MCID: HYP327
MIFTS: 27

Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 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 50 12
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 50 25
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 52
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 68
 
Early-Onset Hypertension with Exacerbation in Pregnancy 52
Pseudohyperaldosteronism Type 2 52
Hypertension 37
Eohsep 68

Characteristics:

HPO:

62
hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 605115
Orphanet52 ORPHA88660
ICD10 via Orphanet29 I15.1
MedGen35 C1854631
MeSH37 D006973

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

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UniProtKB/Swiss-Prot:68 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:50 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 1227)
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
9ocular hypertension12.1
10intracranial hypertension, idiopathic12.1
11hypertensive retinopathy12.1
12heritable pulmonary arterial hypertension12.1
13hypertensive nephropathy12.1
14intracranial hypertension12.1
15malignant hypertension12.0
16renal hypertension12.0
17hyperuricemia, pulmonary hypertension, renal failure, and alkalosis12.0
18pulmonary hypertension, primary, 412.0
19pulmonary hypertension, primary, 312.0
20malignant essential hypertension11.9
21pulmonary hypertension, primary, 211.9
22hypertension, diastolic11.9
23renal failure, progressive, with hypertension11.9
24benign essential hypertension11.9
25malignant secondary hypertension11.9
26pulmonary hypertension, neonatal11.9
27neurogenic hypertension11.9
28malignant renovascular hypertension11.9
29familial hypertension11.9
30renoprival hypertension11.9
31pediatric hypertension11.9
32idiopathic and/or familial pulmonary arterial hypertension11.8
33pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis11.8
34pre-eclampsia11.8
35benign hypertensive renal disease11.8
36kallikrein hypertension11.8
37diabetes mellitus, noninsulin-dependent, with acanthosis nigricans and hypertension11.8
38pseudohypoaldosteronism, type iie11.8
39hypertension, essential 711.7
40hypertension, essential 811.7
41arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly11.7
42vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency11.7
43blind hypertensive eye11.7
44benign secondary hypertension11.7
45benign renovascular hypertension11.7
46familial pulmonary arterial hypertension leucopenia and atrial septal defect11.7
47familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension11.7
48hypertensive hypokalemia familial11.7
49portal hypertension due to infrahepatic block11.7
50preeclampsia/eclampsia 111.6

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

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Clinical features from OMIM:

605115

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

id Description Frequency HPO Source Accession
1 hypertension HP:0000822
2 decreased circulating aldosterone level HP:0002924
3 decreased circulating renin level HP:0003351
4 maternal hypertension HP:0008071

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


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 Pregnancy25

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

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Animal Models for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation... or affiliated genes

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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:

68
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet