EOHSEP
MCID: HYP806
MIFTS: 21

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

Categories: Genetic diseases
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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 5 38
Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 57 12 5
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 73
Hypertensive Disease 71
Eohsep 73

Classifications:



External Ids:

OMIM® 57 605115
MeSH 43 D006973
MedGen 40 C1854631
UMLS 71 C0020538

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

UniProtKB/Swiss-Prot: 73 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 angina pectoris, chest pain 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 Angiotensin II and Metoprolol have been mentioned in the context of this disorder. 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 HP:0000822
2 decreased circulating aldosterone level 30 HP:0004319
3 decreased circulating renin level 30 HP:0003351
4 maternal hypertension 30 HP:0008071

Clinical features from OMIM®:

605115 (Updated 24-Oct-2022)

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


angina pectoris; chest pain; edema; tremor; 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 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
3
Methyldopa Approved Phase 4 555-30-6 4138 38853
4
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
5
Ramipril Approved Phase 4 87333-19-5 5362129
6
Nifedipine Approved Phase 4 21829-25-4 4485
7
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
8
Phenylephrine Approved Phase 4 59-42-7 6041
9
Morphine Approved, Investigational Phase 4 57-27-2 5288826
10
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
11
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
12
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
13
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
14
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
15
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
16
Remifentanil Approved Phase 4 132875-61-7 60815
17
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
18
Angiotensinogen Phase 4 16133225
19 Angiotensin Receptor Antagonists Phase 4
20 Angiotensin II Type 1 Receptor Blockers Phase 4
21 Giapreza Phase 4
22 Hormones Phase 4
23 Anesthetics Phase 4
24 Analgesics, Opioid Phase 4
25 Analgesics Phase 4
26 Incretins Phase 4
27 Hormone Antagonists Phase 4
28 Hypoglycemic Agents Phase 4
29 Potassium Supplement Phase 1, Phase 2
30
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
31
Olmesartan Approved, Investigational 144689-63-4, 144689-24-7 158781 130881
32
Amlodipine Approved 88150-42-9 2162
33
Indapamide Approved 26807-65-8 3702
34
Perindopril Approved 82834-16-0, 107133-36-8 107807
35
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
36 Mineralocorticoids
37 Mineralocorticoid Receptor Antagonists
38 Antihypertensive Agents
39 Angiotensin-Converting Enzyme Inhibitors
40
protease inhibitors
41 HIV Protease Inhibitors
42 Sodium Chloride Symporter Inhibitors
43 Calcium, Dietary
44 calcium channel blockers
45 Vasodilator Agents
46 diuretics
47 Micronutrients
48 Calciferol
49 Vitamins
50 Trace Elements

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Phase IV, Effect of Rennin-Angiotensin System Blockers on Glomerular Filtration Rate in Patients With Hypertension, Type 2 Diabetes With Normoalbuminuria--- A Randomized Controlled Trial Unknown status NCT01500590 Phase 4 Renin-angiotensin system blockers;non-renin angiotensin system blockers
2 Effect of Acute Arterial Hypertension on Morphine's Requirements and Postsurgical Pain. Completed NCT01897155 Phase 4
3 To Evaluate the Effect of Liraglutide on Ambulatory Blood Pressure-A Pilot Study Completed NCT02299388 Phase 4 Liraglutide or Placebo
4 The Effect of Potatoes on Potassium Retention, Acid Base Balance, and Blood Pressure Unknown status NCT02697708 Phase 1, Phase 2
5 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
6 Effects of Cardiovascular Risk Screening in Pharmacies: A Randomized Study Unknown status NCT02223793
7 Acupuncture as Applied Technology to Nursing Care Adult Hypertensive: An Experimental Study. Unknown status NCT02530853
8 Prospective, Non-interventional Study for the Recording of Adherence to Treatment With Perindopril/Indapamide/Amlodipine Fixed Dose Combination, in a Greek Population With Hypertension Completed NCT02655029 Perindopril/Indapamide/Amlodipine fixed dose combination
9 Activating Mass Media for Salt Reduction Program by Using Media Reporters as Research Investigators in a Randomized Controlled Trial Completed NCT03074851
10 Effect of Vitamin D3 on Cardiovascular Risk Factors: a Randomized Trial in Human Completed NCT01501916
11 Investigation of the Serum MUC3 Protein Levels in Gestational Hypertensive Disease (Preeclampsia-Eclampsia, Pregnancy Induced Hypertension, and HELLP Syndrome) Compared With Normal Pregnancy Completed NCT04421183
12 A Multicentre Cross-sectional Study of the Prevalence of Hypertensive Disease in Patients Presenting for Elective Surgery in the Western Cape Completed NCT03157661
13 Implications of Maternal 45,X Mosaicism As A Secondary Genomic Finding Following Cell-free DNA Sequencing During Pregnancy: A Deep Phenotype Study Not yet recruiting NCT05548881
14 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...

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

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

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

# Title Authors PMID Year
1
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. 57 5
10884226 2000

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

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C2 NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) SNV Pathogenic
8557 rs41511344 GRCh37: 4:149073701-149073701
GRCh38: 4:148152550-148152550
2 NR3C2 NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) SNV Pathogenic
430357 rs1131691921 GRCh37: 4:149115960-149115960
GRCh38: 4:148194809-148194809
3 NR3C2 NM_000901.5(NR3C2):c.2799+5G>A SNV Uncertain Significance
1030919 rs1732166299 GRCh37: 4:149035250-149035250
GRCh38: 4:148114099-148114099

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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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