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MCID: PRS030
MIFTS: 45

Persistent Fetal Circulation Syndrome

Categories: Cardiovascular diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

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 44 15 73
Persistent Fetal Circulation 12 29 6
Congenital Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 12
Persistent Pulmonary Hypertension of the Newborn 12
Fetal Circulation 12

Classifications:

MalaCards categories:
Global: Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:13042
ICD10 33 P29.3 P29.30
ICD9CM 35 747.83
MeSH 44 D010547
NCIt 50 C85006
SNOMED-CT 68 35604006
UMLS 73 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 pulmonary hypertension and pre-eclampsia. An important gene associated with Persistent Fetal Circulation Syndrome is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and HIF-1-alpha transcription factor network. The drugs Nitric Oxide and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain, and related phenotypes are homeostasis/metabolism and renal/urinary system

Wikipedia : 76 Persistent fetal circulation (also called persistent pulmonary hypertension of the newborn, PPHN) is a... 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 97)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 29.6 EDN1 EDNRA NOS3 PDE5A
2 pre-eclampsia 29.2 CRH EDN1 HSD11B2 IGFBP1 NOS3 PGF
3 alveolar capillary dysplasia with misalignment of pulmonary veins 11.4
4 fetal erythroblastosis 11.0
5 hypoplastic left heart syndrome 1 10.3
6 hypoplastic left heart syndrome 10.3
7 alveolar capillary dysplasia 10.3
8 transposition of the great arteries 10.3
9 hypothalamic disease 10.2 CRH POMC
10 gangliocytoma 10.2 CRH POMC
11 pituitary carcinoma 10.2 CRH POMC
12 acth deficiency, isolated 10.2 CRH POMC
13 coronary artery vasospasm 10.2 EDN1 NOS3
14 nelson syndrome 10.2 CRH POMC
15 sheehan syndrome 10.2 CRH POMC
16 hypoadrenalism 10.2 CRH POMC
17 chronic mountain sickness 10.2 EDN1 NOS3
18 brachydactyly, type e2 10.2 EDN1 NOS3
19 acth-secreting pituitary adenoma 10.2 CRH POMC
20 fasting hypoglycemia 10.2 CRH POMC
21 vasculogenic impotence 10.2 NOS3 PDE5A
22 adrenal cortical hypofunction 10.2 CRH POMC
23 aortic coarctation 10.2 EDN1 NOS3
24 non-gestational choriocarcinoma 10.2 CSH1 IGFBP1
25 pulmonary hypertension, primary, 1 10.2 EDN1 FOXF1 PDE5A
26 perinephritis 10.2 EDN1 EDNRA
27 raynaud phenomenon 10.2 EDN1 PDE5A
28 meconium aspiration syndrome 10.2
29 mandibulofacial dysostosis with alopecia 10.2 EDN1 EDNRA
30 gestational choriocarcinoma 10.2 ABCG2 CSH1
31 orthostatic intolerance 10.2 EDN1 NOS3 POMC
32 sexual disorder 10.1 EDN1 NOS3 PDE5A
33 ischemic optic neuropathy 10.1 EDN1 NOS3 PDE5A
34 nonarteritic anterior ischemic optic neuropathy 10.1 EDN1 NOS3 PDE5A
35 impotence 10.1 EDN1 NOS3 PDE5A
36 acute chest syndrome 10.1 EDN1 NOS3
37 penile disease 10.1 NOS3 PDE5A
38 mild pre-eclampsia 10.1 IGFBP1 PGF
39 limb ischemia 10.1 EDN1 NOS3 PGF
40 disease of mental health 10.1 CRH PDE5A POMC
41 arteries, anomalies of 10.1 EDN1 NOS3 PGF
42 dowling-degos disease 1 10.1 EDN1 POMC
43 priapism 10.1 NOS3 PDE5A
44 anorexia nervosa 10.1 CRH IGFBP1 POMC
45 portal hypertension 10.1 EDN1 EDNRA NOS3
46 steroid inherited metabolic disorder 10.1 HSD11B2 POMC
47 withdrawal disorder 10.0 CRH POMC
48 autosomal dominant polycystic kidney disease 10.0 EDN1 EDNRA NOS3
49 adrenal cortex disease 10.0 CRH HSD11B2 POMC
50 adrenal gland disease 10.0 CRH HSD11B2 POMC

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 homeostasis/metabolism MP:0005376 9.65 ABCG2 CRH EDN1 EDNRA FCGRT HSD11B2
2 renal/urinary system MP:0005367 9.17 ABCG2 CRH EDN1 EDNRA HSD11B2 NOS3
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 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068
2
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 4,Phase 3
4
Adenosine Approved, Investigational Phase 4 58-61-7 60961
5
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
6
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 77-92-9 311
7 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 171599-83-0
9 Pharmaceutical Solutions Phase 4,Phase 3
10 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Free Radical Scavengers Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
19 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
23 Endothelial Growth Factors Phase 4
24 Mitogens Phase 4
25 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
26
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
27
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
29 Hormone Antagonists Phase 3,Phase 2
30 Hormones Phase 3,Phase 2
31 Estrogen Antagonists Phase 3
32 17-alpha-hydroxy-progesterone caproate Phase 3
33 Progestins Phase 3
34 Estrogens Phase 3
35 Estrogen Receptor Antagonists Phase 3
36 11-hydroxyprogesterone Phase 3
37 Caproate Phase 3
38 Antihypertensive Agents Phase 3,Phase 2
39 Endothelin Receptor Antagonists Phase 3
40
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
41
Darbepoetin alfa Approved, Investigational Phase 1, Phase 2 11096-26-7, 209810-58-2
42
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
43
Milrinone Approved Phase 2,Not Applicable 78415-72-2 4197
44 Tezosentan Investigational Phase 2 180384-57-0
45 Anti-Inflammatory Agents Phase 2
46 Betamethasone sodium phosphate Phase 2
47 Betamethasone benzoate Phase 2
48 Betamethasone Valerate Phase 2 2152-44-5
49 glucocorticoids Phase 2
50 Betamethasone-17,21-dipropionate Phase 2

Interventional clinical trials:

(show all 33)
# 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 Inhaled Nitric Oxide by Oxygen Hood in Neonates Completed NCT00732537 Phase 4 inhaled Nitric Oxide;Oxygen (>90% by hood) - standard therapy
3 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
4 Inhaled Iloprost for the Treatment of Persistent Pulmonary Hypertension in the Term and Near Term Infants. Terminated NCT00409526 Phase 4 Inhaled Iloprost
5 Sildenofil in Persistent Pulmonary Hypertension in Newborns Unknown status NCT01558466 Phase 3 Sildenafil;diluent
6 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3 17 alpha-hydroxyprogesterone caproate (17P)
7 A Study To Evaluate Safety And Efficacy Of IV Sildenafil In The Treatment Of Neonates With Persistent Pulmonary Hypertension Of The Newborn Active, not recruiting NCT01720524 Phase 3 placebo;iv sildenafil
8 Persistent Pulmonary Hypertension of the Newborn Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
9 Inhaled Nitric Oxide Study for Respiratory Failure in Newborns Terminated NCT00005776 Phase 3 Inhaled nitric oxide;Placebo
10 Early Inhaled Nitric Oxide for Respiratory Failure in Newborns Terminated NCT00005773 Phase 3 Inhaled Nitric Oxide;Standard iNO therapy
11 Efficacy of Antenatal Steroids in Reducing Respiratory Morbidities in Late Preterm Infants Unknown status NCT01206946 Phase 2 Betamethasone
12 Darbe Administration in Newborns Undergoing Cooling for Encephalopathy Completed NCT01471015 Phase 1, Phase 2 Darbepoetin alfa;Darbepoetin alfa;Placebo
13 Remodulin as Add-on Therapy for the Treatment of Persistent Pulmonary Hypertension of the Newborn Recruiting NCT02261883 Phase 2 IV Remodulin;Placebo
14 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
15 Study To Investigate Safety And Efficacy Of Sildenafil In The Newborns With Persistent Pulmonary Hypertension (PPHN) Terminated NCT01069861 Phase 2 sildanefil
16 IV Sildenafil Persistent Pulmonary Hypertension Of The Newborn Withdrawn NCT01360671 Phase 2 Sildenafil
17 Inhaled Iloprost as an Adjunct to Inhaled Nitric Oxide in Pediatric Critical Care Patients Withdrawn NCT00981591 Phase 1, Phase 2 Iloprost;Placebo
18 Inhaled PGE1 in Neonatal Hypoxemic Respiratory Failure Withdrawn NCT00598429 Phase 2 Inhaled Prostaglandin E1
19 Pharmacokinetics of Sildenafil in Premature Infants Completed NCT01670136 Phase 1 1 dose of sildenafil
20 Nitro Oxide Inhalation Continued With Sildenafil on Neonatal Persistent Pulmonary Hypertension Unknown status NCT01373749 Not Applicable NO inhalation;NO inhalation continued with sildenafil
21 Plethismographic Perfusion Index in Neonates Unknown status NCT02380040
22 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
23 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
24 NO Need to Ventilate: A Trial of Non-invasive Inhaled Nitric Oxide in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 Not Applicable iNO
25 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
26 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
27 A Non-Interventional Follow Up Study For Subjects Who Received Sildenafil for Persistent Pulmonary Hypertension of the Newborn (PPHN) Completed NCT01801982
28 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
29 PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn Recruiting NCT00710177
30 Markers of Inflammation and Lung Recovery in ECMO Patients for PPHN Recruiting NCT02940327
31 Evaluation of the Prevalence of Persistent Pulmonary Hypertension in Neonates Not yet recruiting NCT03499418
32 Pharmacokinetic Study of Milrinone in Babies With Persistent Pulmonary Hypertension of the Newborn Terminated NCT01088997 Not Applicable Milrinone Lactate
33 N-Terminal Pro-brain Natriuretic Peptide Hormone and Persistent Pulmonary Hypertension Terminated NCT00443859

Search NIH Clinical Center for Persistent Fetal Circulation Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 FOXF1
Sources

Anatomical Context for Persistent Fetal Circulation Syndrome

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MalaCards organs/tissues related to Persistent Fetal Circulation Syndrome:

41
Lung, Heart, Brain, Kidney, Endothelial, Cortex, Adrenal Gland
Sources

Publications for Persistent Fetal Circulation Syndrome

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Articles related to Persistent Fetal Circulation Syndrome:

(show all 40)
# Title Authors Year
1
Ruptured Tricuspid Valve Papillary Muscle in a Neonate with Intractable Persistent Fetal Circulation. ( 26240590 )
2015
2
Persistent fetal circulation. ( 20084150 )
2001
3
A case of multiple aneurysms of the vein of Galen with heart failure due to persistent fetal circulation. ( 28921251 )
1998
4
Professor Charles D Meigs (1792-1869) of Philadelphia and persistent fetal circulation. ( 8154909 )
1994
5
High-frequency oscillation for persistent fetal circulation after repair of congenital diaphragmatic hernia. ( 2702845 )
1989
6
Hearing loss and persistent fetal circulation. ( 2928027 )
1989
7
Hearing loss in infants with persistent fetal circulation. ( 2451802 )
1988
8
Persistent fetal circulation and extracorporeal membrane oxygenation. ( 2904010 )
1988
9
Pulmonary hypertension and persistent fetal circulation in the newborn. ( 3288429 )
1988
10
Treatment of persistent fetal circulation syndrome of the newborn. Comparison of different doses of tolazoline. ( 3104058 )
1987
11
Association of changes in bombesin immunoreactive neuroendocrine cells in lungs of newborn infants with persistent fetal circulation and brainstem damage due to birth asphyxia. ( 3529023 )
1986
12
Progressive sensorineural hearing loss in survivors of persistent fetal circulation. ( 3699262 )
1986
13
Persistent fetal circulation. Neurodevelopmental outcome. ( 2982256 )
1985
14
False diagnosis of persistent fetal circulation caused by misplacement of umbilical artery catheter. ( 4023769 )
1985
15
Cerebral arteriovenous malformation presenting as persistent fetal circulation. Diagnosis by cross-sectional echo. ( 6525211 )
1984
16
Use of the rebreathing method in the differential diagnosis of congenital heart disease and persistent fetal circulation. ( 6507303 )
1984
17
Persistent pulmonary hypertension of the neonate (persistent fetal circulation syndrome). ( 6424420 )
1983
18
Persistent fetal circulation in neonates postoperatively: the value of manual ventilation. ( 6406028 )
1983
19
Noninvasive diagnosis of persistent fetal circulation versus congenital cardiovascular defects. ( 6624676 )
1983
20
Persistent fetal circulation. ( 6631398 )
1983
21
Persistent fetal circulation: current concepts. ( 6843709 )
1983
22
Congenital neutropenia associated with phlebectasias and persistent fetal circulation. ( 7161118 )
1982
23
Nonbacterial endocardial thrombosis in neonates: relationship to persistent fetal circulation. ( 7057299 )
1982
24
beta-hemolytic streptococcal infection appearing as persistent fetal circulation. ( 7102624 )
1982
25
Altered lung mechanics in neonates with persistent fetal circulation syndrome. ( 7460588 )
1981
26
Interruption of aortic arch masquerading as persistent fetal circulation with definitive diagnosis by two-dimensional echocardiography. ( 7304403 )
1981
27
Occlusion of peripheral pulmonary vascular bed in a baby with idiopathic persistent fetal circulation. ( 7317237 )
1981
28
Management of persistent fetal circulation in a neonate. ( 7319800 )
1981
29
Model of persistent fetal circulation and sudden infant death syndrome (SIDS). ( 6107503 )
1980
30
Persistent fetal circulation and sudden infant death syndrome. ( 6107709 )
1980
31
Persistent fetal circulation. ( 6898712 )
1980
32
Hyperventilation in the treatment of persistent fetal circulation. ( 7188617 )
1980
33
Hyperventilation in the treatment of persistent fetal circulation. ( 7350308 )
1980
34
Use of prostacyclin in persistent fetal circulation. ( 87797 )
1979
35
Use of prostacyclin in persistent fetal circulation. ( 90302 )
1979
36
Persistent fetal circulation. Two cases with myocardial dysfunction and severe acidosis. ( 763197 )
1979
37
Transcutaneous PO2 monitoring in infants with persistent fetal circulation who are receiving tolazoline therapy. ( 714594 )
1978
38
Persistent fetal circulation: an evolving clinical and radiographic concept of pulmonary hypertension of the newborn. ( 896354 )
1977
39
Persistent fetal circulation in the newborn. ( 908860 )
1977
40
Persistent fetal circulation: Newly recognized structural features. ( 1255323 )
1976
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 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh37 Chromosome 16, 86544400: 86544400
2 FOXF1 NM_001451.2(FOXF1): c.225C> A (p.Tyr75Ter) single nucleotide variant Pathogenic rs121909336 GRCh38 Chromosome 16, 86510794: 86510794
3 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh37 Chromosome 16, 86546689: 86546689
4 FOXF1 NM_001451.2(FOXF1): c.1138T> C (p.Ter380Arg) single nucleotide variant Pathogenic rs121909337 GRCh38 Chromosome 16, 86513083: 86513083
5 FOXF1 FOXF1, 1-BP DUP, 775T duplication Pathogenic
6 FOXF1 FOXF1, 2-BP DEL, 956TT deletion Pathogenic
7 FOXF1 NM_001451.2(FOXF1): c.873C> T (p.Ser291=) single nucleotide variant Benign rs61753347 GRCh37 Chromosome 16, 86545048: 86545048
8 FOXF1 NM_001451.2(FOXF1): c.873C> T (p.Ser291=) single nucleotide variant Benign rs61753347 GRCh38 Chromosome 16, 86511442: 86511442
9 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh38 Chromosome 16, 86511477: 86511477
10 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh37 Chromosome 16, 86545083: 86545083
11 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh38 Chromosome 16, 86512915: 86512915
12 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh37 Chromosome 16, 86546521: 86546521
13 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh38 Chromosome 16, 86513101: 86513101
14 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh37 Chromosome 16, 86546707: 86546707
15 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh38 Chromosome 16, 86513156: 86513156
16 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh37 Chromosome 16, 86546762: 86546762
17 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh37 Chromosome 16, 86546951: 86546951
18 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh38 Chromosome 16, 86513345: 86513345
19 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh37 Chromosome 16, 86547061: 86547061
20 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh38 Chromosome 16, 86513455: 86513455
21 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh38 Chromosome 16, 86513457: 86513457
22 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh37 Chromosome 16, 86547063: 86547063
23 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh38 Chromosome 16, 86513716: 86513716
24 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh37 Chromosome 16, 86547322: 86547322
25 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh38 Chromosome 16, 86513731: 86513731
26 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh37 Chromosome 16, 86547337: 86547337
27 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh38 Chromosome 16, 86513767: 86513767
28 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh37 Chromosome 16, 86547373: 86547373
29 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh38 Chromosome 16, 86513809: 86513809
30 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh37 Chromosome 16, 86547415: 86547415
31 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh38 Chromosome 16, 86513839: 86513839
32 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh37 Chromosome 16, 86547445: 86547445
33 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh38 Chromosome 16, 86513994: 86513994
34 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh37 Chromosome 16, 86547600: 86547600
35 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh38 Chromosome 16, 86514180: 86514180
36 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh37 Chromosome 16, 86547786: 86547786
37 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh38 Chromosome 16, 86514267: 86514267
38 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh37 Chromosome 16, 86547873: 86547873
39 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh38 Chromosome 16, 86514301: 86514301
40 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh37 Chromosome 16, 86547907: 86547907
41 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh38 Chromosome 16, 86514383: 86514383
42 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh37 Chromosome 16, 86547989: 86547989
43 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs886052376 GRCh38 Chromosome 16, 86510629: 86510631
44 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs886052376 GRCh37 Chromosome 16, 86544235: 86544237
45 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh38 Chromosome 16, 86510654: 86510654
46 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh37 Chromosome 16, 86544260: 86544260
47 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh38 Chromosome 16, 86510773: 86510773
48 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh37 Chromosome 16, 86544379: 86544379
49 FOXF1 NM_001451.2(FOXF1): c.645C> T (p.His215=) single nucleotide variant Benign rs61740819 GRCh38 Chromosome 16, 86511214: 86511214
50 FOXF1 NM_001451.2(FOXF1): c.645C> T (p.His215=) single nucleotide variant Benign rs61740819 GRCh37 Chromosome 16, 86544820: 86544820
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 12)
# Super pathways Score Top Affiliating Genes
1
Corticotropin-releasing hormone signaling pathway 1
11.55 CRH NOS3 POMC
2
HIF-1-alpha transcription factor network 1
11.31 ABCG2 EDN1 IGFBP1
3
HIF1Alpha Pathway 64
11.17 EDN1 NOS3 SLC2A3
4
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 10.99 EDN1 POMC
5
EGFR Transactivation by Gastrin 66
Show member pathways
 10.91 EDN1 EDNRA
6
Photodynamic therapy-induced HIF-1 survival signaling 1
10.9 EDN1 IGFBP1 SLC2A3
7
Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics 61
10.78 ABCG2 SLC22A11
8
Endothelin Pathways 1
10.66 EDN1 EDNRA NOS3
9
NO-dependent CFTR activation (normal and CF) 22
10.57 NOS3 PDE5A
10
Uricosurics Pathway, Pharmacodynamics 61
10.51 ABCG2 SLC22A11
11
Prostaglandin Synthesis and Regulation 1
10.28 EDN1 EDNRA HSD11B2
12
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 61
10.21 CRH POMC
Sources

GO Terms for Persistent Fetal Circulation Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.87 CSH1 EDN1 PGF POMC
2 female pregnancy GO:0007565 9.67 CRH HSD11B2 PGF
3 lung development GO:0030324 9.65 CRH FOXF1 NOS3
4 branching involved in blood vessel morphogenesis GO:0001569 9.56 EDN1 EDNRA
5 in utero embryonic development GO:0001701 9.56 EDN1 EDNRA FOXF1 NOS3
6 positive regulation of cardiac muscle hypertrophy GO:0010613 9.55 EDN1 PDE5A
7 neural crest cell development GO:0014032 9.54 EDN1 EDNRA
8 regulation of blood vessel size GO:0050880 9.52 EDN1 NOS3
9 vasoconstriction GO:0042310 9.51 EDN1 EDNRA
10 artery smooth muscle contraction GO:0014824 9.46 EDN1 EDNRA
11 response to hypoxia GO:0001666 9.46 EDN1 EDNRA HSD11B2 PGF
12 glucocorticoid biosynthetic process GO:0006704 9.43 CRH HSD11B2
13 urate metabolic process GO:0046415 9.4 ABCG2 SLC22A11
14 regulation of glucose transmembrane transport GO:0010827 9.37 EDN1 EDNRA
15 response to drug GO:0042493 9.35 ABCG2 CRH EDN1 HSD11B2 PGF
16 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.32 EDN1 NOS3
17 regulation of blood pressure GO:0008217 8.92 EDN1 EDNRA NOS3 POMC

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.56 CRH EDN1 IGFBP1 POMC
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.16 SLC22A11 SLCO2B1
3 organic anion transmembrane transporter activity GO:0008514 8.96 SLC22A11 SLCO2B1
4 hormone activity GO:0005179 8.92 CRH CSH1 EDN1 POMC
Sources

Sources for Persistent Fetal Circulation Syndrome

About this section
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
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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