EOHSEP
MCID: HYP327
MIFTS: 33

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

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

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

Aliases & Descriptions for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy:

Name: Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 54 24 13
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 54 29
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 56
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 66
Early-Onset Hypertension with Exacerbation in Pregnancy 56
Pseudohyperaldosteronism Type 2 56
Hypertensive Disease 69
Hypertension 42
Eohsep 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 605115
Orphanet 56 ORPHA88660
ICD10 via Orphanet 34 I15.1
MedGen 40 C1854631
MeSH 42 D006973

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

UniProtKB/Swiss-Prot : 66 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 Exacerbation in Pregnancy, also known as hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy, is related to hypertension, essential and pulmonary hypertension, and has symptoms including hypertension, decreased circulating aldosterone level and decreased circulating renin level. An important gene associated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2).

Description from OMIM: 605115

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

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

(show top 50) (show all 1242)
id Related Disease Score Top Affiliating Genes
1 hypertension, essential 12.4
2 pulmonary hypertension 12.4
3 portal hypertension 12.3
4 pulmonary hypertension, familial primary, 1, with or without hht 12.3
5 renovascular hypertension 12.2
6 hypertensive heart disease 12.2
7 hypertensive encephalopathy 12.2
8 hypertension and brachydactyly syndrome 12.2
9 intracranial hypertension, idiopathic 12.1
10 ocular hypertension 12.1
11 hypertensive retinopathy 12.1
12 chronic thromboembolic pulmonary hypertension 12.0
13 pulmonary hypertension, primary, 4 12.0
14 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 12.0
15 heritable pulmonary arterial hypertension 12.0
16 pulmonary hypertension, primary, 3 11.9
17 intracranial hypertension 11.9
18 pulmonary hypertension, primary, 2 11.9
19 malignant hypertension 11.9
20 renal hypertension 11.9
21 pulmonary hypertension, neonatal 11.9
22 hypertension, diastolic 11.8
23 hypertensive nephropathy 11.8
24 malignant essential hypertension 11.8
25 renal failure, progressive, with hypertension 11.8
26 benign essential hypertension 11.8
27 malignant secondary hypertension 11.8
28 neurogenic hypertension 11.8
29 malignant renovascular hypertension 11.8
30 malignant hypertensive renal disease 11.8
31 pre-eclampsia 11.8
32 familial hypertension 11.8
33 renoprival hypertension 11.8
34 pediatric hypertension 11.7
35 pseudohypoaldosteronism, type iie 11.7
36 idiopathic and/or familial pulmonary arterial hypertension 11.7
37 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 11.7
38 benign hypertensive renal disease 11.7
39 arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly 11.7
40 preeclampsia/eclampsia 1 11.7
41 diabetes mellitus, noninsulin-dependent, with acanthosis nigricans and hypertension 11.7
42 kallikrein hypertension 11.7
43 nodular regenerative hyperplasia 11.7
44 benign secondary hypertension 11.6
45 blind hypertensive eye 11.6
46 benign renovascular hypertension 11.6
47 hypertension, essential 8 11.6
48 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency 11.6
49 hypertension, essential 7 11.6
50 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.6

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



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

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

Clinical features from OMIM:

605115

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

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

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


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

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

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypertension

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

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

id Genetic test Affiliating Genes
1 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 29
2 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 24 NR3C2

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

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

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

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

66
id 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 Exacerbation in Pregnancy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 NR3C2 NM_000901.4(NR3C2): c.2429C> T (p.Ser810Leu) single nucleotide variant Pathogenic rs41511344 GRCh37 Chromosome 4, 149073701: 149073701
3 COL4A5 NM_000495.4(COL4A5): c.1871G> A (p.Gly624Asp) single nucleotide variant Pathogenic rs104886142 GRCh37 Chromosome X, 107842023: 107842023
4 PKD2 NM_000297.3(PKD2): c.357_364delCCCGGGCAinsTAGGACG (p.Pro120Argfs) indel Pathogenic rs1057518797 GRCh38 Chromosome 4, 88008090: 88008097
5 MEN1 NM_000244.3(MEN1): c.669+1delG deletion Pathogenic rs1057518903 GRCh38 Chromosome 11, 64807890: 64807890
6 PKD1 NM_000296.3(PKD1): c.8311G> A (p.Glu2771Lys) single nucleotide variant Pathogenic rs1057518897 GRCh37 Chromosome 16, 2153747: 2153747
7 PKD1 NM_000296.3(PKD1): c.3520C> T (p.Gln1174Ter) single nucleotide variant Pathogenic rs1057518899 GRCh37 Chromosome 16, 2161648: 2161648

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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