EHT
MCID: HYP595
MIFTS: 69

Hypertension, Essential (EHT) malady

Categories: Genetic diseases, Cardiovascular diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hypertension, Essential

Aliases & Descriptions for Hypertension, Essential:

Name: Hypertension, Essential 54 13 42
Essential Hypertension 12 66 29 52 14 69
Hypertension 54 38 29 3
Hypertension, Salt-Sensitive Essential, Susceptibility to Drug Sensitivity 24
Susceptibility to Salt-Sensitive Essential Hypertension 24
Hypertension, Essential, Susceptibility to, 5 13
Hypertension, Essential, Susceptibility to, 1 13
Hypertension, Essential, Susceptibility to, 3 13
Hypertension, Essential, Susceptibility to, 2 13
Hypertension, Essential, Susceptibility to, 6 13
Hypertension, Essential, Susceptibility to, 4 13
Hypertension, Essential, Salt-Sensitive 54
Hypertension, Salt-Sensitive Essential 54
Hypertension, Essential 3 54
Hypertension, Essential 6 54
Hypertension, Essential 4 54
Hypertension, Essential 2 54
Hypertension, Essential 1 54
Hypertension, Essential 5 54
Idiopathic Hypertension 12
Primary Hypertension 12
Hypertensive Disease 69
Eht 66

Characteristics:

HPO:

32
hypertension, essential:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 54 145500
Disease Ontology 12 DOID:10825
ICD9CM 35 401 401.9
NCIt 47 C3478
MedGen 40 C0085580
UMLS 69 C0085580

Summaries for Hypertension, Essential

OMIM : 54 The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple... (145500) more...

MalaCards based summary : Hypertension, Essential, also known as essential hypertension, is related to myocardial infarction and pulmonary hypertension, and has symptoms including elevated systolic blood pressure, elevated mean arterial pressure and elevated diastolic blood pressure. An important gene associated with Hypertension, Essential is PTGIS (Prostaglandin I2 Synthase), and among its related pathways/superpathways are p70S6K Signaling and AMPK Enzyme Complex Pathway. The drugs Adcirca and Adempas have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and lung, and related phenotypes are adipose tissue and cardiovascular system

Disease Ontology : 12 A hypertension with no known cause. It is the most common type of hypertension.

CDC : 3 About 1 of 3 U.S. adults—or about 75 million people—have high blood pressure.1Only about half (54%) of these people have their high blood pressure under control.1 This common condition increases the risk for heart disease and stroke, 2 of the leading causes of death for Americans.2Get more quick facts about high blood pressure, or learn more about high blood pressure in the United States.

UniProtKB/Swiss-Prot : 66 Essential hypertension: A condition in which blood pressure is consistently higher than normal with no identifiable cause.

Wikipedia : 71 Essential hypertension (also called primary hypertension or idiopathic hypertension) is the form of... more...

Related Diseases for Hypertension, Essential

Diseases in the Familial Hypertension family:

Hypertension, Essential Hypertension, Essential 7
Hypertension, Essential 8 Malignant Essential Hypertension
Malignant Hypertension Benign Essential Hypertension
Benign Secondary Hypertension Malignant Secondary Hypertension

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

(show top 50) (show all 105)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 29.6 ACE ADD1 AGT AGTR1 GNB3 INS
2 pulmonary hypertension 12.4
3 portal hypertension 12.3
4 pulmonary hypertension, familial primary, 1, with or without hht 12.3
5 renovascular hypertension 12.2
6 hypertensive heart disease 12.2
7 hypertensive encephalopathy 12.2
8 hypertension and brachydactyly syndrome 12.2
9 malignant essential hypertension 12.2
10 benign essential hypertension 12.1
11 hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 12.1
12 intracranial hypertension, idiopathic 12.1
13 ocular hypertension 12.1
14 hypertensive retinopathy 12.1
15 chronic thromboembolic pulmonary hypertension 12.0
16 pulmonary hypertension, primary, 4 12.0
17 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 12.0
18 heritable pulmonary arterial hypertension 12.0
19 hypertension, essential 7 12.0
20 hypertension, essential 8 12.0
21 pulmonary hypertension, primary, 3 11.9
22 intracranial hypertension 11.9
23 pulmonary hypertension, primary, 2 11.9
24 nephronophthisis-like nephropathy 1 10.8
25 penile cancer, childhood 10.5 ACE ADD1 AGT
26 prostate neuroendocrine neoplasm 10.5 ACE AGT AGTR1 REN
27 eye degenerative disease 10.5 ACE AGT AGTR1 NOS3
28 cascade stomach 10.5 ACE AGT AGTR1 REN
29 hyperuricemic nephropathy, familial juvenile 2 10.5 ACE AGT AGTR1 REN
30 eastern equine encephalitis 10.5 ACE AGT AGTR1 REN
31 cetp-related hyperalphalipoproteinemia 10.5 ACE AGT AGTR1 INS
32 flat umbilicus familial 10.5 ACE AGT AGTR1 REN
33 preaxial polydactyly of fingers 10.5 ACE AGT AGTR1
34 joint disorders 10.5 ACE AGTR1 INS NOS3
35 agammaglobulinemia 6 10.5 ACE AGT AGTR1 INS
36 hypogonadism mitral valve prolapse mental retardation 10.5 ACE CYP11B2 REN
37 laryngostenosis 10.5 ACE AGT AGTR1 CYP11B2
38 lymphadenitis 10.5 ACE AGTR1 NOS3 REN
39 cerebral convexity meningioma 10.5 ACE AGT AGTR1 NOS3
40 familial nasal acilia 10.5 AGT AGTR1 CYP11B2 REN
41 mental retardation hypocupremia hypobetalipoproteinemia 10.5 ADD1 AGT AGTR1
42 iris disease 10.5 ACE AGT AGTR1 NOS3 REN
43 clear cell adenocarcinoma 10.5 ACE AGTR1 CYP11B2 REN
44 hypoaldosteronism, congenital, due to cmo i deficiency 10.5 AGT CYP11B2 REN
45 pyelonephritis 10.5 ACE NOS2 NOS3 REN
46 gastrointestinal lymphoma 10.5 ACE ADD1 NOS3 REN
47 limb ischemia 10.5 ACE INS NOS3 REN
48 petrositis 10.5 ACE AGTR1 REN
49 citrullinemia, type ii, neonatal-onset 10.5 ACE AGTR1 INS NOS3
50 aplasia cutis congenita recessive 10.5 ACE AGT AGTR1 CYP11B2 GNB3 NOS3

Comorbidity relations with Hypertension, Essential via Phenotypic Disease Network (PDN): (show top 50) (show all 296)


Abducens Nerve Disease Achilles Bursitis
Acquired Polycythemia Active Peptic Ulcer Disease
Acute Closed-Angle Glaucoma Acute Conjunctivitis
Acute Cystitis Acute Ethmoiditis
Acute Kidney Failure Acute Maxillary Sinusitis
Acute Myocardial Infarction Acute Pancreatitis
Acute Stress Disorder Adjustment Disorder
Adrenal Gland Disease Alcohol Abuse
Allergic Rhinitis Allergic Urticaria
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Anxiety Disorder
Aortic Aneurysm Aortic Atherosclerosis
Asthma, Phf11-Related Atrioventricular Block
Atrophic Gastritis Atypical Depressive Disorder
Auditory System Disease Autonomic Nervous System Disease
Basilar Artery Insufficiency Benign Paroxysmal Positional Nystagmus
Bipolar Disorder Bleeding Disorder, Platelet-Type, 11
Blepharitis Borderline Glaucoma
Borderline Personality Disorder Brain Cancer
Brain Compression Brain Edema
Brain Small Vessel Disease with or Without Ocular Anomalies Branch Retinal Artery Occlusion
Bronchitis Buerger Disease
Campylobacteriosis Cardiac Arrest
Cardiomyopathy, Familial Hypertrophic Central Nervous System Origin Vertigo
Central Retinal Artery Occlusion Central Retinal Vein Occlusion
Cerebral Arteritis Cerebral Atherosclerosis

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



Diseases related to Hypertension, Essential

Symptoms & Phenotypes for Hypertension, Essential

Symptoms by clinical synopsis from OMIM:

145500

Clinical features from OMIM:

145500

Human phenotypes related to Hypertension, Essential:

32
id Description HPO Frequency HPO Source Accession
1 elevated systolic blood pressure 32 HP:0004421
2 elevated mean arterial pressure 32 HP:0004972
3 elevated diastolic blood pressure 32 HP:0005117

UMLS symptoms related to Hypertension, Essential:


angina pectoris, chest pain, edema, syncope, tremor, equilibration disorder

MGI Mouse Phenotypes related to Hypertension, Essential:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.7 ACE AGT AGTR1 CYP11B2 INS NOS2
2 cardiovascular system MP:0005385 9.65 ACE AGT AGTR1 CYP11B2 ECE1 INS
3 renal/urinary system MP:0005367 9.28 NOS3 PTGIS REN ACE AGT AGTR1

Drugs & Therapeutics for Hypertension, Essential

FDA approved drugs:

(show all 6)
id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Adcirca 17 TADALAFIL Eli Lilly Approved May 2009
2
Adempas 17 RIOCIGUAT Bayer Healthcare Pharmaceuticals Approved October 2013
3
Covera-HS 17 VERAPAMIL HYDROCHLORIDE GD Searle, Alza Approved January 1996
4
Letairis 17 AMBRISENTAN Gilead Approved June 2007
5
Opsumit 17 MACITENTAN Actelion Pharmaceuticals Approved October 2013
6
Remodulin 17 TREPROSTINIL United Therapeutics Approved May 2002

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

(show top 50) (show all 918)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 4205-90-7 2803
2
Spironolactone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1952-01-7, 52-01-7 5833
3
Simvastatin Approved Phase 4,Phase 3,Phase 1,Phase 2 79902-63-9 54454
4
Indapamide Approved Phase 4,Phase 3 26807-65-8 3702
5
Perindopril Approved Phase 4,Phase 3,Phase 2 107133-36-8, 82834-16-0 107807
6
Captopril Approved Phase 4,Phase 3,Phase 1,Early Phase 1 62571-86-2 44093
7
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-93-5 3639
8
Nitrendipine Approved Phase 4,Phase 3,Phase 2 39562-70-4 4507
9
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 88150-42-9 2162
10
Losartan Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 114798-26-4 3961
11
Iron Approved Phase 4,Phase 2,Phase 1 7439-89-6 23925
12
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 147536-97-8 104865
13
Irbesartan Approved, Investigational Phase 4,Phase 3,Phase 2 138402-11-6 3749
14 Moxonidine Approved Phase 4,Phase 3 75438-57-2 4810
15
Ramipril Approved Phase 4,Phase 3,Phase 2,Phase 1 87333-19-5 5362129
16
Bisoprolol Approved Phase 4,Phase 3,Phase 1,Phase 2 66722-44-9 2405
17
Carvedilol Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 72956-09-3 2585
18
Iloprost Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 78919-13-8 6443959
19
Eplerenone Approved Phase 4,Phase 3,Phase 2,Phase 1 107724-20-9 150310 443872
20
Nifedipine Approved Phase 4,Phase 3,Phase 2,Phase 1 21829-25-4 4485
21
Nadolol Approved Phase 4,Phase 3,Phase 1 42200-33-9 39147
22
Fluvastatin Approved Phase 4,Phase 3 93957-54-1 1548972
23
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 137862-53-4 60846
24
Enalapril Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 75847-73-3 5362032 40466924
25
Enalaprilat Approved Phase 4,Phase 3,Phase 2,Phase 1 76420-72-9 6917719
26
Nebivolol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 152520-56-4, 99200-09-6, 118457-14-0 71301
27
Telmisartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 144701-48-4 65999
28
Lisinopril Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 83915-83-7 5362119
29
Nicardipine Approved Phase 4,Phase 3,Phase 2,Phase 1 55985-32-5 4474
30
Amiloride Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2016-88-8, 2609-46-3 16231
31
Epoprostenol Approved Phase 4,Phase 3,Phase 2 61849-14-7, 35121-78-9 5280427 5282411
32
Tadalafil Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 171596-29-5 110635
33
Benazepril Approved, Investigational Phase 4,Phase 3,Phase 2 86541-75-5 5362124
34
Candesartan Approved Phase 4,Phase 3,Phase 2,Phase 1 139481-59-7 2541
35
Eprosartan Approved Phase 4,Phase 3 133040-01-4 5281037
36
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
37
Fosinopril Approved Phase 4,Phase 2 98048-97-6 55891
38
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
39
Olmesartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 144689-24-7, 144689-63-4 158781 130881
40
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
41
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
42
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
43
Trandolapril Approved Phase 4,Phase 3 87679-37-6 5484727
44
Travoprost Approved Phase 4,Phase 3,Phase 2,Phase 1 157283-68-6 5282226
45
Felodipine Approved, Investigational Phase 4,Phase 3,Phase 1 72509-76-3 3333
46
Metoprolol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 37350-58-6, 51384-51-1 4171
47
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 3 525-66-6 4946
48
Latanoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130209-82-4 5282380 5311221
49
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
50
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 5045)
id Name Status NCT ID Phase
1 Home Blood Pressure in Hypertension Management Unknown status NCT00841308 Phase 4
2 Resistant Hypertension Optimal Treatment Unknown status NCT01643434 Phase 4
3 Study About Simvastatin in Portal Hypertension in Compensated Cirrhosis Unknown status NCT01282398 Phase 4
4 The Hypertension in the Very Elderly Trial (HYVET) Unknown status NCT00122811 Phase 4
5 Treatment of Hypertension in Tibetan Adult Population Unknown status NCT02217852 Phase 4
6 Addition of Spironolactone in Patients With Resistant Arterial Hypertension Unknown status NCT00524615 Phase 4
7 Hypertension Control Based on Home Blood Pressure Unknown status NCT00198562 Phase 4
8 Effect of Aliskiren and Hydrochlorothiazide on Kidney Oxygenation in Patients With Hypertension Unknown status NCT01519635 Phase 4
9 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4
10 Comparison of Efficacy Different Treatment Regimens in Pulmonary Hypertension Secondary to Lung Disease and or Hypoxia Unknown status NCT01449253 Phase 4
11 The Effect of Moxonidine on Blood Pressure and Regression of Early Target Organ Damage in Young Subjects With Abdominal Obesity and Hypertension Unknown status NCT01360710 Phase 4
12 Safety and Efficacy of Ramipril in the Treatment of Essential Hypertension Unknown status NCT00366119 Phase 4
13 Comparison of Effect of cARvedilol Compared To bISoprolol on cenTral Pulse Pressure in Hypertension (ARTIST) Study Unknown status NCT01243827 Phase 4
14 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
15 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
16 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension Unknown status NCT01472796 Phase 4
17 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4
18 A Study of Nifecardia SRFC and Adalat OROS in the Treatment of Patients With Essential Hypertension Unknown status NCT00173667 Phase 4
19 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4
20 Hemodynamic Effect of Simvastatin With Beta Blockers in Clinical Portal Hypertension Unknown status NCT01282385 Phase 4
21 Monotherapy Versus Dual Therapy for Initial Treatment for Hypertension Unknown status NCT00994617 Phase 4
22 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4
23 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4
24 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Unknown status NCT01051960 Phase 4
25 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4
26 Treatment of HYpertension: Morning Versus Evening Unknown status NCT02214498 Phase 4
27 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease (COPD) Unknown status NCT01116063 Phase 4
28 BRAVE Study With Uncontrolled Essential Hypertension (BRAVE Study) Unknown status NCT02398929 Phase 4
29 Comparative Study of the Effects of Telmisartan and Nebivolol Unknown status NCT02057328 Phase 4
30 The Short-term Efficacy of Gastrodia and Uncaria Drink in Treating Hypertension Unknown status NCT02156024 Phase 4
31 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4
32 Dose Titration of Lisinopril in Children Aged 1 to 18 Years With Primary or Secondary Hypertension Unknown status NCT02184858 Phase 4
33 IV Double and Triple Concentrated Nicardipine for Stroke and ICH Unknown status NCT00325793 Phase 4
34 Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study Unknown status NCT00637065 Phase 4
35 Effects of Angiotensin II Receptor Blocker Compared With Diuretics in High-risk Hypertensive Patients Unknown status NCT01011660 Phase 4
36 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4
37 Is There an Adverse Drug Reaction Between Renin-Angiotensin System Blockade and Inhaled Anesthetics Unknown status NCT01715584 Phase 4
38 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4
39 Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent)or Travoprost Unknown status NCT01443988 Phase 4
40 Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent Inject) or Travoprost Unknown status NCT01444040 Phase 4
41 Combined Antihypertensive Therapy and Sexual Dysfunction Unknown status NCT01238705 Phase 4
42 Study on B-blockers to Prevent Decompensation of Cirrhosis With HTPortal Unknown status NCT01059396 Phase 4
43 Danshen Dropping Pill for Coronary Heart Disease Heart and Artery Structure and Function Unknown status NCT01825759 Phase 4
44 Efficacy of the Brand-name Latanoprost and One of Its Generic Version in Primary Open Angle Glaucoma and Ocular Hypertension Unknown status NCT02047630 Phase 4
45 Investigator Initiated Randomized Open-label Comparative Study of Britomar (Prolonged Release Torasemide) and Diuver (Torasemide) to Assess Effects on Natriuresis and Central Hemodynamics. Unknown status NCT02087332 Phase 4
46 Targeting Microvascular Dysfunction in Young Hypertensive Patients Unknown status NCT01047423 Phase 4
47 IntraVitreal Triamcinolone Acetonide: Preventing Raised Eye-pressure by Tracking Elevations After Topical Steroids Unknown status NCT00744666 Phase 4
48 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4
49 Left Atrial Remodelling in Hypertension: Effects of Ramipril or Irbesartan Unknown status NCT00517322 Phase 4
50 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Unknown status NCT01042158 Phase 4

Search NIH Clinical Center for Hypertension, Essential

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypertension, essential

Genetic Tests for Hypertension, Essential

Genetic tests related to Hypertension, Essential:

id Genetic test Affiliating Genes
1 Essential Hypertension 29
2 Hypertension 29
3 Susceptibility to Salt-Sensitive Essential Hypertension 24 CYP3A5

Anatomical Context for Hypertension, Essential

MalaCards organs/tissues related to Hypertension, Essential:

39
Heart, Smooth Muscle, Lung, Testes, Endothelial, Liver, Prostate

Publications for Hypertension, Essential

Articles related to Hypertension, Essential:

id Title Authors Year
1
Comparison of the twenty-four-hour blood pressure profile in elderly subjects with isolated systolic hypertension, essential hypertension and normotension. ( 1818900 )
1991

Variations for Hypertension, Essential

ClinVar genetic disease variations for Hypertension, Essential:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 PTGIS PTGIS, IVS9, T-C, +2 single nucleotide variant Pathogenic
3 AGT AGT, -6A HAPLOTYPE single nucleotide variant Pathogenic,risk factor
4 COL4A5 NM_000495.4(COL4A5): c.1871G> A (p.Gly624Asp) single nucleotide variant Pathogenic rs104886142 GRCh37 Chromosome X, 107842023: 107842023
5 PKD2 NM_000297.3(PKD2): c.357_364delCCCGGGCAinsTAGGACG (p.Pro120Argfs) indel Pathogenic rs1057518797 GRCh38 Chromosome 4, 88008090: 88008097
6 MEN1 NM_000244.3(MEN1): c.669+1delG deletion Pathogenic rs1057518903 GRCh38 Chromosome 11, 64807890: 64807890
7 PKD1 NM_000296.3(PKD1): c.8311G> A (p.Glu2771Lys) single nucleotide variant Pathogenic rs1057518897 GRCh37 Chromosome 16, 2153747: 2153747
8 PKD1 NM_000296.3(PKD1): c.3520C> T (p.Gln1174Ter) single nucleotide variant Pathogenic rs1057518899 GRCh37 Chromosome 16, 2161648: 2161648

Copy number variations for Hypertension, Essential from CNVD:

7 (show all 17)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 71427 12 69818942 132349534 Copy number Hypertension
2 109399 17 25800000 31800000 Gain Hypertension
3 112710 17 40930407 78774742 Copy number Hypertension
4 137134 2 138750000 144750000 Deletion