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MCID: PRS030
MIFTS: 50

Persistent Fetal Circulation Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Persistent Fetal Circulation Syndrome

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MalaCards integrated aliases for Persistent Fetal Circulation Syndrome:

Name: Persistent Fetal Circulation Syndrome 12 29 6 44 15 17 70
Persistent Fetal Circulation 12 32
Fetal Circulation 12 15
Congenital Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 12
Persistent Pulmonary Hypertension of the Newborn 12
Persistent Foetal Circulation Syndrome 12
Persistent Foetal Circulation 12

Classifications:

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


External Ids:

Disease Ontology 12 DOID:13042
ICD9CM 34 747.83
MeSH 44 D010547
NCIt 50 C85006
SNOMED-CT 67 35604006
ICD10 32 P29.3
UMLS 70 C0031190
Sources

Summaries for Persistent Fetal Circulation Syndrome

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MalaCards based summary : Persistent Fetal Circulation Syndrome, also known as persistent fetal circulation, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and eclampsia. An important gene associated with Persistent Fetal Circulation Syndrome is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are Relaxin signaling pathway and Prolactin Signaling Pathway. The drugs Sodium citrate and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related phenotypes are cardiovascular system and digestive/alimentary

Wikipedia : 73 Persistent fetal circulation is a condition caused by a failure in the systemic circulation and... more...

Sources

Related Diseases for Persistent Fetal Circulation Syndrome

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Diseases related to Persistent Fetal Circulation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 32.8 FOXF1 FENDRR
2 eclampsia 31.0 PGF OXT NOS3 EDN1 ALB
3 placental insufficiency 31.0 PGF MIR520A LEP IL6
4 vascular disease 30.8 NOS3 LEP INS IL6 EDN1 ALB
5 tricuspid valve insufficiency 30.8 PDE5A EDN1 ALB
6 aspiration pneumonia 30.8 INS IL6 ALB
7 diaphragmatic hernia, congenital 30.8 PDE5A NOS3 FOXF1 EDN1
8 inherited metabolic disorder 30.7 POMC LEP INS IL6 ALB
9 severe pre-eclampsia 30.7 PGF LEP ALB
10 oligohydramnios 30.6 PGF OXT EDN1
11 patent ductus arteriosus 1 30.6 FOXF1 EDN1 ALB
12 pre-eclampsia 30.5 PGF PDE5A OXT NOS3 LEP INS
13 pain agnosia 30.5 POMC OXT IL6 ALB
14 pulmonary hypertension 30.5 PDE5A NOS3 IL6 FOXF1 EDN1 ALB
15 hellp syndrome 30.5 PGF LEP IL6 EDN1
16 heart disease 30.4 POMC PGF PDE5A NOS3 LEP INS
17 gestational diabetes 30.4 PGF LEP INS IL6 CSH2 CSH1
18 choriocarcinoma 30.3 IGF2 HSD11B2 CSH2 CSH1
19 meconium aspiration syndrome 30.3 PDE5A OXT IL6 EDN1
20 asphyxia neonatorum 30.3 OXT INS IL6 ALB
21 hyperinsulinism 30.2 LEP INS IGF2 EDN1
22 arteriosclerosis 30.2 NOS3 INS IL6 EDN1
23 aspiration pneumonitis 30.2 OXT ALB
24 diabetes mellitus 30.2 POMC PGF PDE5A NOS3 LEP INS
25 congestive heart failure 30.1 PDE5A NOS3 INS IL6 EDN1 ALB
26 anxiety 30.1 POMC OXT INS IL6
27 placenta disease 29.9 PGF OXT MIR520A INS IL6 IGF2
28 fetal erythroblastosis 11.0
29 lung disease 10.7
30 testicular trophoblastic tumor 10.6 CSH2 CSH1
31 gestational ovarian choriocarcinoma 10.5 CSH2 CSH1
32 choriocarcinoma of the testis 10.5 CSH2 CSH1
33 choriocarcinoma of ovary 10.5 CSH2 CSH1
34 subacute glomerulonephritis 10.5 POMC ALB
35 non-gestational ovarian choriocarcinoma 10.5 CSH2 CSH1
36 ankylosing spondylitis 3 10.5 FCGRT ALB
37 acute adrenal insufficiency 10.5 POMC IL6
38 supine hypotensive syndrome 10.5 OXT CSH2 CSH1
39 hypertensive encephalopathy 10.5 PGF EDN1 ALB
40 chronic pulmonary heart disease 10.5 PDE5A NOS3 EDN1
41 hypothalamic obesity 10.5 LEP INS
42 lipedema 10.5 LEP IL6
43 tricuspid valve disease 10.5 PDE5A EDN1 ALB
44 rh isoimmunization 10.5 CSH2 CSH1
45 benign essential hypertension 10.5 POMC INS ALB
46 syndromic obesity 10.5 POMC LEP
47 hepatopulmonary syndrome 10.5 NOS3 EDN1 ALB
48 severe nonproliferative diabetic retinopathy 10.5 PGF INS ALB
49 steroid inherited metabolic disorder 10.5 POMC INS HSD11B2
50 graves disease 1 10.5 POMC INS ALB

Graphical network of the top 20 diseases related to Persistent Fetal Circulation Syndrome:



Diseases related to Persistent Fetal Circulation Syndrome
Sources

Symptoms & Phenotypes for Persistent Fetal Circulation Syndrome

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MGI Mouse Phenotypes related to Persistent Fetal Circulation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ALB EDN1 FOXF1 HSD11B2 IGF2 IL6
2 digestive/alimentary MP:0005381 10.02 ALB EDN1 FOXF1 HSD11B2 IGF2 IL6
3 endocrine/exocrine gland MP:0005379 9.96 ALB EDN1 FOXF1 IGF2 IL6 INS
4 liver/biliary system MP:0005370 9.76 ALB FOXF1 IGF2 IL6 INS LEP
5 muscle MP:0005369 9.61 ALB EDN1 FOXF1 HSD11B2 IGF2 IL6
6 renal/urinary system MP:0005367 9.32 ALB EDN1 HSD11B2 IGF2 IL6 INS
Sources

Drugs & Therapeutics for Persistent Fetal Circulation Syndrome

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Drugs for Persistent Fetal Circulation Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
6 Pharmaceutical Solutions Phase 4
7 Citrate Phase 4
8 Phosphodiesterase Inhibitors Phase 4
9 Phosphodiesterase 5 Inhibitors Phase 4
10 Sildenafil Citrate Phase 4 171599-83-0
11
Ephedrine Approved Phase 2, Phase 3 299-42-3 9294
12
Phenylephrine Approved Phase 2, Phase 3 59-42-7 6041
13
Oxymetazoline Approved, Investigational Phase 2, Phase 3 1491-59-4 4636
14
Pseudoephedrine Approved Phase 2, Phase 3 90-82-4 7028
15
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
16 Cardiotonic Agents Phase 2, Phase 3
17 Adrenergic alpha-Agonists Phase 2, Phase 3
18 Adrenergic Agonists Phase 2, Phase 3
19 Central Nervous System Stimulants Phase 2, Phase 3
20 Sympathomimetics Phase 2, Phase 3
21 Mydriatics Phase 2, Phase 3
22 Adrenergic Agents Phase 2, Phase 3
23 Nasal Decongestants Phase 2, Phase 3
24 Vasoconstrictor Agents Phase 2, Phase 3
25 Antihypertensive Agents Phase 3
26 Endothelin Receptor Antagonists Phase 3
27
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 1, Phase 2 7487-88-9 24083
28
Epoprostenol Approved Phase 2 35121-78-9, 61849-14-7 5282411 5280427
29
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
30
Milrinone Approved Phase 2 78415-72-2 4197
31
Tezosentan Investigational Phase 2 180384-57-0
32 Anti-Arrhythmia Agents Phase 1, Phase 2
33 Anesthetics Phase 1, Phase 2
34 Anticonvulsants Phase 1, Phase 2
35 Analgesics Phase 1, Phase 2
36 Tocolytic Agents Phase 1, Phase 2
37 calcium channel blockers Phase 1, Phase 2
38 Calcium, Dietary Phase 1, Phase 2
39 Antidepressive Agents, Tricyclic Phase 2
40 Phosphodiesterase 3 Inhibitors Phase 2
41
Calcium Nutraceutical Phase 1, Phase 2 7440-70-2 271
42
Metaraminol Approved, Investigational 54-49-9 5906
43
Carbon monoxide Approved, Investigational 630-08-0 281
44
Tadalafil Approved, Investigational 171596-29-5 110635
45 Immunoglobulin G
46 Immunoglobulins, Intravenous
47 Immunoglobulins
48 Antibodies
49 Liver Extracts
50 Hormones

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Oral Sildenafil in Persistent Pulmonary Hypertension of Neonates Secondary to Meconium Aspiration Syndrome: A Randomized Placebo Controlled Trial Completed NCT01757782 Phase 4 Oral Sildenafil;Placebo (distilled water)
2 Inhaled Nitric Oxide in Neonates With Elevated A-aDO2 Gradients Not Requiring Mechanical Ventilation Completed NCT00732537 Phase 4 inhaled Nitric Oxide;Oxygen (>90% by hood) - standard therapy
3 Effect of Early iNO on Oxidative Stress, Vascular Tone and Inflammation in Term and Late-Preterm Infants With Hypoxic Respiratory Failure Withdrawn NCT01891500 Phase 4 Inhaled nitric oxide;Nitrogen Gas;Crossover iNO
4 Early Combined Use of Inhaled Nitric Oxide and Oral Sildenafil on the Outcome of Pulmonary Hypertension in New Born Infants Unknown status NCT01558466 Phase 3 Sildenafil;diluent
5 A MULTI-CENTRE, RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLIND, TWO-ARMED, PARALLEL GROUP STUDY TO EVALUATE EFFICACY AND SAFETY OF IV SILDENAFIL IN THE TREATMENT OF NEONATES WITH PERSISTENT PULMONARY HYPERTENSION OF THE NEWBORN (PPHN) OR HYPOXIC RESPIRATORY FAILURE AND AT RISK FOR PPHN, WITH A LONG TERM FOLLOW-UP INVESTIGATION OF DEVELOPMENTAL PROGRESS 12 AND 24 MONTHS AFTER COMPLETION OF STUDY TREATMENT Completed NCT01720524 Phase 3 placebo;iv sildenafil
6 The Effect of Vaginal Progestrone on Fetal and Maternal Doppler Indices Completed NCT03292939 Phase 2, Phase 3
7 Ephedrine Versus Phenylephrine Infusion for Prevention of Spinal Hypotension During Cesarean Section: Effect on Maternal Cardiodynamics and Fetal Circulation: Randomized Double-blind Study Completed NCT03047109 Phase 2, Phase 3 Phenylephrine;Ephedrine
8 Multicenter, Double-blind, Placebo-controlled, Randomized, Prospective Study of Bosentan as Adjunctive Therapy to Inhaled Nitric Oxide in the Management of Persistent Pulmonary Hypertension of the Newborn (PPHN) Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
9 Early Inhaled Nitric Oxide Therapy in Term and Near Term Infants With Respiratory Failure Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
10 The Randomized Inhaled Nitric Oxide Study (NINOS) in Full-Term and Nearly Full-Term Infants With Hypoxic Respiratory Failure Terminated NCT00005776 Phase 3 Inhaled nitric oxide;Placebo
11 Nebulized Magnesium Sulfate for Treatment of Persistent Pulmonary Hypertension of The Newborn Completed NCT04328636 Phase 1, Phase 2 Nebulized Magnesium Sulfate;Intravenous Magnesium Sulfate
12 Intravenous Remodulin (Treprostinil) as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn: A Randomized, Placebo-Controlled, Safety and Efficacy Study Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
13 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
14 A Single Arm Single Centre Study To Investigate Safety And Efficacy Of Sildenafil In Near Term And Term Newborns With Persistent Pulmonary Hypertension Of The Newborn (PPHN) Terminated NCT01069861 Phase 2 sildanefil
15 An Open Label Single Arm, Single Centre Study to Investigate the Safety and Efficacy of IV Sildenafil in Neonates With Persistent Pulmonary Hypertension of the Newborn (PPHN) Withdrawn NCT01360671 Phase 2 Sildenafil
16 A Randomized, Double Blind, Placebo-controlled Pilot Study of the Safety and Effective Dosing of Inhaled Iloprost in Pediatric Patients With Pulmonary Hypertension Treated With Inhaled Nitric Oxide Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
17 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
18 Examination of Perfusion Index in Term and Preterm Newborns Through Plethismography Unknown status NCT02380040
19 Compare of Continued Nitro Oxide Inhalation and Nitro Oxide Inhalation Continued With Oral Sildenafil on Treatment of Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 NO inhalation;NO inhalation continued with sildenafil
20 Examination of Diaplacental Transfer of IgG-antibodies Against Human Cytomegalovirus (HCMV) and Varicella-Zoster-Virus (VZV) at Premature and Mature Newborns Unknown status NCT02689700
21 Ephedrine, Phenylephrine and Metaraminol Effects on Maternal Cardiac Output, Uterine Blood Flow and Fetal Circulation in Patients With Preeclampsia Under Spinal Anesthesia for Cesarean Unknown status NCT02245191 Ephedrine;Phenylephrine;Metaraminol
22 A Feasibility Study to Consider the Relationship Between Markers of Red Cell Damage, Inflammation and the Recovery Process of Newborns Requiring Extracorporeal Membrane Oxygenation (ECMO) for Persistent Pulmonary Hypertension of the Newborn (PPHN): Mi-ECMO Completed NCT02940327
23 NO Need to Ventilate: A Trial of Non-invasive iNO in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 iNO
24 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
25 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
26 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
27 Antibody Secreting Cell (ASC) and Immunoactive Protein Profiles in Neonates on Extracorporeal Membrane Oxygenation (ECMO) Completed NCT00371241
28 Prostaglandin G/H Synthase-1 (PTGS1) Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn (PPHN) Recruiting NCT00710177
29 Longitudinal Study of Intra-Uterine Growth Restriction (IUGR) Recruiting NCT02382601
30 Assessment of Effects of Maternal Smoking on Fetal Liver Circulation With Ultrasonography Active, not recruiting NCT04721782
31 Population Pharmacokinetics and Dosage Individualization of Bosentan, Sildenafil and Tadalafil in Persistent Pulmonary Hypertension of the Newborn Not yet recruiting NCT04379180 Bosentan Tablets;Sildenafil Tablet;Tadalafil Tablets
32 Doppler Ultrasonographic Assessment of Fetal Internal Thoracic Artery Indexes Not yet recruiting NCT04686240
33 Milrinone Pharmacokinetics and Pharmacodynamics in Newborns With Persistent Pulmonary Hypertension of the Newborn - a Pilot Study to Enable a Randomized Trial of Intervention Terminated NCT01088997 Milrinone Lactate
34 Clinical Significance of N-Terminal Pro-Brain Natriuretic Peptide Levels in Persistent Pulmonary Hypertension Terminated NCT00443859

Search NIH Clinical Center for Persistent Fetal Circulation Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Tolazoline
Tolazoline Hydrochloride

Cochrane evidence based reviews: persistent fetal circulation syndrome

Sources

Genetic Tests for Persistent Fetal Circulation Syndrome

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Genetic tests related to Persistent Fetal Circulation Syndrome:

# Genetic test Affiliating Genes
1 Persistent Fetal Circulation Syndrome 29 FOXF1
Sources

Anatomical Context for Persistent Fetal Circulation Syndrome

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MalaCards organs/tissues related to Persistent Fetal Circulation Syndrome:

40
Heart, Liver, Brain, Fetal Liver, Lung, Fetal Lung, Bone Marrow
Sources

Publications for Persistent Fetal Circulation Syndrome

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Articles related to Persistent Fetal Circulation Syndrome:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. 6
30380203 2018
2
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia. 6
28469849 2017
3
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. 6
27439648 2016
4
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 6
23505205 2013
5
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. 6
19500772 2009
6
Expanding the phenotype of alveolar capillary dysplasia (ACD). 6
15520767 2004
7
Two autopsy cases of siblings with alveolar capillary dysplasia: clinical and post-mortem issues. 61
31512071 2020
8
Are Cardiac Anomalies and Persistent Fetal Circulation a Risk Factor for Cardiovascular Events During Minimally Invasive Surgery in Neonates? 61
30994398 2019
9
Impact of circle of Willis anatomy in traumatic blunt cerebrovascular injury-related stroke. 61
29766090 2017
10
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. 61
27316244 2016
11
Ruptured Tricuspid Valve Papillary Muscle in a Neonate with Intractable Persistent Fetal Circulation. 61
26240590 2015
12
[Correction of Acidosis in Neonatal Intensive-care Medicine: A National Survey]. 61
25811742 2015
13
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 61
23307537 2013
14
Neonates presenting with temperature symptoms: role in the diagnosis of early onset sepsis. 61
22299645 2012
15
[Persistent fetal vasculature syndrome--clinical image and diagnostic difficulties]. 61
22384655 2011
16
Implication of pulse oxymetry screening for detection of congenital heart defects. 61
20458668 2010
17
Changes in pulmonary arterial pressure in term-infants with hypoxic-ischemic encephalopathy. 61
19419507 2009
18
Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. 61
19559324 2009
19
Fibromuscular dysplasia with carotid artery dissection presenting as an isolated hemianopsia. 61
17689408 2007
20
Pulmonary arterial hypertension. 61
16581695 2006
21
Pulmonary stabilisation followed by delayed surgery results in favourable outcome in congenital cystic lung lesions with pulmonary hypertension. 61
16125963 2005
22
Increased incidence of cardiac anomalies in pregnancies complicated by gastroschisis. 61
16157146 2005
23
Preoperative ECMO in transposition of the great arteries with persistent pulmonary hypertension. 61
15919337 2005
24
Factors affecting short-term mortality in very low birth weight infants in Japan. 61
15673972 2005
25
Neonatal post-intubation subglottic stenosis. 61
15535351 2004
26
Prostaglandin E1 treatment in patent ductus arteriosus dependent congenital heart defects. 61
15346826 2004
27
[Echocardiography is a useful tool in neonatal intensive care settings: a Lebanese experience]. 61
15623132 2003
28
Extracorporeal life support for severe adult respiratory failure. 61
17021448 2003
29
Acute respiratory disorders in the newborn at the Mount Hope Women's Hospital, Trinidad. 61
12806750 2003
30
Development of disposable self-regulating blood pumps and automatically-controlled portable extracorporeal membrane oxygenation systems for neonatal extracorporeal membrane oxygenation. 61
12580779 2003
31
Persistent fetal circulation. 61
20084150 2001
32
Oxidative stress and increased type-IV collagenase levels in bronchoalveolar lavage fluid from newborn babies. 61
11420415 2001
33
Persistent pulmonary hypertension of the newborn: experience in a single institution. 61
11355072 2001
34
Beat-to-beat changes in stroke volume precede the general circulatory effects of mechanical ventilation: a case report. 61
11178225 2001
35
The effects of dopamine and epinephrine on hemodynamics and oxygen metabolism in hypoxic anesthetized piglets. 61
11353933 2001
36
Acute respiratory failure associated with intrathoracic masses in neonates. 61
10591558 1999
37
Cytokines, pulmonary surfactant and consequences of intrauterine infection. 61
10393386 1999
38
Active-phase labor arrest: oxytocin augmentation for at least 4 hours. 61
10074971 1999
39
Management of prenatally diagnosed congenital cystic adenomatoid malformation of the lung. 61
10207706 1999
40
Current obstetrical practice and umbilical cord prolapse. 61
10774764 1999
41
Treatment of inflammatory rheumatic disorders in pregnancy: what are the safest treatment options? 61
9825952 1998
42
Economic evaluation and randomised controlled trial of extracorporeal membrane oxygenation: UK collaborative trial. The Extracorporeal Membrane Oxygenation Economics Working Group. 61
9756807 1998
43
Hypoxic pulmonary vasoconstriction is impaired in rats with nitrofen-induced congenital diaphragmatic hernia. 61
9766353 1998
44
Pulmonary arterioles from rats with congenital diaphragmatic hernias are hypoplastic but not hyperresponsive. 61
9766355 1998
45
A case of multiple aneurysms of the vein of Galen with heart failure due to persistent fetal circulation. 61
28921251 1998
46
Fibrous fusion between the liver and the lung: an unusual complication of right congenital diaphragmatic hernia. 61
9607495 1998
47
Alpha-smooth muscle actin distribution in the pulmonary vasculature comparing hypoplastic and normal fetal lungs. 61
9566278 1998
48
Echocardiographic prediction of neonatal ECMO outcome. 61
9175523 1997
49
[Pulmonary causes of hypoxia in premature infants and its therapeutic possibilities]. 61
9244887 1997
50
[Premature labor, determination of fetal lung maturity and medicamentous induction of lung maturation]. 61
9410531 1997
Sources

Variations for Persistent Fetal Circulation Syndrome

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ClinVar genetic disease variations for Persistent Fetal Circulation Syndrome:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXF1 NM_001451.3(FOXF1):c.683_690GCGGCGGC[1] (p.Ala231fs) Microsatellite Pathogenic 692054 rs1597291554 GRCh37: 16:86544858-86544865
GRCh38: 16:86511252-86511259
2 FOXF1 NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) Deletion Pathogenic 800364 rs1597292524 GRCh37: 16:86546581-86546582
GRCh38: 16:86512975-86512976
3 FOXF1 NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) SNV Pathogenic 800365 rs1597291206 GRCh37: 16:86544320-86544320
GRCh38: 16:86510714-86510714
4 FOXF1 NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) SNV Pathogenic 800366 rs376766270 GRCh37: 16:86544264-86544264
GRCh38: 16:86510658-86510658
5 FOXF1 NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) Deletion Pathogenic 800367 rs1597291722 GRCh37: 16:86545040-86545047
GRCh38: 16:86511434-86511441
6 FOXF1 NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) Duplication Pathogenic 800368 rs1597291767 GRCh37: 16:86545071-86545072
GRCh38: 16:86511465-86511466
7 FOXF1 NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) SNV Pathogenic 800369 rs1597291235 GRCh37: 16:86544366-86544366
GRCh38: 16:86510760-86510760
8 FOXF1 NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) SNV Pathogenic 800370 rs1597292620 GRCh37: 16:86546690-86546690
GRCh38: 16:86513084-86513084
9 FOXF1 NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) SNV Pathogenic 800371 rs1597291255 GRCh37: 16:86544396-86544396
GRCh38: 16:86510790-86510790
10 FOXF1 NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) SNV Pathogenic 800372 rs1481006723 GRCh37: 16:86544714-86544714
GRCh38: 16:86511108-86511108
11 FOXF1 NM_001451.3(FOXF1):c.294C>A (p.His98Gln) SNV Pathogenic 800373 rs1597291300 GRCh37: 16:86544469-86544469
GRCh38: 16:86510863-86510863
12 FOXF1 NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) SNV Pathogenic 800374 rs1597291719 GRCh37: 16:86545037-86545037
GRCh38: 16:86511431-86511431
13 FOXF1 NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) SNV Pathogenic 800375 rs1597291318 GRCh37: 16:86544491-86544491
GRCh38: 16:86510885-86510885
14 FOXF1 NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) Deletion Pathogenic 800376 rs1597291710 GRCh37: 16:86545024-86545025
GRCh38: 16:86511418-86511419
15 FOXF1 NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) SNV Pathogenic 800377 rs1597291206 GRCh37: 16:86544320-86544320
GRCh38: 16:86510714-86510714
16 overlap with 22 genes GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) copy number loss Pathogenic 813309 GRCh37: 16:84872102-87678641
GRCh38:
17 FOXF1 NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) SNV Pathogenic 8462 rs121909336 GRCh37: 16:86544400-86544400
GRCh38: 16:86510794-86510794
18 FOXF1 NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) SNV Pathogenic 8463 rs121909337 GRCh37: 16:86546689-86546689
GRCh38: 16:86513083-86513083
19 FOXF1 FOXF1, 1-BP DUP, 775T Duplication Pathogenic 8464 GRCh37:
GRCh38:
20 FOXF1 FOXF1, 2-BP DEL, 956TT Deletion Pathogenic 8465 GRCh37:
GRCh38:
21 FOXF1 NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) Duplication Pathogenic 916530 GRCh37: 16:86546605-86546606
GRCh38: 16:86512999-86513000
22 FOXF1 NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) SNV Pathogenic 916531 GRCh37: 16:86544428-86544428
GRCh38: 16:86510822-86510822
23 FOXF1 NC_000016.9:g.86243180_87703229del Deletion Pathogenic 869495 GRCh37:
GRCh38:
24 FENDRR , FOXF1 NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) Deletion Pathogenic 973755 GRCh37: 16:86544230-86544233
GRCh38: 16:86510624-86510627
25 FOXF1 NM_001451.3(FOXF1):c.965del (p.Pro322fs) Deletion Pathogenic 975043 GRCh37: 16:86545137-86545137
GRCh38: 16:86511531-86511531
26 FOXF1 NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) SNV Pathogenic 997014 GRCh37: 16:86544477-86544477
GRCh38: 16:86510871-86510871
27 FOXF1 NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) Microsatellite Pathogenic 997015 GRCh37: 16:86544411-86544412
GRCh38: 16:86510805-86510806
28 FOXF1 NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) SNV Pathogenic 1030400 GRCh37: 16:86544843-86544843
GRCh38: 16:86511237-86511237
29 FOXF1 NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) SNV Likely pathogenic 560714 rs1567511932 GRCh37: 16:86546691-86546691
GRCh38: 16:86513085-86513085
30 overlap with 28 genes Deletion Likely pathogenic 975044 GRCh37: 16:83931797-86285776
GRCh38:
31 FOXF1 NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) SNV Likely pathogenic 975041 GRCh37: 16:86544461-86544461
GRCh38: 16:86510855-86510855
32 FOXF1 NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) SNV Likely pathogenic 975042 GRCh37: 16:86544441-86544441
GRCh38: 16:86510835-86510835
33 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) SNV Likely pathogenic 374061 rs1057518868 GRCh37: 16:86544455-86544455
GRCh38: 16:86510849-86510849
34 FOXF1 NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) SNV Likely pathogenic 869491 GRCh37: 16:86544341-86544341
GRCh38: 16:86510735-86510735
35 FOXF1 NM_001451.3(FOXF1):c.950del (p.Asn317fs) Deletion Likely pathogenic 869492 GRCh37: 16:86545124-86545124
GRCh38: 16:86511518-86511518
36 FOXF1 NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) SNV Likely pathogenic 816907 rs1597291380 GRCh37: 16:86544588-86544588
GRCh38: 16:86510982-86510982
37 FOXF1 NM_001451.3(FOXF1):c.*1176del Deletion Conflicting interpretations of pathogenicity 320830 rs397854726 GRCh37: 16:86547856-86547856
GRCh38: 16:86514250-86514250
38 FOXF1 NM_001451.3(FOXF1):c.*1298dup Duplication Uncertain significance 320835 rs886052386 GRCh37: 16:86547982-86547983
GRCh38: 16:86514376-86514377
39 FOXF1 NM_001451.3(FOXF1):c.*471_*472dup Duplication Uncertain significance 320810 rs56130003 GRCh37: 16:86547153-86547154
GRCh38: 16:86513547-86513548
40 FOXF1 NM_001451.3(FOXF1):c.*123dup Duplication Uncertain significance 320800 rs886052379 GRCh37: 16:86546810-86546811
GRCh38: 16:86513204-86513205
41 FOXF1 NM_001451.3(FOXF1):c.*309_*310insT Insertion Uncertain significance 320803 rs11392376 GRCh37: 16:86547000-86547001
GRCh38: 16:86513394-86513395
42 FOXF1 NM_001451.3(FOXF1):c.60_62del (p.Gly23del) Deletion Uncertain significance 320787 rs757668134 GRCh37: 16:86544233-86544235
GRCh38: 16:86510627-86510629
43 FOXF1 NM_001451.3(FOXF1):c.*310_*311insT Insertion Uncertain significance 320804 rs67178865 GRCh37: 16:86547001-86547002
GRCh38: 16:86513395-86513396
44 FOXF1 NM_001451.3(FOXF1):c.636G>C (p.Ser212=) SNV Uncertain significance 689448 rs776649998 GRCh37: 16:86544811-86544811
GRCh38: 16:86511205-86511205
45 FOXF1 NM_001451.3(FOXF1):c.-2C>T SNV Uncertain significance 1033844 GRCh37: 16:86544174-86544174
GRCh38: 16:86510568-86510568
46 FOXF1 NM_001451.3(FOXF1):c.969C>A (p.Ala323=) SNV Likely benign 734939 rs144309953 GRCh37: 16:86545144-86545144
GRCh38: 16:86511538-86511538
47 FOXF1 NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) Indel Likely benign 977105 GRCh37: 16:86544955-86544956
GRCh38: 16:86511349-86511350
48 FOXF1 NM_001451.3(FOXF1):c.579C>A (p.Gly193=) SNV Likely benign 977106 GRCh37: 16:86544754-86544754
GRCh38: 16:86511148-86511148
49 FOXF1 NM_001451.3(FOXF1):c.927G>T (p.Leu309=) SNV Likely benign 977493 GRCh37: 16:86545102-86545102
GRCh38: 16:86511496-86511496
50 FOXF1 NM_001451.3(FOXF1):c.36_38CGG[9] (p.Gly23dup) Microsatellite Likely benign 320786 rs574179816 GRCh37: 16:86544210-86544211
GRCh38: 16:86510604-86510605
Sources

Expression for Persistent Fetal Circulation Syndrome

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Search GEO for disease gene expression data for Persistent Fetal Circulation Syndrome.
Sources

Pathways for Persistent Fetal Circulation Syndrome

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Pathways related to Persistent Fetal Circulation Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Relaxin signaling pathway 36
Show member pathways
 12.43 POMC NOS3 EDN1 CSH2 CSH1
2
Prolactin Signaling Pathway 1 36
Show member pathways
 12.17 NOS3 LEP INS CSH2 CSH1
3
JAK-STAT signaling pathway 36
Show member pathways
 12.16 LEP IL6 CSH2 CSH1
4
PI3K-Akt signaling pathway 36
Show member pathways
 12 PGF NOS3 INS IL6 IGF2 CSH2
5
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.79 INS IL6 FOXF1 ALB
6
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.65 LEP INS IL6
7
HIF-1 signaling pathway 36
11.49 NOS3 INS IL6 EDN1
8
FOXA2 and FOXA3 transcription factor networks 1
11.22 INS FOXF1 ALB
9
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 10.91 POMC LEP EDN1
10
NO-dependent CFTR activation (normal and CF) 23
10.59 PDE5A NOS3
11
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.43 POMC LEP INS
Sources

GO Terms for Persistent Fetal Circulation Syndrome

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Cellular components related to Persistent Fetal Circulation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 POMC PGF OXT LEP INS IL6
2 extracellular space GO:0005615 9.4 POMC PGF OXT LEP INS IL6

Biological processes related to Persistent Fetal Circulation Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.13 POMC PGF PDE5A OXT LEP INS
2 cell-cell signaling GO:0007267 9.88 POMC PGF INS EDN1
3 cellular protein metabolic process GO:0044267 9.87 INS IL6 IGF2 ALB
4 response to hypoxia GO:0001666 9.8 PGF LEP HSD11B2 EDN1
5 female pregnancy GO:0007565 9.78 OXT LEP HSD11B2
6 response to nutrient levels GO:0031667 9.76 LEP CSH2 CSH1
7 positive regulation of MAPK cascade GO:0043410 9.76 LEP INS IL6 IGF2
8 glucose homeostasis GO:0042593 9.73 POMC LEP INS IL6
9 response to glucocorticoid GO:0051384 9.71 OXT IL6 HSD11B2
10 glucose metabolic process GO:0006006 9.7 LEP INS IGF2
11 positive regulation of cell proliferation GO:0008284 9.7 PGF MIR520A LEP INS IL6 IGF2
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.62 LEP IL6 CSH2 CSH1
13 positive regulation of renal sodium excretion GO:0035815 9.61 OXT EDN1
14 growth hormone receptor signaling pathway GO:0060396 9.6 CSH2 CSH1
15 positive regulation of growth GO:0045927 9.59 CSH2 CSH1
16 positive regulation of mitotic nuclear division GO:0045840 9.58 INS IGF2 EDN1
17 positive regulation of prostaglandin secretion GO:0032308 9.56 OXT EDN1
18 regulation of blood pressure GO:0008217 9.56 POMC NOS3 LEP EDN1
19 negative regulation of lipid storage GO:0010888 9.55 LEP IL6
20 positive regulation of insulin receptor signaling pathway GO:0046628 9.54 LEP INS IGF2
21 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.51 NOS3 EDN1
22 response to activity GO:0014823 9.26 OXT LEP IL6 EDN1
23 positive regulation of JAK-STAT cascade GO:0046427 8.92 LEP IL6 CSH2 CSH1

Molecular functions related to Persistent Fetal Circulation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.35 PGF IL6 IGF2 CSH2 CSH1
2 hormone activity GO:0005179 9.23 POMC OXT LEP INS IGF2 EDN1
3 growth hormone receptor binding GO:0005131 9.16 CSH2 CSH1
Sources

Sources for Persistent Fetal Circulation Syndrome

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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 05-Apr-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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