MCID: HYP327
MIFTS: 43

Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy

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

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

MalaCards integrated aliases 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 29
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 56
Early-Onset Hypertension with Severe Exacerbation in Pregnancy 71
Early-Onset Hypertension with Exacerbation in Pregnancy 56
Pseudohyperaldosteronism Type 2 56
Hypertensive Disease 69
Hypertension 42
Eohsep 71

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
UMLS via Orphanet 70 C1854631
ICD10 via Orphanet 34 I15.1
MedGen 40 C1854631
MeSH 42 D006973

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

UniProtKB/Swiss-Prot : 71 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), and among its related pathways/superpathways are Cargo trafficking to the periciliary membrane and Cell adhesion_Plasmin signaling. Related phenotypes are cardiovascular system and homeostasis/metabolism

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 1277)
id Related Disease Score Top Affiliating Genes
1 hypertension, essential 30.3 COL4A5 F12 MEN1 NR3C2 PKD1 PKD2
2 pulmonary hypertension 12.3
3 portal hypertension 12.3
4 pulmonary hypertension, familial primary, 1, with or without hht 12.2
5 renovascular hypertension 12.2
6 hypertensive heart disease 12.2
7 hypertension and brachydactyly syndrome 12.2
8 hypertensive encephalopathy 12.1
9 intracranial hypertension, idiopathic 12.1
10 portal hypertension, noncirrhotic 12.1
11 ocular hypertension 12.1
12 hypertensive retinopathy 12.0
13 chronic thromboembolic pulmonary hypertension 12.0
14 pulmonary hypertension, primary, 4 12.0
15 heritable pulmonary arterial hypertension 12.0
16 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 12.0
17 pulmonary hypertension, primary, 3 11.9
18 intracranial hypertension 11.9
19 pulmonary hypertension, primary, 2 11.9
20 malignant hypertension 11.9
21 renal hypertension 11.9
22 pulmonary hypertension, neonatal 11.9
23 hypertension, diastolic 11.8
24 hypertensive nephropathy 11.8
25 renal failure, progressive, with hypertension 11.8
26 malignant essential hypertension 11.8
27 benign essential hypertension 11.8
28 malignant secondary hypertension 11.8
29 malignant renovascular hypertension 11.8
30 neurogenic hypertension 11.8
31 pediatric hypertension 11.7
32 malignant hypertensive renal disease 11.7
33 familial hypertension 11.7
34 renoprival hypertension 11.7
35 pre-eclampsia 11.7
36 pseudohypoaldosteronism, type iie 11.7
37 idiopathic and/or familial pulmonary arterial hypertension 11.7
38 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 11.7
39 diabetes mellitus, noninsulin-dependent, with acanthosis nigricans and hypertension 11.7
40 benign hypertensive renal disease 11.7
41 preeclampsia/eclampsia 1 11.7
42 kallikrein hypertension 11.6
43 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.6
44 hypertension, essential 7 11.6
45 hypertension, essential 8 11.6
46 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency 11.6
47 hypertensive hypokalemia familial 11.6
48 portal hypertension due to infrahepatic block 11.6
49 familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 11.6
50 blind hypertensive eye 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

MGI Mouse Phenotypes related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 COL4A5 MEN1 NR3C2 PKD1 PKD2
2 homeostasis/metabolism MP:0005376 9.43 COL4A5 F12 MEN1 NR3C2 PKD1 PKD2
3 renal/urinary system MP:0005367 8.92 COL4A5 NR3C2 PKD1 PKD2

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:

71
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 GRCh37 Chromosome 11, 64575362: 64575362
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...

Pathways related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 PKD1 PKD2
2 10.31 COL4A5 F12

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

Cellular components related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.16 PKD1 PKD2
2 ciliary membrane GO:0060170 8.96 PKD1 PKD2
3 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.56 PKD1 PKD2
2 kidney development GO:0001822 9.55 PKD1 PKD2
3 liver development GO:0001889 9.54 PKD1 PKD2
4 positive regulation of protein binding GO:0032092 9.52 MEN1 PKD1
5 neural tube development GO:0021915 9.51 PKD1 PKD2
6 spinal cord development GO:0021510 9.49 PKD1 PKD2
7 JAK-STAT cascade GO:0007259 9.48 PKD1 PKD2
8 embryonic placenta development GO:0001892 9.46 PKD1 PKD2
9 renal system development GO:0072001 9.43 PKD1 PKD2
10 detection of mechanical stimulus GO:0050982 9.4 PKD1 PKD2
11 cytoplasmic sequestering of transcription factor GO:0042994 9.37 PKD1 PKD2
12 placenta blood vessel development GO:0060674 9.32 PKD1 PKD2
13 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.26 PKD1 PKD2
14 mesonephric tubule development GO:0072164 9.16 PKD1 PKD2
15 mesonephric duct development GO:0072177 8.96 PKD1 PKD2
16 metanephric ascending thin limb development GO:0072218 8.62 PKD1 PKD2

Molecular functions related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.96 PKD1 PKD2
2 calcium channel activity GO:0005262 8.62 PKD1 PKD2

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
38 LifeMap
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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