MCID: PRS030
MIFTS: 46

Persistent Fetal Circulation Syndrome

Categories: Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Persistent Fetal Circulation Syndrome

MalaCards integrated aliases for Persistent Fetal Circulation Syndrome:

Name: Persistent Fetal Circulation Syndrome 12 45 15 17 74
Persistent Fetal Circulation 12 30 6
Congenital Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 12
Persistent Pulmonary Hypertension of the Newborn 12
Fetal Circulation 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13042
ICD9CM 36 747.83
MeSH 45 D010547
NCIt 51 C85006
SNOMED-CT 69 35604006
ICD10 34 P29.3 P29.30
UMLS 74 C0031190

Summaries for Persistent Fetal Circulation Syndrome

MalaCards based summary : Persistent Fetal Circulation Syndrome, also known as persistent fetal circulation, is related to pre-eclampsia and diabetes mellitus, noninsulin-dependent. An important gene associated with Persistent Fetal Circulation Syndrome is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are HIF-1 signaling pathway and Corticotropin-releasing hormone signaling pathway. The drugs Sodium Citrate and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and endothelial, and related phenotypes are homeostasis/metabolism and adipose tissue

Wikipedia : 77 Persistent fetal circulation (also called persistent pulmonary hypertension of the newborn, PPHN) is a... more...

Related Diseases for Persistent Fetal Circulation Syndrome

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 pre-eclampsia 29.3 CRH EDN1 HSD11B2 IGFBP1 NOS3 PGF
2 diabetes mellitus, noninsulin-dependent 28.5 EDN1 IGF1 IGFBP1 NOS3 SLC2A3
3 alveolar capillary dysplasia with misalignment of pulmonary veins 11.4
4 fetal erythroblastosis 11.0
5 allergic encephalomyelitis 10.4 CRH POMC
6 hypothalamic disease 10.3 CRH POMC
7 gangliocytoma 10.3 CRH POMC
8 pituitary carcinoma 10.3 CRH POMC
9 acth deficiency, isolated 10.3 CRH POMC
10 hypoplastic left heart syndrome 1 10.3
11 hypoplastic left heart syndrome 10.3
12 alveolar capillary dysplasia 10.3
13 nelson syndrome 10.3 CRH POMC
14 hypoadrenalism 10.3 CRH POMC
15 coronary artery vasospasm 10.3 EDN1 NOS3
16 chronic mountain sickness 10.3 EDN1 NOS3
17 vasculogenic impotence 10.3 NOS3 PDE5A
18 acth-secreting pituitary adenoma 10.2 CRH POMC
19 pulmonary hypertension, primary, 1 10.2 EDN1 FOXF1 PDE5A
20 acidophil adenoma 10.2 IGF1 POMC
21 brachydactyly, type e2 10.2 EDN1 NOS3
22 orthostatic intolerance 10.2 EDN1 NOS3 POMC
23 non-gestational choriocarcinoma 10.2 CSH1 IGFBP1
24 pituitary infarct 10.2 IGF1 POMC
25 adrenal cortical hypofunction 10.2 CRH POMC
26 sexual disorder 10.2 EDN1 NOS3 PDE5A
27 ischemic optic neuropathy 10.2 EDN1 NOS3 PDE5A
28 nonarteritic anterior ischemic optic neuropathy 10.2 EDN1 NOS3 PDE5A
29 impotence 10.2 EDN1 NOS3 PDE5A
30 empty sella syndrome 10.2 IGF1 POMC
31 limb ischemia 10.2 EDN1 NOS3 PGF
32 aortic coarctation 10.2 EDN1 NOS3
33 meconium aspiration syndrome 10.2
34 gestational choriocarcinoma 10.2 ABCG2 CSH1
35 arteries, anomalies of 10.2 EDN1 NOS3 PGF
36 disease of mental health 10.2 CRH PDE5A POMC
37 hyperpituitarism 10.1 IGF1 POMC
38 adrenal cortex disease 10.1 CRH HSD11B2 POMC
39 adrenal gland disease 10.1 CRH HSD11B2 POMC
40 mild pre-eclampsia 10.1 IGFBP1 PGF
41 raynaud phenomenon 10.1 EDN1 PDE5A
42 sheehan syndrome 10.1 CRH IGF1 POMC
43 fasting hypoglycemia 10.1 CRH IGF1 POMC
44 hypothyroidism, congenital, nongoitrous, 4 10.1 CRH IGF1 POMC
45 steroid inherited metabolic disorder 10.1 HSD11B2 POMC
46 pituitary gland disease 10.1 CRH IGF1 POMC
47 adrenocortical carcinoma, hereditary 10.1 CRH HSD11B2 POMC
48 pneumothorax 10.1
49 hypoxia 10.1
50 cell type benign neoplasm 10.1 CRH IGF1 POMC

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



Diseases related to Persistent Fetal Circulation Syndrome

Symptoms & Phenotypes for Persistent Fetal Circulation Syndrome

MGI Mouse Phenotypes related to Persistent Fetal Circulation Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ABCG2 CRH EDN1 FCGRT HSD11B2 IGF1
2 adipose tissue MP:0005375 9.63 ABCG2 CRH IGF1 NOS3 PGF POMC
3 renal/urinary system MP:0005367 9.17 ABCG2 CRH EDN1 HSD11B2 IGF1 NOS3

Drugs & Therapeutics for Persistent Fetal Circulation Syndrome

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 68-04-2
2
tannic acid Approved Phase 4,Phase 3 1401-55-4
3
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
4
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068
5
Adenosine Approved, Investigational Phase 4 58-61-7 60961
6
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
7
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 77-92-9 311
8 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 171599-83-0
10 Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Pharmaceutical Solutions Phase 4,Phase 3
14 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
21 Free Radical Scavengers Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
22 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
23 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Endothelial Growth Factors Phase 4
25 Mitogens Phase 4
26 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
27
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
28
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
29 Hormone Antagonists Phase 3,Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
31 Hormones Phase 3,Phase 2
32 Progestins Phase 3
33 Caproate Phase 3
34 Estrogens Phase 3
35 17 alpha-Hydroxyprogesterone Caproate Phase 3
36 11-hydroxyprogesterone Phase 3
37 Estrogen Antagonists Phase 3
38 Estrogen Receptor Antagonists Phase 3
39 Antihypertensive Agents Phase 3,Phase 2
40 Endothelin Receptor Antagonists Phase 3
41
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
42
Darbepoetin alfa Approved, Investigational Phase 1, Phase 2 11096-26-7, 209810-58-2
43
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
44
Milrinone Approved Phase 2,Not Applicable 78415-72-2 4197
45 Tezosentan Investigational Phase 2 180384-57-0
46 Betamethasone benzoate Phase 2
47 Betamethasone sodium phosphate Phase 2
48 Betamethasone-17,21-dipropionate Phase 2
49 Anti-Inflammatory Agents Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show all 34)
# 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 A Prospective, Randomized and Placebo Controlled Trial Comparing the Role of ARTificial Uterine CONtractions and no Intervention in Perinatal Respiratory Morbidity of Term Infants Delivered by Elective Caesarean Section Not yet recruiting NCT03899597 Not Applicable Oxytocin
33 Pharmacokinetic Study of Milrinone in Babies With Persistent Pulmonary Hypertension of the Newborn Terminated NCT01088997 Not Applicable Milrinone Lactate
34 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 74 / NDF-RT 52 :


Cochrane evidence based reviews: persistent fetal circulation syndrome

Genetic Tests for Persistent Fetal Circulation Syndrome

Genetic tests related to Persistent Fetal Circulation Syndrome:

# Genetic test Affiliating Genes
1 Persistent Fetal Circulation 30 FOXF1

Anatomical Context for Persistent Fetal Circulation Syndrome

MalaCards organs/tissues related to Persistent Fetal Circulation Syndrome:

42
Lung, Brain, Endothelial, Heart

Publications for Persistent Fetal Circulation Syndrome

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
Progressive sensorineural hearing loss in survivors of persistent fetal circulation. ( 3699262 )
1986
12
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
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

Variations for Persistent Fetal Circulation Syndrome

ClinVar genetic disease variations for Persistent Fetal Circulation Syndrome:

6 (show top 50) (show all 113)
# 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 46;XY;t(9;16)(p24;q22)dn Translocation Pathogenic
10 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh38 Chromosome 16, 86511477: 86511477
11 FOXF1 NM_001451.2(FOXF1): c.908G> A (p.Ser303Asn) single nucleotide variant Likely benign rs200676463 GRCh37 Chromosome 16, 86545083: 86545083
12 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh38 Chromosome 16, 86512915: 86512915
13 FOXF1 NM_001451.2(FOXF1): c.980-10C> T single nucleotide variant Likely benign rs368414616 GRCh37 Chromosome 16, 86546521: 86546521
14 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh38 Chromosome 16, 86513101: 86513101
15 FOXF1 NM_001451.2(FOXF1): c.*16C> T single nucleotide variant Uncertain significance rs754401391 GRCh37 Chromosome 16, 86546707: 86546707
16 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh38 Chromosome 16, 86513156: 86513156
17 FOXF1 NM_001451.2(FOXF1): c.*71C> A single nucleotide variant Uncertain significance rs886052378 GRCh37 Chromosome 16, 86546762: 86546762
18 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh37 Chromosome 16, 86546951: 86546951
19 FOXF1 NM_001451.2(FOXF1): c.*260T> C single nucleotide variant Uncertain significance rs886052380 GRCh38 Chromosome 16, 86513345: 86513345
20 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh37 Chromosome 16, 86547061: 86547061
21 FOXF1 NM_001451.2(FOXF1): c.*370G> A single nucleotide variant Likely benign rs527370416 GRCh38 Chromosome 16, 86513455: 86513455
22 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh38 Chromosome 16, 86513457: 86513457
23 FOXF1 NM_001451.2(FOXF1): c.*372G> A single nucleotide variant Benign rs74657925 GRCh37 Chromosome 16, 86547063: 86547063
24 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh38 Chromosome 16, 86513716: 86513716
25 FOXF1 NM_001451.2(FOXF1): c.*631C> T single nucleotide variant Likely benign rs147615917 GRCh37 Chromosome 16, 86547322: 86547322
26 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh38 Chromosome 16, 86513731: 86513731
27 FOXF1 NM_001451.2(FOXF1): c.*646G> T single nucleotide variant Uncertain significance rs781403145 GRCh37 Chromosome 16, 86547337: 86547337
28 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh38 Chromosome 16, 86513767: 86513767
29 FOXF1 NM_001451.2(FOXF1): c.*682G> A single nucleotide variant Uncertain significance rs886052382 GRCh37 Chromosome 16, 86547373: 86547373
30 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh38 Chromosome 16, 86513809: 86513809
31 FOXF1 NM_001451.2(FOXF1): c.*724C> T single nucleotide variant Likely benign rs191354117 GRCh37 Chromosome 16, 86547415: 86547415
32 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh38 Chromosome 16, 86513839: 86513839
33 FOXF1 NM_001451.2(FOXF1): c.*754T> C single nucleotide variant Likely benign rs142129039 GRCh37 Chromosome 16, 86547445: 86547445
34 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh38 Chromosome 16, 86513994: 86513994
35 FOXF1 NM_001451.2(FOXF1): c.*909G> A single nucleotide variant Uncertain significance rs561764653 GRCh37 Chromosome 16, 86547600: 86547600
36 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh38 Chromosome 16, 86514180: 86514180
37 FOXF1 NM_001451.2(FOXF1): c.*1095C> A single nucleotide variant Uncertain significance rs377544296 GRCh37 Chromosome 16, 86547786: 86547786
38 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh38 Chromosome 16, 86514267: 86514267
39 FOXF1 NM_001451.2(FOXF1): c.*1182T> G single nucleotide variant Uncertain significance rs886052385 GRCh37 Chromosome 16, 86547873: 86547873
40 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh38 Chromosome 16, 86514301: 86514301
41 FOXF1 NM_001451.2(FOXF1): c.*1216T> G single nucleotide variant Likely benign rs113855345 GRCh37 Chromosome 16, 86547907: 86547907
42 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh38 Chromosome 16, 86514383: 86514383
43 FOXF1 NM_001451.2(FOXF1): c.*1298dupA duplication Uncertain significance rs886052386 GRCh37 Chromosome 16, 86547989: 86547989
44 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs757668134 GRCh38 Chromosome 16, 86510629: 86510631
45 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs757668134 GRCh37 Chromosome 16, 86544235: 86544237
46 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh38 Chromosome 16, 86510654: 86510654
47 FOXF1 NM_001451.2(FOXF1): c.85G> T (p.Ala29Ser) single nucleotide variant Likely benign rs373503439 GRCh37 Chromosome 16, 86544260: 86544260
48 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh38 Chromosome 16, 86510773: 86510773
49 FOXF1 NM_001451.2(FOXF1): c.204C> G (p.Arg68=) single nucleotide variant Benign rs370422274 GRCh37 Chromosome 16, 86544379: 86544379
50 FOXF1 NM_001451.2(FOXF1): c.645C> T (p.His215=) single nucleotide variant Benign rs61740819 GRCh38 Chromosome 16, 86511214: 86511214

Expression for Persistent Fetal Circulation Syndrome

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

Pathways for Persistent Fetal Circulation Syndrome

GO Terms for Persistent Fetal Circulation Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 CRH CSH1 EDN1 IGF1 IGFBP1 PGF

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.65 CRH HSD11B2 PGF
2 lung development GO:0030324 9.63 CRH FOXF1 NOS3
3 regulation of signaling receptor activity GO:0010469 9.55 CSH1 EDN1 IGF1 PGF POMC
4 positive regulation of mitotic nuclear division GO:0045840 9.52 EDN1 IGF1
5 regulation of blood vessel size GO:0050880 9.51 EDN1 NOS3
6 regulation of blood pressure GO:0008217 9.5 EDN1 NOS3 POMC
7 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.49 EDN1 IGF1
8 glucocorticoid biosynthetic process GO:0006704 9.43 CRH HSD11B2
9 urate metabolic process GO:0046415 9.4 ABCG2 SLC22A11
10 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.37 EDN1 IGF1
11 response to drug GO:0042493 9.35 ABCG2 CRH EDN1 HSD11B2 PGF
12 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.26 EDN1 NOS3
13 positive regulation of cardiac muscle hypertrophy GO:0010613 8.8 EDN1 IGF1 PDE5A

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 growth factor activity GO:0008083 9.5 CSH1 IGF1 PGF
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.16 SLC22A11 SLCO2B1
4 hormone activity GO:0005179 9.02 CRH CSH1 EDN1 IGF1 POMC
5 organic anion transmembrane transporter activity GO:0008514 8.96 SLC22A11 SLCO2B1

Sources for Persistent Fetal Circulation Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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70 SNOMED-CT via HPO
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73 Tocris
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75 UMLS via Orphanet
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