MCID: FML187
MIFTS: 35

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 72

Classifications:



External Ids:

UMLS 72 C0598428

Summaries for Familial Hypertension

MalaCards based summary : Familial Hypertension, also known as genetic hypertension, is related to pseudohypoaldosteronism, type iie and pseudohypoaldosteronism, type iia. An important gene associated with Familial Hypertension is WNK1 (WNK Lysine Deficient Protein Kinase 1), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Renin secretion. The drugs Ouabain and Losartan have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, kidney and brain, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

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 all 44)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iie 32.3 KLHL3 CUL3
2 pseudohypoaldosteronism, type iia 32.1 KLHL3 CUL3
3 microvascular complications of diabetes 3 29.9 AGTR1 AGT
4 fibromuscular dysplasia 29.8 AGTR1 AGT
5 hypertension, essential 29.5 WNK4 WNK1 AGTR1 AGT
6 pseudohypoaldosteronism 29.1 WNK4 WNK1 KLHL3 CUL3
7 renal artery disease 10.5 AGTR1 AGT
8 posterior urethral valves 10.5 AGTR1 AGT
9 meningococcal infection 10.4 AGTR1 AGT
10 aortic coarctation 10.4 AGTR1 AGT
11 anuria 10.4 AGTR1 AGT
12 malignant hypertension 10.4 AGTR1 AGT
13 diastolic heart failure 10.4 AGTR1 AGT
14 arthrogryposis, distal, type 3 10.4 WNK4 WNK1
15 renal tubular dysgenesis 10.4 AGTR1 AGT
16 hypertensive heart disease 10.3 AGTR1 AGT
17 vesicoureteral reflux 1 10.3 AGTR1 AGT
18 pseudohyperkalemia, familial, 2, due to red cell leak 10.2 WNK4 WNK1
19 mitral valve disease 10.2 AGTR1 AGT
20 oligohydramnios 10.1 AGTR1 AGT
21 renal tubular transport disease 10.0 WNK4 WNK1 KLHL3
22 metabolic acidosis 10.0 WNK4 WNK1 KLHL3
23 renal dysplasia 9.9 AGTR1 AGT
24 hyperinsulinism 9.7
25 xeroderma pigmentosum, complementation group e 9.6 RBX1 COPS8
26 atrial standstill 1 9.5
27 hypertension and brachydactyly syndrome 9.5
28 diabetes mellitus, noninsulin-dependent 9.5
29 diabetes mellitus, insulin-dependent 9.5
30 stroke, ischemic 9.5
31 preeclampsia/eclampsia 3 9.5
32 microvascular complications of diabetes 4 9.5
33 microvascular complications of diabetes 6 9.5
34 microvascular complications of diabetes 7 9.5
35 pseudohypoaldosteronism, type iid 9.5
36 brachydactyly 9.5
37 polycystic kidney disease 9.5
38 autonomic neuropathy 9.5
39 lipid metabolism disorder 9.5
40 kidney disease 9.5
41 cerebrovascular disease 9.5
42 autosomal dominant polycystic kidney disease 9.5
43 horseshoe kidney 9.5
44 genetic hypertension 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.23 CAND1 COPS8 CUL3 KLHL3 RBX1 UBE2M

MGI Mouse Phenotypes related to Familial Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 AGT AGTR1 CUL3 KLHL3 UBE2M WNK1
2 renal/urinary system MP:0005367 9.02 AGT AGTR1 KLHL3 WNK1 WNK4

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
Ouabain Approved Phase 2 630-60-4 439501
2
Losartan Approved Phase 2 114798-26-4 3961
3
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
4
Imidazole Experimental, Investigational Phase 2 288-32-4 795
5 Angiotensinogen Phase 2
6 Angiotensin Receptor Antagonists Phase 2
7 Angiotensin II Type 1 Receptor Blockers Phase 2
8 Giapreza Phase 2
9 Anti-Arrhythmia Agents 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:

41
Smooth Muscle, Kidney, Brain, Heart, Endothelial, Testes, Adipocyte

Publications for Familial Hypertension

Articles related to Familial Hypertension:

(show top 50) (show all 947)
# Title Authors PMID Year
1
Differences in nativity, age and gender may impact health behavior and perspectives among Asian Indians. 38
28669236 2019
2
Newly manufactured Marukome MK-34-1 miso with angiotensin-converting enzyme inhibitory activity and its antihypertensive effects in genetic hypertensive rat models. 38
30631160 2019
3
Health-related determinants of undiagnosed arterial hypertension: a population-based study. 38
30165649 2019
4
Metabolic Changes in Spontaneously Hypertensive Rat Hearts Precede Cardiac Dysfunction and Left Ventricular Hypertrophy. 38
30764689 2019
5
Abnormal sympathetic functioning is linked to familial hypertension in nonathletic young males. 38
31143805 2019
6
Sodium intake and blood pressure in children with clinical conditions: A systematic review with meta-analysis. 38
30489016 2019
7
The Probiotic Lactobacillus fermentum Prevents Dysbiosis and Vascular Oxidative Stress in Rats with Hypertension Induced by Chronic Nitric Oxide Blockade. 38
30028078 2018
8
Blood Pressure Control by a Secreted FGFBP1 (Fibroblast Growth Factor-Binding Protein). 38
29158353 2018
9
Alterations of Cortisol Metabolism in Human Disorders. 38
29843121 2018
10
Sex, Obesity, and Blood Pressure Among African American Adolescents: The Jackson Heart KIDS Pilot Study. 38
28633388 2017
11
Abnormal CD161+ immune cells and retinoic acid receptor-related orphan receptor γt-mediate enhanced IL-17F expression in the setting of genetic hypertension. 38
28093217 2017
12
Consequences of lipopolysaccharide and n-3 polyunsaturated fatty acid administration on aortic function of spontaneously hypertensive rats. 38
28635612 2017
13
Electrophysiological properties and augmented catecholamine release from chromaffin cells of WKY and SHR rats contributing to the hypertension development elicited by chronic EtOH consumption. 38
28322841 2017
14
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. 38
26892095 2017
15
Adverse remodeling of the obtuse marginal artery in compensatory hypertrophied myocardium from spontaneously hypertensive rats. 38
27888779 2017
16
Altered contractile responses of arteries from spontaneously hypertensive rat: The role of endogenous mediators and membrane depolarization. 38
27721001 2016
17
Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity. 38
27582106 2016
18
A PDE3A mutation in familial hypertension and brachydactyly syndrome. 38
27053290 2016
19
Excitation-contraction coupling and excitation-transcription coupling in blood vessels: their possible interactions in hypertensive vascular remodeling. 38
27322009 2016
20
Personalized Therapy of Hypertension: the Past and the Future. 38
26915067 2016
21
Promotion of kidney care in countries with limited resources: How does the National Kidney Foundation of South Africa fare? 38
27469152 2016
22
Antihypertensive effects of oleuropein-enriched olive leaf extract in spontaneously hypertensive rats. 38
26593388 2016
23
Primary Aldosteronism: New Answers, New Questions. 38
26588848 2015
24
NPY1-36 and PYY1-36 activate cardiac fibroblasts: an effect enhanced by genetic hypertension and inhibition of dipeptidyl peptidase 4. 38
26371160 2015
25
Gordon Syndrome: a continuing story. 38
25503323 2015
26
Antihypertensive effects of probiotics Lactobacillus strains in spontaneously hypertensive rats. 38
26255877 2015
27
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia. 38
26286618 2015
28
Effects of Crocetin Esters and Crocetin from Crocus sativus L. on Aortic Contractility in Rat Genetic Hypertension. 38
26402666 2015
29
Fibromuscular dysplasia: what the radiologist should know: a pictorial review. 38
25926266 2015
30
Effects of parental smoking on exercise systolic blood pressure in adolescents. 38
25964207 2015
31
Differential expression and DNA methylation of angiotensin type 1A receptors in vascular tissues during genetic hypertension development. 38
25596947 2015
32
Impaired P2X signalling pathways in renal microvascular myocytes in genetic hypertension. 38
25514930 2015
33
Maternal treatment of spontaneously hypertensive rats with pentaerythritol tetranitrate reduces blood pressure in female offspring. 38
25385760 2015
34
Brain BDNF levels elevation induced by physical training is reduced after unilateral common carotid artery occlusion in rats. 38
25052557 2014
35
A new strategy for treating hypertension by blocking the activity of the brain renin-angiotensin system with aminopeptidase A inhibitors. 38
24697296 2014
36
Energy metabolism in BPH/2J genetically hypertensive mice. 38
24305519 2014
37
Elevated blood pressure: Our family's fault? The genetics of essential hypertension. 38
24944762 2014
38
Chloride sensing by WNK1 involves inhibition of autophosphorylation. 38
24803536 2014
39
Involvement of BKCa and KV potassium channels in cAMP-induced vasodilatation: their insufficient function in genetic hypertension. 38
24397812 2014
40
Nifedipine-sensitive blood pressure component in hypertensive models characterized by high activity of either sympathetic nervous system or renin-angiotensin system. 38
24397813 2014
41
Characterization of musclin as a new target for treatment of hypertension. 38
24734231 2014
42
[Orally active aminopeptidase A inhibitors reduce blood pressure: a new strategy for treating hypertension]. 38
25474003 2014
43
Genetics of hypertension: discoveries from the bench to human populations. 38
24133117 2014
44
Identifying multiple causative genes at a single GWAS locus. 38
24006081 2013
45
Down-regulation of CaV1.2 channels during hypertension: how fewer CaV1.2 channels allow more Ca(2+) into hypertensive arterial smooth muscle. 38
24167226 2013
46
Office normotensives with a minimal augmentation of intima-media thickness of common carotid arteries: really normotensives? 38
24338457 2013
47
Differential cardiotoxicity in response to chronic doxorubicin treatment in male spontaneous hypertension-heart failure (SHHF), spontaneously hypertensive (SHR), and Wistar Kyoto (WKY) rats. 38
23993975 2013
48
Ca2+ sensitization and Ca2+ entry in the control of blood pressure and adrenergic vasoconstriction in conscious Wistar-Kyoto and spontaneously hypertensive rats. 38
24107733 2013
49
Role of collecting duct endothelin in control of renal function and blood pressure. 38
23986358 2013
50
The polymorphism of angiotensin-receptor gene A1166C in familial hypertension and its distribution in the Han Yellow race of China. 38
24145933 2013

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 11.27 UBE2M RBX1 CUL3
2 10.64 PDE3A AGTR1 AGT
3 10.62 WNK4 WNK1

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 9.85 WNK4 WNK1 UBE2M RBX1 PDE3A KLHL3
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.13 RBX1 KLHL3 CUL3
3 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 27)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.85 UBE2M RBX1 KLHL3 CUL3 CAND1
2 ubiquitin-dependent protein catabolic process GO:0006511 9.81 RBX1 KLHL3 CUL3
3 protein monoubiquitination GO:0006513 9.63 RBX1 CUL3
4 positive regulation of reactive oxygen species metabolic process GO:2000379 9.62 AGTR1 AGT
5 regulation of vasoconstriction GO:0019229 9.62 AGTR1 AGT
6 nucleotide-excision repair, DNA damage recognition GO:0000715 9.61 RBX1 COPS8
7 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.61 AGTR1 AGT
8 positive regulation of cellular protein metabolic process GO:0032270 9.6 AGTR1 AGT
9 low-density lipoprotein particle remodeling GO:0034374 9.59 AGTR1 AGT
10 protein neddylation GO:0045116 9.58 UBE2M RBX1
11 positive regulation of cholesterol esterification GO:0010873 9.58 AGTR1 AGT
12 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.57 WNK4 WNK1
13 positive regulation of ion transmembrane transporter activity GO:0032414 9.56 WNK4 WNK1
14 positive regulation of potassium ion import GO:1903288 9.55 WNK4 WNK1
15 positive regulation of NAD(P)H oxidase activity GO:0033864 9.54 AGTR1 AGT
16 negative regulation of sodium ion transport GO:0010766 9.52 WNK4 WNK1
17 SCF complex assembly GO:0010265 9.51 RBX1 CAND1
18 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.49 AGTR1 AGT
19 negative regulation of pancreatic juice secretion GO:0090188 9.48 WNK4 WNK1
20 renin-angiotensin regulation of aldosterone production GO:0002018 9.43 AGTR1 AGT
21 renal sodium ion absorption GO:0070294 9.4 WNK4 KLHL3
22 regulation of renal sodium excretion GO:0035813 9.37 AGTR1 AGT
23 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.32 AGTR1 AGT
24 regulation of cellular process GO:0050794 9.26 WNK4 WNK1
25 distal tubule morphogenesis GO:0072156 9.16 WNK4 KLHL3
26 ion homeostasis GO:0050801 9.13 WNK4 WNK1 KLHL3
27 post-translational protein modification GO:0043687 9.1 UBE2M RBX1 KLHL3 CUL3 COPS8 CAND1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.5 UBE2M RBX1 CUL3
2 chloride channel inhibitor activity GO:0019869 9.16 WNK4 WNK1
3 potassium channel inhibitor activity GO:0019870 8.96 WNK4 WNK1
4 NEDD8 transferase activity GO:0019788 8.62 UBE2M RBX1
5 protein binding GO:0005515 10 WNK4 WNK1 UBE2M RBX1 PDE3A KLHL3

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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