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MCID: PRS030
MIFTS: 43

Persistent Fetal Circulation Syndrome

Categories: Fetal diseases, Cardiovascular 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
ICD9CM 35 747.83
MeSH 44 D010547
NCIt 50 C85006
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 alveolar capillary dysplasia with misalignment of pulmonary veins. 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 Benzocaine and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and endothelial, and related phenotypes are homeostasis/metabolism and cardiovascular 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 62)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 27.7 EDN1 EDNRA FOXF1 NOS3 PDE5A PGF
2 alveolar capillary dysplasia with misalignment of pulmonary veins 11.2
3 hypothalamic disease 10.7 CRH POMC
4 pituitary carcinoma 10.7 CRH POMC
5 coronary artery vasospasm 10.7 EDN1 NOS3
6 acth deficiency, isolated 10.7 CRH POMC
7 non-gestational choriocarcinoma 10.7 CSH1 IGFBP1
8 nelson syndrome 10.7 CRH POMC
9 hypoadrenalism 10.6 CRH POMC
10 chronic mountain sickness 10.6 EDN1 NOS3
11 acth-secreting pituitary adenoma 10.6 CRH POMC
12 vasculogenic impotence 10.5 NOS3 PDE5A
13 acidophil adenoma 10.5 IGF1 POMC
14 orthostatic intolerance 10.5 EDN1 NOS3 POMC
15 gestational choriocarcinoma 10.5 ABCG2 CSH1
16 urinary system disease 10.5 CRH EDN1 POMC
17 pituitary infarct 10.5 IGF1 POMC
18 raynaud phenomenon 10.5 EDN1 PDE5A
19 angina pectoris 10.5 EDN1 NOS3
20 sexual disorder 10.4 EDN1 NOS3 PDE5A
21 ischemic optic neuropathy 10.4 EDN1 NOS3 PDE5A
22 nonarteritic anterior ischemic optic neuropathy 10.4 EDN1 NOS3 PDE5A
23 empty sella syndrome 10.4 IGF1 POMC
24 impotence 10.4 EDN1 NOS3 PDE5A
25 mild pre-eclampsia 10.4 IGFBP1 PGF
26 limb ischemia 10.4 EDN1 NOS3 PGF
27 disease of mental health 10.3 CRH PDE5A POMC
28 arteries, anomalies of 10.3 EDN1 NOS3 PGF
29 hyperpituitarism 10.3 IGF1 POMC
30 adrenal cortex disease 10.3 CRH HSD11B2 POMC
31 adrenal gland disease 10.3 CRH HSD11B2 POMC
32 adrenal cortical hypofunction 10.3 CRH POMC
33 sheehan syndrome 10.2 CRH IGF1 POMC
34 fasting hypoglycemia 10.2 CRH IGF1 POMC
35 steroid inherited metabolic disorder 10.2 HSD11B2 POMC
36 hypothyroidism, congenital, nongoitrous, 4 10.2 IGF1 POMC
37 endocrine organ benign neoplasm 10.2 CRH IGF1 POMC
38 pituitary gland disease 10.2 CRH IGF1 POMC
39 gonadal disease 10.2 CRH IGF1 POMC
40 conn's syndrome 10.2 CRH HSD11B2 POMC
41 hypopituitarism 10.2 CRH IGF1 POMC
42 chronic fatigue syndrome 10.2 CRH IGF1 POMC
43 aortic coarctation 10.2 EDN1 NOS3
44 sleep apnea 10.2 EDN1 IGF1 NOS3
45 hyperandrogenism 10.2 IGF1 IGFBP1 POMC
46 glucose metabolism disease 10.1 IGF1 NOS3 POMC
47 silver-russell syndrome 10.1 CSH1 IGF1 IGFBP1
48 acquired metabolic disease 10.1 IGF1 NOS3 POMC
49 perinephritis 10.1 EDN1 EDNRA
50 mandibulofacial dysostosis with alopecia 10.1 EDN1 EDNRA

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 10.06 FCGRT POMC SLC2A3 HSD11B2 ABCG2 IGF1
2 cardiovascular system MP:0005385 9.97 FOXF1 POMC HSD11B2 IGF1 NOS3 EDN1
3 immune system MP:0005387 9.91 FCGRT POMC ABCG2 IGF1 IGFBP1 CRH
4 adipose tissue MP:0005375 9.88 POMC ABCG2 IGF1 CRH NOS3 PGF
5 normal MP:0002873 9.7 HSD11B2 ABCG2 IGF1 CRH NOS3 EDN1
6 renal/urinary system MP:0005367 9.56 POMC HSD11B2 ABCG2 IGF1 CRH NOS3
7 respiratory system MP:0005388 9.1 FOXF1 IGF1 CRH NOS3 PGF EDNRA
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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
2
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 10102-43-9 145068 160954
3
Adenosine Approved, Investigational Phase 4 58-61-7 60961
4
Iloprost Approved, Investigational Phase 4,Phase 1,Phase 2 78919-13-8 6443959
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 77-92-9 311
6 tannic acid Approved, Nutraceutical Phase 4,Phase 3
7 Pharmaceutical Solutions Phase 4,Phase 3
8 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Sildenafil Citrate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 171599-83-0
11 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Anti-Asthmatic Agents 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 Antioxidants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Endothelium-Dependent Relaxing Factors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
18 Neurotransmitter Agents 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 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Endothelial Growth Factors Phase 4
22 Mitogens Phase 4
23 Platelet Aggregation Inhibitors Phase 4,Phase 2,Phase 1,Not Applicable
24 Citrate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
26
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
27 Hormone Antagonists Phase 3,Phase 2
28 Hormones Phase 3,Phase 2
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
30 11-hydroxyprogesterone Phase 3
31 17-alpha-hydroxy-progesterone caproate Phase 3
32 Estrogen Antagonists Phase 3
33 Estrogens Phase 3
34 Progestins Phase 3
35 Antihypertensive Agents Phase 3,Phase 2
36 Endothelin Receptor Antagonists Phase 3
37 Caproate Nutraceutical Phase 3
38
Betamethasone Approved, Vet_approved Phase 2 378-44-9 9782
39
Darbepoetin alfa Approved, Investigational Phase 1, Phase 2 11096-26-7, 209810-58-2
40
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
41
Milrinone Approved Phase 2,Not Applicable 78415-72-2 4197
42 Tezosentan Investigational Phase 2 180384-57-0
43 Anti-Inflammatory Agents Phase 2
44 Betamethasone benzoate Phase 2
45 Betamethasone sodium phosphate Phase 2
46 Betamethasone Valerate Phase 2 2152-44-5
47 Betamethasone-17,21-dipropionate Phase 2
48 glucocorticoids Phase 2
49 Hematinics Phase 1, Phase 2
50 Antidepressive Agents, Tricyclic 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 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 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
22 Persistent Pulmonary Hypertension of the Newborn (PPHN) Observational Study Completed NCT01203423
23 NO Need to Ventilate: A Trial of Non-invasive Inhaled Nitric Oxide in Persistent Pulmonary Hypertension of the Newborn Completed NCT00139217 Not Applicable iNO
24 Risk Factors for Pulmonary Hypertension of the Newborn Completed NCT00005497
25 Epidemiology of Persistent Pulmonary Hypertension of the Newborn - SCOR in Lung Biology and Diseases in Infants and Children Completed NCT00005323
26 A Non-Interventional Follow Up Study For Subjects Who Received Sildenafil for Persistent Pulmonary Hypertension of the Newborn (PPHN) Completed NCT01801982
27 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
28 PTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn Recruiting NCT00710177
29 Markers of Inflammation and Lung Recovery in ECMO Patients for PPHN Recruiting NCT02940327
30 Plethismographic Perfusion Index in Neonates Recruiting NCT02380040
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

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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, Brain, Endothelial
Sources

Publications for Persistent Fetal Circulation Syndrome

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Articles related to Persistent Fetal Circulation Syndrome:

# Title Authors Year
1
Treatment of persistent fetal circulation syndrome of the newborn. Comparison of different doses of tolazoline. ( 3104058 )
1987
2
Persistent pulmonary hypertension of the neonate (persistent fetal circulation syndrome). ( 6424420 )
1983
3
Altered lung mechanics in neonates with persistent fetal circulation syndrome. ( 7460588 )
1981
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 111)
# 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 rs886052376 GRCh38 Chromosome 16, 86510629: 86510631
45 FOXF1 NM_001451.2(FOXF1): c.60_62delGGG (p.Gly23del) deletion Uncertain significance rs886052376 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
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 13)
# Super pathways Score Top Affiliating Genes
1
HIF-1 signaling pathway 37
11.67 EDN1 IGF1 NOS3
2
Corticotropin-releasing hormone signaling pathway 1
11.6 CRH NOS3 POMC
3
HIF-1-alpha transcription factor network 1
11.39 ABCG2 EDN1 IGFBP1
4
HIF1Alpha Pathway 64
11.23 EDN1 NOS3 SLC2A3
5
Photodynamic therapy-induced HIF-1 survival signaling 1
11 EDN1 IGFBP1 SLC2A3
6
Endothelin Pathways 1
10.86 EDN1 EDNRA NOS3
7
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
10.85 IGF1 IGFBP1
8
Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics 61
10.81 ABCG2 SLC22A11
9
Prostaglandin Synthesis and Regulation 1
10.61 EDN1 EDNRA HSD11B2
10
NO-dependent CFTR activation (normal and CF) 22
10.59 NOS3 PDE5A
11
Uricosurics Pathway, Pharmacodynamics 61
10.51 ABCG2 SLC22A11
12
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 61
10.21 CRH POMC
13
EGFR Transactivation by Gastrin 66
Show member pathways
 10.21 EDN1 EDNRA IGF1
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 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.8 CSH1 EDN1 IGF1 PGF POMC
2 lung development GO:0030324 9.71 CRH FOXF1 NOS3
3 female pregnancy GO:0007565 9.7 CRH HSD11B2 PGF
4 in utero embryonic development GO:0001701 9.62 EDN1 EDNRA FOXF1 NOS3
5 positive regulation of mitotic nuclear division GO:0045840 9.59 EDN1 IGF1
6 neural crest cell development GO:0014032 9.58 EDN1 EDNRA
7 glucose transmembrane transport GO:1904659 9.58 EDNRA SLC2A3
8 regulation of blood vessel size GO:0050880 9.57 EDN1 NOS3
9 vasoconstriction GO:0042310 9.56 EDN1 EDNRA
10 response to hypoxia GO:0001666 9.56 EDN1 EDNRA HSD11B2 PGF
11 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.55 EDN1 IGF1
12 response to drug GO:0042493 9.55 ABCG2 CRH EDN1 HSD11B2 PGF
13 artery smooth muscle contraction GO:0014824 9.51 EDN1 EDNRA
14 glucocorticoid biosynthetic process GO:0006704 9.49 CRH HSD11B2
15 urate metabolic process GO:0046415 9.48 ABCG2 SLC22A11
16 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.46 EDN1 IGF1
17 regulation of glucose transmembrane transport GO:0010827 9.43 EDN1 EDNRA
18 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.37 EDN1 NOS3
19 positive regulation of cardiac muscle hypertrophy GO:0010613 9.13 EDN1 IGF1 PDE5A
20 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 hormone activity GO:0005179 9.02 CRH CSH1 EDN1 IGF1 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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