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PEE1
MCID: PRC031
MIFTS: 42

Preeclampsia/eclampsia 1 (PEE1)

Categories: Blood diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Preeclampsia/eclampsia 1

About this section

MalaCards integrated aliases for Preeclampsia/eclampsia 1:

Name: Preeclampsia/eclampsia 1 57 13
Preeclampsia/eclampsia, Type 1 40
Toxemia of Pregnancy 57
Pregnancy Toxemias 55
Pre-Eclampsia 72
Preg1 57
Pee1 57
Pee 57

Characteristics:

OMIM:

57
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:

32
preeclampsia/eclampsia 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

MedGen 42 C0032914
UMLS 72 C0032914
Sources

Summaries for Preeclampsia/eclampsia 1

About this section
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)

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 NSD1 (Nuclear Receptor Binding SET Domain Protein 1). The drugs Dinoprostone and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include endothelial, testes and liver, and related phenotypes are hypertension and seizures

Sources

Related Diseases for Preeclampsia/eclampsia 1

About this section

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 141)
# Related Disease Score Top Affiliating Genes
1 eclampsia 31.4 SERPINC1 PEE1
2 pre-eclampsia 31.0 SERPINC1 NSD1
3 thrombotic thrombocytopenic purpura 11.3
4 hydrops, lactic acidosis, and sideroblastic anemia 10.4
5 retinal detachment 10.3
6 chlamydia 10.3
7 cystitis 10.3
8 mild pre-eclampsia 10.3
9 severe pre-eclampsia 10.2
10 inflammatory bowel disease 10.2
11 hepatic coma 10.2
12 hepatic encephalopathy 10.2
13 interstitial cystitis 10.2
14 constipation 10.2
15 irritable bowel syndrome 10.2
16 encephalopathy 10.2
17 disseminated intravascular coagulation 10.2
18 hypertension, essential 10.1
19 hypertensive retinopathy 10.1
20 placental abruption 10.1
21 asparagus, specific smell hypersensitivity 10.0
22 celiac disease 1 10.0
23 cystinosis, nephropathic 10.0
24 cystinosis, late-onset juvenile or adolescent nephropathic type 10.0
25 stroke, ischemic 10.0
26 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
27 cystinosis 10.0
28 gestational diabetes 10.0
29 nephrotic syndrome 10.0
30 uveitis 10.0
31 acute cystitis 10.0
32 transitional cell carcinoma 10.0
33 vaccinia 10.0
34 cerebrovascular disease 10.0
35 lysosomal disease 10.0
36 hydatidiform mole, recurrent, 1 10.0
37 renal hypertension 10.0
38 pyelonephritis 10.0
39 thrombocytopenia 10.0
40 retinal vascular occlusion 10.0
41 vascular disease 10.0
42 retinal vascular disease 10.0
43 glomerulonephritis 10.0
44 anuria 10.0
45 purpura 10.0
46 gestational trophoblastic neoplasm 10.0
47 gestational trophoblastic tumor 10.0
48 pain agnosia 10.0
49 malignant hypertension 10.0
50 blood coagulation disease 10.0

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



Diseases related to Preeclampsia/eclampsia 1
Sources

Symptoms & Phenotypes for Preeclampsia/eclampsia 1

About this section

Human phenotypes related to Preeclampsia/eclampsia 1:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 seizures 32 HP:0001250
3 proteinuria 32 HP:0000093
4 edema 32 HP:0000969
5 intrauterine growth retardation 32 HP:0001511
6 elevated hepatic transaminase 32 HP:0002910
7 thrombocytopenia 32 HP:0001873
8 preeclampsia 32 HP:0100602
9 eclampsia 32 HP:0100601
10 maternal hypertension 32 HP:0008071

Symptoms via clinical synopsis from OMIM:

57
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

UMLS symptoms related to Preeclampsia/eclampsia 1:


edema, hyperemesis gravidarum
Sources

Drugs & Therapeutics for Preeclampsia/eclampsia 1

About this section

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

(show top 50) (show all 325)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dinoprostone Approved Phase 4 363-24-6 5280360
2
leucovorin Approved Phase 4 58-05-9 143 6006
3
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
4
Enoxaparin Approved Phase 4 9005-49-6 772
5
Dalteparin Approved Phase 4 9005-49-6
6
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
7
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
8
Procaterol Approved, Investigational Phase 4 72332-33-3 688561
9
Captopril Approved Phase 4 62571-86-2 44093
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Phenylephrine Approved Phase 4 59-42-7 6041
12
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
13
Carbetocin Approved, Investigational Phase 4 37025-55-1 16681432 71715
14
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
15
Azithromycin Approved Phase 4 83905-01-5 447043 55185
16
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
17
Alprostadil Approved, Investigational Phase 4 745-65-3 5280723 149351
18
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
19
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
20
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
21
Acetaminophen Approved Phase 4 103-90-2 1983
22
Ibuprofen Approved Phase 4 15687-27-1 3672
23
Desogestrel Approved Phase 4 54024-22-5 40973
24
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
25
Metformin Approved Phase 4 657-24-9 4091 14219
26
Zinc Approved, Investigational Phase 4 7440-66-6 32051
27
Glyburide Approved Phase 4 10238-21-8 3488
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
29
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
30 Folate Phase 4
31 Vitamin B9 Phase 4
32 Vitamin B Complex Phase 4
33 Natriuretic Agents Phase 4
34 diuretics Phase 4
35 Angiotensin-Converting Enzyme Inhibitors Phase 4
36 Sodium Potassium Chloride Symporter Inhibitors Phase 4
37 Antibodies, Antiphospholipid Phase 4
38 calcium heparin Phase 4
39 Heparin, Low-Molecular-Weight Phase 4
40 Adrenergic beta-Agonists Phase 4
41 Adrenergic beta-2 Receptor Agonists Phase 4
42 Albuterol Phase 4
43 Anti-Infective Agents Phase 4
44 Cardiotonic Agents Phase 4
45 Respiratory System Agents Phase 4
46 Nasal Decongestants Phase 4
47 Mydriatics Phase 4
48 Anti-Asthmatic Agents Phase 4
49 Bronchodilator Agents Phase 4
50 Ergocalciferols Phase 4

Interventional clinical trials:

(show top 50) (show all 565)
# Name Status NCT ID Phase Drugs
1 Low Dose Calcium Supplementation to Prevent Preeclampsia: a Cluster Randomized Study Unknown status NCT02338687 Phase 4
2 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline
3 Cardiovascular Performance and Autonomic Reactivity in Formerly Preeclamptic Women With a Contracted Plasma Volume (CAPACITY Trial) Unknown status NCT00117546 Phase 4 alpha methyldopa
4 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
5 Magnesium Deficiency in Cirrhotic Patients Unknown status NCT01894867 Phase 4
6 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
7 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
8 An Open-label Randomized-Controlled Trial of Early Screening Test for Pre-eclampsia and Growth Restriction Completed NCT03674606 Phase 4 Low dose aspirin
9 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
10 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
11 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
12 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
13 Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy Completed NCT01912677 Phase 4 Nifedipine;Labetalol;Methyldopa
14 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%
15 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
16 Effectiveness of Postpartum Furosemide on Recovery Blood Pressure in Puerperal Women With Severe Preeclampsia: a Randomized Clinical Trial Completed NCT02163655 Phase 4 FUROSEMIDE;Placebo
17 A Prospective Multi-centre Randomised Comparison on Induction of Labour With Double-balloon Installation Device Versus Prostaglandin E2 Minprostin Completed NCT01255839 Phase 4 Minprostin
18 Treatment Approaches to Preeclampsia Completed NCT01030627 Phase 4
19 Ethnic Differences in Anti-Hypertensive Medication Response Among Pregnant and Postpartum Patients Completed NCT03506724 Phase 4 Nifedipine;Labetalol
20 Low Molecular Weight Heparin for Treatment of Recurrent Miscarriage With Negative Antiphospholipid Antibodies: a Randomized Controlled Trial Completed NCT01608347 Phase 4 LMWH+Folic acid;Folic Acid
21 Albuterol Dose-Response on Pulmonary Function Testing in Preterm Infants at Risk of Bronchopulmonary Dysplasia Completed NCT02447250 Phase 4 Varied albuterol dose response
22 Randomized Clinical Trial for Effectiveness of Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure Completed NCT01761916 Phase 4 CLONIDINE;CAPTOPRIL
23 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
24 Impact of Vasopressor Administration on Maternal and Neonatal Outcomes in Women With Pre-eclampsia Recruiting NCT02025426 Phase 4 Phenylephrine;Ephedrine
25 Oral Nifedipine Versus Labetalol in Treatment of Postpartum Hypertension Recruiting NCT03449277 Phase 4 Oral Tablet
26 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
27 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. Recruiting NCT03164304 Phase 4 Magnesium Sulfate
28 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
29 Metformin for Preeclampsia Prevention in Pregnant Women With Type 1 Diabetes Mellitus Recruiting NCT03570632 Phase 4 Metformin
30 Personalized Hemodynamically Guided Antihypertensive Treatment in Pregnant Women With Mild to Moderate Hypertension: a Randomized Controlled Trial Recruiting NCT02531490 Phase 4 Labetalol;Nifedipine;Methyldopa
31 Impact of Antichlamydial Treatment on the Rate of Preeclampsia Among Egyptian Primigravidae: a Randomized Controlled Trial Recruiting NCT03233880 Phase 4 Azithromycin 1gm
32 Acute Control of Chronic Hypertension in Preeclampsia Recruiting NCT03877692 Phase 4 Experimental dosing of labetalol
33 Acute Labetalol Use in Preeclampsia Randomized Trial Recruiting NCT03872336 Phase 4 Experimental labetalol dose
34 Carbetocin Versus Misoprostol for Prevention of Postpartum Hemorrhage in Pregnant Women at High Risk Following C.S. Recruiting NCT02277067 Phase 4 Carbetocin;Misoprostol
35 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Recruiting NCT02920593 Phase 4 Vitamin D3
36 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
37 Interaction Between Intravenous Magnesium Sulphate and Neostigmine or Sugammadex for the Reversal of a Rocuronium-induced Neuromuscular Block - A Randomized, Double Blinded, Electrophysiological Study Recruiting NCT03497923 Phase 4 Magnesium Sulfate
38 The Effect of Antibiotics on Latency in Previable Prelabor Rupture of Membranes Between 18 0/7 and 22 6/7 Weeks Gestational Age Recruiting NCT04047849 Phase 4 Antibiotics, oral Azithromycin and oral Amoxicillin
39 Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features Active, not recruiting NCT02911701 Phase 4 Acetaminophen;Ibuprofen
40 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
41 Continuation Versus Discontinuation of Magnesium Sulfate After Delivery in Women With Severe Preeclampsia. A Randomized Controlled Trial Not yet recruiting NCT03318211 Phase 4 Magnesium Sulfate
42 Threshold for Initiation of Medical Treatment for Women With Gestational Diabetes: A Single Site Randomized Trial Not yet recruiting NCT03527537 Phase 4 Insulin;Glyburide;Metformin
43 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
44 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
45 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
46 Investigating the Novel Observation of Right-Left Difference in Uterine Artery Vascular Resistance in Pre-Eclampsia: A Double-Blinded, Randomized, Placebo-Controlled Study to Assess the Dose-Dependent Effect of Epidural Lidocaine on Right-Left Uterine Artery Blood Flow Differences in Pre-Eclampsia, With Healthy Term Pregnant and Non-Pregnant Controls Unknown status NCT00848679 Phase 3 Epidural lidocaine;Epidural lidocaine 2%
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 Carbetocin Versus Oxytocin for Prevention of Postpartum Hemorrhage in Patients With Severe Preeclampsia: a Double Blind Randomized Controlled Trial Unknown status NCT01382732 Phase 3 Carbetocin;Oxytocin
50 Low Dose Aspirin Between 13 and 16 Weeks of Pregnancy for the Prevention of Preeclampsia. Double Blind, Randomized, Controlled Trial. Unknown status NCT01890005 Phase 3 Aspirin;Placebo

Search NIH Clinical Center for Preeclampsia/eclampsia 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Magnesium Sulfate
Sources

Genetic Tests for Preeclampsia/eclampsia 1

About this section
Sources

Anatomical Context for Preeclampsia/eclampsia 1

About this section

MalaCards organs/tissues related to Preeclampsia/eclampsia 1:

41
Endothelial, Testes, Liver, Placenta, Heart, Lung, Whole Blood
Sources

Publications for Preeclampsia/eclampsia 1

About this section

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

Variations for Preeclampsia/eclampsia 1

About this section

ClinVar genetic disease variations for Preeclampsia/eclampsia 1:

6 (show top 50) (show all 140)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 5:176710828-176710828 5:177283827-177283827
2 LOC108281140 ; MEGF6 duplication not provided 1:3411413-3431235 1:3494849-3514671
3 duplication not provided 1:41343608-41378076 1:40877936-40912404
4 deletion not provided 1:97435890-97454547 1:96970334-96988991
5 deletion not provided 1:111926153-111934304 1:111383531-111391682
6 CD160 ; PDZK1 ; RNF115 deletion not provided 1:145625979-145762959 :0-0
7 KIF26B NM_018012.4(KIF26B): c.1166+53868_1166+59172del deletion not provided 1:245636915-245642219 1:245473613-245478917
8 SOX11 duplication not provided 2:4677905-5958997 :0-0
9 deletion not provided 2:49857938-49865140 2:49630800-49638002
10 LOC730100 NR_135237.1(LOC730100): n.754-62628_754-62323del deletion not provided rs1553354646 2:51926599-51926904 2:51699461-51699766
11 NC_000002.11: g.89427986_90240473dup duplication not provided 2:89427986-90240473 :0-0
12 NC_000002.11: g.89427986_91820358dup duplication not provided 2:89427986-91820358 :0-0
13 deletion not provided 2:90094257-90109261 :0-0
14 REV1 duplication not provided 2:100055763-100062163 2:99439301-99445701
15 LRP1B NM_018557.2(LRP1B): c.344-65793_344-61550del deletion not provided 2:142073760-142078003 2:141316191-141320434
16 BAZ2B ; LOC643072 NM_001282805.1(MARCH7): c.-247472_-1723dup duplication not provided 2:160321788-160567537 2:159465277-159711026
17 ACSL3 duplication not provided 2:223798501-223823141 2:222933783-222958423
18 TM4SF20 NM_024795.3(TM4SF20): c.-14304_183+492dup duplication not provided 2:228243310-228258288 2:227378594-227393572
19 LINC01237 ; LINC01238 ; LINC01880 ; LINC01881 ; LOC285097 NR_110592.1(LINC01238): n.972-495_131503del deletion not provided 2:242917734-243048760 2:241975583-242106609
20 ARPP21 duplication not provided 3:35826707-35902885 3:35785215-35861393
21 CTDSPL NM_001008392.1(CTDSPL): c.80-8666_80-2299del deletion not provided 3:37979882-37986249 3:37938391-37944758
22 SFMBT1 NM_016329.4(SFMBT1): c.-130-31769_-130-30020del deletion not provided 3:53033295-53035044 3:52999279-53001028
23 deletion not provided 3:65191847-65214533 3:65206172-65228858
24 deletion not provided 3:65191847-65215804 3:65206172-65230129
25 deletion not provided 3:65191847-65212596 3:65206172-65226921
26 LINC02018 ; LOC112935961 deletion not provided 3:75428675-75605157 3:75379524-75556006
27 FRG2C ; LINC00960 ; LINC02018 ; LOC112935961 ; MIR1324 NR_031714.1(MIR1324): n.-251239_47012del deletion not provided 3:75428675-75726925 3:75379524-75677774
28 ADGRG7 ; TFG duplication not provided 3:100351696-100437892 3:100632852-100719048
29 deletion not provided 3:148964692-148967335 3:149246905-149249548
30 deletion not provided 3:162131408-162142475 3:162413620-162424687
31 LINC01322 NR_125764.1(LINC01322): n.201-50931_201-19041del deletion not provided 3:165041116-165073006 3:165323328-165355218
32 NLGN1 NM_014932.4(NLGN1): c.-320-82616_-320-21032dup duplication not provided 3:173239453-173301037 3:173521663-173583247
33 duplication not provided 4:45817327-45863268 4:45815310-45861251
34 ARHGAP24 NM_001025616.2(ARHGAP24): c.-186452_-21+35669dup duplication not provided 4:86210281-86432381 4:85289128-85511228
35 deletion not provided 4:108065738-108081536 4:107144581-107160379
36 deletion not provided 4:165576740-165587000 4:164655588-164665848
37 ZDHHC11 deletion not provided 5:788646-840717 5:788531-840602
38 ZDHHC11 deletion not provided 5:788646-821726 5:788531-821611
39 deletion not provided 5:7178644-7191074 5:7178531-7190961
40 deletion not provided 5:8708019-8744557 5:8707907-8744445
41 deletion not provided 5:8715360-8744557 5:8715248-8744445
42 LINC02112 deletion not provided 5:9902403-9924597 5:9902291-9924485
43 LINC01957 ; LOC101927078 deletion not provided 5:113874136-113986223 5:114538439-114650526
44 deletion not provided 6:14839778-14845799 6:14839547-14845568
45 deletion not provided 6:19045560-19048773 6:19045329-19048542
46 HCG26 ; HCP5 ; LINC01149 ; MICA ; MICA-AS1 ; MICB-DT NR_002812.3(HCG26): n.-83887_14635dup duplication not provided 6:31355119-31453640 6:31387342-31485863
47 deletion not provided 6:67017494-67047294 6:66307601-66337401
48 deletion not provided 6:67017494-67039740 6:66307601-66329847
49 NHSL1 deletion not provided 6:138909908-138929434 6:138588771-138608297
50 AKAP12 NM_005100.4(AKAP12): c.163-8647_163-5271del deletion not provided 6:151618235-151621611 6:151297100-151300476
Sources

Expression for Preeclampsia/eclampsia 1

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

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GO Terms for Preeclampsia/eclampsia 1

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Sources for Preeclampsia/eclampsia 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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