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 56 29 39
Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 56 13 6
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 58
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 73
Early-Onset Hypertension with Exacerbation in Pregnancy 58
Pseudohyperaldosteronism Type 2 58
Hypertensive Disease 71
Eohsep 73

Characteristics:

HPO:

31
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare gynaecological and obstetric diseases


External Ids:

OMIM 56 605115
MeSH 43 D006973
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 72 C1854631
Orphanet 58 ORPHA88660
MedGen 41 C1854631
UMLS 71 C0020538

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

UniProtKB/Swiss-Prot : 73 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 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:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 decreased circulating aldosterone level 31 HP:0004319
3 maternal hypertension 31 HP:0008071
4 decreased circulating renin level 31 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 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
4
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
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
Pseudoephedrine Approved Phase 4 90-82-4 7028
9
Ephedrine Approved Phase 4 299-42-3 9294
10
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
11
Morphine Approved, Investigational Phase 4 57-27-2 5288826
12
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
13
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
14
Labetalol Approved Phase 4 36894-69-6 3869
15
Nifedipine Approved Phase 4 21829-25-4 4485
16
Acetaminophen Approved Phase 4 103-90-2 1983
17
Ibuprofen Approved Phase 4 15687-27-1 3672
18
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
19
tannic acid Approved Phase 4 1401-55-4
20
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
21
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
22
Misoprostol Approved Phase 4 59122-46-2 5282381
23
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
24 Contraceptive Agents Phase 4
25 Estradiol 17 beta-cypionate Phase 4
26 Contraceptive Agents, Male Phase 4
27 Estradiol 3-benzoate Phase 4
28 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
29
Cyproterone Phase 4 2098-66-0 5284537
30 Androgens Phase 4
31 Androgen Antagonists Phase 4
32 Antihypertensive Agents Phase 4
33 Anesthetics Phase 4
34 Central Nervous System Depressants Phase 4
35 Vasoconstrictor Agents Phase 4
36 Calcium, Dietary Phase 4
37 Anesthetics, Local Phase 4
38 Sympathomimetics Phase 4
39 Adrenergic Agonists Phase 4
40 Neurotransmitter Agents Phase 4
41 Respiratory System Agents Phase 4
42 Analgesics, Opioid Phase 4
43 Nasal Decongestants Phase 4
44 Autonomic Agents Phase 4
45 Protective Agents Phase 4
46 Mydriatics Phase 4
47 Adrenergic Agents Phase 4
48 Adrenergic alpha-Antagonists Phase 4
49 Adrenergic Antagonists Phase 4
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show all 31)
# 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 Maturational Changes in Cardiac Structures -- Blood Pressure Relationship -- SCOR in Hypertension Completed NCT00005469
16 Hypertension of Our Patients: Knowledge, Control, Comorbidity Completed NCT01998022
17 Cloud BP System Integrated With CPOE Improves Self-Management of the Hypertensive Patients: A Randomized Controlled Trial Study Completed NCT02175511
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 Renal Denervation in Treatment Resistant Hypertension Recruiting NCT01687725
21 The Use of the Cerebro-placental Ratio to Predict Adverse Outcomes in Pregnancies Complicated by Gestational Diabetes Recruiting NCT03072563
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 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
28 Antenatal Management Based on Transvaginal Ultrasound Cervical Length Screening for Preventing Preterm Birth Not yet recruiting NCT04104984 Early Phase 1 Progesterone Vaginal Suppository;Tocolytic Agents
29 Bioimpedance In Pregnancy and Labour: A Fluid Balance Concept Study. Not yet recruiting NCT03823820
30 The Impact of Interleukin-10 in the Invasion Capacity and Immunoregulation During Pregnancy: the Implications of Pathogenesis of Pre-Eclampsia. Terminated NCT00154934
31 Evaluation of Transcranial Doppler Vasoconstrictor Vasoreactivity During General Anesthesia in Hypertensive Patients Withdrawn NCT03897790

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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:

40
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 2553)
# Title Authors PMID Year
1
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. 56 6
10884226 2000
2
Twins versus singleton pregnancies: outcomes in small for gestational age late preterm deliveries. 61
30078342 2020
3
Cost Effectiveness of Antenatal Lifestyle Interventions for Preventing Gestational Diabetes and Hypertensive Disease in Pregnancy. 61
32026397 2020
4
Does the AQHI reduce cardiovascular hospitalization in Hong Kong's elderly population? 61
31801101 2020
5
Cardiovascular Function in Obstructive Sleep Apnea Patients with Controlled Hypertension. 61
32026418 2020
6
Harmonising research outcomes for polycystic ovary syndrome: an international multi-stakeholder core outcome set. 61
32020203 2020
7
Risks of cause-specific mortality in offspring of pregnancies complicated by hypertensive disease of pregnancy. 61
31336073 2020
8
Early gestational diabetes screening in obese women: a randomized controlled trial. 61
31926951 2020
9
Development of a prediction model to target screening for high blood pressure in children. 61
31981642 2020
10
Central hemodynamics are associated with fetal outcomes in pregnancies of advanced maternal age. 61
31923879 2019
11
Cardiovascular Disease and hospital admissions in African immigrants and former Soviet Union immigrants: A retrospective cohort study. 61
31477314 2019
12
Comparison of four prognostic scales for predicting mortality in patients with severe maternal morbidity. 61
31810578 2019
13
Prevalence and determinants of stillbirth in Nigerian referral hospitals: a multicentre study. 61
31888536 2019
14
Urban-rural comparisons in health risk factor, health status and outcomes in Tianjin, China: A cross-sectional survey (2009-2013). 61
31614059 2019
15
The association between high particulate matter pollution and daily cause-specific hospital admissions: a time-series study in Yichang, China. 61
31848968 2019
16
Initial-onset symptoms of preeclampsia and their relation to pregnancy outcomes. 61
31790312 2019
17
Maternal diabetes during pregnancy and early onset of cardiovascular disease in offspring: population based cohort study with 40 years of follow-up. 61
31801789 2019
18
[The remote results of treatment of ischemic stroke conditioned by atherosclerotic affection of carotid arteries]. 61
31884766 2019
19
Dysregulated expression of ACTN4 contributes to endothelial cell injury via the activation of the p38-MAPK/p53 apoptosis pathway in preeclampsia. 61
31399951 2019
20
The predictive capacity of uterine artery Doppler for preterm birth-A cohort study. 61
31715024 2019
21
Impact of Perinatal Different Intrauterine Environments on Child Growth and Development: Planning and Baseline Data for a Cohort Study. 61
31714249 2019
22
Placental bed research: I. The placental bed: from spiral arteries remodeling to the great obstetrical syndromes. 61
31163132 2019
23
The Steroid Profile of Adrenal Incidentalomas: Subtyping Subjects With High Cardiovascular Risk. 61
31381072 2019
24
Genetically determined serum urate levels and cardiovascular and other diseases in UK Biobank cohort: A phenome-wide mendelian randomization study. 61
31626644 2019
25
A new customised placental weight standard redefines the relationship between maternal obesity and extremes of placental size and is more closely associated with pregnancy complications than an existing population standard. 61
31587680 2019
26
Obstetric Complications of Donor Egg Conception Pregnancies. 61
31598040 2019
27
Nitric Oxide in the Prevention of Pre-eclampsia (NOPE): A Double-Blind Randomized Placebo-Controlled Trial Assessing the Efficacy of Isosorbide Mononitrate in the Prevention of Pre-eclampsia in High-Risk Women. 61
31686742 2019
28
Association of Cardiovascular Disease With Premature Mortality in the United States. 61
31617863 2019
29
Peripartum Cardiomyopathy: A Review. 61
31534832 2019
30
Influence of intrauterine growth restriction on caesarean delivery risk among preterm pregnancies undergoing induction of labor for hypertensive disease. 61
31290217 2019
31
Associating 197 Chinese herbal medicine with drug targets and diseases using the similarity ensemble approach. 61
31530902 2019
32
A National Dataset Analysis of older adults in emergency department observation units. 61
30563716 2019
33
SAFE@HOME - Feasibility study of a telemonitoring platform combining blood pressure and preeclampsia symptoms in pregnancy care. 61
31330428 2019
34
[Maternal deaths in Sweden: Diagnostics and clinical management could be improved]. 61
31573669 2019
35
[Participation of Sphingolipids in the Pathogenesis of Atherosclerosis]. 61
31397233 2019
36
Telemonitoring for hypertensive disease in pregnancy. 61
31282755 2019
37
Alterations on a key nephrogenic/cardiogenic gene expression linked to hypertension development. 61
31472952 2019
38
A Comparative Study on the Memory-Enhancing Actions of Oral Renin-Angiotensin System Altering Drugs in Scopolamine-Treated Mice. 61
31106575 2019
39
Cardiac output measurements during high-risk Cesarean section using electrical bioreactance or arterial waveform analysis: assessment of agreement. 61
30302868 2019
40
Wave reflection in an anatomical model of the pulmonary circulation in local and global hypertensive disease. 61
31946976 2019
41
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). 61
31345965 2019
42
Professional Driver's Job Stress and 8-year Risk of Cardiovascular Disease: The Taiwan Bus Driver Cohort Study. 61
31181005 2019
43
Right ventricular dysfunction in arterial hypertension: still terra incognita? 61
31076653 2019
44
Transfer Entropy in Artificial and Cardiovascular Environment in Stress. 61
31945998 2019
45
Pattern of cardiac remodelling of the left ventricle in patients with essential hypertensive disease and concomitant type 2 diabetes mellitus. 61
31345920 2019
46
The immature platelet fraction in hypertensive disease during pregnancy. 61
30810879 2019
47
ATP release drives heightened immune responses associated with hypertension. 61
31253642 2019
48
Effects of context-aware patient guidance on blood pressure self-measurement adherence levels. 61
28701078 2019
49
In-utero and perinatal influences on suicide risk: a systematic review and meta-analysis. 61
31029623 2019
50
The differences in brain stem transcriptional profiling in hypertensive ISIAH and normotensive WAG rats. 61
32039698 2019

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR3C2 NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu)SNV Pathogenic 8557 rs41511344 4:149073701-149073701 4:148152550-148152550

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

73
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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