MCID: FML187
MIFTS: 42

Familial Hypertension

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Hypertension

MalaCards integrated aliases for Familial Hypertension:

Name: Familial Hypertension 53
Genetic Hypertension 73

Classifications:



External Ids:

UMLS 73 C0598428

Summaries for Familial Hypertension

MalaCards based summary : Familial Hypertension, also known as genetic hypertension, is related to pseudohypoaldosteronism and kidney disease. An important gene associated with Familial Hypertension is WNK4 (WNK Lysine Deficient Protein Kinase 4), and among its related pathways/superpathways are Renin secretion and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Amlodipine and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and testes, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Familial Hypertension

Diseases in the Familial Hypertension family:

Hypertension, Essential Hypertension, Essential 1
Hypertension, Essential 2 Hypertension, Essential 3
Hypertension, Essential 4 Hypertension, Essential 5
Hypertension, Essential 6 Hypertension, Essential 7
Hypertension, Essential 8 Malignant Essential Hypertension
Malignant Hypertension Benign Essential Hypertension
Benign Secondary Hypertension Malignant Secondary Hypertension

Diseases related to Familial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism 28.9 CUL3 KLHL3 NR3C2 REN WNK1 WNK4
2 kidney disease 28.8 AGT AGTR1 NPPA NR3C2 REN
3 myocardial infarction 28.7 AGT AGTR1 NPPA NR3C2 REN
4 pseudohypoaldosteronism, type iia 11.3
5 pseudohypoaldosteronism, type iie 11.0
6 potter's syndrome 10.2 AGT REN
7 metabolic acidosis 10.1 KLHL3 WNK1 WNK4
8 renal artery disease 10.1 AGT AGTR1 REN
9 fibromuscular dysplasia 10.1 AGT AGTR1 REN
10 renal tubular dysgenesis 10.1 AGT AGTR1 REN
11 oligohydramnios 10.1 AGT AGTR1 REN
12 vesicoureteral reflux 1 10.1 AGT AGTR1 REN
13 renal dysplasia 10.1 AGT AGTR1 REN
14 congenital hepatic fibrosis 10.1 AGTR1 REN
15 renal tubular transport disease 10.1 KLHL3 REN WNK1 WNK4
16 diastolic heart failure 10.1 AGT AGTR1 NPPA
17 mitral valve disease 10.1 AGT AGTR1 NPPA
18 postural hypotension 10.0 NPPA REN
19 aortic coarctation 10.0 AGT AGTR1 CYP11B2 GRK4
20 renovascular hypertension 10.0 AGTR1 NPPA REN
21 posterior urethral valves 10.0 AGT AGTR1
22 hypoaldosteronism 10.0 CYP11B2 NPPA REN
23 aortic valve disease 2 10.0 AGT NPPA REN
24 steroid inherited metabolic disorder 10.0 CYP11B2 HSD11B2 REN
25 arteries, anomalies of 10.0 AGT AGTR1 BMPR2 REN
26 malignant hypertension 10.0 AGT AGTR1 NPPA REN
27 arthrogryposis, distal, type 3 9.9 NR3C2 REN WNK1 WNK4
28 renal fibrosis 9.9 AGTR1 NR3C2 REN
29 chronic kidney failure 9.9 AGT AGTR1 NPPA REN
30 hypertensive heart disease 9.9 AGT AGTR1 CYP11B2 NR3C2
31 pseudohypoaldosteronism, type i, autosomal dominant 9.9 NR3C2 REN
32 apparent mineralocorticoid excess 9.9 HSD11B2 NR3C2 REN
33 cortisone reductase deficiency 9.9 HSD11B2 NR3C2 REN
34 heart valve disease 9.9 NPPA NR3C2 REN
35 hypokalemia 9.9 HSD11B2 NR3C2 REN
36 endocrine organ benign neoplasm 9.8 CHGA CYP11B2 REN
37 cell type benign neoplasm 9.8 CHGA CYP11B2 REN
38 pseudohyperkalemia, familial, 2, due to red cell leak 9.8 CYP11B2 NR3C2 REN WNK1 WNK4
39 congestive heart failure 9.8 AGTR1 NPPA NR3C2 REN
40 adrenal cortex disease 9.8 CYP11B2 HSD11B2 NR3C2 REN
41 adrenal gland disease 9.7 CYP11B2 HSD11B2 NR3C2 REN
42 pre-eclampsia 9.7 AGT AGTR1 HSD11B2 NPPA REN
43 anuria 9.7 AGT AGTR1 HSD11B2 NR3C2 REN
44 adrenocortical carcinoma, hereditary 9.7 CHGA CYP11B2 HSD11B2
45 liddle syndrome 1 9.7 CYP11B2 HSD11B2 NR3C2 REN WNK4
46 hyperaldosteronism, familial, type i 9.7 AGT CYP11B2 HSD11B2 NR3C2 REN
47 dilated cardiomyopathy 9.7 AGT AGTR1 CYP11B2 NPPA REN
48 hypertension and brachydactyly syndrome 9.5
49 brachydactyly 9.5
50 polycystic kidney disease 9.5

Graphical network of the top 20 diseases related to Familial Hypertension:



Diseases related to Familial Hypertension

Symptoms & Phenotypes for Familial Hypertension

GenomeRNAi Phenotypes related to Familial Hypertension according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.61 BMPR2
2 Decreased viability GR00221-A-1 10.61 BMPR2 GRK4 WNK4
3 Decreased viability GR00221-A-2 10.61 GRK4 WNK4
4 Decreased viability GR00221-A-3 10.61 BMPR2 WNK1
5 Decreased viability GR00221-A-4 10.61 BMPR2 GRK4 WNK1 WNK4
6 Decreased viability GR00301-A 10.61 BMPR2 GRK4
7 Decreased viability GR00381-A-1 10.61 HSD11B2
8 Decreased viability GR00402-S-2 10.61 AGT AGTR1 BMPR2 CAND1 CHGA COPS8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.34 PDE3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.34 AGTR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.34 AGTR1 CHGA NR3C2 PDE3A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.34 AGTR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.34 CHGA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.34 CHGA NR3C2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.34 AGTR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.34 CHGA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.34 NR3C2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.34 NR3C2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.34 AGTR1 NR3C2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.34 NR3C2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.34 CHGA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.34 AGTR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.34 AGTR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.34 CHGA NR3C2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.34 AGTR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.34 NR3C2
27 no effect GR00402-S-1 10.16 AGT AGTR1 BMPR2 CAND1 CHGA COPS8
28 Increased cell death HMECs cells GR00103-A-0 9.97 CAND1 COPS8 CUL3 KLHL3 NR3C2 RBX1
29 Reduced mammosphere formation GR00396-S 9.5 AGTR1 BMPR2 CHGA GRK4 HSD11B2 NR3C2
30 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 BMPR2 WNK1 WNK4

MGI Mouse Phenotypes related to Familial Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 AGT AGTR1 BMPR2 CHGA CUL3 CYP11B2
2 growth/size/body region MP:0005378 10.15 AGT AGTR1 BMPR2 CHGA COPS8 CUL3
3 homeostasis/metabolism MP:0005376 10.1 AGT AGTR1 BMPR2 CHGA CUL3 CYP11B2
4 hematopoietic system MP:0005397 10.02 AGTR1 BMPR2 COPS8 CYP11B2 DRD1 KLHL3
5 mortality/aging MP:0010768 9.93 AGT AGTR1 BMPR2 CHGA COPS8 CUL3
6 muscle MP:0005369 9.65 AGT BMPR2 CHGA CUL3 DRD1 HSD11B2
7 renal/urinary system MP:0005367 9.4 AGT AGTR1 BMPR2 CHGA CYP11B2 HSD11B2

Drugs & Therapeutics for Familial Hypertension

Drugs for Familial Hypertension (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Not Applicable 88150-42-9 2162
2
Eplerenone Approved Not Applicable 107724-20-9 443872 150310
3 Vasodilator Agents Not Applicable
4 Hormones Not Applicable
5 Mineralocorticoid Receptor Antagonists Not Applicable
6 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
7 Mineralocorticoids Not Applicable
8 Hormone Antagonists Not Applicable
9 Calcium, Dietary Not Applicable
10 Antihypertensive Agents Not Applicable
11 Diuretics, Potassium Sparing Not Applicable
12 calcium channel blockers Not Applicable
13 diuretics Not Applicable
14 Natriuretic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Testing of Monogenic Hypertension in Chinese Population Unknown status NCT03012295
2 MR Antagonist and STRIATIN Not yet recruiting NCT03683069 Not Applicable Eplerenone vs Amlodipine

Search NIH Clinical Center for Familial Hypertension

Genetic Tests for Familial Hypertension

Anatomical Context for Familial Hypertension

MalaCards organs/tissues related to Familial Hypertension:

41
Kidney, Smooth Muscle, Testes, Cortex, Heart, Adrenal Gland, Adrenal Cortex

Publications for Familial Hypertension

Articles related to Familial Hypertension:

(show top 50) (show all 201)
# Title Authors Year
1
Abnormal CD161+ immune cells and retinoic acid receptor-related orphan receptor γt-mediate enhanced IL-17F expression in the setting of genetic hypertension. ( 28093217 )
2017
2
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
3
Impaired P2X signalling pathways in renal microvascular myocytes in genetic hypertension. ( 25514930 )
2015
4
Differential expression and DNA methylation of angiotensin type 1A receptors in vascular tissues during genetic hypertension development. ( 25596947 )
2015
5
NPY1-36 and PYY1-36 activate cardiac fibroblasts: an effect enhanced by genetic hypertension and inhibition of dipeptidyl peptidase 4. ( 26371160 )
2015
6
Effects of Crocetin Esters and Crocetin from Crocus sativus L. on Aortic Contractility in Rat Genetic Hypertension. ( 26402666 )
2015
7
The polymorphism of angiotensin-receptor gene A1166C in familial hypertension and its distribution in the Han Yellow race of China. ( 24145933 )
2013
8
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
9
An elevation in physical coupling of type 1 inositol 1,4,5-trisphosphate (IP3) receptors to transient receptor potential 3 (TRPC3) channels constricts mesenteric arteries in genetic hypertension. ( 23045459 )
2012
10
The metabolic syndrome and risk of myocardial infarction in familial hypertension (hypertension heredity in MalmAP evaluation study). ( 19050451 )
2009
11
TNF-alpha regulates vascular smooth muscle cell responses in genetic hypertension. ( 19306950 )
2009
12
Unveiling gender differences in demand ischemia: a study in a rat model of genetic hypertension. ( 17175162 )
2007
13
The effects of exercise on haemodynamic function in relation to the familial hypertension risk model. ( 16496017 )
2006
14
Nonproteolytic activation of prorenin contributes to development of cardiac fibrosis in genetic hypertension. ( 16585419 )
2006
15
Enhanced Ca2+ response to AVP in preglomerular vessels from rats with genetic hypertension during different hydration states. ( 15657301 )
2005
16
Altered expression of renal apical plasma membrane Na+ transporters in the early phase of genetic hypertension. ( 15687246 )
2005
17
Human-antigen R (HuR) expression in hypertension: downregulation of the mRNA stabilizing protein HuR in genetic hypertension. ( 15883232 )
2005
18
The kidney as a determinant of genetic hypertension: evidence from renal transplantation studies. ( 16103270 )
2005
19
SAM68: a downstream target of angiotensin II signaling in vascular smooth muscle cells in genetic hypertension. ( 14693677 )
2004
20
A new hypotensive polyunsaturated fatty acid dietary combination regulates oleic acid accumulation by suppression of stearoyl CoA desaturase 1 gene expression in the SHR model of genetic hypertension. ( 14977874 )
2004
21
Neuroendocrine transcriptome in genetic hypertension: multiple changes in diverse adrenal physiological systems. ( 15166183 )
2004
22
Spironolactone responsive familial hypertension. A potentially high prevalence of mineralocorticoid disease in Oman. ( 12682699 )
2003
23
Influence of familial hypertension on blood pressure, serum cholesterol, high density lipoprotein cholesterol during second and third decade of life in Punjabi population. ( 15255633 )
2003
24
Chlamydia pneumoniae accelerates coronary artery disease progression in transgenic hyperlipidemia-genetic hypertension rat model. ( 14571321 )
2003
25
ETA receptor-mediated Ca2+ signaling in thin descending limbs of Henle's loop: impairment in genetic hypertension. ( 12631344 )
2003
26
Nephroprotective effects of the endothelin ET(A) receptor antagonist darusentan in salt-sensitive genetic hypertension. ( 12754059 )
2003
27
Different cell cycle regulation of vascular smooth muscle in genetic hypertension. ( 12847112 )
2003
28
Downregulation of the BK channel beta1 subunit in genetic hypertension. ( 14551242 )
2003
29
The BK channel: protective or detrimental in genetic hypertension? ( 14615492 )
2003
30
High urinary excretion of uric acid combined with high excretion of calcium links kidney stone disease to familial hypertension. ( 11812875 )
2002
31
Telomerase activation causes vascular smooth muscle cell proliferation in genetic hypertension. ( 11772940 )
2002
32
Altered balance of main vasopressor and vasodepressor systems in rats with genetic hypertension and hypertriglyceridaemia. ( 11869167 )
2002
33
Effect of familial hypertension on glomerular hemodynamics and tubulo-glomerular feedback after uninephrectomy. ( 11243302 )
2001
34
Impaired function of endothelial pressure-activated cation channel in salt-sensitive genetic hypertension. ( 11461934 )
2001
35
The action of salt and captopril on blood pressure in mice with genetic hypertension. ( 11564981 )
2001
36
Enhanced interaction between renovascular alpha(2)-adrenoceptors and angiotensin II receptors in genetic hypertension. ( 11566904 )
2001
37
Coexisting independent sodium-sensitive and sodium-insensitive mechanisms of genetic hypertension in spontaneously hypertensive rats (SHR). ( 11599778 )
2001
38
Renal transplantation studies in genetic hypertension. ( 11719601 )
2001
39
The presence of genetic hypertension stimulates early renal accumulation of fibronectin in experimental diabetes mellitus. ( 11719841 )
2001
40
Blood pressure variability is increased in genetic hypertension and L-NAME -induced hypertension. ( 11741518 )
2001
41
Increased apoptosis in the heart of genetic hypertension, associated with increased fibroblasts. ( 10728395 )
2000
42
Upregulation of V(1) receptors in renal resistance vessels of rats developing genetic hypertension. ( 10836981 )
2000
43
DNA synthesis and apoptosis in smooth muscle cells from a model of genetic hypertension. ( 10904021 )
2000
44
Abnormalities in insulin sensitivity, vascular resistance and erythrocyte cation transport are independent genetic traits in familial hypertension. ( 10451037 )
1999
45
Collagen I and III and mechanical properties of conduit arteries in rats with genetic hypertension. ( 10213910 )
1999
46
Superoxide anion production is increased in a model of genetic hypertension: role of the endothelium. ( 10373215 )
1999
47
Low dose indapamide plus perindopril combination effects on cardiovascular structure and function in genetic hypertension. ( 10474777 )
1999
48
Activation of the Na(+)-H+ exchanger modulates angiotensin II-stimulated Na(+)-dependent Mg2+ transport in vascular smooth muscle cells in genetic hypertension. ( 10489391 )
1999
49
Angiotensin II-induced renal vasoconstriction in genetic hypertension. ( 10490921 )
1999
50
Catecholamine storage vesicle protein expression in genetic hypertension. ( 10803489 )
1999

Variations for Familial Hypertension

Expression for Familial Hypertension

Search GEO for disease gene expression data for Familial Hypertension.

Pathways for Familial Hypertension

Pathways related to Familial Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.07 AGT AGTR1 PDE3A REN
2
Show member pathways
10.92 AGT AGTR1 CYP11B2 NR3C2 REN
3 10.5 BMPR2 NPPA

GO Terms for Familial Hypertension

Cellular components related to Familial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mast cell granule GO:0042629 9.32 CHGA NPPA
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.13 CUL3 KLHL3 RBX1
3 cullin-RING ubiquitin ligase complex GO:0031461 8.8 CAND1 CUL3 RBX1
4 cytosol GO:0005829 10.03 AGT CAND1 COPS8 CUL3 GRK4 KLHL3
5 cytoplasm GO:0005737 10 AGT BMPR2 CAND1 COPS8 CUL3 GRK4

Biological processes related to Familial Hypertension according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 DRD1 HSD11B2 PDE3A REN
2 negative regulation of cell growth GO:0030308 9.85 AGT BMPR2 NPPA
3 kidney development GO:0001822 9.84 AGT AGTR1 REN
4 female pregnancy GO:0007565 9.81 AGT HSD11B2 NPPA
5 post-translational protein modification GO:0043687 9.73 CAND1 COPS8 CUL3 KLHL3 RBX1 UBE2M
6 cGMP-mediated signaling GO:0019934 9.68 NPPA PDE3A
7 vasodilation GO:0042311 9.67 AGT DRD1
8 regulation of blood vessel size GO:0050880 9.65 AGT NPPA
9 positive regulation of cellular protein metabolic process GO:0032270 9.65 AGT AGTR1
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.65 AGT AGTR1
11 cell growth involved in cardiac muscle cell development GO:0061049 9.64 AGT NPPA
12 low-density lipoprotein particle remodeling GO:0034374 9.63 AGT AGTR1
13 protein neddylation GO:0045116 9.62 RBX1 UBE2M
14 negative regulation of systemic arterial blood pressure GO:0003085 9.62 BMPR2 NPPA
15 positive regulation of cardiac muscle contraction GO:0060452 9.61 CHGA NPPA
16 glucocorticoid biosynthetic process GO:0006704 9.61 CYP11B2 HSD11B2
17 positive regulation of cholesterol esterification GO:0010873 9.6 AGT AGTR1
18 positive regulation of ion transmembrane transporter activity GO:0032414 9.59 WNK1 WNK4
19 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.58 WNK1 WNK4
20 negative regulation of sodium ion transport GO:0010766 9.58 WNK1 WNK4
21 positive regulation of NAD(P)H oxidase activity GO:0033864 9.57 AGT AGTR1
22 positive regulation of potassium ion import GO:1903288 9.56 WNK1 WNK4
23 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.55 AGT AGTR1
24 SCF complex assembly GO:0010265 9.54 CAND1 RBX1
25 negative regulation of pancreatic juice secretion GO:0090188 9.52 WNK1 WNK4
26 regulation of renal sodium excretion GO:0035813 9.51 AGT AGTR1
27 renal sodium ion absorption GO:0070294 9.49 KLHL3 WNK4
28 operant conditioning GO:0035106 9.48 AGT DRD1
29 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGT AGTR1
30 regulation of blood pressure GO:0008217 9.46 AGT CHGA NPPA REN
31 regulation of blood volume by renin-angiotensin GO:0002016 9.43 AGT REN
32 distal tubule morphogenesis GO:0072156 9.4 KLHL3 WNK4
33 regulation of blood volume by renal aldosterone GO:0002017 9.37 CYP11B2 HSD11B2
34 regulation of cellular process GO:0050794 9.32 WNK1 WNK4
35 ion homeostasis GO:0050801 9.13 KLHL3 WNK1 WNK4
36 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN
37 protein phosphorylation GO:0006468 10.07 BMPR2 COPS8 GRK4 WNK1 WNK4
38 protein ubiquitination GO:0016567 10.03 CAND1 CUL3 KLHL3 RBX1 UBE2M

Molecular functions related to Familial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 9.16 WNK1 WNK4
2 potassium channel inhibitor activity GO:0019870 8.96 WNK1 WNK4
3 NEDD8 transferase activity GO:0019788 8.62 RBX1 UBE2M
4 protein binding GO:0005515 10.16 AGT AGTR1 BMPR2 CAND1 COPS8 CUL3

Sources for Familial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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