EOHSEP
MCID: HYP806
MIFTS: 34

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (EOHSEP)

Categories: Cardiovascular diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

MalaCards integrated aliases for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

Name: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 57 29 40
Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 57 13 6
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 59
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 74
Early-Onset Hypertension with Exacerbation in Pregnancy 59
Pseudohyperaldosteronism Type 2 59
Hypertensive Disease 72
Eohsep 74

Characteristics:

HPO:

32
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605115
MeSH 44 D006973
ICD10 via Orphanet 34 I15.1
UMLS via Orphanet 73 C1854631
Orphanet 59 ORPHA88660
MedGen 42 C1854631
UMLS 72 C0020538

Summaries for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

UniProtKB/Swiss-Prot : 74 Early-onset hypertension with severe exacerbation in pregnancy: Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.

MalaCards based summary : Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy, is also known as hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, and has symptoms including tremor, angina pectoris and edema. An important gene associated with Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2). The drugs Ethinyl Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and endothelial, and related phenotypes are hypertension and decreased circulating aldosterone level

More information from OMIM: 605115

Related Diseases for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Symptoms & Phenotypes for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Human phenotypes related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 decreased circulating aldosterone level 32 HP:0004319
3 maternal hypertension 32 HP:0008071
4 decreased circulating renin level 32 HP:0003351

Clinical features from OMIM:

605115

UMLS symptoms related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:


tremor, angina pectoris, edema, chest pain, equilibration disorder

Drugs & Therapeutics for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Drugs for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
5
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
6
Phenylephrine Approved Phase 4 59-42-7 6041
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Morphine Approved, Investigational Phase 4 57-27-2 5288826
9
Ephedrine Approved Phase 4 299-42-3 9294
10
Pseudoephedrine Approved Phase 4 90-82-4 7028
11
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
12
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
13
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
14
Nifedipine Approved Phase 4 21829-25-4 4485
15
Labetalol Approved Phase 4 36894-69-6 3869
16
Acetaminophen Approved Phase 4 103-90-2 1983
17
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
18
Ibuprofen Approved Phase 4 15687-27-1 3672
19
tannic acid Approved Phase 4 1401-55-4
20
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
21
Misoprostol Approved Phase 4 59122-46-2 5282381
22
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
23
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
24 Contraceptive Agents Phase 4
25 Contraceptive Agents, Male Phase 4
26 Androgens Phase 4
27 Hormone Antagonists Phase 4
28
Cyproterone Phase 4 2098-66-0 5284537
29 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
30 Estradiol 3-benzoate Phase 4
31 Estradiol 17 beta-cypionate Phase 4
32 Androgen Antagonists Phase 4
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
34 Antihypertensive Agents Phase 4
35 Anesthetics Phase 4
36 Central Nervous System Depressants Phase 4
37 Vasoconstrictor Agents Phase 4
38 Hormones Phase 4
39 Calcium, Dietary Phase 4
40 Anesthetics, Local Phase 4
41 Sympathomimetics Phase 4
42 Neurotransmitter Agents Phase 4
43 Cardiotonic Agents Phase 4
44 Adrenergic Agonists Phase 4
45 Respiratory System Agents Phase 4
46 Nasal Decongestants Phase 4
47 Adrenergic alpha-Agonists Phase 4
48 Mydriatics Phase 4
49 Analgesics, Opioid Phase 4
50 Protective Agents Phase 4

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 The Effect of Diane-35 Pretreatment on Endocrine and Clinical Profile for Patients With Polycystic Ovary Syndrome Undergoing In-vitro Fertilization Unknown status NCT01752270 Phase 4 Diane-35 pretreatment;Diane-35 pretreatment
2 Effect of Acute Arterial Hypertension on Morphine's Requirements and Postsurgical Pain. Completed NCT01897155 Phase 4
3 Ethnic Differences in Anti-Hypertensive Medication Response Among Pregnant and Postpartum Patients Completed NCT03506724 Phase 4 Nifedipine;Labetalol
4 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
5 A Randomized Trial Comparing Oral Misoprostol Alone With Oral Misoprostol Followed by Oxytocin in Women Induced for Hypertension of Pregnancy Not yet recruiting NCT03749902 Phase 4 Oral misoprostol;Oxytocin
6 Randomized, Double Blind, Active-controlled, Parallel Study to Analyse Effects of the Combination of Aliskiren and Valsartan on the Vascular Structure and Function of Retinal Vessels Completed NCT01318395 Phase 3 Aliskiren;Placebo
7 A Randomized, Double-blind, Placebo-controlled, Cross-over, Multi-center Study Assessing the Safety, Tolerability and Efficacy of SER100 10 mg s.c. Twice Daily for 2 Days in Patients With Isolated Systolic Hypertension Insufficiently Treated With One or More Anti-hypertensives. Completed NCT01987284 Phase 2 SER100;Placebo
8 The Effect of Potatoes on Potassium Retention, Acid Base Balance, and Blood Pressure Active, not recruiting NCT02697708 Phase 1, Phase 2
9 A Study on Medication Adherence and "True" Resistance in Patients Referred to a Medical Outpatient Department in Germany With the Diagnosis "Resistant Hypertension". Unknown status NCT02128386
10 Understanding the Mechanisms of Progressive Decrease in Blood Pressure After Renal Nerve Ablation Unknown status NCT01442883
11 Acupuncture as Applied Technology to Nursing Care Adult Hypertensive: An Experimental Study. Unknown status NCT02530853
12 Observational Multicenter Study Lasting 12 Months to Determine the Prevalence of Pulmonary Hypertension (PAH) in Patients With Thalassemia Major and Intermedia and Verify the Suitability of Common Diagnostic Criteria in This Population Unknown status NCT01496963
13 Effect of Vitamin D3 on Cardiovascular Risk Factors: a Randomized Trial in Human Completed NCT01501916
14 A Multicentre Cross-sectional Study of the Prevalence of Hypertensive Disease in Patients Presenting for Elective Surgery in the Western Cape Completed NCT03157661
15 Hypertension of Our Patients: Knowledge, Control, Comorbidity Completed NCT01998022
16 Cloud BP System Integrated With CPOE Improves Self-Management of the Hypertensive Patients: A Randomized Controlled Trial Study Completed NCT02175511
17 Maturational Changes in Cardiac Structures -- Blood Pressure Relationship -- SCOR in Hypertension Completed NCT00005469
18 Activating Mass Media for Salt Reduction Program by Using Media Reporters as Research Investigators in a Randomized Controlled Trial Completed NCT03074851
19 Circulating Melatonin and 6-hydroxymelatonin Levels During Pregnancy Completed NCT03014245
20 The Use of the Cerebro-placental Ratio to Predict Adverse Outcomes in Pregnancies Complicated by Gestational Diabetes Recruiting NCT03072563
21 Renal Denervation in Treatment Resistant Hypertension Recruiting NCT01687725
22 EASL: European Registry of Liver Disease in Pregnancy Recruiting NCT03834285
23 Use of Meditation as a Complementary Therapy in the Treatment of Gestational Hypertension Recruiting NCT03873194
24 A Systematic Review of Factors Associated With Pulmonary Arterial Hypertension in Systemic Sclerosis Active, not recruiting NCT03889509
25 Collection of Samples From Pregnant Women for the Evaluation of Preeclampsia (Pre-E) Biomarkers Active, not recruiting NCT02780414
26 Randomized Trial to Compare Surgical and Medical Treatments for Type 2 Diabetes (Triabetes) - Alliance of Randomized Trials of Medicine vs. Metabolic Surgery in Type 2 Diabetes ARMMST2D) Active, not recruiting NCT01047735
27 Evaluation of Transcranial Doppler Vasoconstrictor Vasoreactivity During General Anesthesia in Hypertensive Patients Not yet recruiting NCT03897790
28 An Alongside Qualitative Study Exploring Patients' and Health Care Professionals' Expectations and Experiences of Labour Induction With Misoprostol and Oxytocin for Hypertension in Pregnancy in India Not yet recruiting NCT04037683 Misoprostol Oral Tablet;Oxytocin
29 Bioimpedance In Pregnancy and Labour: A Fluid Balance Concept Study. Not yet recruiting NCT03823820

Search NIH Clinical Center for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy

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


Acebutolol
Acebutolol Hydrochloride
Amiloride
Amiloride Hydrochloride
Amlodipine
Amlodipine Besylate
Angelica sinensis preparation
Antihypertensives, Other
Atenolol
benazepril
Benazepril hydrochloride
Bendroflumethiazide
benzthiazide
Bepridil
Bepridil hydrochloride
Betaxolol
Betaxolol Hydrochloride
Bisoprolol
Bisoprolol Fumarate
Bumetanide
candesartan
candesartan cilexetil
Carteolol
Carteolol Hydrochloride
carvedilol
carvedilol phosphate
Chlorothiazide
Chlorothiazide sodium
Chlorthalidone
Clonidine
CLONIDINE HCL PWDR
Clonidine Hydrochloride
coenzyme Q10
cyclothiazide
deserpidine
Diltiazem
Diltiazem Hydrochloride
Diltiazem maleate
DITIAZ
Doxazosin
Doxazosin Mesylate
eplerenone
eprosartan
Eprosartan mesylate
esmolol
Esmolol hydrochloride
Ethacrynate Sodium
Ethacrynic Acid
Felodipine
Fish Oils
Fosinopril
Fosinopril Sodium
Furosemide
Guanabenz
Guanabenz Acetate
guanadrel
Guanadrel sulfate
Guanethidine
Guanethidine Monosulfate
Guanfacine
Guanfacine Hydrochloride
Hydrochlorothiazide
Hydroflumethiazide
Indapamide
irbesartan
Isradipine
Lisinopril
Losartan
Losartan Potassium
Methyclothiazide
Methyldopa
Methyldopate hydrochloride
Metolazone
Metoprolol
metoprolol succinate
Metoprolol Tartrate
Mibefradil
Mibefradil Dihydrochloride
moexipril
Moexipril hydrochloride
Nadolol
Nicardipine
Nicardipine hydrochloride
Nifedipine
Nisoldipine
Oil of garlic
olmesartan
Olmesartan medoxomil
Penbutolol
Penbutolol Sulfate
Perindopril
Perindopril arginine
Perindopril Erbumine
Pindolol
Polythiazide
Prazosin
Prazosin hydrochloride
Propranolol
Propranolol Hydrochloride
quinapril
Quinapril hydrochloride
quinethazone
Ramipril
Reserpine
Spironolactone
SPIRONOLACTONE PWDR
telmisartan
Terazosin
terazosin hydrochloride
Timolol
Timolol Hemihydrate
Timolol Maleate
torsemide
trandolapril
Triamterene
Trichlormethiazide
valsartan
Verapamil
Verapamil hydrochloride

Genetic Tests for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Genetic tests related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

# Genetic test Affiliating Genes
1 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 29 NR3C2

Anatomical Context for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

MalaCards organs/tissues related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

41
Heart, Kidney, Endothelial, Testes, Brain, Liver, Placenta

Publications for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Articles related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

(show top 50) (show all 2522)
# Title Authors PMID Year
1
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. 8 71
10884226 2000
2
[Participation of Sphingolipids in the Pathogenesis of Atherosclerosis]. 38
31397233 2019
3
Telemonitoring for hypertensive disease in pregnancy. 38
31282755 2019
4
A Comparative Study on the Memory-Enhancing Actions of Oral Renin-Angiotensin System Altering Drugs in Scopolamine-Treated Mice. 38
31106575 2019
5
Cardiac output measurements during high-risk Cesarean section using electrical bioreactance or arterial waveform analysis: assessment of agreement. 38
30302868 2019
6
The steroid profile of adrenal incidentalomas: subtyping subjects with high cardiovascular risk. 38
31381072 2019
7
Dysregulated expression of ACTN4 contributes to endothelial cell injury via the activation of the p38-MAPK/p53 apoptosis pathway in preeclampsia. 38
31399951 2019
8
Risks of cause-specific mortality in offspring of pregnancies complicated by hypertensive disease of pregnancy. 38
31336073 2019
9
Influence of intrauterine growth restriction on caesarean delivery risk among preterm pregnancies undergoing induction of labor for hypertensive disease. 38
31290217 2019
10
Relating the number of human leucocytes antigen mismatches to pregnancy complications in oocyte donation pregnancies: study protocol for a prospective multicentre cohort study (DONOR study). 38
31345965 2019
11
Right ventricular dysfunction in arterial hypertension: still terra incognita? 38
31076653 2019
12
SAFE@HOME - Feasibility study of a telemonitoring platform combining blood pressure and preeclampsia symptoms in pregnancy care. 38
31330428 2019
13
Professional Driver's Job Stress and 8-year Risk of Cardiovascular Disease: The Taiwan Bus Driver Cohort Study. 38
31181005 2019
14
Pattern of cardiac remodelling of the left ventricle in patients with essential hypertensive disease and concomitant type 2 diabetes mellitus. 38
31345920 2019
15
The immature platelet fraction in hypertensive disease during pregnancy. 38
30810879 2019
16
Effects of context-aware patient guidance on blood pressure self-measurement adherence levels. 38
28701078 2019
17
ATP release drives heightened immune responses associated with hypertension. 38
31253642 2019
18
In-utero and perinatal influences on suicide risk: a systematic review and meta-analysis. 38
31029623 2019
19
Placental Bed Research: 1. The Placental Bed. From Spiral Arteries Remodeling to the Great Obstetrical Syndromes. 38
31163132 2019
20
Surgical outcome in aortopulmonary window beyond the neonatal period. 38
30900319 2019
21
Correlates of neutrophil/lymphocyte, platelet/lymphocyte, and platelet/neutrophil ratios of neonates of women with hypertensive disease of pregnancy with neonatal birth outcomes. 38
30835575 2019
22
Hypertensive Diseases of Pregnancy Increase Risk of Readmission With Heart Failure: A National Readmissions Database Study. 38
30577972 2019
23
The placental bed vascular pathology revisited: a risk indicator for cardiovascular disease. 38
29172831 2019
24
Interfacility Transport of the Pregnant Patient: A 5-year Retrospective Review of a Single Critical Care Transport Program. 38
30188241 2019
25
Low fetal fraction of cell-free DNA predicts placental dysfunction and hypertensive disease in pregnancy. 38
31056151 2019
26
Potential Protective Role of Blood Pressure-Lowering Drugs on the Balance between Hemostasis and Fibrinolysis in Hypertensive Patients at Rest and During Exercise. 38
30714087 2019
27
Delivery or expectant management for prevention of adverse maternal and neonatal outcomes in hypertensive disorders of pregnancy: an individual participant data meta-analysis. 38
30697855 2019
28
Socioeconomic factors and mortality due to cerebrovascular and hypertensive disease in Brazil. 38
31028004 2019
29
Management of Hypertension in the Obese Pregnant Patient. 38
30915600 2019
30
Clinical efficacy of acute respiratory viral infections prevention in patients with chronic heart failure. 38
31094457 2019
31
Prevalence of colonisation by group B streptococcus in pregnant patients in Taguatinga, Federal District, Brazil: a cross-sectional study. 38
30656444 2019
32
Gestational hypertensive disorders show unique patterns of circulatory deterioration with ongoing pregnancy. 38
30673301 2019
33
Association between endoglin/transforming growth factor beta receptors 1, 2 gene polymorphisms and the level of soluble endoglin with preeclampsia in Egyptian women. 38
30496724 2019
34
Placental growth factor as an indicator of fetal growth restriction in late-onset small-for-gestational age pregnancies. 38
29851029 2019
35
[Estudio sobre la asociación de hipertrigliceridemia con los estados hipertensivos del embarazo]. 38
31182871 2019
36
The Evaluation of a 19-Year-Old With Hypertension and Proteinuria: A Case Report. 38
31064291 2019
37
Hypertensive ocular disease in cats: A guide to fundic lesions to facilitate early diagnosis. 38
30763152 2019
38
Validation of the iHealth Track and Omron HEM-9210T automated blood pressure devices for use in pregnancy. 38
30825925 2019
39
Maternal and perinatal outcomes after elective induction of labor at 39 weeks in uncomplicated singleton pregnancy: a meta-analysis. 38
30298532 2019
40
[A clinical and genetic analysis of risk factors for the development of acute and chronic cerebral ischemia]. 38
31184626 2019
41
Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo. 38
29869755 2018
42
A National Dataset Analysis of older adults in emergency department observation units. 38
30563716 2018
43
Aldosterone and 18-Oxocortisol Coaccumulation in Aldosterone-Producing Lesions. 38
30571232 2018
44
GENDER DISPARITIES OF CIRCULATORY DISEASE PROGRESS IN THE CHORNOBYL ACCIDENT CLEAN-UP WORKERS AND PHOSPHODIESTERASE 4D GENE rs966221 POLYMORPHISM. 38
30582852 2018
45
Influence of Time Interval from Bariatric Surgery to Conception on Pregnancy and Perinatal Outcomes. 38
30027331 2018
46
Prospective observational study to determine the accuracy of first-trimester serum biomarkers and uterine artery Dopplers in combination with maternal characteristics and arteriography for the prediction of women at risk of preeclampsia and other adverse pregnancy outcomes. 38
28714317 2018
47
Erythrocyte heme‑oxygenation status indicated as a risk factor in prehypertension by Raman spectroscopy. 38
30251685 2018
48
Dynamic prediction of childhood high blood pressure in a population-based birth cohort: a model development study. 38
30467134 2018
49
PATHOGENETIC LINKS OF THE COMBINED COURSE OF CHRONIC PANCREATITIS AND HYPERTENSIVE DISEASE AND THEIR ROLE IN THE FORMATION OF COMPLICATIONS. 38
30516499 2018
50
Hypertensive organ damage predicts future cognitive performance: A 9-year follow-up study in patients with hypertension. 38
30277642 2018

Variations for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

ClinVar genetic disease variations for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR3C2 NM_000901.5(NR3C2): c.2429C> T (p.Ser810Leu) single nucleotide variant Pathogenic rs41511344 4:149073701-149073701 4:148152550-148152550

UniProtKB/Swiss-Prot genetic disease variations for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:

74
# Symbol AA change Variation ID SNP ID
1 NR3C2 p.Ser810Leu VAR_015626 rs41511344

Expression for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Search GEO for disease gene expression data for Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy.

Pathways for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

GO Terms for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

Sources for Hypertension, Early-Onset, Autosomal Dominant, with Severe...

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69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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