EOHSEP
MCID: HYP806
MIFTS: 43

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 75
Early-Onset Hypertension with Exacerbation in Pregnancy 59
Pseudohyperaldosteronism Type 2 59
Hypertensive Disease 73
Hypertension 44
Eohsep 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 605115
Orphanet 59 ORPHA88660
UMLS via Orphanet 74 C1854631
ICD10 via Orphanet 34 I15.1
MedGen 42 C1854631
MeSH 44 D006973
UMLS 73 C0020538

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

UniProtKB/Swiss-Prot : 75 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, also known as hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, is related to hypertension, essential and pulmonary hypertension, primary, 1, 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 liver, bone and heart, and related phenotypes are hypertension and decreased circulating aldosterone level

Description from OMIM: 605115

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

Diseases related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1786)
# Related Disease Score Top Affiliating Genes
1 hypertension, essential 12.8
2 pulmonary hypertension, primary, 1 12.7
3 pulmonary hypertension 12.7
4 portal hypertension 12.6
5 renovascular hypertension 12.5
6 hypertensive heart disease 12.5
7 hypertension and brachydactyly syndrome 12.4
8 intracranial hypertension, idiopathic 12.4
9 renal hypertension 12.4
10 hypertensive encephalopathy 12.4
11 malignant hypertension 12.4
12 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 12.4
13 ocular hypertension 12.3
14 portal hypertension, noncirrhotic 12.3
15 hypertensive retinopathy 12.3
16 chronic thromboembolic pulmonary hypertension 12.3
17 renal failure, progressive, with hypertension 12.3
18 pulmonary hypertension, primary, 4 12.2
19 heritable pulmonary arterial hypertension 12.2
20 intracranial hypertension 12.2
21 pulmonary hypertension, primary, 2 12.2
22 pulmonary hypertension, primary, 3 12.2
23 pulmonary hypertension, neonatal 12.2
24 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 12.2
25 hypertension, diastolic 12.2
26 pre-eclampsia 12.2
27 pseudohypoaldosteronism, type iie 12.1
28 hypertensive nephropathy 12.1
29 malignant hypertensive renal disease 12.1
30 malignant essential hypertension 12.1
31 malignant secondary hypertension 12.1
32 benign essential hypertension 12.1
33 familial hypertension 12.1
34 malignant renovascular hypertension 12.1
35 neurogenic hypertension 12.1
36 renoprival hypertension 12.0
37 idiopathic and/or familial pulmonary arterial hypertension 12.0
38 pediatric hypertension 12.0
39 hypertension, essential 3 11.9
40 hypertension, essential 4 11.9
41 hypertension, essential 5 11.9
42 hypertension, essential 6 11.9
43 benign hypertensive renal disease 11.9
44 hyperaldosteronism, familial, type i 11.9
45 pseudohypoaldosteronism, type iia 11.9
46 pseudohypoaldosteronism, type iid 11.9
47 hypertension, essential 1 11.9
48 hypertension, essential 2 11.9
49 hypertension, essential 7 11.9
50 hypertension, essential 8 11.9

Graphical network of the top 20 diseases related to Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy:



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

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

Clinical features from OMIM:

605115

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

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 73 / NDF-RT 51 :


Cochrane evidence based reviews: hypertension

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
Liver, Bone, Heart, Brain, Kidney, Lung, Pituitary

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

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

(show all 32)
# 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
[Genetic predisposition to development of atrial fibrillation in patients with hypertensive disease]. ( 20831043 )
2010
8
Maternal and fetal thrombophilia in intrauterine growth restriction in the presence or absence of maternal hypertensive disease. ( 20601540 )
2010
9
[Myocardial hypertrophy in patients with hypertensive disease: the role of genetic polymorphism of beta-adrenoreactive structures]. ( 20144152 )
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
[Correlation of uric acid, APO-CIII, and apo-E in healthy individuals and patients with coronary heart disease and hypertensive disease]. ( 17385437 )
2007
13
Previous hypertensive disease of pregnancy is associated with alterations of markers of insulin resistance. ( 17389257 )
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
[Angiotensin converting enzyme, NO-synthase, and endothelin-1 genes and left ventricular hypertrophy in natives of Yakutia with hypertensive disease]. ( 15699938 )
2005
16
Morbid obesity, hypertensive disease and the renin-angiotensin-aldosterone axis. ( 15946459 )
2005
17
[The incidence and pattern of cardiac rhythm and conduction disturbances in patients with different clinical and pathogenetic types of hypertensive disease]. ( 15468718 )
2004
18
[Structural and functional reconfiguration of large arteries in hypertensive disease: a role of connective tissue metabolic disturbances]. ( 15468721 )
2004
19
[Association of a polymorphic marker C825T of the beta(3) subunit of G-protein with myocardial hypertrophy in patients with hypertensive disease]. ( 12891286 )
2003
20
[The use of enalaprilat for the treatment of uncomplicated hypertensive crises in patients with hypertensive disease (essential hypertension)]. ( 12494111 )
2002
21
Endothelial factors and microvascular hypertensive disease. ( 11811369 )
2001
22
Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population. ( 11675945 )
2001
23
The management of hypertensive disease in black patients. ( 10396605 )
1999
24
[Nicotine and cardiovascular complications of chronic hypertensive disease]. ( 9695647 )
1998
25
[The effect of cilazapril on left ventricular function and myocardial perfusion in patients with essential hypertension (hypertensive disease) stage II]. ( 7495043 )
1995
26
[The significance of microproteinuria for the diagnosis of kidney involvement in hypertensive disease and secondary forms of arterial hypertension]. ( 1440304 )
1992
27
Relationship of hypertensive disease to abruptio placentae. ( 6700860 )
1984
28
The nucleus tractus solitarius and experimental neurogenic hypertension: evidence for a central neural imbalance hypothesis of hypertensive disease. ( 7010944 )
1981
29
Intractable, severe hypertensive disease; observations on resistance to treatment with current drugs, denervation of the carotid sinuses, hypertensive encephalopathy, and other complications. ( 13361573 )
1956
30
Role of somatotrophic hormone in the production of malignant nephrosclerosis, periarteritis nodosa, and hypertensive disease. ( 14821382 )
1951
31
Ulcer of the leg due to arteriolosclerosis and ischemia occurring in the presence of hypertensive disease (hypertensive-ischemic ulcers); a preliminary report. ( 20289811 )
1947
32
Ulcer of the leg due to arteriolosclerosis and ischemia, occurring in the presence of hypertensive disease (hypertensive-ischemic ulcers). ( 20997482 )
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:

75
# 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...

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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31 HMDB
32 HPO
33 ICD10
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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