ductus Arteriosus 2 Patent Ductus Arteriosus 3

Diseases related to Patent Ductus Arteriosus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 507)
# Related Disease Score Top Affiliating Genes
1 aneurysm 32.1 MYH11 FBN1 ACTA2
2 char syndrome 32.0 TFAP2B TFAP2A TBX5 TBX20 MYH11
3 aortic dissection 31.6 MYH11 FBN1 ACTA2
4 tetralogy of fallot 31.6 TFAP2B TBX5 TBX20 PTPN11 PRODH NPPB
5 tricuspid valve insufficiency 31.6 PTPN11 NPPB MYH11 FBN1
6 heart disease 31.6 TFAP2B TBX5 TBX20 PTPN11 PRODH NPPB
7 patent foramen ovale 31.5 TFAP2B TBX5 TBX20 PTPN11 NPPB NKX2-5
8 dextro-looped transposition of the great arteries 31.5 TBX5 NPPB NKX2-5 GATA4
9 aortic aneurysm, familial thoracic 1 31.4 MYH11 FBN1 ACTA2
10 pulmonary valve stenosis 31.3 TBX5 TBX20 PTPN11 NKX2-5 GATA4 FBN1
11 heritable thoracic aortic disease 31.3 MYH11 FBN1 ACTA2
12 total anomalous pulmonary venous return 1 31.3 TBX5 NKX2-5 GATA4
13 loeys-dietz syndrome 31.2 MYH11 FBN1 ACTA2
14 atrioventricular block 31.2 TBX5 NPPB NKX2-5 GATA4
15 interatrial communication 31.2 TBX5 TBX20 NKX2-5 GATA4
16 atrioventricular septal defect 31.2 TBX5 TBX20 NKX2-5 GATA4
17 orthostatic intolerance 31.2 MYH11 MIR379 FBN1 ACTA2
18 diaphragmatic hernia, congenital 31.1 TBX5 GATA4 FBN1
19 aortic disease 31.1 MYH11 FBN1 ACTA2
20 pulmonary valve insufficiency 31.1 NPPB FBN1
21 wolff-parkinson-white syndrome 31.1 TBX20 NPPB NKX2-5 ABCC9
22 ventricular septal defect 31.0 TBX5 NPPB NKX2-5 GATA4
23 tricuspid atresia 31.0 TBX5 TBX20 PRODH NKX2-5 GATA4
24 holt-oram syndrome 31.0 TFAP2B TBX5 TBX20 NKX2-5 GATA4
25 heart septal defect 31.0 TBX5 TBX20 PTPN11 PRODH NKX2-5 GATA4
26 left ventricular noncompaction 30.9 TBX5 TBX20 NKX2-5 GATA4
27 noonan syndrome with multiple lentigines 30.8 TBX5 PTPN11 NKX2-5 GATA4
28 heart valve disease 30.8 NPPB NKX2-5 MIR379 FBN1
29 aortic valve disease 2 30.7 TBX5 NPPB NKX2-5 MIR379 GATA4 FBN1
30 aortic valve disease 1 30.7 TBX5 TBX20 NKX2-5 MYH11 GATA4 FBN1
31 dilated cardiomyopathy 30.6 TBX5 TBX20 PTPN11 NPPB NKX2-5 GATA4
32 atrial heart septal defect 30.5 TFAP2B TBX5 TBX20 PTPN11 PRODH NPPB
33 aortic valve insufficiency 30.3 NPPB MYH11 FBN1 ACTA2
34 mitral valve insufficiency 30.3 TBX5 NPPB MYH11 FBN1
35 speech disorder 30.3 PRODH NKX2-5 CFAP47
36 hypoplastic left heart syndrome 30.2 TBX5 TBX20 NPPB NKX2-5 GATA4
37 double outlet right ventricle 30.2 TFAP2A TBX5 TBX20 NKX2-5 GATA4
38 digeorge syndrome 30.2 TBX5 TBX20 PRODH NKX2-5 GATA4
39 respiratory failure 30.2 NPPB INPP5E HYDIN GATA4
40 lipoprotein quantitative trait locus 30.1 TBX5 TBX20 NPPB NKX2-5 MYH11 GATA4
41 marfan syndrome 29.7 MYH11 FBN1 ACTA2
42 fontaine progeroid syndrome 11.7
43 aortic aneurysm, familial thoracic 4 11.6
44 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth 11.5
45 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 11.5
46 heterotaxy, visceral, 1, x-linked 11.4
47 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.4
48 ramos arroyo clark syndrome 11.4
49 subvalvular aortic stenosis 11.4
50 right pulmonary artery, anomalous origin of, familial 11.3

Graphical network of the top 20 diseases related to Patent Ductus Arteriosus 1:



Diseases related to Patent Ductus Arteriosus 1
Sources

Symptoms & Phenotypes for Patent Ductus Arteriosus 1

About this section

Human phenotypes related to Patent Ductus Arteriosus 1:

31
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 31 HP:0001643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
patent ductus arteriosus

Clinical features from OMIM®:

607411 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Patent Ductus Arteriosus 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ABCC9 ACTA2 FBN1 GATA4 HYDIN INPP5E
2 growth/size/body region MP:0005378 10.28 ABCC9 FBN1 GATA4 HYDIN INPP5E MYH11
3 cellular MP:0005384 10.26 ABCC9 FBN1 GATA4 HYDIN INPP5E MYH11
4 mortality/aging MP:0010768 10.13 ABCC9 FBN1 GATA4 HYDIN INPP5E MYH11
5 integument MP:0010771 10.1 FBN1 GATA4 INPP5E MYH11 NKX2-5 PRODH
6 craniofacial MP:0005382 10.06 FBN1 HYDIN INPP5E NKX2-5 PTPN11 TBX20
7 muscle MP:0005369 10.03 ABCC9 ACTA2 FBN1 GATA4 HYDIN MYH11
8 limbs/digits/tail MP:0005371 9.97 FBN1 GATA4 INPP5E PRODH PTPN11 TBX5
9 nervous system MP:0003631 9.9 ABCC9 FBN1 GATA4 HYDIN INPP5E NKX2-5
10 respiratory system MP:0005388 9.65 FBN1 GATA4 HYDIN MYH11 NKX2-5 PRODH
11 skeleton MP:0005390 9.28 FBN1 GATA4 HYDIN INPP5E PRODH PTGER4
Sources

Drugs & Therapeutics for Patent Ductus Arteriosus 1

About this section

PubMed Health treatment related to Patent Ductus Arteriosus 1: 62

Patent ductus arteriosus (PDA) is treated with medicines, catheter -based procedures, and surgery . The goal of treatment is to close the PDA. Closure will help prevent complications and reverse the effects of increased blood volume. Small PDAs often close without treatment . For full-term infants, treatment is needed if the PDA is large or causing health problems. For premature infants, treatment is needed if the PDA is causing breathing problems or heart problems. Talk with your child's doctor about treatment options and how your family prefers to handle treatment decisions.

Drugs for Patent Ductus Arteriosus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Poractant alfa Approved Phase 4 129069-19-8
2
Beractant Approved Phase 4 108778-82-1
3 Respiratory System Agents Phase 4
4 Pulmonary Surfactants Phase 4
5
tannic acid Approved Phase 3 1401-55-4
6
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
7
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
8
Fenoldopam Approved Phase 2, Phase 3 67227-56-9, 67227-57-0 3341
9
Acetaminophen Approved Phase 3 103-90-2 1983
10
Lysine Approved, Nutraceutical Phase 3 56-87-1 5962
11 Vasodilator Agents Phase 2, Phase 3
12 Dopamine Agents Phase 2, Phase 3
13 Dopamine agonists Phase 2, Phase 3
14 Neurotransmitter Agents Phase 2, Phase 3
15 Antihypertensive Agents Phase 2, Phase 3
16 Pharmaceutical Solutions Phase 2, Phase 3
17 Antipyretics Phase 3
18
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
19
Meclocycline Investigational Phase 2 2013-58-3 5480760
20 Antioxidants Phase 2
21 Protective Agents Phase 2
22 Phosphodiesterase Inhibitors Phase 2
23 Radiation-Protective Agents Phase 2
24 Platelet Aggregation Inhibitors Phase 2
25 Orange Approved
26
Nitric Oxide Approved 10102-43-9 145068
27
Iron Approved 7439-89-6 23925 29936
28
Adenosine Approved, Investigational 58-61-7 60961
29 Omega 3 Fatty Acid
30 Soy Bean
31 Natriuretic Peptide, Brain
32 Analgesics, Opioid
33 diuretics
34 Fibrin fragment D
35 Antifibrinolytic Agents
36 Coagulants
37 Hemostatics

Interventional clinical trials:

(show top 50) (show all 121)
# Name Status NCT ID Phase Drugs
1 Comparison Between the Effect of Oral Paracetamol Versus Oral Ibuprofen in the Treatment of Patent Ductus Arteriosus in Preterm and Low Birth Weight Infants Unknown status NCT03265782 Phase 4 ibuprofen;paracetamol
2 Serum Level Measurement of Oral Paracetamol and Oral Ibuprofen Unknown status NCT01544972 Phase 4 Oral paracetamol;Oral ibuprofen
3 Randomized Pilot Study Comparing Oral Ibuprofen With Intravenous Ibuprofen in Very Low Birth Weight Infants With Patent Ductus Arteriosus Completed NCT00642330 Phase 4 oral ibuprofen;intravenous ibuprofen
4 Oral Paracetamol Versus Oral Ibuprofen Treatment Completed NCT01536158 Phase 4 Oral paracetamol;Oral ibuprofen
5 Ibuprofen and Renal Function in Premature Infants Completed NCT00217191 Phase 4 Ibuprofen
6 Safety and Efficacy of an Optimized Ibuprofen Dosing Regimen Versus Standard Dosing for Pharmacologic Closure of Patent Ductus Arteriosus Terminated NCT00961753 Phase 4 optimized ibuprofen;Standard Ibuprofen
7 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)
8 A Randomised Controlled Trial Comparing Ibuprofen And Indomethacin For The Treatment Of The Patent Ductus Arteriosus In Very Premature Infants Withdrawn NCT00470743 Phase 4 Ibuprofen;Indomethacin
9 Adding Paracetamol to Ibuprofen for Treatment of Patent Ductus Arteriosus in Preterm Infants: A Pilot, Double Blind, Randomized, Placebo-control Trial Completed NCT02002741 Phase 2, Phase 3 Paracetamol;Placebo
10 Impact of Early Targeted Ibuprofene Treatment of Patent Ductus Arteriosus (PDA) on Long Term Neurodevelopmental Outcome in Very Premature Infants (TRIOCAPI) Completed NCT01630278 Phase 3 Ibuprofen;Placebo
11 High-dose Ibuprofen for Patent Ductus Arteriosus in Extremely Preterm Infants: a Randomized Controlled Study Completed NCT01243996 Phase 2, Phase 3 Ibuprofen
12 Comparison of Intravenous Ibuprofen vs. Continuous Indomethacin in the Treatment of Patent Ductus Arteriosus Completed NCT00485160 Phase 3 Continuous indomethacin;ibuprofen
13 Randomised Controlled Clinical Trial of Echocardiographically Guided Versus Standard Ibuprofen Treatment for Patent Ductus Arteriosus: a Pilot Study Completed NCT01593163 Phase 3 Ibuprofen EchoG;Standard ibuprofen treatment
14 Randomized, Double-Blind Study of Ibuprofen L-Lysine Intravenous Solution in Premature Infants for the Early Treatment of Patent Ductus Arteriosus Completed NCT00440804 Phase 3 ibuprofen l-lysine iv solution (NeoProfen (R) )
15 Liberal Versus Restrictive Platelet Transfusion for Treatment of Hemodynamically Significant Patent Ductus Arteriosus in Thrombocytopenic Preterm Neonates- A Randomized Open Label, Controlled Trial Completed NCT03022253 Phase 3 Paracetamol;Ibuprofen
16 Management of Patent Ductus in Premature Infants Completed NCT00000494 Phase 3 indomethacin
17 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
18 Prophylactic Treatment of the Ductus Arteriosus in Preterm Infants by Acetaminophen Recruiting NCT04459117 Phase 2, Phase 3 Acetaminophen;NACL 0.9%
19 Management of the Patent Ductus Arteriosus in Premature Infants Trial (PDA Trial) Recruiting NCT03456336 Phase 3
20 Paracetamol Versus Ibuprofen in Premature Infants With Hemodynamically Significant Patent Ductus Arteriosus: a Randomized Clinical Trial Recruiting NCT04037514 Phase 3 Paracetamol;Ibuprofen
21 Fenoldopam to Prevent Renal Dysfunction in Indomethacin Treated Preterm Infants Recruiting NCT02620761 Phase 2, Phase 3 Fenoldopam;0.9%NS
22 Phase III Clinical Trial, Randomized, Multicentre, Double Blind to Evaluate Two Guidelines for the Administration of Ibuprofen in the Treatment of Persistent Ductus Arteriosus Eco-guided: Impact in the Intestinal Prognosis Recruiting NCT04282941 Phase 3 Ibuprofen in continuous (24 hours) iv infusion and EchoG;IV bolus Ibuprofen slow (15 minutes) and EchoG
23 Alternative Acetaminophen Treatment of the Hemodynamivally Significant Patent Ductus Arteriosus in Preterm Neonates Who Are Not Candidates for Enteral Administration: A Pilot Study Not yet recruiting NCT03604796 Phase 2, Phase 3 Rectal Solution;Intravenous Infusion
24 Paracetamol Versus Ibuprofen for Patent Ductus Arteriosus Closure in Preterm Infants. A Prospective, Randomized, Controlled, Double Blind, Multicenter Clinical Trial. Suspended NCT02056223 Phase 2, Phase 3 Intravenous paracetamol;Intravenous ibuprofen
25 An Escalating Dose Indomethacin for the Treatment of Persistent Patent Ductus Arteriosus (PDA) In Preterm Infants- A Randomized Pilot Study Terminated NCT00750581 Phase 2, Phase 3 Indomethacin
26 Comparison of the Efficacy of IV Acetaminophen Versus IV Indomethacin in Treatment of Hemodynamically Significant PDA in VLBW Infants Terminated NCT03537144 Phase 3 Indomethacin;Acetaminophen
27 TIME TO RE-EVALUATE THE KINDER GENTLER APPROACH TO PATENT DUCTUS ARTERIOSUS (PDA) IN THE PRETERM NEONATE Unknown status NCT02819414 Phase 2 Paracetamol drops
28 New Therapeutic Approaches to the Resistant Patent Ductus Arteriosus (PDA) in Low Birth Weight Neonates Unknown status NCT00616382 Phase 2 Indomethacin;Pentoxifylline
29 Paracetamol in the Treatment of Patent Ductus Arteriosus in the Premature Neonate Unknown status NCT01291654 Phase 2 Paracetamol;NSAID;D5W
30 The Best Treatment Strategy: Surgical Versus Pharmacological, to Close the Ductus Arteriosus Persistent in Preterm Infants. A Randomized Controlled Trial Unknown status NCT02602054 Phase 2 Control group
31 Comparison of Oral and Intravenous Ibuprofen for Treatment of Patent Ductus Arteriosus in Extremely Premature Infants: A Randomized Controlled Trial Unknown status NCT01149564 Phase 1, Phase 2 iv ibuprofen;oral ibuprofen
32 Early Treatment Versus Delayed Conservative Treatment of the Patent Ductus Arteriosus in Preterm infants-a Multicenter Trial Completed NCT01958320 Phase 2 NSAID
33 Efficacy and Safety of Paracetamol in Comparison to Ibuprofen for Patent Ductus Arteriosus Treatment in Preterm Infants: A Randomized, Open Label, Comparator-controlled, Prospective Study Completed NCT02422966 Phase 2 Paracetamol;Ibuprofen
34 Efficacy and Safety of No Treatment Compared With Oral Ibuprofen Treatment for Patent Ductus Arteriosus in Preterm Infants: a Randomized, Double-blind, Placebo-controlled, Non-inferiority Clinical Trial Completed NCT02128191 Phase 2 Oral ibuprofen;Normal saline
35 Comparison of 2 Different Indomethacin Dosing Protocols to Treat Infants Delivered at <28 Weeks Gestation With a Persistent Patent Ductus Arteriosus Completed NCT00187447 Phase 2 indomethacin (two different dosing regimens)
36 The Preterm Infants' Paracetamol Study Recruiting NCT01938261 Phase 2 paracetamol;0.45 % saline solution
37 Monotherapy (Ibuprofen) vs. Combination Therapy (Ibuprofen and Acetaminophen) in the Management of Patent Ductus Arteriosus in Premature Infants: A Randomized Controlled Trial Not yet recruiting NCT04026464 Phase 2 Intravenous Ibuprofen;Intravenous Ibuprofen + Oral Acetaminophen
38 Pharmacokinetics and Pharmacodynamics of Indomethacin Used for PDA Treatment in Extremely Preterm Neonates <27 Weeks Gestational Age Not yet recruiting NCT04025177 Phase 2 Indomethacin Injection
39 Single Center, Randomized, Double Blind, Placebo Controlled Trial to Evaluate the Safety and Efficacy of Acetaminophen in Preterm Infants Used in Combination With Ibuprofen for Closure of the Ductus Arteriosus Terminated NCT03701074 Phase 2 Ibuprofen and acetaminophen;Ibuprofen and placebo
40 Ibuprofen vs. Indomethacin as Second Course of Therapy for Resistant PDA in Low Birth Weight Neonates Withdrawn NCT01070745 Phase 2 Indomethacin;Ibuprofen
41 Combination of Acetaminophen and Ibuprofen in the Management of Patent Ductus Arteriosus in Premature Infants: A Pilot Study Completed NCT03103022 Phase 1 Acetaminophen;ibuprofen
42 Phase 1 Study for Safety and Effectiveness of the New Occlutech PDA Occluder, for Non Surgical Closure of Patent Ductus Arteriosus Completed NCT01479218 Phase 1
43 Paracetamol And Ibuprofen/Indomethacin in Closing Patent Ductus Arteriosus of Preterm Infants - Randomised, Placebo-controlled Multicentre Trial Recruiting NCT03648437 Phase 1 Paracetamol 10Mg/mL;0.45% Sodium Chloride;Ibuprofen;Indomethacin
44 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
45 Chest Shielding for Prevention of a Patent Ductus Arteriosus in Preterm Infants Receiving Phototherapy Effect of Phototherapy Unknown status NCT03675425
46 Timing of Closure of Patent Foramen Ovale and Patent Ductus Arteriosus Following Birth Unknown status NCT01032785
47 International Experience in Timing And Choices of Treatment For Ductal Closure in Patent Ductus Arteriosus: INTERPDA Trial Unknown status NCT02910609
48 Examination of Perfusion Index in Term and Preterm Newborns Through Plethismography Unknown status NCT02380040
49 A New Device for Measuring of Lung Photoplethysmography and Pulmonic Arterial Saturation Unknown status NCT02894970
50 Oral Ibuprofen Prophylaxis for Patent Ductus Arterioses in Very Extremely Low Birth Weight Infants Unknown status NCT01400737 ibuprofen;ibuprofen

Search NIH Clinical Center for Patent Ductus Arteriosus 1

Cochrane evidence based reviews: ductus arteriosus, patent

Sources

Genetic Tests for Patent Ductus Arteriosus 1

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Genetic tests related to Patent Ductus Arteriosus 1:

# Genetic test Affiliating Genes
1 Patent Ductus Arteriosus 1 29
Sources

Anatomical Context for Patent Ductus Arteriosus 1

About this section

MalaCards organs/tissues related to Patent Ductus Arteriosus 1:

40
Heart, Brain, Kidney, Smooth Muscle, Lung, Liver, Eye
Sources

Publications for Patent Ductus Arteriosus 1

About this section

Articles related to Patent Ductus Arteriosus 1:

(show top 50) (show all 8554)
# Title Authors PMID Year
1
Genetics of patent ductus arteriosus susceptibility and treatment. 61 57
22414880 2012
2
Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. 61 57
12409608 2002
3
Response of the patent ductus arteriosus to indomethacin treatment. 61 57
3812411 1987
4
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 6
29555671 2018
5
The prostaglandin receptor EP4 triggers remodelling of the cardiovascular system at birth. 57
9363893 1997
6
Congenital heart disease in 56,109 births. Incidence and natural history. 57
5102136 1971
7
Factors in the causation of persistent ductus arteriosus. 57
13736684 1960
8
Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. 57
13410899 1957
9
B-type natriuretic peptide concentrations to guide treatment of patent ductus arteriosus. 54 61
18981033 2009
10
Longitudinal changes of brain-type natriuretic peptide in preterm neonates. 61 54
16740863 2006
11
Role of plasma B-type natriuretic peptide in screening for hemodynamically significant patent ductus arteriosus in preterm neonates. 54 61
16222347 2005
12
The use of a bedside assay for plasma B-type natriuretic peptide as a biomarker in the management of patent ductus arteriosus in premature neonates. 61 54
16027692 2005
13
Cerebral perfusion and assessing hemodynamic significance for patent ductus arteriosus using near infrared red spectroscopy in very low birth weight infants. 61
31303077 2021
14
Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. 61
33590497 2021
15
Aortic sinus aneurysm communicating with the main pulmonary artery, and a concurrent patent ductus arteriosus, in a dog. 61
31943231 2021
16
Comparison of standard versus high-dose ibuprofen for the treatment of hemodynamically significant patent ductus arteriosus in preterm infants. 61
33795792 2021
17
Longitudinal Trajectories of Regional Cerebral Blood Flow in Very Preterm Infants during Third Trimester Ex Utero Development Assessed with MRI. 61
33787337 2021
18
A cardiopulmonary bypass strategy to support a patient with vein of Galen malformation. 61
33761787 2021
19
Early closure mechanisms of the ductus arteriosus in immature infants. 61
33655615 2021
20
Congenital heart diseases and parental occupational exposure in a Hungarian case-control study in 1997 to 2002. 61
33140474 2021
21
Chest shielding in preterm neonates under phototherapy-a randomised control trial. 61
32813124 2021
22
Ductal ligation timing and neonatal outcomes: a 12-year bicentric comparison. 61
33713339 2021
23
Lung Ultrasound Score Progress in Neonatal Respiratory Distress Syndrome. 61
33688032 2021
24
N-terminal pro-B-type-natriuretic peptide as a screening tool for pulmonary hypertension in the paediatric population. 61
33650482 2021
25
Recorded Flexible Nasolaryngoscopy for Neonatal Vocal Cord Assessment in a Prospective Cohort. 61
32795099 2021
26
Jackson-Henderson technique for the revision surgery following PDA rupture in a dog. 61
33762187 2021
27
Feeding Strategies in Preterm Very Low Birth-Weight Infants: State-of-the-Science Review. 61
33675303 2021
28
Trends in Bronchopulmonary Dysplasia Among Extremely Preterm Infants in Japan, 2003-2016. 61
33246013 2021
29
Hypertrophic cardiomyopathy in an extremely preterm infant. 61
33687939 2021
30
Evaluating the severity of aortic coarctation in infants using anatomic features measured on CTA. 61
32885294 2021
31
[Clinical effect of multi-oil fat emulsion for parenteral nutrition support in extremely low birth weight infants]. 61
33691914 2021
32
Outcomes of outborn very-low-birth-weight infants in Japan. 61
32788390 2021
33
Transcription factor AP-2beta in development, differentiation and tumorigenesis. 61
33720400 2021
34
Accuracy of Fetal Echocardiography in Defining Pulmonary Artery Anatomy and Source of Pulmonary Blood flow in Pulmonary Atresia with Ventricular Septal Defect (PA/VSD). 61
33683415 2021
35
Maternal and Perinatal Factors Associated With Twin Pregnancies in Ecuador. 61
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36
Absent pulmonary valve syndrome with tetralogy of fallot and patent ductus arteriosus at 14 weeks of gestation and follow-up 2 weeks later: Case report and review of literature. 61
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37
High versus standard volume enteral feeds to promote growth in preterm or low birth weight infants. 61
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38
Extrauterine growth restriction in extremely preterm infants based on the Intergrowth-21st Project Preterm Postnatal Follow-up Study growth charts and the Fenton growth charts. 61
32909099 2021
39
Transcatheter patent ductus arteriosus closure: what have we learned after over 25 years? A single--center experience with 1036 patients. 61
33599452 2021
40
Fate of the Left Pulmonary Artery and Thoracic Aorta After Transcatheter Patent Ductus Arteriosus Closure in Low Birth Weight Premature Infants. 61
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41
Bedside cardiopulmonary ultrasonography evaluates lung water content in very low-weight preterm neonates with patent ductus arteriosus. 61
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42
Aminoglycosides were associated with higher rates of surgical patent ductus arteriosus closure in preterm infants. 61
32810301 2021
43
Clinical features and outcome of dogs and cats with bidirectional and continuous right-to-left shunting patent ductus arteriosus. 61
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44
Ibuprofen enantiomers in premature neonates with patent ductus arteriosus: Preliminary data on an unexpected pharmacokinetic profile of S(+)-ibuprofen. 61
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45
Intravenous paracetamol in comparison with ibuprofen for the treatment of patent ductus arteriosus in preterm infants: a randomized controlled trial. 61
32888085 2021
46
Patent ductus arteriosus, tracheal ventilation, and the risk of bronchopulmonary dysplasia. 61
33790415 2021
47
The relationship between platelet indices and patent ductus arteriosus in preterm infants: a systematic review and meta-analysis. 61
32949292 2021
48
Percutaneous Closure of Patent Ductus Arteriosus in Infants 1.5 kg or Less: A Meta-Analysis. 61
33098843 2021
49
High prevalence of a linear valve-like structure on CT at the pulmonary artery terminus of patent ductus arteriosus in adult patients, mimicking endarteritis. 61
33219826 2021
50
Long-term outcomes of percutaneous closure of patent ductus arteriosus associated with unilateral absence of a pulmonary artery. 61
33738816 2021
Sources

Variations for Patent Ductus Arteriosus 1

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ClinVar genetic disease variations for Patent Ductus Arteriosus 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic 400 rs121918130 GRCh37: 9:139327634-139327634
GRCh38: 9:136433182-136433182
2 ABCC9 NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
3 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic 13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
4 HYDIN NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) SNV Likely pathogenic 598961 rs1567744830 GRCh37: 16:70908340-70908340
GRCh38: 16:70874437-70874437
5 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Uncertain significance 5302 rs34557412 GRCh37: 17:16852187-16852187
GRCh38: 17:16948873-16948873
6 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain significance 167818 rs142594314 GRCh37: 1:116206600-116206600
GRCh38: 1:115663979-115663979
7 HYDIN NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn) SNV Uncertain significance 598962 rs748644598 GRCh37: 16:70977753-70977753
GRCh38: 16:70943850-70943850
Sources

Expression for Patent Ductus Arteriosus 1

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Search GEO for disease gene expression data for Patent Ductus Arteriosus 1.
Sources

Pathways for Patent Ductus Arteriosus 1

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Pathways related to Patent Ductus Arteriosus 1 according to KEGG:

36
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

Pathways related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.53 TBX5 NKX2-5 MYH11 GATA4 ACTA2 ABCC9
2
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.15 TBX5 NPPB NKX2-5 GATA4
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.73 TBX5 NKX2-5 GATA4
4
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.54 TBX5 NKX2-5 GATA4 ACTA2
5
Cardiac Progenitor Differentiation 1
10.98 TBX5 TBX20 NKX2-5 GATA4
6
Heart Development 1
10.68 TBX5 TBX20 PTPN11 NKX2-5 GATA4
7
Cardiomyocyte Differentiation through BMP Receptors 63
10.67 NPPB NKX2-5 GATA4
8
HOP Signaling 63
10.15 NKX2-5 GATA4
Sources

GO Terms for Patent Ductus Arteriosus 1

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Cellular components related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.1 TBX5 PTPN11 NPPB NKX2-5 CFHR2 ACTA2

Biological processes related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 TFAP2B TFAP2A TBX5 TBX20 NKX2-5 GATA4
2 heart development GO:0007507 9.73 TBX5 PTPN11 NKX2-5 FBN1
3 muscle contraction GO:0006936 9.7 TBX20 MYH11 ACTA2
4 embryonic heart tube development GO:0035050 9.54 TBX20 NKX2-5
5 heart looping GO:0001947 9.54 TBX20 NKX2-5 GATA4
6 positive regulation of urine volume GO:0035810 9.51 TFAP2B NPPB
7 aortic valve morphogenesis GO:0003180 9.5 TBX20 NKX2-5 GATA4
8 cardiac right ventricle morphogenesis GO:0003215 9.49 TBX20 GATA4
9 cardiac muscle tissue morphogenesis GO:0055008 9.48 TBX20 NKX2-5
10 endocardial cushion development GO:0003197 9.46 TBX5 GATA4
11 forelimb morphogenesis GO:0035136 9.4 TFAP2B TBX5
12 cardiac muscle cell differentiation GO:0055007 9.33 TBX5 NKX2-5 GATA4
13 positive regulation of cardioblast differentiation GO:0051891 9.13 TBX5 NKX2-5 GATA4
14 atrial septum morphogenesis GO:0060413 8.92 TBX5 TBX20 NKX2-5 GATA4

Molecular functions related to Patent Ductus Arteriosus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.77 TFAP2B TFAP2A TBX20 NKX2-5 GATA4
2 sequence-specific DNA binding GO:0043565 9.65 TFAP2B TFAP2A TBX5 NKX2-5 GATA4
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.55 TFAP2B TFAP2A TBX5 TBX20 GATA4
4 DNA-binding transcription factor activity GO:0003700 9.43 TFAP2B TFAP2A TBX5 TBX20 NKX2-5 GATA4
5 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.1 TFAP2B TFAP2A TBX5 TBX20 NKX2-5 GATA4
Sources

Sources for Patent Ductus Arteriosus 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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