PEE1
MCID: PRC031
MIFTS: 43

Preeclampsia/eclampsia 1 (PEE1)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Preeclampsia/eclampsia 1

MalaCards integrated aliases for Preeclampsia/eclampsia 1:

Name: Preeclampsia/eclampsia 1 57 29 13
Preeclampsia/eclampsia, Type 1 39
Toxemia of Pregnancy 57
Pregnancy Toxemias 54
Pre-Eclampsia 70
Preg1 57
Pee1 57
Pee 57

Characteristics:

OMIM®:

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

Miscellaneous:
majority of cases are sporadic
occurs in ~3% pregnancies in western populations
clinical manifestation ranges from mild, transient hypertension to hellp syndrome (hemolysis, elevated liver enzymes, and low platelets)


HPO:

31
preeclampsia/eclampsia 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Preeclampsia/eclampsia 1

OMIM® : 57 Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011). Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). (189800) (Updated 20-May-2021)

MalaCards based summary : Preeclampsia/eclampsia 1, also known as preeclampsia/eclampsia, type 1, is related to eclampsia and pre-eclampsia, and has symptoms including edema and hyperemesis gravidarum. An important gene associated with Preeclampsia/eclampsia 1 is NOS3 (Nitric Oxide Synthase 3). The drugs Azithromycin and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, placenta and liver, and related phenotypes are hypertension and proteinuria

Related Diseases for Preeclampsia/eclampsia 1

Diseases in the Preeclampsia/eclampsia 1 family:

Preeclampsia/eclampsia 2 Preeclampsia/eclampsia 3
Preeclampsia/eclampsia 4 Preeclampsia/eclampsia 5

Diseases related to Preeclampsia/eclampsia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 eclampsia 31.1 SERPINC1 PEE1 NOS3
2 pre-eclampsia 30.4 SERPINC1 PEE1 NSD1 NOS3
3 placental abruption 30.1 SERPINC1 NOS3
4 pulmonary edema 29.7 SERPINC1 NOS3
5 stroke, ischemic 29.4 SERPINC1 NOS3
6 heart disease 28.9 SERPINC1 NSD1 NOS3
7 thrombotic thrombocytopenic purpura 11.0
8 retinal detachment 10.4
9 mild pre-eclampsia 10.3
10 proteinuria, chronic benign 10.2
11 disseminated intravascular coagulation 10.2
12 severe pre-eclampsia 10.2
13 hypertension, essential 10.2
14 hypertensive retinopathy 10.2
15 pain agnosia 10.1
16 hydatidiform mole, recurrent, 1 10.1
17 pyelonephritis 10.1
18 retinal vascular occlusion 10.1
19 retinal vascular disease 10.1
20 glomerulonephritis 10.1
21 purpura 10.1
22 gestational trophoblastic neoplasm 10.1
23 chlamydia 10.1
24 encephalopathy 10.1
25 inflammatory bowel disease 10.0
26 urinary tract infection 10.0
27 hepatic coma 10.0
28 hepatic encephalopathy 10.0
29 interstitial cystitis 10.0
30 cystitis 10.0
31 constipation 10.0
32 liver disease 10.0
33 irritable bowel syndrome 10.0
34 endocardial fibroelastosis 10.0
35 deficiency anemia 10.0
36 fetal erythroblastosis 10.0
37 blood coagulation disease 10.0
38 pemphigoid gestationis 10.0
39 anuria 10.0
40 placenta disease 10.0
41 hypertriglyceridemia, familial 9.9
42 volvulus of midgut 9.9
43 anemia, autoimmune hemolytic 9.9
44 hydrops fetalis, nonimmune 9.9
45 yemenite deaf-blind hypopigmentation syndrome 9.9
46 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.9
47 late-onset retinal degeneration 9.9
48 lymphatic malformation 7 9.9
49 adrenal gland pheochromocytoma 9.9
50 thrombosis 9.9

Graphical network of the top 20 diseases related to Preeclampsia/eclampsia 1:



Diseases related to Preeclampsia/eclampsia 1

Symptoms & Phenotypes for Preeclampsia/eclampsia 1

Human phenotypes related to Preeclampsia/eclampsia 1:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 proteinuria 31 HP:0000093
3 intrauterine growth retardation 31 HP:0001511
4 elevated hepatic transaminase 31 HP:0002910
5 thrombocytopenia 31 HP:0001873
6 edema 31 HP:0000969
7 preeclampsia 31 HP:0100602
8 eclampsia 31 HP:0100601
9 maternal hypertension 31 HP:0008071
10 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria

Muscle Soft Tissue:
edema

Cardiovascular Vascular:
maternal hypertension (after 20th week gestation, resolved postpartum)

Abdomen Liver:
elevated liver enzymes

Hematology:
thrombocytopenia (hellp syndrome)

Laboratory Abnormalities:
proteinuria
elevated liver enzymes

Growth Other:
intrauterine growth retardation (in fetus)

Prenatal Manifestations Maternal:
maternal hypertension (after 20th week gestation, resolved postpartum)

Neurologic Central Nervous System:
seizures (eclampsia)

Clinical features from OMIM®:

189800 (Updated 20-May-2021)

UMLS symptoms related to Preeclampsia/eclampsia 1:


edema; hyperemesis gravidarum

Drugs & Therapeutics for Preeclampsia/eclampsia 1

Drugs for Preeclampsia/eclampsia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 55185 447043
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Nitric Oxide Approved Phase 4 10102-43-9 145068
4
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
5
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
6
Captopril Approved Phase 4 62571-86-2 44093
7
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
8
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
9
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
10
Methyldopa Approved Phase 4 555-30-6 38853
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Ibuprofen Approved Phase 4 15687-27-1 3672
13
Metformin Approved Phase 4 657-24-9 14219 4091
14
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
15
Enalaprilat Approved Phase 4 76420-72-9 6917719
16
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
17
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
18
Phenylephrine Approved Phase 4 59-42-7 6041
19
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
20
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22 Anti-Bacterial Agents Phase 4
23 Vitamin D2 Phase 4
24 Ergocalciferols Phase 4
25 diuretics Phase 4
26 isosorbide-5-mononitrate Phase 4
27 Hypoglycemic Agents Phase 4
28 Angiotensin-Converting Enzyme Inhibitors Phase 4
29 Vaccines Phase 4
30 Anesthetics Phase 4
31 Anticonvulsants Phase 4
32 Cardiotonic Agents Phase 4
33 Protective Agents Phase 4
34 Respiratory System Agents Phase 4
35 Nasal Decongestants Phase 4
36 Mydriatics Phase 4
37
Dinoprostone Approved Phase 3 363-24-6 5280360
38
Dexmedetomidine Approved, Vet_approved Phase 2, Phase 3 113775-47-6 68602 5311068
39
Atorvastatin Approved Phase 3 134523-00-5 60823
40
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
41
Ropivacaine Approved Phase 3 84057-95-4 71273 175805
42
Selenium Approved, Investigational, Vet_approved Phase 2, Phase 3 7782-49-2
43
Magnesium oxide Approved Phase 3 1309-48-4 14792
44
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
45
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
46
Benazepril Approved, Investigational Phase 3 86541-75-5 5362124
47
Mineral oil Approved, Vet_approved Phase 3 8042-47-5
48
Esomeprazole Approved, Investigational Phase 3 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
49
Pravastatin Approved Phase 3 81093-37-0 54687
50
Polyestradiol phosphate Approved Phase 3 28014-46-2

Interventional clinical trials:

(show top 50) (show all 541)
# Name Status NCT ID Phase Drugs
1 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline
2 Low Dose Calcium Supplementation to Prevent Preeclampsia: a Cluster Randomized Study Unknown status NCT02338687 Phase 4
3 Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features Unknown status NCT02911701 Phase 4 Acetaminophen;Ibuprofen
4 Impact of Antichlamydial Treatment on the Rate of Preeclampsia Among Egyptian Primigravidae: a Randomized Controlled Trial Unknown status NCT03233880 Phase 4 Azithromycin 1gm
5 Effectiveness Of Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia: Randomized Placebo-Controlled Clinical Trial Unknown status NCT01361425 Phase 4 methildopa;placebo
6 Oral Nifedipine Versus Labetalol in Treatment of Postpartum Hypertension Unknown status NCT03449277 Phase 4 Oral Tablet
7 Cardiovascular Performance and Autonomic Reactivity in Formerly Preeclamptic Women With a Contracted Plasma Volume (CAPACITY Trial) Unknown status NCT00117546 Phase 4 alpha methyldopa
8 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
9 Continuation Versus Discontinuation of Magnesium Sulfate After Delivery in Women With Severe Preeclampsia. A Randomized Controlled Trial Unknown status NCT03318211 Phase 4 Magnesium Sulfate
10 Effect of Administering Intravenous Magnesium Sulfate Heptahydrate (MgSO4•7H2O) on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients in 3rd Trimester of Pregnancy Unknown status NCT03237000 Phase 4 MgSO4
11 A Randomized-controlled Trial to Assess the Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy Completed NCT02891174 Phase 4 Ibuprofen;Acetaminophen
12 An Open-label Randomized-Controlled Trial of Early Screening Test for Pre-eclampsia and Growth Restriction Completed NCT03674606 Phase 4 Low dose aspirin
13 Evaluation of Dose-response Effect of Acetylsalicylic Acid on Placental Development, Preterm Birth, Fetal Growth and Hypertension in Pregnancy in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4 Acetylsalicylic Acid 160 mg;Acetylsalicylic Acid 80 mg
14 Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers Completed NCT01729468 Phase 4 Aspirin;Placebo
15 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
16 Efficacy and Safety of One Gram Versus Two Grams Intravenous Maintenance Dose of Magnesium Sulfate in Women With Severe Pre-eclampsia: a Randomized Clinical Trial. Completed NCT03164304 Phase 4 Magnesium Sulfate
17 Postpartum Prophylaxis With Short Course Magnesium Sulfate in Severe Preeclampsia: a Randomized Clinical Trial Completed NCT01408979 Phase 4 Magnesium sulfate 12 hours;Magnesium sulfate 24 hours
18 Ethnic Differences in Anti-Hypertensive Medication Response Among Pregnant and Postpartum Patients Completed NCT03506724 Phase 4 Nifedipine;Labetalol
19 Treatment Approaches to Preeclampsia Completed NCT01030627 Phase 4
20 Adding Magnesium Sulphate to Epidural Levobupivacaine in Elective Caesarian Section for Patients With Preeclampsia Completed NCT02699827 Phase 4 Levobupivacaine hydrochloride;Magnesium sulphate;Saline 0.9%
21 Randomized Trial of Magnesium Sulfate in Obese Preeclamptic Women Completed NCT02835339 Phase 4 Magnesium sulfate 4g loading dose, 1g/hr infusion;Magnesium sulfate 6g loading dose, 2g/hr infusion
22 Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy Completed NCT01912677 Phase 4 Nifedipine;Labetalol;Methyldopa
23 Effectiveness of Postpartum Furosemide on Recovery Blood Pressure in Puerperal Women With Severe Preeclampsia: a Randomized Clinical Trial Completed NCT02163655 Phase 4 FUROSEMIDE;Placebo
24 Randomized Clinical Trial for Effectiveness of Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure Completed NCT01761916 Phase 4 CLONIDINE;CAPTOPRIL
25 A Randomized Open-label Study to Compare the Clinical Outcomes and Magnesium Serum Concentrations Obtained in the Treatment of Severe Preeclampsia With a Repeat Bolus Intravenous Magnesium Sulfate Regimen Administered With the Springfusor Infusion Pump to a Continuous Intravenous Magnesium Sulfate Regimen Completed NCT02091401 Phase 4 Magnesium Sulfate
26 Randomized Controlled Trial of Nitric-oxide Donor (NOD) Isosorbide Mononitrate (IMN) Versus Placebo for Induction of Labor in Pregnancies Complicated by Preeclampsia Completed NCT03171480 Phase 4 Monoket Pill
27 The Effect of 81mg vs 162mg ASA for Preeclampsia Prevention in Obese Women at High Risk for Developing Preeclampsia Recruiting NCT03735433 Phase 4 162mg aspirin dose
28 A Randomized Controlled Trial Comparing Nifedipine and Enalapril in Medical Resources Used in the Postpartum Period Recruiting NCT04236258 Phase 4 NIFEdipine ER;Enalapril
29 Effect of Non-steroidal Anti-inflammatory Use on Blood Pressure in Women With Hypertensive Disorders of Pregnancy: A Randomized Open Label Trial Recruiting NCT03824119 Phase 4 Ibuprofen 600 mg
30 Metformin for Preeclampsia Prevention in Pregnant Women With Type 1 Diabetes Mellitus Recruiting NCT03570632 Phase 4 Metformin
31 Nifedipine XL Versus Placebo for the Treatment of Preeclampsia With Severe Features During Induction of Labor Recruiting NCT04392375 Phase 4 Nifedipine 30 MG;Placebos
32 Personalized Hemodynamically Guided Antihypertensive Treatment in Pregnant Women With Mild to Moderate Hypertension: a Randomized Controlled Trial Recruiting NCT02531490 Phase 4 Labetalol;Nifedipine;Methyldopa
33 Aspirin to Prevent Cardiac Dysfunction in Preeclampsia Recruiting NCT04479072 Phase 4 Aspirin 81 mg;Placebo
34 Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia Recruiting NCT04797949 Phase 4 Low-dose aspirin
35 Efficacy of 17-Hydroxyprogesterone Caproate in Expectantly Managed Early-onset Preeclampsia: A Randomized Controlled Study Recruiting NCT04077853 Phase 4 17 Hydroxyprogesterone Capronate
36 Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies--A Multicenter, Prospective, Open, Randomized, Controlled Clinical Trial Recruiting NCT04051567 Phase 4 Aspirin 100mg
37 Lignocaine Nebulization for Attenuation of Intubation Stress Response in Patients With Severe Pre-eclampsia: a Prospective Double-blinded Placebo-controlled Trial Not yet recruiting NCT04441073 Phase 4 Lignocaine;Placebo
38 A Prospective Randomized Clinical Research Trial Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 and Those Receiving Tdap Vaccinations at Week 36 Not yet recruiting NCT04424693 Phase 4 Tdap Vaccine Administration
39 The Effectiveness of Low-dose Aspirin on Preventing Pre-eclampsia in High-risks Pregnant Women Not yet recruiting NCT04656665 Phase 4 Aspirin
40 A Prospective Muti-center Study of Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort Not yet recruiting NCT04631627 Phase 4 Aspirin
41 Impact of Vasopressor Administration on Maternal and Neonatal Outcomes in Women With Pre-eclampsia Terminated NCT02025426 Phase 4 Phenylephrine;Ephedrine
42 Acute Control of Chronic Hypertension in Preeclampsia Terminated NCT03877692 Phase 4 Experimental dosing of labetalol
43 Acute Labetalol Use in Preeclampsia Randomized Trial Terminated NCT03872336 Phase 4 Experimental labetalol dose
44 Effectiveness and Safety of 1g/Hour vs. 2g/Hour of Magnesium Sulfate Maintenance Dose for Eclampsia Prevention: Randomized Clinical Trial Terminated NCT02396030 Phase 4 Magnesium sulfate 50% - 1g/h;Magnesium sulfate 50% - 2g/h
45 A Pragmatic Randomized Study Comparing 81 mg Aspirin Versus 162 mg Aspirin in the Prevention of Preeclampsia During Pregnancy Withdrawn NCT04158830 Phase 4 Aspirin 81 mg Enteric Coated Tab - 1 tablet;Aspirin 81 mg Enteric Coated Tab - 2 tablets
46 Clinical Effect of Atenativ Treatment on Uterine Blood Flow and the Amount of Atenativ Needed to Maintain a Normal Antithrombin Lvels During Two Weeks in Early and Severe Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
47 Prospects for the Prevention of Pregnancy-induced Hypertension and Preeclampsia (4P) - a Randomised, Placebo-controlled, Double-blind Clinical Trial Unknown status NCT02007837 Phase 3 Combined aspirin and multinutrient supplement
48 Treatment of Severe Hypertension During Pre-Eclampsia.A Preliminary Equivalence Study Between URAPIDIL and NICARDIPINE Unknown status NCT00409253 Phase 3 URAPIDIL (EUPRESSYL*);NICARDIPINE
49 Oral Nifedipine Versus IV Labetalol in Treatment of Severe Pre Eclampsia in Pregnancy Unknown status NCT03325348 Phase 2, Phase 3 Nifedipine 10 mg;Labetalol
50 Use of Sildenafil Citrate in Management of Mild Pre-eclampsia: A Randomized Controlled Trial Unknown status NCT03262961 Phase 2, Phase 3 Sildenafil 20 MG;Placebo Oral Tablet

Search NIH Clinical Center for Preeclampsia/eclampsia 1

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


Magnesium Sulfate

Genetic Tests for Preeclampsia/eclampsia 1

Genetic tests related to Preeclampsia/eclampsia 1:

# Genetic test Affiliating Genes
1 Preeclampsia/eclampsia 1 29 NOS3

Anatomical Context for Preeclampsia/eclampsia 1

MalaCards organs/tissues related to Preeclampsia/eclampsia 1:

40
Endothelial, Placenta, Liver, Whole Blood, Neutrophil, Thymus, Kidney

Publications for Preeclampsia/eclampsia 1

Articles related to Preeclampsia/eclampsia 1:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. 57
28628106 2017
2
Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsia. 57
25143393 2015
3
HELLP babies link a novel lincRNA to the trophoblast cell cycle. 57
23093777 2012
4
Assessment, surveillance and prognosis in pre-eclampsia. 57
21459048 2011
5
Pre-eclampsia: pathophysiology, diagnosis, and management. 57
21822394 2011
6
Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands. 57
18612323 2008
7
Angiotensin receptor agonistic autoantibodies induce pre-eclampsia in pregnant mice. 57
18660815 2008
8
Deficiency in catechol-O-methyltransferase and 2-methoxyoestradiol is associated with pre-eclampsia. 57
18469803 2008
9
Extremely skewed X-chromosome inactivation is increased in pre-eclampsia. 57
17115188 2007
10
Disentangling fetal and maternal susceptibility for pre-eclampsia: a British multicenter candidate-gene study. 57
15889386 2005
11
The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia. 57
16059745 2005
12
Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study. 57
15384082 2004
13
Combinations of maternal KIR and fetal HLA-C genes influence the risk of preeclampsia and reproductive success. 57
15477349 2004
14
Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation. 57
14673478 2004
15
Circulating angiogenic factors and the risk of preeclampsia. 57
14764923 2004
16
The genetics of pre-eclampsia: a feto-placental or maternal problem? 57
12859402 2003
17
Excess placental soluble fms-like tyrosine kinase 1 (sFlt1) may contribute to endothelial dysfunction, hypertension, and proteinuria in preeclampsia. 57
12618519 2003
18
Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia. 57
12173035 2002
19
Paternal contribution to the risk for pre-eclampsia. 57
11826024 2002
20
A genome-wide scan for preeclampsia in the Netherlands. 57
11781687 2001
21
A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia. 57
11283205 2001
22
Paternal and maternal components of the predisposition to preeclampsia. 57
11259719 2001
23
Pathogenesis and genetics of pre-eclampsia. 57
11197372 2001
24
A genome scan in families from Australia and New Zealand confirms the presence of a maternal susceptibility locus for pre-eclampsia, on chromosome 2. 57
11035632 2000
25
Expression and relationship between endothelin-1 messenger ribonucleic acid (mRNA) and inducible/endothelial nitric oxide synthase mRNA isoforms from normal and preeclamptic placentas. 57
10852470 2000
26
Excessive placental secretion of neurokinin B during the third trimester causes pre-eclampsia. 57
10866201 2000
27
The detection, investigation and management of hypertension in pregnancy: full consensus statement. 57
10925900 2000
28
Methylenetetrahydrofolate reductase 677 C --> T polymorphism, plasma folate, vitamin B(12) concentrations, and risk of preeclampsia among black African women from Zimbabwe. 57
10655155 2000
29
Glutathione S-transferase isoenzymes in decidua and placenta of preeclamptic pregnancies. 57
10576196 1999
30
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13. 57
10441346 1999
31
Twin mothers, pregnancy hypertension and pre-eclampsia. 57
10426615 1999
32
Patients with preeclampsia develop agonistic autoantibodies against the angiotensin AT1 receptor. 57
10194466 1999
33
Increased frequency of genetic thrombophilia in women with complications of pregnancy. 57
9878639 1999
34
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 57
9459326 1998
35
Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region. 57
9311740 1997
36
Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. 57
9192280 1997
37
A genomewide linkage study of preeclampsia/eclampsia reveals evidence for a candidate region on 4q. 57
9150163 1997
38
HELLP syndrome associated with factor V R506Q mutation. 57
8616100 1996
39
Concerns about the genetics of pre-eclampsia. 57
8488831 1993
40
An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance. 57
1550119 1992
41
Is genetic susceptibility to pre-eclampsia conferred by homozygosity for the same single recessive gene in mother and fetus? 57
1760418 1991
42
Genetic and familial predisposition to eclampsia and pre-eclampsia in a defined population. 57
2242360 1990
43
Absence of close linkage between maternal genes for susceptibility to pre-eclampsia/eclampsia and HLA DR beta. 57
1975853 1990
44
Association between susceptibility to pre-eclampsia within families and HLA DR4. 57
2572795 1989
45
Genetics of pre-eclampsia. 57
2901618 1988
46
Genetic control of susceptibility to eclampsia and miscarriage. 57
3415930 1988
47
The classification and definition of the hypertensive disorders of pregnancy. 57
3364501 1988
48
Genetics of hypertension in pregnancy: possible single gene control of pre-eclampsia and eclampsia in the descendants of eclamptic women. 57
3768285 1986
49
Hypertension in pregnancy: clinical-pathological correlations and remote prognosis. 57
7242320 1981
50
Genetic control of pre-eclampsia. 57
6102633 1980

Variations for Preeclampsia/eclampsia 1

ClinVar genetic disease variations for Preeclampsia/eclampsia 1:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely pathogenic 159398 rs587784177 GRCh37: 5:176710828-176710828
GRCh38: 5:177283827-177283827
2 MEGF6 and overlap with 1 gene(s) Duplication not provided 156727 GRCh37: 1:3411413-3431235
GRCh38: 1:3494849-3514671
3 overlap with 3 genes Deletion not provided 156753 GRCh37: 1:145625979-145762959
GRCh38:
4 KIF26B NM_018012.4(KIF26B):c.1166+53868_1166+59172del Deletion not provided 156775 GRCh37: 1:245636915-245642219
GRCh38: 1:245473613-245478917
5 SOX11 Duplication not provided 156778 GRCh37: 2:4677905-5958997
GRCh38:
6 LOC730100 NR_135237.1(LOC730100):n.754-62628_754-62323del Deletion not provided 156787 rs1553354646 GRCh37: 2:51926598-51926903
GRCh38: 2:51699460-51699765
7 REV1 NM_016316.4(REV1):c.351-3232_513dup Duplication not provided 156801 GRCh37: 2:100055762-100055763
GRCh38: 2:99439300-99439301
8 LRP1B NM_018557.2(LRP1B):c.344-65793_344-61550del Deletion not provided 156805 GRCh37: 2:142073760-142078003
GRCh38: 2:141316191-141320434
9 BAZ2B and overlap with 1 gene(s) NM_001282805.1(MARCH7):c.-247472_-1723dup Duplication not provided 156809 GRCh37: 2:160321788-160567537
GRCh38: 2:159465277-159711026
10 ACSL3 Duplication not provided 156824 GRCh37: 2:223798501-223823141
GRCh38: 2:222933783-222958423
11 TM4SF20 NM_024795.3(TM4SF20):c.-14304_183+492dup Duplication not provided 156825 GRCh37: 2:228243310-228258288
GRCh38: 2:227378594-227393572
12 overlap with 5 genes NR_110592.1(LINC01238):n.972-495_131503del Deletion not provided 156831 GRCh37: 2:242917734-243048760
GRCh38: 2:241975583-242106609
13 ARPP21 Duplication not provided 156845 GRCh37: 3:35826707-35902885
GRCh38: 3:35785215-35861393
14 CTDSPL NM_001008392.1(CTDSPL):c.80-8666_80-2299del Deletion not provided 156846 GRCh37: 3:37979882-37986249
GRCh38: 3:37938391-37944758
15 SFMBT1 NM_016329.4(SFMBT1):c.-130-31769_-130-30020del Deletion not provided 156849 GRCh37: 3:53033294-53035043
GRCh38: 3:52999278-53001027
16 overlap with 2 genes Deletion not provided 156868 GRCh37: 3:75428675-75605157
GRCh38: 3:75379524-75556006
17 overlap with 5 genes NR_031714.1(MIR1324):n.-251239_47012del Deletion not provided 156869 GRCh37: 3:75428675-75726925
GRCh38: 3:75379524-75677774
18 overlap with 2 genes Duplication not provided 156877 GRCh37: 3:100351696-100437892
GRCh38: 3:100632852-100719048
19 LINC01322 NR_125764.1(LINC01322):n.201-50931_201-19041del Deletion not provided 156896 GRCh37: 3:165041116-165073006
GRCh38: 3:165323328-165355218
20 NLGN1 NM_014932.4(NLGN1):c.-320-82616_-320-21032dup Duplication not provided 156899 GRCh37: 3:173239453-173301037
GRCh38: 3:173521663-173583247
21 ARHGAP24 NM_001025616.2(ARHGAP24):c.-186452_-21+35669dup Duplication not provided 156924 GRCh37: 4:86210281-86432381
GRCh38: 4:85289128-85511228
22 ZDHHC11 Deletion not provided 156952 GRCh37: 5:788646-840717
GRCh38: 5:788531-840602
23 ZDHHC11 Deletion not provided 156953 GRCh37: 5:788646-821726
GRCh38: 5:788531-821611
24 overlap with 2 genes Deletion not provided 156966 GRCh37: 5:9902403-9924597
GRCh38: 5:9902291-9924485
25 LOC101927078 and overlap with 1 gene(s) Deletion not provided 156994 GRCh37: 5:113874136-113986223
GRCh38: 5:114538439-114650526
26 overlap with 6 genes NR_002812.3(HCG26):n.-83887_14635dup Duplication not provided 157007 GRCh37: 6:31355119-31453640
GRCh38: 6:31387342-31485863
27 NHSL1 Deletion not provided 157028 GRCh37: 6:138909908-138929434
GRCh38: 6:138588771-138608297
28 AKAP12 NM_005100.4(AKAP12):c.163-8647_163-5271del Deletion not provided 157031 GRCh37: 6:151618235-151621611
GRCh38: 6:151297100-151300476
29 VWDE Deletion not provided 157040 GRCh37: 7:12418602-12422721
GRCh38: 7:12378976-12383095
30 ZNF716 Duplication not provided 157054 GRCh37: 7:57481104-57621951
GRCh38:
31 IMMP2L NM_001244606.1(IMMP2L):c.239+53584_239+101346del Deletion not provided 157068 GRCh37: 7:111025948-111073710
GRCh38: 7:111385892-111433654
32 MGAM Deletion not provided 157072 GRCh37: 7:141774290-141793419
GRCh38: 7:142074490-142093619
33 MTUS1 NM_001001924.2(MTUS1):c.2288-795_2449+390del Deletion not provided 157106 GRCh37: 8:17580791-17582137
GRCh38: 8:17723282-17724628
34 overlap with 3 genes Duplication not provided 157161 GRCh37: 10:47049547-47940417
GRCh38:
35 NRG3 NM_001010848.3(NRG3):c.824-173790_824-159316del Deletion not provided 157180 GRCh37: 10:83944705-83959179
GRCh38: 10:82184949-82199423
36 overlap with 3 genes Duplication not provided 157191 GRCh37: 10:135252347-135378802
GRCh38: 10:133438843-133565298
37 ASCL3 Deletion not provided 157195 GRCh37: 11:8959020-8964938
GRCh38: 11:8937473-8943391
38 OR4C12 Duplication not provided 157204 GRCh37: 11:49977336-50668400
GRCh38:
39 overlap with 3 genes NM_001004708.1(OR4D6):c.-19514_20175del Deletion not provided 157205 GRCh37: 11:59204920-59244608
GRCh38: 11:59437447-59477135
40 overlap with 3 genes NM_001267803.1(PAAF1):c.*451_*70114dup Duplication not provided 157207 GRCh37: 11:73638858-73708521
GRCh38: 11:73927813-73997476
41 PCF11 Duplication not provided 157217 GRCh37: 11:82865518-82876270
GRCh38: 11:83154476-83165228
42 CACNA1C NM_000719.6(CACNA1C):c.477+16040_477+23328del Deletion not provided 157232 GRCh37: 12:2245636-2252924
GRCh38: 12:2136470-2143758
43 overlap with 5 genes Duplication not provided 157237 GRCh37: 12:7930171-8102386
GRCh38: 12:7777575-7949790
44 LMNTD1 NM_001145728.2(LMNTD1):c.*22+2227_*22+7996del Deletion not provided 157244 GRCh37: 12:25648676-25654445
GRCh38: 12:25495742-25501511
45 overlap with 2 genes Duplication not provided 157255 GRCh37: 12:63942649-64118558
GRCh38: 12:63548869-63724778
46 SCARB1 GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3 copy number gain not provided 221855 GRCh37: 12:125260645-125321461
GRCh38:
47 NRDE2 Duplication not provided 157320 GRCh37: 14:90788934-90802050
GRCh38: 14:90322590-90335706
48 NIPA1 Deletion not provided 157329 GRCh37: 15:23084443-23114374
GRCh38:
49 PWRN3 Duplication not provided 157333 GRCh37: 15:24594816-24742652
GRCh38: 15:24349669-24497505
50 overlap with 16 genes Deletion not provided 157338 GRCh37: 15:30369914-31089526
GRCh38: 15:30077711-30797323

Expression for Preeclampsia/eclampsia 1

Search GEO for disease gene expression data for Preeclampsia/eclampsia 1.

Pathways for Preeclampsia/eclampsia 1

GO Terms for Preeclampsia/eclampsia 1

Sources for Preeclampsia/eclampsia 1

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10 dbSNP
11 DGIdb
17 EFO
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