Aliases & Classifications for Hypertension, Diastolic

MalaCards integrated aliases for Hypertension, Diastolic:

Name: Hypertension, Diastolic 53
Hypertension, Diastolic, Resistance to 53 28 13
Diastolic Hypertension 51 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hypertension, diastolic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 608622
MedGen 39 C1837739
SNOMED-CT via HPO 65 263681008
UMLS 69 C0235222

Summaries for Hypertension, Diastolic

MalaCards based summary : Hypertension, Diastolic, also known as hypertension, diastolic, resistance to, is related to renovascular hypertension and diastolic heart failure, and has symptoms including elevated diastolic blood pressure 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 Potassium Channels and ACE Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include heart and endothelial, and related phenotypes are renal/urinary system and reproductive system

Description from OMIM: 608622

Related Diseases for Hypertension, Diastolic

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 29.5 ACE REN
2 diastolic heart failure 10.1
3 granulomatous hepatitis 10.1 ACE GGT1
4 hyporeninemic hypoaldosteronism 10.1 ACE REN
5 renal artery obstruction 10.1 ACE REN
6 hypoaldosteronism 10.1 ACE REN
7 atrial septal defect 4 10.1 ACE REN
8 hypertensive retinopathy 10.0 ACE REN
9 orthostatic proteinuria 10.0 ACE REN
10 renal artery disease 10.0 ACE REN
11 malignant essential hypertension 10.0 ACE REN
12 anuria 10.0 ACE REN
13 malignant hypertension 10.0 ACE REN
14 fibromuscular dysplasia 10.0 ACE REN
15 hepatorenal syndrome 10.0 ACE REN
16 renal hypertension 10.0 ACE REN
17 oligohydramnios 10.0 ACE REN
18 pure autonomic failure 10.0 ACE REN
19 renal tubular dysgenesis 10.0 ACE REN
20 ureteral disease 10.0 ACE REN
21 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 ACE REN
22 interstitial nephritis 10.0 ACE REN
23 renal dysplasia 10.0 ACE REN
24 urinary tract obstruction 10.0 GGT1 REN
25 aortic valve disease 1 10.0 ACE REN
26 obstructive jaundice 10.0 GGT1 REN
27 pulmonary edema 10.0 ACE REN
28 hypokalemia 10.0 ACE REN
29 sleep apnea 9.9 ACE REN
30 aortic valve disease 2 9.9 ACE REN
31 urinary system disease 9.9 ACE REN
32 iga glomerulonephritis 9.9 ACE REN
33 glucose metabolism disease 9.9 ACE REN
34 arteries, anomalies of 9.9 ACE REN
35 sexual disorder 9.9 ACE KCNMA1
36 acquired metabolic disease 9.9 ACE REN
37 conn's syndrome 9.8 ACE REN
38 congestive heart failure 9.8 ACE REN
39 fibrosis of extraocular muscles, congenital, 1 9.8
40 autosomal dominant polycystic kidney disease 9.8 ACE REN
41 chronic kidney failure 9.7 ACE REN
42 cerebrovascular disease 9.7 ACE REN
43 pheochromocytoma 9.7
44 aging 9.7
45 blood group, i system 9.7
46 portal hypertension 9.7
47 endotheliitis 9.7
48 liver cirrhosis 9.5 GGT1 REN

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



Diseases related to Hypertension, Diastolic

Symptoms & Phenotypes for Hypertension, Diastolic

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Vascular:
resistance to moderate and severe diastolic hypertension


Clinical features from OMIM:

608622

Human phenotypes related to Hypertension, Diastolic:

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

MGI Mouse Phenotypes related to Hypertension, Diastolic:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.35 ACE GGT1 KCNMA1 KCNMB1 REN
2 reproductive system MP:0005389 8.92 ACE GGT1 KCNMA1 REN

Drugs & Therapeutics for Hypertension, Diastolic

Search Clinical Trials , 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 28 KCNMB1

Anatomical Context for Hypertension, Diastolic

MalaCards organs/tissues related to Hypertension, Diastolic:

38
Heart, Endothelial

Publications for Hypertension, Diastolic

Articles related to Hypertension, Diastolic:

(show all 18)
# Title Authors Year
1
Assessment of relationship between galectin-3 and ambulatory ECG-based microvolt T-wave alternans in sustained systolic-diastolic hypertension patients. ( 27116288 )
2016
2
Atorvastatin ameliorates cardiac fibrosis and improves left ventricular diastolic function in hypertensive diastolic heart failure model rats. ( 24759122 )
2014
3
Gestational diastolic hypertension with gene mutation-related pheochromocytoma positive at A^a8,F-DOPA PET/CT: diagnostic and therapeutic implications. ( 23153989 )
2013
4
An unusual case of hypertensive diastolic heart failure with bilateral subclavian artery stenosis. ( 19214295 )
2009
5
Beneficial effects of bisoprolol on the survival of hypertensive diastolic heart failure model rats. ( 18400557 )
2008
6
Procoagulant stress reactivity and recovery in apparently healthy men with systolic and diastolic hypertension. ( 17586337 )
2007
7
Novel mechanism and role of angiotensin II induced vascular endothelial injury in hypertensive diastolic heart failure. ( 17932313 )
2007
8
Association of ACE genotype and predominantly diastolic hypertension: a preliminary study. ( 17487825 )
2007
9
Therapeutic effects of angiotensin II type 1 receptor blocker at an advanced stage of hypertensive diastolic heart failure. ( 17211254 )
2007
10
Ventricular volume and length in hypertensive diastolic heart failure. ( 16198882 )
2005
11
ACE inhibitor and angiotensin II type 1 receptor blocker differently regulate ventricular fibrosis in hypertensive diastolic heart failure. ( 15662228 )
2005
12
Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk. ( 16293791 )
2005
13
Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension. ( 15057310 )
2004
14
AT1 receptor blocker added to ACE inhibitor provides benefits at advanced stage of hypertensive diastolic heart failure. ( 14757777 )
2004
15
Effects of amlodipine and lisinopril on left ventricular mass and diastolic function in previously untreated patients with mild to moderate diastolic hypertension. ( 9657538 )
1998
16
Posttransplant diastolic hypertension: associations with intragraft transforming growth factor-beta, endothelin, and renin transcription. ( 9422408 )
1997
17
Regression of left ventricular hypertrophy in experimental renovascular hypertension: diastolic dysfunction depends more on myocardial collagen than it does on myocardial mass. ( 8986913 )
1996
18
I/D polymorphism of the angiotensin-converting enzyme gene does not predict isolated systolic or systolic-diastolic hypertension in the elderly. ( 8733034 )
1996

Variations for Hypertension, Diastolic

ClinVar genetic disease variations for Hypertension, Diastolic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNMB1 NM_004137.3(KCNMB1): c.193G> A (p.Glu65Lys) single nucleotide variant protective rs11739136 GRCh37 Chromosome 5, 169810796: 169810796

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
11.43 KCNMA1 KCNMB1
2
Show member pathways
11.06 ACE REN
3 10.61 ACE KCNMA1 REN
4
Show member pathways
10.58 KCNMA1 KCNMB1

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 9.35 ACE GGT1 KCNMA1 KCNMB1 REN
2 voltage-gated potassium channel complex GO:0008076 8.62 KCNMA1 KCNMB1

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.54 ACE GGT1 REN
2 potassium ion transport GO:0006813 9.43 KCNMA1 KCNMB1
3 potassium ion transmembrane transport GO:0071805 9.4 KCNMA1 KCNMB1
4 kidney development GO:0001822 9.32 ACE REN
5 regulation of blood pressure GO:0008217 9.26 ACE REN
6 response to calcium ion GO:0051592 9.16 KCNMA1 KCNMB1
7 amyloid-beta metabolic process GO:0050435 8.96 ACE REN
8 angiotensin maturation GO:0002003 8.62 ACE REN

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.16 ACE REN
2 peptidase activity GO:0008233 9.13 ACE GGT1 REN
3 calcium-activated potassium channel activity GO:0015269 8.62 KCNMA1 KCNMB1

Sources for Hypertension, Diastolic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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