EOHSEP
MCID: HYP806
MIFTS: 31

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 58 30 41
Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 58 13 6
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 60
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 76
Early-Onset Hypertension with Exacerbation in Pregnancy 60
Pseudohyperaldosteronism Type 2 60
Hypertensive Disease 74
Eohsep 76

Characteristics:

HPO:

33
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 605115
MeSH 45 D006973
ICD10 via Orphanet 35 I15.1
UMLS via Orphanet 75 C1854631
Orphanet 60 ORPHA88660
MedGen 43 C1854631
UMLS 74 C0020538

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

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include heart, endothelial and brain, and related phenotypes are hypertension and decreased circulating aldosterone level

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 decreased circulating aldosterone level 33 HP:0004319
3 maternal hypertension 33 HP:0008071
4 decreased circulating renin level 33 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...

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 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:

42
Heart, Endothelial, Brain, Placenta, Kidney

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

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

(show all 37)
# Title Authors Year
1
PATHOGENETIC LINKS OF THE COMBINED COURSE OF CHRONIC PANCREATITIS AND HYPERTENSIVE DISEASE AND THEIR ROLE IN THE FORMATION OF COMPLICATIONS. ( 30516499 )
2018
2
Characteristics and severity of preeclampsia in young and elderly gravidas with hypertensive disease. ( 29935482 )
2018
3
[Biochemical markers of endothelial dysfunction in chronic obstructive pulmonary disease concurrent with hypertensive disease or coronary heart disease]. ( 24779065 )
2014
4
Thrombocytopenia in hypertensive disease of pregnancy. ( 24431613 )
2013
5
Preeclampsia and hypertensive disease in pregnancy: their contributions to cardiovascular risk. ( 22389120 )
2012
6
Expression of placental FLT1 transcript variants relates to both gestational hypertensive disease and fetal growth. ( 21518965 )
2011
7
Maternal and fetal thrombophilia in intrauterine growth restriction in the presence or absence of maternal hypertensive disease. ( 20601540 )
2010
8
[Myocardial hypertrophy in patients with hypertensive disease: the role of genetic polymorphism of beta-adrenoreactive structures]. ( 20144152 )
2010
9
[Genetic predisposition to development of atrial fibrillation in patients with hypertensive disease]. ( 20831043 )
2010
10
[N-terminal pro-brain natriuretic peptide and cardiac involvement in patients with hypertensive disease]. ( 20038279 )
2009
11
[Genetic aspects of development of microalbuminuria in patients with hypertensive disease]. ( 19076077 )
2008
12
Previous hypertensive disease of pregnancy is associated with alterations of markers of insulin resistance. ( 17389257 )
2007
13
[Correlation of uric acid, APO-CIII, and apo-E in healthy individuals and patients with coronary heart disease and hypertensive disease]. ( 17385437 )
2007
14
Racial (black-white) contrasts of risk for hypertensive disease in youth have implications for preventive care: the Bogalusa Heart Study. ( 16937775 )
2006
15
Morbid obesity, hypertensive disease and the renin-angiotensin-aldosterone axis. ( 15946459 )
2005
16
[Angiotensin converting enzyme, NO-synthase, and endothelin-1 genes and left ventricular hypertrophy in natives of Yakutia with hypertensive disease]. ( 15699938 )
2005
17
[Structural and functional reconfiguration of large arteries in hypertensive disease: a role of connective tissue metabolic disturbances]. ( 15468721 )
2004
18
[The incidence and pattern of cardiac rhythm and conduction disturbances in patients with different clinical and pathogenetic types of hypertensive disease]. ( 15468718 )
2004
19
Low plasma volume following pregnancy complicated by pre-eclampsia predisposes for hypertensive disease in a next pregnancy. ( 14592585 )
2003
20
[Association of a polymorphic marker C825T of the beta(3) subunit of G-protein with myocardial hypertrophy in patients with hypertensive disease]. ( 12891286 )
2003
21
[The use of enalaprilat for the treatment of uncomplicated hypertensive crises in patients with hypertensive disease (essential hypertension)]. ( 12494111 )
2002
22
Hyperaldosteronism: the internist's hypertensive disease. ( 12385496 )
2002
23
Endothelial factors and microvascular hypertensive disease. ( 11811369 )
2001
24
Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population. ( 11675945 )
2001
25
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. ( 10884226 )
2000
26
The management of hypertensive disease in black patients. ( 10396605 )
1999
27
Does labetalol predispose to pulmonary edema in severe pregnancy-induced hypertensive disease? ( 9642612 )
1998
28
[Nicotine and cardiovascular complications of chronic hypertensive disease]. ( 9695647 )
1998
29
[The effect of cilazapril on left ventricular function and myocardial perfusion in patients with essential hypertension (hypertensive disease) stage II]. ( 7495043 )
1995
30
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]. ( 1440304 )
1992
31
Relationship of hypertensive disease to abruptio placentae. ( 6700860 )
1984
32
The nucleus tractus solitarius and experimental neurogenic hypertension: evidence for a central neural imbalance hypothesis of hypertensive disease. ( 7010944 )
1981
33
Intractable, severe hypertensive disease; observations on resistance to treatment with current drugs, denervation of the carotid sinuses, hypertensive encephalopathy, and other complications. ( 13361573 )
1956
34
Role of somatotrophic hormone in the production of malignant nephrosclerosis, periarteritis nodosa, and hypertensive disease. ( 14821382 )
1951
35
Ulcer of the leg due to arteriolosclerosis and ischemia occurring in the presence of hypertensive disease (hypertensive-ischemic ulcers); a preliminary report. ( 20289811 )
1947
36
Ulcer of the leg due to arteriolosclerosis and ischemia, occurring in the presence of hypertensive disease (hypertensive-ischemic ulcers). ( 20997482 )
1946
37
Ulcer of the leg due to arteriosclerosis and ischemia occurring in the presence of hypertensive disease (hypertensive-ischemic ulcers) a preliminary report. ( 20248520 )
1946

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

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

76
# Symbol AA change Variation ID SNP ID
1 NR3C2 p.Ser810Leu VAR_015626 rs41511344

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....