MCID: PRC031
MIFTS: 51

Preeclampsia/eclampsia 1 malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Preeclampsia/eclampsia 1

Aliases & Descriptions for Preeclampsia/eclampsia 1:

Name: Preeclampsia/eclampsia 1 54 29 13
Preeclampsia 54 25 56 29 52
Toxemia of Pregnancy 25 29
Pre-Eclampsia 25 69
Gestational Proteinuric Hypertension 25
Pregnancy Associated Hypertension 69
Hypertension, Pregnancy-Induced 54
Pregnancy-Induced Hypertension 25
Pregnancy Toxemias 52

Characteristics:

HPO:

32
preeclampsia/eclampsia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 189800
Orphanet 56 ORPHA275555
ICD10 via Orphanet 34 O14.2 O14.9 O14.0 more
UMLS via Orphanet 70 C0032914

Summaries for Preeclampsia/eclampsia 1

OMIM : 54 Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of... (189800) more...

MalaCards based summary : Preeclampsia/eclampsia 1, also known as preeclampsia, is related to pyelonephritis and mitral valve stenosis, and has symptoms including edema, seizures and hypertension. An important gene associated with Preeclampsia/eclampsia 1 is NOS3 (Nitric Oxide Synthase 3), and among its related pathways/superpathways are VEGF Pathway (Qiagen) and VEGF Signaling Pathway. The drugs Remifentanil and Metformin have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 25 Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant.

Related Diseases for Preeclampsia/eclampsia 1

Diseases in the Preeclampsia/eclampsia 1 family:

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

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

(show top 50) (show all 196)
id Related Disease Score Top Affiliating Genes
1 pyelonephritis 29.8 EDN1 NOS3 SERPINC1
2 mitral valve stenosis 29.6 ENG FLT1 VEGFA
3 ischemic optic neuropathy 29.6 APOH SERPINC1 VEGFA
4 myocardial infarction 29.3 EDN1 F5 MTHFR NOS3 PGF SERPINC1
5 preeclampsia/eclampsia 5 12.1
6 preeclampsia/eclampsia 4 12.1
7 preeclampsia/eclampsia 2 11.8
8 preeclampsia/eclampsia 3 11.8
9 pre-eclampsia 11.3
10 hellp syndrome 11.2
11 antiphospholipid syndrome 11.1
12 severe pre-eclampsia 10.9
13 mthfr thermolabile variant 10.8
14 endotheliitis 10.5
15 eclampsia 10.4
16 med13l syndrome 10.4 APOH F5
17 achromatopsia 10.3 ENG FLT1 PGF
18 multiple familial trichoepithelioma 10.3 F5 MTHFR
19 intracranial cysts 10.3 MTHFR NOS3 VEGFA
20 proliferating trichilemmal cyst 10.3 EDN1 NOS3
21 lymphocytic colitis 10.3 APOH F5 SERPINC1
22 laryngeal adenoid cystic carcinoma 10.3 ENG FLT1 VEGFA
23 neuronopathy, distal hereditary motor, type iid 10.3 APOH F5 SERPINC1
24 lubinsky syndrome 10.3 APOH F5 MTHFR
25 isolated plagiocephaly 10.3 FLT1 PGF VEGFA
26 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.3 APOH F5 MTHFR
27 myosclerosis, congenital 10.3 F5 MTHFR SERPINC1
28 neuropathy with hearing impairment 10.3 FLT1 PGF VEGFA
29 absence of innominate vein 10.3 F5 MTHFR
30 spinal cord lipoma 10.3 APOH MTHFR SERPINC1
31 czech dysplasia 10.3 APOH F5 SERPINC1
32 intestinal disaccharidase deficiency 10.3 APOH F5 SERPINC1
33 glutathionuria 10.3 APOH MTHFR NOS3
34 traumatic glaucoma 10.3 EDN1 NOS3 PGF
35 villous adenoma 10.3 F5 MTHFR NOS3
36 central congenital hypothyroidism 10.3 APOH F5 MTHFR
37 ectodermal dysplasia 9, hair/nail type 10.3 EDN1 NOS3 VEGFA
38 achard thiers syndrome 10.3 APOH F5
39 pregnancy loss, recurrent 2 10.3 APOH F5 SERPINC1
40 vaginal discharge 10.3 F5 MTHFR SERPINC1
41 central retinal artery occlusion 10.3 APOH MTHFR SERPINC1
42 zellweger syndrome 10.3 EDN1 NOS3 VEGFA
43 citrullinemia, type ii, neonatal-onset 10.3 FLT1 NOS3 PGF VEGFA
44 neurofibroma of the heart 10.3 F5 MTHFR NOS3 SERPINC1
45 vascular erectile tumor 10.3 APOH F5 MTHFR SERPINC1
46 alcoholic gastritis 10.3 F5 MTHFR SERPINC1
47 hypertrichosis 10.3 APOH F5 MTHFR SERPINC1
48 left-right axis malformations 10.3 APOH F5 MTHFR SERPINC1
49 bullous skin disease 10.3 APOH F5 MTHFR SERPINC1
50 alpha-2-plasmin inhibitor deficiency 10.3 EDN1 MTHFR NOS3 SERPINC1

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



Diseases related to Preeclampsia/eclampsia 1

Symptoms & Phenotypes for Preeclampsia/eclampsia 1

Symptoms by clinical synopsis from OMIM:

189800

Clinical features from OMIM:

189800

Human phenotypes related to Preeclampsia/eclampsia 1:

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

UMLS symptoms related to Preeclampsia/eclampsia 1:


edema, hyperemesis gravidarum, morning sickness

MGI Mouse Phenotypes related to Preeclampsia/eclampsia 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 CORIN EDN1 ENG F5 FLT1 LEP
2 homeostasis/metabolism MP:0005376 9.89 F5 FLT1 HLA-G LEP LNPEP MTHFR
3 embryo MP:0005380 9.76 SERPINC1 VEGFA EDN1 ENG F5 FLT1
4 muscle MP:0005369 9.17 CORIN EDN1 ENG FLT1 LEP NOS3

Drugs & Therapeutics for Preeclampsia/eclampsia 1

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

(show top 50) (show all 388)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4,Phase 2,Phase 1 132875-61-7 60815
2
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
3
Methyldopa Approved Phase 4,Phase 2,Phase 1 555-30-6 38853
4
Selenium Approved, Vet_approved Phase 4,Phase 2,Phase 3 7782-49-2
5
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
6
Zinc Approved Phase 4,Phase 2,Phase 3 7440-66-6 32051 23994
7
Dalteparin Approved Phase 4,Phase 2,Phase 3 9041-08-1
8
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3 9005-49-6 772 46507594
9
Labetalol Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 36894-69-6 3869
10
Ephedrine Approved Phase 4,Phase 3,Phase 2 299-42-3 9294
11
Oxymetazoline Approved Phase 4 1491-59-4 4636
12
Phenylephrine Approved Phase 4 59-42-7 6041
13
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2 90-82-4 7028
14
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
15
Misoprostol Approved Phase 4,Phase 3,Phase 1,Phase 2 59122-46-2 5282381
16
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3 50-02-2 5743
17
Captopril Approved Phase 4 62571-86-2 44093
18
Clonidine Approved Phase 4,Phase 1,Phase 2 4205-90-7 2803
19
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2 2180-92-9, 38396-39-3 2474
20
Levobupivacaine Approved Phase 4 27262-47-1 92253
21
Magnesium Sulfate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 7487-88-9 24083
22
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
23
Furosemide Approved, Vet_approved Phase 4,Phase 2 54-31-9 3440
24
Insulin Lispro Approved Phase 4 133107-64-9
25
Glyburide Approved Phase 4 10238-21-8 3488
26
Nifedipine Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 21829-25-4 4485
27
Acetaminophen Approved Phase 4,Phase 2,Phase 3,Early Phase 1 103-90-2 1983
28
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Early Phase 1 15687-27-1 3672
29
Calcium carbonate Approved Phase 4 471-34-1
30
Amlodipine Approved Phase 4 88150-42-9 2162
31
Desogestrel Approved Phase 4 54024-22-5 40973
32
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-30-3 6037
34
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
35
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 67-97-0 6221 10883523 5280795
36
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 50-14-6 5280793
37 tannic acid Approved, Nutraceutical Phase 4,Phase 3
38 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Phase 1
40 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
41 Anesthetics, General Phase 4,Phase 2,Phase 3,Phase 1
42 Anesthetics, Intravenous Phase 4,Phase 2,Phase 3,Phase 1
43 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
44 Hypnotics and Sedatives Phase 4,Phase 2,Phase 3,Phase 1
45 Narcotics Phase 4,Phase 3,Phase 2,Phase 1
46 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
47 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3
48 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3
49 Sildenafil Citrate Phase 4,Phase 2,Phase 3 171599-83-0
50 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 529)
id Name Status NCT ID Phase
1 Remifentanil for General Anesthesia in Preeclamptics Unknown status NCT00567957 Phase 4
2 Viagra for the Treatment of IUGR Unknown status NCT00347867 Phase 4
3 Effectiveness of Metformin in Recurrent Miscarriage in a Woman With Hyperinsulinaemia Unknown status NCT01718340 Phase 4
4 Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) Unknown status NCT01361425 Phase 4
5 Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia Unknown status NCT00117546 Phase 4
6 Metformin and Gestational Diabetes in High-risk Patients: a RCTs Unknown status NCT00883259 Phase 4
7 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
8 Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4
9 Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure Completed NCT01761916 Phase 4
10 Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia Completed NCT02699827 Phase 4
11 A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen Completed NCT02091401 Phase 4
12 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4
13 Effectiveness Study of Short Course of Magnesium Sulfate for Severe Preeclamsia Completed NCT01408979 Phase 4
14 Treatment Approaches to Preeclampsia Completed NCT01030627 Phase 4
15 A Study of Cerebral-circulatory Response to Intravenous Antihypertensive Treatment in Women With Serious Preeclampsia Completed NCT00403572 Phase 4
16 Hemodynamic Measurements in Women With Serious Preeclampsia Completed NCT00199810 Phase 4
17 Diuretics for Postpartum High Blood Pressure in Preeclampsia Completed NCT02163655 Phase 4
18 Metformin Versus Insulin in Gestational Diabetes Completed NCT01240785 Phase 4
19 Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers Completed NCT01729468 Phase 4
20 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4
21 Treatment of Mild Gestational Diabetes With Glyburide Versus Placebo Completed NCT00744965 Phase 4
22 Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy Recruiting NCT01912677 Phase 4
23 Early Vascular Adjustments During Hypertensive Pregnancy Recruiting NCT02531490 Phase 4
24 The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy Recruiting NCT02891174 Phase 4
25 Low Dose Calcium to Prevent Preeclampsia Recruiting NCT02338687 Phase 4
26 Efficacy and Safety of 1 g Vs 2 g Per Hour Intravenous Maintenance Dose of MgSO4 in Women With Severe Pre-eclampsia Recruiting NCT03164304 Phase 4
27 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Recruiting NCT02920593 Phase 4
28 Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features Recruiting NCT02911701 Phase 4
29 Phenylephrine Versus Ephedrine in Pre-eclampsia Recruiting NCT02025426 Phase 4
30 Atenativ Effect on Uterine Blood Flow and Preeclampsia Recruiting NCT02278575 Phase 4
31 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4
32 Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology Recruiting NCT03177122 Phase 4
33 A Comparison of Oral Misoprostol and Vaginal Misoprostol for Cervical Ripening and Induction of Labor Recruiting NCT02777190 Phase 4
34 Pharmacokinetics of Amlodipine Besylate at Delivery and During Lactation Active, not recruiting NCT02353806 Phase 4
35 Effectivity of Postpartum Dexamethasone for Women With Class I HELLP Syndrome Active, not recruiting NCT00711841 Phase 4
36 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4
37 Failure Rate of GLyburide And Metformin Among Gestational Diabetics Not yet recruiting NCT03078725 Phase 4
38 Different Schemes of Magnesium Sulfate for Preeclampsia Terminated NCT02396030 Phase 4
39 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4
40 Comparison of Awakening Versus Bedtime Dosing of Aspirin in Pre-Hypertension or Mild Essential Hypertension Terminated NCT00449618 Phase 4
41 Randomized Clinical Trial of Labetalol Versus Hydralazine for Severe Hypertension in Obstetric Patients. Unknown status NCT02050529 Phase 2, Phase 3
42 PP13 and Doppler Study to Predict Preeclampsia Unknown status NCT00928213 Phase 2, Phase 3
43 Low Dose Aspirin for the Prevention of Preeclampsia Unknown status NCT01890005 Phase 3
44 Investigating the Novel Observation of Right-Left Difference in Uterine Artery Vascular Resistance in Pre-Eclampsia Unknown status NCT00848679 Phase 3
45 Treatment of Severe Hypertension During Pre-Eclampsia: A Preliminary Equivalence Study Between Urapidil and Nicardipine Unknown status NCT00409253 Phase 3
46 Effect of Micronutrients and Exercise During Pregnancy on Factors Related With Non-Transmissible Chronic Diseases Unknown status NCT00872365 Phase 2, Phase 3
47 Dexamethasone Efficacy in HELLP I Syndrome Unknown status NCT01138839 Phase 3
48 Carbetocin vs. Oxytocin for Prevention of Postpartum Bleeding in Patients With Severe Preeclampsia Unknown status NCT01382732 Phase 3
49 A Randomized Clinical Trial of Oral Magnesium Supplementation in Pregnancy Unknown status NCT02032186 Phase 3
50 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3

Search NIH Clinical Center for Preeclampsia/eclampsia 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Preeclampsia/eclampsia 1

Genetic tests related to Preeclampsia/eclampsia 1:

id Genetic test Affiliating Genes
1 Preeclampsia/eclampsia 1 29
2 Toxemia of Pregnancy 29
3 Preeclampsia 29

Anatomical Context for Preeclampsia/eclampsia 1

MalaCards organs/tissues related to Preeclampsia/eclampsia 1:

39
Liver

Publications for Preeclampsia/eclampsia 1

Variations for Preeclampsia/eclampsia 1

ClinVar genetic disease variations for Preeclampsia/eclampsia 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOS3 NM_000603.4(NOS3): c.894T> G (p.Asp298Glu) single nucleotide variant risk factor rs1799983 GRCh37 Chromosome 7, 150696111: 150696111
2 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828

Copy number variations for Preeclampsia/eclampsia 1 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 44882 10 64500000 74900000 Loss STOX1 Preeclampsia

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

Cellular components related to Preeclampsia/eclampsia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 APOH CORIN EDN1 F5 FLT1 LEP
2 extracellular space GO:0005615 9.32 APOH EDN1 ENG F5 FLT1 LEP

Biological processes related to Preeclampsia/eclampsia 1 according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 EDN1 FLT1 LEP PGF STOX1 VEGFA
2 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.72 FLT1 PGF VEGFA
3 response to hypoxia GO:0001666 9.72 EDN1 LEP MTHFR PGF VEGFA
4 positive regulation of MAP kinase activity GO:0043406 9.69 EDN1 FLT1 VEGFA
5 positive regulation of angiogenesis GO:0045766 9.65 ENG FLT1 NOS3 PGF VEGFA
6 angiogenesis GO:0001525 9.63 ENG FLT1 LEP NOS3 PGF VEGFA
7 regulation of blood vessel size GO:0050880 9.59 EDN1 NOS3
8 positive regulation of p38MAPK cascade GO:1900745 9.58 LEP VEGFA
9 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.58 FLT1 VEGFA
10 induction of positive chemotaxis GO:0050930 9.57 PGF VEGFA
11 negative regulation of blood coagulation GO:0030195 9.56 APOH EDN1
12 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.54 HLA-G LNPEP
13 branching involved in blood vessel morphogenesis GO:0001569 9.54 EDN1 ENG VEGFA
14 ovulation from ovarian follicle GO:0001542 9.52 LEP NOS3
15 response to transforming growth factor beta GO:0071559 9.49 EDN1 ENG
16 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.48 EDN1 NOS3
17 positive regulation of mast cell chemotaxis GO:0060754 9.46 PGF VEGFA
18 negative regulation of smooth muscle cell apoptotic process GO:0034392 9.43 APOH EDN1
19 female pregnancy GO:0007565 9.35 CORIN LEP LNPEP PGF TAC3
20 regulation of blood pressure GO:0008217 9.02 CORIN EDN1 LEP LNPEP NOS3

Molecular functions related to Preeclampsia/eclampsia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.26 APOH PGF SERPINC1 VEGFA
2 vascular endothelial growth factor receptor binding GO:0005172 8.62 PGF VEGFA

Sources for Preeclampsia/eclampsia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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