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...

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

Name: Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 52 24 12
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 52 27
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 54
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 70
Early-Onset Hypertension with Exacerbation in Pregnancy 54
 
Pseudohyperaldosteronism Type 2 54
Hypertensive Disease 68
Hypertension 39
Eohsep 70

Characteristics:

HPO:

64
hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 605115
Orphanet54 ORPHA88660
ICD10 via Orphanet31 I15.1
MedGen37 C1854631
MeSH39 D006973

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

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UniProtKB/Swiss-Prot:70 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 angina pectoris, chest pain and edema. An important gene associated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2). The drugs amlodipine and isradipine have been mentioned in the context of this disorder.

Description from OMIM:52 605115

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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension, essential12.4
2pulmonary hypertension12.4
3portal hypertension12.3
4pulmonary hypertension, familial primary, 1, with or without hht12.3
5renovascular hypertension12.2
6hypertensive heart disease12.2
7hypertensive encephalopathy12.2
8hypertension and brachydactyly syndrome12.2
9intracranial hypertension, idiopathic12.1
10ocular hypertension12.1
11hypertensive retinopathy12.1
12chronic thromboembolic pulmonary hypertension12.0
13pulmonary hypertension, primary, 412.0
14hyperuricemia, pulmonary hypertension, renal failure, and alkalosis12.0
15heritable pulmonary arterial hypertension12.0
16pulmonary hypertension, primary, 311.9
17intracranial hypertension11.9
18pulmonary hypertension, primary, 211.9
19malignant hypertension11.9
20renal hypertension11.9
21pulmonary hypertension, neonatal11.9
22hypertension, diastolic11.8
23hypertensive nephropathy11.8
24malignant essential hypertension11.8
25renal failure, progressive, with hypertension11.8
26benign essential hypertension11.8
27malignant secondary hypertension11.8
28neurogenic hypertension11.8
29malignant renovascular hypertension11.8
30malignant hypertensive renal disease11.8
31pre-eclampsia11.8
32familial hypertension11.8
33renoprival hypertension11.8
34pediatric hypertension11.7
35pseudohypoaldosteronism, type iie11.7
36idiopathic and/or familial pulmonary arterial hypertension11.7
37pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis11.7
38arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly11.7
39benign hypertensive renal disease11.7
40preeclampsia/eclampsia 111.7
41kallikrein hypertension11.7
42diabetes mellitus, noninsulin-dependent, with acanthosis nigricans and hypertension11.7
43nodular regenerative hyperplasia11.7
44hypertension, essential 711.6
45hypertension, essential 811.6
46vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency11.6
47blind hypertensive eye11.6
48benign secondary hypertension11.6
49benign renovascular hypertension11.6
50familial pulmonary arterial hypertension leucopenia and atrial septal defect11.6

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...

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Clinical features from OMIM:

605115

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

 64
id Description HPO Frequency HPO Source Accession
1 hypertension64 HP:0000822
2 decreased circulating renin level64 HP:0003351
3 decreased circulating aldosterone level64 HP:0004319
4 maternal hypertension64 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...

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Interventional clinical trials:

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

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: hypertension

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

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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 Pregnancy27
2 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy24 NR3C2

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

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

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

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

70
id Symbol AA change Variation ID SNP ID
1NR3C2p.Ser810LeuVAR_015626rs41511344

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

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

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

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet