MCID: FML187
MIFTS: 37

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 52
Genetic Hypertension 71

Classifications:



External Ids:

UMLS 71 C0598428

Summaries for Familial Hypertension

MalaCards based summary : Familial Hypertension, also known as genetic hypertension, is related to fibromuscular dysplasia and horseshoe kidney. An important gene associated with Familial Hypertension is WNK4 (WNK Lysine Deficient Protein Kinase 4), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Losartan and Ouabain have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and smooth muscle, 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 92)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 29.6 REN AGTR1 AGT
2 horseshoe kidney 28.7 REN CHGA
3 pseudohypoaldosteronism 28.7 WNK4 WNK1 REN NR3C2 KLHL3 CUL3
4 kidney disease 28.4 REN NR3C2 NPPA AGTR1 AGT
5 hypertension, essential 24.7 WNK4 WNK1 REN PDE3A NR3C2 NPPA
6 pseudohypoaldosteronism, type iie 11.5
7 pseudohypoaldosteronism, type iia 11.1
8 posterior urethral valves 10.4 AGTR1 AGT
9 meningococcal infection 10.4 AGTR1 AGT
10 malignant secondary hypertension 10.4 REN AGTR1
11 plantar fascial fibromatosis 10.4 AGTR1 AGT
12 potter's syndrome 10.3 REN AGT
13 hypertensive encephalopathy 10.3 REN AGTR1
14 malignant renovascular hypertension 10.3 REN AGTR1
15 renal tubular dysgenesis 10.2 REN AGTR1 AGT
16 malignant hypertensive renal disease 10.2 REN AGTR1
17 renal hypertension 10.2 REN AGTR1 AGT
18 renal dysplasia 10.2 REN AGTR1 AGT
19 interstitial nephritis 10.2 REN AGTR1 AGT
20 eclampsia 10.2 REN AGTR1 AGT
21 oligohydramnios 10.2 REN AGTR1 AGT
22 vesicoureteral reflux 1 10.2 REN AGTR1 AGT
23 hypertensive retinopathy 10.2 REN AGTR1
24 familial hyperaldosteronism 10.2 CYP11B2 AGTR1
25 metabolic acidosis 10.2 WNK4 WNK1 KLHL3 CUL3
26 hypertension, diastolic 10.1 REN NPPA
27 twin-to-twin transfusion syndrome 10.0 REN NPPA AGTR1
28 renovascular hypertension 10.0 REN NPPA AGTR1
29 pseudohypoaldosteronism, type i, autosomal dominant 10.0 REN NR3C2
30 gitelman syndrome 10.0 WNK4 WNK1 REN KLHL3 AGT
31 idiopathic hypercalciuria 9.9 REN NPPA
32 hypoaldosteronism 9.9 REN NPPA CYP11B2
33 aortic valve disease 2 9.9 REN NPPA AGT
34 pure autonomic failure 9.9 REN NPPA
35 renal artery disease 9.9 REN NPPA AGTR1 AGT
36 diastolic heart failure 9.9 REN NPPA AGTR1 AGT
37 mitral valve disease 9.9 REN NPPA AGTR1 AGT
38 adrenal adenoma 9.8 REN HSD11B2 CYP11B2
39 end stage renal failure 9.8 REN NPPA AGTR1 AGT
40 idiopathic edema 9.8 NR3C2 NPPA
41 arthrogryposis, distal, type 3 9.8 WNK4 WNK1 REN NR3C2
42 cerebrovascular disease 9.8 REN NPPA AGTR1 AGT
43 renal fibrosis 9.8 REN NR3C2 AGTR1 AGT
44 inappropriate adh syndrome 9.8 REN NPPA
45 stroke, ischemic 9.7 REN NPPA AGTR1 AGT
46 hyperinsulinism 9.7
47 heart valve disease 9.6 REN NR3C2 NPPA
48 hypokalemia 9.6 REN NR3C2 HSD11B2
49 endocrine organ benign neoplasm 9.6 REN CYP11B2 CHGA
50 adrenal carcinoma 9.6 REN CYP11B2 CHGA

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 29)
# 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 10.32 PDE3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.32 AGTR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.32 AGTR1 CHGA NR3C2 PDE3A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.32 AGTR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.32 CHGA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.32 CHGA NR3C2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.32 AGTR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.32 CHGA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.32 NR3C2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.32 NR3C2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.32 AGTR1 NR3C2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.32 NR3C2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.32 CHGA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.32 AGTR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.32 AGTR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.32 CHGA NR3C2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.32 NR3C2
26 no effect GR00402-S-1 10.16 AGT AGTR1 BMPR2 CAND1 CHGA COPS8
27 Increased cell death HMECs cells GR00103-A-0 9.97 CAND1 COPS8 CUL3 KLHL3 NR3C2 RBX1
28 Reduced mammosphere formation GR00396-S 9.5 AGTR1 BMPR2 CHGA GRK4 HSD11B2 NR3C2
29 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 BMPR2 WNK1 WNK4

MGI Mouse Phenotypes related to Familial Hypertension:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 AGT AGTR1 BMPR2 CHGA CUL3 CYP11B2
2 homeostasis/metabolism MP:0005376 10.13 AGT AGTR1 BMPR2 CAND1 CHGA CUL3
3 growth/size/body region MP:0005378 10.1 AGT AGTR1 BMPR2 CHGA COPS8 CUL3
4 mortality/aging MP:0010768 9.97 AGT AGTR1 BMPR2 CAND1 CHGA COPS8
5 muscle MP:0005369 9.65 AGT BMPR2 CHGA CUL3 DRD1 HSD11B2
6 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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Losartan Approved Phase 2 114798-26-4 3961
2
Ouabain Approved Phase 2 630-60-4 439501
3
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
4
Imidazole Experimental, Investigational Phase 2 288-32-4 795
5 Anti-Arrhythmia Agents Phase 2
6 Angiotensin II Type 1 Receptor Blockers Phase 2
7 Angiotensin Receptor Antagonists Phase 2
8 Giapreza Phase 2
9 Angiotensinogen Phase 2
10 Antihypertensive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antihypertensive Effect of Different Doses of ROSTAFUROXIN in Comparison With Losartan, Assessed by Office and Ambulatory Blood Pressure Monitoring in a Hypertensive Population Selected According to a Specific Genetic Profile. Unknown status NCT03217825 Phase 2 Rostafuroxin;Losartan
2 Antihypertensive Effect of Different Doses of Rostafuroxin in Comparison With Losartan, Assessed by Office and Ambulatory Blood Pressure Monitoring in a Hypertensive Population Selected According to a Specific Genetic Profile Unknown status NCT01320397 Phase 2 Rostafuroxin;Rostafuroxin;Rostafuroxin;Losartan
3 Genetic Testing of Monogenic Hypertension in Chinese Population Unknown status NCT03012295

Search NIH Clinical Center for Familial Hypertension

Genetic Tests for Familial Hypertension

Anatomical Context for Familial Hypertension

MalaCards organs/tissues related to Familial Hypertension:

40
Kidney, Heart, Smooth Muscle, Brain, Endothelial, Testes, Adipocyte

Publications for Familial Hypertension

Articles related to Familial Hypertension:

(show top 50) (show all 953)
# Title Authors PMID Year
1
Proteolytic cleavage of human chromogranin a containing naturally occurring catestatin variants: differential processing at catestatin region by plasmin. 54 61
17991725 2008
2
Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. 54 61
16501604 2006
3
Amelioration of genetic hypertension by suppression of renal G protein-coupled receptor kinase type 4 expression. 54 61
16636192 2006
4
Evolution of diagnostic criteria for primary aldosteronism: why is it more common in "drug-resistant" hypertension today? 54 61
15527695 2004
5
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. 54 61
15309683 2004
6
Role of central mineralocorticoid receptors in cardiovascular disease. 54 61
11353578 2001
7
CA-Repeat polymorphism in intron 1 of HSD11B2 : effects on gene expression and salt sensitivity. 54 61
10948076 2000
8
Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3. 54 61
9506770 1998
9
Chromogranin A in human hypertension. Influence of heredity. 54 61
7607727 1995
10
[A new natriuretic factor acting like loop diuretics. Kinetics in normal and hypertensive rats]. 54 61
7755470 1994
11
Relationships among alterations in renal membrane sodium transport, renin and aminopeptidase M activities in genetic hypertension. 54 61
8102253 1993
12
Assignment of the chromogranin A (Chga) locus to homologous regions on mouse chromosome 12 and rat chromosome 6. 54 61
8406464 1993
13
Probiotics Prevent Dysbiosis and the Rise in Blood Pressure in Genetic Hypertension: Role of Short-Chain Fatty Acids. 61
31953983 2020
14
Perinatal taurine exerts a hypotensive effect in male spontaneously hypertensive rats and down-regulates endothelial oxide nitric synthase in the aortic arch. 61
31958174 2020
15
Chromogranin A and its fragments in cardiovascular, immunometabolic, and cancer regulation. 61
31588572 2019
16
Differences in nativity, age and gender may impact health behavior and perspectives among Asian Indians. 61
28669236 2019
17
Newly manufactured Marukome MK-34-1 miso with angiotensin-converting enzyme inhibitory activity and its antihypertensive effects in genetic hypertensive rat models. 61
30631160 2019
18
Health-related determinants of undiagnosed arterial hypertension: a population-based study. 61
30165649 2019
19
Metabolic Changes in Spontaneously Hypertensive Rat Hearts Precede Cardiac Dysfunction and Left Ventricular Hypertrophy. 61
30764689 2019
20
Sodium intake and blood pressure in children with clinical conditions: A systematic review with meta-analysis. 61
30489016 2019
21
[Prostatic blood flow as prominent targets on benign prostatic hyperplasia]. 61
31735753 2019
22
Abnormal sympathetic functioning is linked to familial hypertension in nonathletic young males. 61
31143805 2019
23
Mechanisms Responsible for Genetic Hypertension in Schlager BPH/2 Mice. 61
31681017 2019
24
The Probiotic Lactobacillus fermentum Prevents Dysbiosis and Vascular Oxidative Stress in Rats with Hypertension Induced by Chronic Nitric Oxide Blockade. 61
30028078 2018
25
Blood Pressure Control by a Secreted FGFBP1 (Fibroblast Growth Factor-Binding Protein). 61
29158353 2018
26
Alterations of Cortisol Metabolism in Human Disorders. 61
29843121 2018
27
Sex, Obesity, and Blood Pressure Among African American Adolescents: The Jackson Heart KIDS Pilot Study. 61
28633388 2017
28
Abnormal CD161+ immune cells and retinoic acid receptor-related orphan receptor γt-mediate enhanced IL-17F expression in the setting of genetic hypertension. 61
28093217 2017
29
Consequences of lipopolysaccharide and n-3 polyunsaturated fatty acid administration on aortic function of spontaneously hypertensive rats. 61
28635612 2017
30
Electrophysiological properties and augmented catecholamine release from chromaffin cells of WKY and SHR rats contributing to the hypertension development elicited by chronic EtOH consumption. 61
28322841 2017
31
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. 61
26892095 2017
32
Adverse remodeling of the obtuse marginal artery in compensatory hypertrophied myocardium from spontaneously hypertensive rats. 61
27888779 2017
33
Altered contractile responses of arteries from spontaneously hypertensive rat: The role of endogenous mediators and membrane depolarization. 61
27721001 2016
34
Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity. 61
27582106 2016
35
A PDE3A mutation in familial hypertension and brachydactyly syndrome. 61
27053290 2016
36
Excitation-contraction coupling and excitation-transcription coupling in blood vessels: their possible interactions in hypertensive vascular remodeling. 61
27322009 2016
37
Personalized Therapy of Hypertension: the Past and the Future. 61
26915067 2016
38
Promotion of kidney care in countries with limited resources: How does the National Kidney Foundation of South Africa fare? 61
27469152 2016
39
Antihypertensive effects of oleuropein-enriched olive leaf extract in spontaneously hypertensive rats. 61
26593388 2016
40
Primary Aldosteronism: New Answers, New Questions. 61
26588848 2015
41
NPY1-36 and PYY1-36 activate cardiac fibroblasts: an effect enhanced by genetic hypertension and inhibition of dipeptidyl peptidase 4. 61
26371160 2015
42
Gordon Syndrome: a continuing story. 61
25503323 2015
43
Antihypertensive effects of probiotics Lactobacillus strains in spontaneously hypertensive rats. 61
26255877 2015
44
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia. 61
26286618 2015
45
Effects of Crocetin Esters and Crocetin from Crocus sativus L. on Aortic Contractility in Rat Genetic Hypertension. 61
26402666 2015
46
Fibromuscular dysplasia: what the radiologist should know: a pictorial review. 61
25926266 2015
47
Effects of parental smoking on exercise systolic blood pressure in adolescents. 61
25964207 2015
48
Differential expression and DNA methylation of angiotensin type 1A receptors in vascular tissues during genetic hypertension development. 61
25596947 2015
49
Impaired P2X signalling pathways in renal microvascular myocytes in genetic hypertension. 61
25514930 2015
50
Maternal treatment of spontaneously hypertensive rats with pentaerythritol tetranitrate reduces blood pressure in female offspring. 61
25385760 2015

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
Show member pathways
11.96 PDE3A NPPA AGTR1 AGT
2
Show member pathways
11.26 REN NR3C2 CYP11B2 AGTR1 AGT
3 10.86 REN PDE3A NPPA AGTR1 AGT

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 cytosol GO:0005829 10.03 WNK4 WNK1 UBE2M RBX1 PDE3A NR3C2
2 cytoplasm GO:0005737 10 WNK4 WNK1 REN RBX1 NR3C2 NPPA
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.13 RBX1 KLHL3 CUL3
4 cullin-RING ubiquitin ligase complex GO:0031461 8.8 RBX1 CUL3 CAND1

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.06 WNK4 WNK1 GRK4 COPS8 BMPR2
2 protein ubiquitination GO:0016567 10.04 UBE2M RBX1 KLHL3 CUL3 CAND1
3 response to drug GO:0042493 9.96 REN PDE3A HSD11B2 DRD1
4 negative regulation of cell growth GO:0030308 9.85 NPPA BMPR2 AGT
5 kidney development GO:0001822 9.83 REN AGTR1 AGT
6 female pregnancy GO:0007565 9.81 NPPA HSD11B2 AGT
7 post-translational protein modification GO:0043687 9.73 UBE2M RBX1 KLHL3 CUL3 COPS8 CAND1
8 vasodilation GO:0042311 9.66 DRD1 AGT
9 positive regulation of cellular protein metabolic process GO:0032270 9.65 AGTR1 AGT
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.65 AGTR1 AGT
11 cell growth involved in cardiac muscle cell development GO:0061049 9.64 NPPA AGT
12 protein neddylation GO:0045116 9.63 UBE2M RBX1
13 low-density lipoprotein particle remodeling GO:0034374 9.62 AGTR1 AGT
14 negative regulation of systemic arterial blood pressure GO:0003085 9.62 NPPA BMPR2
15 positive regulation of cardiac muscle contraction GO:0060452 9.61 NPPA CHGA
16 glucocorticoid biosynthetic process GO:0006704 9.61 HSD11B2 CYP11B2
17 positive regulation of cholesterol esterification GO:0010873 9.6 AGTR1 AGT
18 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.59 WNK4 WNK1
19 positive regulation of ion transmembrane transporter activity GO:0032414 9.58 WNK4 WNK1
20 positive regulation of potassium ion import GO:1903288 9.58 WNK4 WNK1
21 positive regulation of NAD(P)H oxidase activity GO:0033864 9.57 AGTR1 AGT
22 negative regulation of sodium ion transport GO:0010766 9.56 WNK4 WNK1
23 SCF complex assembly GO:0010265 9.55 RBX1 CAND1
24 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.54 AGTR1 AGT
25 negative regulation of pancreatic juice secretion GO:0090188 9.52 WNK4 WNK1
26 renal sodium ion absorption GO:0070294 9.51 WNK4 KLHL3
27 regulation of renal sodium excretion GO:0035813 9.49 AGTR1 AGT
28 operant conditioning GO:0035106 9.48 DRD1 AGT
29 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGTR1 AGT
30 regulation of blood pressure GO:0008217 9.46 REN NPPA CHGA AGT
31 regulation of blood volume by renin-angiotensin GO:0002016 9.43 REN AGT
32 distal tubule morphogenesis GO:0072156 9.4 WNK4 KLHL3
33 regulation of cellular process GO:0050794 9.37 WNK4 WNK1
34 regulation of blood volume by renal aldosterone GO:0002017 9.32 HSD11B2 CYP11B2
35 ion homeostasis GO:0050801 9.13 WNK4 WNK1 KLHL3
36 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 REN AGTR1 AGT

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 WNK4 WNK1
2 potassium channel inhibitor activity GO:0019870 8.96 WNK4 WNK1
3 NEDD8 transferase activity GO:0019788 8.62 UBE2M RBX1

Sources for Familial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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