Aliases & Classifications for Hypertension, Diastolic

MalaCards integrated aliases for Hypertension, Diastolic:

Name: Hypertension, Diastolic 57
Hypertension, Diastolic, Resistance to 57 29 13 6 40
Diastolic Hypertension 55 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertension, diastolic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608622
MedGen 42 C1837739
SNOMED-CT via HPO 69 263681008
UMLS 73 C0235222

Summaries for Hypertension, Diastolic

MalaCards based summary : Hypertension, Diastolic, also known as hypertension, diastolic, resistance to, is related to renovascular hypertension and vasculogenic impotence. 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 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Renin secretion. Affiliated tissues include heart and endothelial, and related phenotypes are elevated diastolic blood pressure and cardiovascular 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 top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 renovascular hypertension 28.8 ACE NPPA REN
2 vasculogenic impotence 10.3 ACE NPPA
3 syndrome of inappropriate antidiuretic hormone 10.3 ACE NPPA
4 idiopathic edema 10.3 ACE NPPA
5 tuberculous meningitis 10.3 GGT1 NPPA
6 mitral valve insufficiency 10.2 ACE NPPA
7 postural hypotension 10.2 NPPA REN
8 granulomatous hepatitis 10.1 ACE GGT1
9 mitral valve disease 10.1 ACE NPPA
10 hyporeninemic hypoaldosteronism 10.1 ACE REN
11 renal artery obstruction 10.1 ACE REN
12 hypertensive encephalopathy 10.1 ACE REN
13 diastolic heart failure 10.1
14 hypertensive retinopathy 10.1 ACE REN
15 orthostatic proteinuria 10.1 ACE REN
16 idiopathic hypercalciuria 10.1 NPPA REN
17 atrial septal defect 4 10.1 ACE REN
18 malignant essential hypertension 10.1 ACE REN
19 anuria 10.1 ACE REN
20 fibromuscular dysplasia 10.1 ACE REN
21 pericardial effusion 10.1 NPPA REN
22 renal hypertension 10.0 ACE REN
23 renal tubular dysgenesis 10.0 ACE REN
24 acute kidney failure 10.0 NPPA REN
25 ureteral disease 10.0 ACE REN
26 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 ACE REN
27 interstitial nephritis 10.0 ACE REN
28 microvascular complications of diabetes 3 10.0 ACE REN
29 oligohydramnios 10.0 ACE REN
30 aortic valve disease 1 9.9 ACE REN
31 urinary tract obstruction 9.9 GGT1 REN
32 obstructive jaundice 9.9 GGT1 REN
33 pulmonary edema 9.9 ACE REN
34 hypokalemia 9.9 ACE REN
35 polycystic kidney disease 1 with or without polycystic liver disease 9.8 ACE REN
36 renal dysplasia 9.8 ACE REN
37 sexual disorder 9.8 ACE KCNMA1
38 sleep apnea 9.8 ACE REN
39 glucose metabolism disease 9.8 ACE REN
40 urinary system disease 9.7 ACE REN
41 iga glomerulonephritis 9.7 ACE REN
42 pheochromocytoma 9.6
43 aging 9.6
44 endotheliitis 9.6
45 hypoaldosteronism 9.6 ACE NPPA REN
46 renal artery disease 9.6 ACE NPPA REN
47 malignant hypertension 9.6 ACE NPPA REN
48 hepatorenal syndrome 9.6 ACE NPPA REN
49 arteries, anomalies of 9.6 ACE REN
50 pure autonomic failure 9.6 ACE NPPA 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:

57
Cardiovascular Vascular:
resistance to moderate and severe diastolic hypertension


Clinical features from OMIM:

608622

Human phenotypes related to Hypertension, Diastolic:

32
# Description HPO Frequency HPO Source Accession
1 elevated diastolic blood pressure 32 HP:0005117

MGI Mouse Phenotypes related to Hypertension, Diastolic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 ACE KCNMA1 KCNMB1 NPPA REN
2 muscle MP:0005369 9.26 KCNMA1 KCNMB1 NPPA REN
3 renal/urinary system MP:0005367 9.1 REN ACE GGT1 KCNMA1 KCNMB1 NPPA

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 29 KCNMB1

Anatomical Context for Hypertension, Diastolic

MalaCards organs/tissues related to Hypertension, Diastolic:

41
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
Novel mechanism and role of angiotensin II induced vascular endothelial injury in hypertensive diastolic heart failure. ( 17932313 )
2007
7
Association of ACE genotype and predominantly diastolic hypertension: a preliminary study. ( 17487825 )
2007
8
Procoagulant stress reactivity and recovery in apparently healthy men with systolic and diastolic hypertension. ( 17586337 )
2007
9
Therapeutic effects of angiotensin II type 1 receptor blocker at an advanced stage of hypertensive diastolic heart failure. ( 17211254 )
2007
10
ACE inhibitor and angiotensin II type 1 receptor blocker differently regulate ventricular fibrosis in hypertensive diastolic heart failure. ( 15662228 )
2005
11
Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk. ( 16293791 )
2005
12
Ventricular volume and length in hypertensive diastolic heart failure. ( 16198882 )
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
I/D polymorphism of the angiotensin-converting enzyme gene does not predict isolated systolic or systolic-diastolic hypertension in the elderly. ( 8733034 )
1996
18
Regression of left ventricular hypertrophy in experimental renovascular hypertension: diastolic dysfunction depends more on myocardial collagen than it does on myocardial mass. ( 8986913 )
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
2 KCNMB1 NM_004137.3(KCNMB1): c.193G> A (p.Glu65Lys) single nucleotide variant protective rs11739136 GRCh38 Chromosome 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 ACE REN
2 10.61 ACE KCNMA1 REN
3
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 9.43 ACE GGT1 KCNIP1 KCNMA1 KCNMB1 REN
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNIP1 KCNMA1 KCNMB1

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

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.43 KCNIP1 KCNMA1 KCNMB1
2 response to calcium ion GO:0051592 9.37 KCNMA1 KCNMB1
3 potassium ion transmembrane transport GO:0071805 9.33 KCNIP1 KCNMA1 KCNMB1
4 amyloid-beta metabolic process GO:0050435 9.32 ACE REN
5 angiotensin maturation GO:0002003 8.96 ACE REN
6 regulation of blood pressure GO:0008217 8.8 ACE NPPA REN

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 ACE GGT1 REN
2 endopeptidase activity GO:0004175 9.26 ACE REN
3 potassium channel activity GO:0005267 9.16 KCNIP1 KCNMA1
4 potassium channel regulator activity GO:0015459 8.96 KCNIP1 KCNMB1
5 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
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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