Aliases & Classifications for Hypertension, Diastolic

MalaCards integrated aliases for Hypertension, Diastolic:

Name: Hypertension, Diastolic 57
Hypertension, Diastolic, Resistance to 57 29 13 6 39
Diastolic Hypertension 54 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
hypertension, diastolic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 608622
MedGen 41 C1837739
SNOMED-CT via HPO 68 263681008
UMLS 71 C0235222

Summaries for Hypertension, Diastolic

OMIM® : 57 Hypertension is a significant risk factor for cardiac and renal disease, arteriosclerosis, retinopathy, and stroke. Systolic hypertension reflects an increase in the force of cardiac contraction, whereas diastolic hypertension reflects an increase in peripheral vascular resistance. Normalization of blood pressure is associated with reductions in morbidity and mortality related to end-organ damage. (608622) (Updated 05-Mar-2021)

MalaCards based summary : Hypertension, Diastolic, also known as hypertension, diastolic, resistance to, is related to proteinuria, chronic benign and renovascular hypertension. An important gene associated with Hypertension, Diastolic is KCNMB1 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 1), and among its related pathways/superpathways are ACE Inhibitor Pathway, Pharmacodynamics and Renin secretion. The drugs Nebivolol and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and endothelial, and related phenotypes are elevated diastolic blood pressure and renal/urinary system

Related Diseases for Hypertension, Diastolic

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 proteinuria, chronic benign 29.7 REN ACE
2 renovascular hypertension 29.7 REN ACE
3 carotid stenosis 29.7 REN ACE
4 cardiac arrest 29.4 REN ACE
5 hypertension, essential 28.7 REN KCNMB1 KCNMA1 ACE
6 congestive heart failure 10.1
7 hepatic tuberculosis 10.1 GGT1 ACE
8 hypoaldosteronism 10.0 REN ACE
9 renal artery obstruction 10.0 REN ACE
10 orthostatic proteinuria 10.0 REN ACE
11 cholesterol embolism 10.0 REN ACE
12 hypertensive encephalopathy 10.0 REN ACE
13 kidney papillary necrosis 10.0 REN ACE
14 generalized atherosclerosis 10.0 REN ACE
15 potter's syndrome 10.0 REN ACE
16 severe nonproliferative diabetic retinopathy 10.0 REN ACE
17 perinephritis 10.0 REN ACE
18 pulmonary valve insufficiency 10.0 REN ACE
19 hypertensive retinopathy 10.0 REN ACE
20 kidney hypertrophy 10.0 REN ACE
21 constrictive pericarditis 10.0 REN ACE
22 fibromuscular dysplasia 10.0 REN ACE
23 renal artery disease 10.0 REN ACE
24 pure autonomic failure 10.0 REN ACE
25 inappropriate adh syndrome 10.0 REN ACE
26 left bundle branch hemiblock 10.0 REN ACE
27 cardiac tamponade 10.0 REN ACE
28 chronic pyelonephritis 10.0 REN ACE
29 coronary artery vasospasm 10.0 REN ACE
30 central sleep apnea 10.0 REN ACE
31 sleep apnea 10.0 REN ACE
32 anuria 10.0 REN ACE
33 alcoholic cardiomyopathy 10.0 REN ACE
34 diabetic autonomic neuropathy 10.0 REN ACE
35 tricuspid valve disease 10.0 REN ACE
36 tricuspid valve insufficiency 10.0 REN ACE
37 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 REN ACE
38 aortic valve insufficiency 10.0 REN ACE
39 pyelitis 10.0 REN ACE
40 mitral valve stenosis 10.0 REN ACE
41 acute kidney tubular necrosis 10.0 REN ACE
42 microvascular complications of diabetes 3 10.0 REN ACE
43 mitral valve insufficiency 10.0 REN ACE
44 vascular disease 10.0
45 pericardium disease 10.0 REN ACE
46 hepatorenal syndrome 10.0 REN ACE
47 autonomic nervous system disease 10.0 REN ACE
48 renal tubular dysgenesis 10.0 REN ACE
49 malignant hypertension 10.0 REN ACE
50 diastolic heart failure 10.0 REN ACE

Graphical network of the top 20 diseases related to Hypertension, Diastolic:



Diseases related to Hypertension, Diastolic

Symptoms & Phenotypes for Hypertension, Diastolic

Human phenotypes related to Hypertension, Diastolic:

31
# Description HPO Frequency HPO Source Accession
1 elevated diastolic blood pressure 31 HP:0005117

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
resistance to moderate and severe diastolic hypertension

Clinical features from OMIM®:

608622 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Hypertension, Diastolic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 ACE GGT1 KCNMA1 KCNMB1 REN

Drugs & Therapeutics for Hypertension, Diastolic

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
2
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
3 Protective Agents Phase 4
4 Cardiotonic Agents Phase 4
5 Adrenergic beta-Agonists Phase 4
6 Neurotransmitter Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Angiotensin-Converting Enzyme Inhibitors Phase 4
9 HIV Protease Inhibitors Phase 4
10 Adrenergic Agents Phase 4
11
protease inhibitors Phase 4
12 Adrenergic Agonists Phase 4
13 Vasodilator Agents Phase 4
14
Telmisartan Approved, Investigational 144701-48-4 65999
15
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
16
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
17 Giapreza
18 Angiotensin II Type 1 Receptor Blockers
19 Angiotensinogen
20 Sodium Chloride Symporter Inhibitors
21 diuretics
22 Angiotensin Receptor Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Parallel-Group Study to Evaluate the Effects of First-Line Treatment With a Free Combination of Nebivolol and Lisinopril Compared With Placebo and the Monotherapy Components on Blood Pressure in Patients With Stage 2 Diastolic Hypertension Completed NCT01218100 Phase 4 nebivolol and lisinopril (free combination);nebivolol monotherapy;lisinopril monotherapy;placebo
2 Observational Study in Everyday Medical Practice of the Effectiveness of Telmisartan for Treatment of Isolated Systolic Hypertension in Comparison With Systolic/Diastolic Hypertension in Patients Aged 55 or Older Completed NCT02242877 Telmisartan;Telmisartan combined with hydrochlorothiazide

Search NIH Clinical Center for Hypertension, Diastolic

Genetic Tests for Hypertension, Diastolic

Genetic tests related to Hypertension, Diastolic:

# Genetic test Affiliating Genes
1 Hypertension, Diastolic, Resistance to 29 KCNMB1

Anatomical Context for Hypertension, Diastolic

MalaCards organs/tissues related to Hypertension, Diastolic:

40
Heart, Kidney, Endothelial

Publications for Hypertension, Diastolic

Articles related to Hypertension, Diastolic:

(show top 50) (show all 446)
# Title Authors PMID Year
1
Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension. 57 6
15057310 2004
2
E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients. 6
16155733 2005
3
A longitudinal study on the relationship between shift work and the progression of hypertension in male Japanese workers. 54 61
16269958 2005
4
Effects of perindopril on elastic and structural properties of large arteries in essential hypertension. 54 61
15229761 2004
5
[The TEAM study--a study of the effectiveness and tolerance of treatment of essential hypertension with a fixed combination of trandolapril and verapamil]. 61 54
9820054 1998
6
Treatment of senile hypertension: the Fosinopril in Old Patients Study (FOPS). 61 54
9366282 1997
7
I/D polymorphism of the angiotensin-converting enzyme gene does not predict isolated systolic or systolic-diastolic hypertension in the elderly. 54 61
8733034 1996
8
Angiotensin converting enzyme inhibitors as initial monotherapy in severe hypertension. Quinapril and captopril. 61 54
1747216 1991
9
Hemodynamic and renin responses to nifedipine in renovascular hypertension. 54 61
2405611 1990
10
Time-evolving coupling functions for evaluating the interaction between cerebral oxyhemoglobin and arterial blood pressure with hypertension. 61
33253413 2020
11
A robust diving response in the laboratory mouse. 61
31552491 2019
12
Hypertension, diastolic stress test, and HFpEF: Does new scoring system change something? 61
31769582 2019
13
Microvascular decompression in patients with hemifacial spasm. 61
31617334 2019
14
Prevalence of diabetes and cardio-metabolic risk factors in young men in the United Arab Emirates: A cross-sectional national survey. 61
31592445 2019
15
Hypertension and its risk factors among male adolescents in intermediate and secondary schools in Sakaka City, Aljouf Region of Saudi Arabia. 61
31417059 2019
16
Ranolazine: Multifaceted Role beyond Coronary Artery Disease, a Recent Perspective. 61
31007857 2018
17
ASSOCIATION BETWEEN COMPONENTS OF METABOLIC SYNDROME AND COGNITIVE DYSFUNCTION: CROSS-SECTIONAL STUDY AMONG THE POPULATION OF THE TURKESTAN REGION. 61
29905556 2018
18
Factors associated with residual urine volume preservation in patients undergoing hemodialysis for end-stage kidney disease in Kinshasa. 61
29554877 2018
19
Sex Differences in Heart Failure. 61
30051405 2018
20
Anthropometric and cardiometabolic risk factors in parents and child obesity in Segamat, Malaysia. 61
29106558 2017
21
Mid-term results of bilateral lung transplant with postoperatively extended intraoperative extracorporeal membrane oxygenation for severe pulmonary hypertension. 61
28329232 2017
22
Chronic obstructive pulmonary disease and atrial fibrillation: An unknown relationship. 61
28188041 2017
23
Role of Ranolazine in cardiovascular disease and diabetes: Exploring beyond angina. 61
27838121 2017
24
Effects of pentoxifylline on hemodynamic, hemorheological, and microcirculatory parameters in young SHRs during arterial hypertension development. 61
28722518 2017
25
Global longitudinal strain predicts incident atrial fibrillation and stroke occurrence after acute myocardial infarction. 61
27858918 2016
26
The Inter-rater Reliability of Echocardiographic Diastolic Function Evaluation Among Emergency Physician Sonographers. 61
27614538 2016
27
Sickle cell anemia mice develop a unique cardiomyopathy with restrictive physiology. 61
27503873 2016
28
A Randomized, Double-blind, Candesartan-controlled, Parallel Group Comparison Clinical Trial to Evaluate the Antihypertensive Efficacy and Safety of Fimasartan in Patients with Mild to Moderate Essential Hypertension. 61
27161546 2016
29
The efficacy of resveratrol in controlling hypertension: study protocol for a randomized, crossover, double-blinded, placebo-controlled trial. 61
27339453 2016
30
Correlates of Blood Pressure According to Early, On Time, and Late Maturation in Adolescents. 61
26408345 2016
31
[Hypertension Control at the Primary Health Care: A Comparison Among Portuguese Natives and Portuguese Speaking African Coutries Immigrants]. 61
27285095 2016
32
Valacyclovir and Acyclovir Neurotoxicity With Status Epilepticus. 61
24368610 2016
33
Diminazene Aceturate Improves Cardiac Fibrosis and Diastolic Dysfunction in Rats with Kidney Disease. 61
27571511 2016
34
Pathophysiological effects of different risk factors for heart failure. 61
27042319 2016
35
Genotype Correlations With Blood Pressure and Efficacy From a Randomized Phase III Trial of Second-Line Axitinib Versus Sorafenib in Metastatic Renal Cell Carcinoma. 61
25816720 2015
36
Antibodies against native and oxidized cardiolipin and phosphatidylserine and phosphorylcholine in atherosclerosis development. 61
25473948 2014
37
Cardiac mechanics and ventricular twist by three-dimensional strain analysis in relation to B-type natriuretic peptide as a clinical prognosticator for heart failure patients. 61
25545637 2014
38
Perceived racial discrimination and hypertension: a comprehensive systematic review. 61
24417692 2014
39
Transarterial treatment of congenital renal arteriovenous fistulas. 61
23810295 2013
40
Effects of add-on nebivolol on blood pressure and glucose parameters in hypertensive patients with prediabetes. 61
23551727 2013
41
Probable carvedilol-induced thrombocytopenia. 61
23515512 2013
42
Blood pressure load in adults with treated hypertension. 61
23633274 2013
43
Progression of myocardial remodeling and mechanical dysfunction in the spontaneously hypertensive rat. 61
23001837 2012
44
Analysis of various etiologies of hypertension in patients hospitalized in the endocrinology division. 61
22212439 2012
45
Prediction of individuals prone to suffer from early onset of hypertension. 61
23671955 2012
46
Aldosterone and the heart: from basic research to clinical evidence. 61
22095099 2012
47
Clinical and echocardiographic correlates of intra-atrial conduction delay. 61
21846646 2011
48
Switching patients with uncontrolled hypertension on amlodipine 10 mg to single-pill combinations of telmisartan and amlodipine: results of the TEAMSTA-10 study. 61
21955225 2011
49
Telmisartan and amlodipine single-pill combinations vs amlodipine monotherapy for superior blood pressure lowering and improved tolerability in patients with uncontrolled hypertension: results of the TEAMSTA-5 study. 61
21762357 2011
50
Increased serum S-100B and neuron specific enolase - Potential markers of early nervous system involvement in essential hypertension. 61
21130083 2011

Variations for Hypertension, Diastolic

ClinVar genetic disease variations for Hypertension, Diastolic:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNMB1 NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys) SNV protective 5941 rs11739136 5:169810796-169810796 5:170383792-170383792

Expression for Hypertension, Diastolic

Search GEO for disease gene expression data for Hypertension, Diastolic.

Pathways for Hypertension, Diastolic

Pathways related to Hypertension, Diastolic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.06 REN ACE
2 10.64 REN KCNMA1 ACE
3
Show member pathways
10.58 KCNMB1 KCNMA1

GO Terms for Hypertension, Diastolic

Cellular components related to Hypertension, Diastolic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.43 REN KCNMB1 KCNMA1 KCNIP1 GGT1 ACE
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNMB1 KCNMA1 KCNIP1

Biological processes related to Hypertension, Diastolic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.37 REN ACE
2 potassium ion transport GO:0006813 9.33 KCNMB1 KCNMA1 KCNIP1
3 response to calcium ion GO:0051592 9.32 KCNMB1 KCNMA1
4 amyloid-beta metabolic process GO:0050435 9.26 REN ACE
5 potassium ion transmembrane transport GO:0071805 9.13 KCNMB1 KCNMA1 KCNIP1
6 angiotensin maturation GO:0002003 8.62 REN ACE

Molecular functions related to Hypertension, Diastolic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.43 REN GGT1 ACE
2 endopeptidase activity GO:0004175 9.32 REN ACE
3 potassium channel activity GO:0005267 9.16 KCNMA1 KCNIP1
4 potassium channel regulator activity GO:0015459 8.96 KCNMB1 KCNIP1
5 calcium-activated potassium channel activity GO:0015269 8.62 KCNMB1 KCNMA1

Sources for Hypertension, Diastolic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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