Aliases & Classifications for Syncope

MalaCards integrated aliases for Syncope:

Name: Syncope 53 29 6


Summaries for Syncope

NINDS : 53 Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or “passing out.” If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may “white out” or “black out.”  The skin may be cold and clammy.  The person drops to the floor as he or she loses consciousness.  After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal.  Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly.  There are several types of syncope.  Vasovagal syncope usually has an easily identified triggering event such as emotional stress, trauma, pain, the sight of blood, or prolonged standing.  Carotid sinus syncope happens because of constriction of the carotid artery in the neck and can occur after turning the head, while shaving, or when wearing a tight collar.  Situational syncope happens during urination, defecation, coughing, or as a result of gastrointestinal stimulation.  Syncope can also be a symptom of heart disease or abnormalities that create an uneven heart rate or rhythm that temporarily affect blood volume and its distribution in the body.  Syncope isn’t normally a primary sign of a neurological disorder, but it may indicate an increased risk for neurologic disorders such as Parkinson’s disease, postural orthostatic tachycardia syndrome (POTS), diabetic neuropathy, and other types of neuropathy.  Certain classes of drugs are associated with an increased risk of syncope, including diuretics, calcium antagonists, ACE inhibitors, nitrates, antipsychotics, antihistamines, levodopa, narcotics, and alcohol.

MalaCards based summary : Syncope is related to atrial standstill and first-degree atrioventricular block. An important gene associated with Syncope is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Cardiac conduction. The drugs Amlodipine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include heart, temporal lobe and whole blood, and related phenotypes are cardiovascular system and muscle

Related Diseases for Syncope

Diseases related to Syncope via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 10.2 SCN5A NPPA
2 first-degree atrioventricular block 10.2 SCN5A KCNH2
3 long qt syndrome 10 10.2 SCN5A KCNQ1
4 familial short qt syndrome 10.2 KCNQ1 KCNH2
5 dopamine beta-hydroxylase deficiency 10.1 SLC6A2 DBH
6 left ventricular noncompaction 1 10.1 SCN5A ACTN2
7 right bundle branch block 10.1 SCN5A KCNH2
8 long qt syndrome 14 10.1 SCN5A KCNQ1 KCNH2
9 long qt syndrome 12 10.1 SCN5A KCNQ1 KCNH2
10 long qt syndrome 13 10.1 SCN5A KCNQ1 KCNH2
11 oppositional defiant disorder 10.1 SLC6A2 DBH
12 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
13 pure autonomic failure 10.1 NPPA DBH
14 brugada syndrome 4 10.1 SCN5A KCNQ1 KCNH2
15 long qt syndrome 5 10.1 SCN5A KCNQ1 KCNH2
16 long qt syndrome 6 10.1 SCN5A KCNQ1 KCNH2
17 long qt syndrome 9 10.1 SCN5A KCNQ1 KCNH2
18 idiopathic ventricular fibrillation, non brugada type 10.1 SCN5A RYR2
19 jervell and lange-nielsen syndrome 1 10.1 SCN5A KCNQ1 KCNH2
20 familial long qt syndrome 10.1 SCN5A KCNQ1 KCNH2
21 ebstein anomaly 10.0 TNNT2 SCN5A
22 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 RYR2 KCNH2
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 SCN5A KCNQ1 KCNH2
24 wolff-parkinson-white syndrome 10.0 TNNT2 SCN5A KCNQ1
25 brugada syndrome 1 9.9 SCN5A RYR2 KCNH2
26 neuromuscular junction disease 9.9 SCN5A RYR2 KCNH2
27 mitochondrial dna depletion syndrome 12b 9.9 TTN SCN5A
28 malignant hyperthermia 9.9 SCN5A RYR2 KCNH2
29 supravalvular aortic stenosis 9.9 SCN5A KCNH2
30 left bundle branch hemiblock 9.9 TNNT2 SCN5A RYR2
31 third-degree atrioventricular block 9.8 TTN SCN5A KCNH2
32 cardiomyopathy, familial hypertrophic, 4 9.8 TTN TNNT2
33 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.8 TTN RYR2
34 sinoatrial node disease 9.8 SCN5A RYR2 KCNQ1 KCNH2
35 cardiac conduction defect 9.8 SCN5A RYR2 KCNQ1 KCNH2
36 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.8 TTN RYR2
37 long qt syndrome 3 9.8 SCN5A RYR2 KCNQ1 KCNH2
38 andersen cardiodysrhythmic periodic paralysis 9.8 SCN5A RYR2 KCNQ1 KCNH2
39 timothy syndrome 9.8 SCN5A RYR2 KCNQ1 KCNH2
40 cardiac arrhythmia 9.8 SCN5A RYR2 KCNQ1 KCNH2
41 cardiac arrhythmia, ankyrin-b-related 9.8 SCN5A RYR2 KCNQ1 KCNH2
42 short qt syndrome 9.8 SCN5A RYR2 KCNQ1 KCNH2
43 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 SCN5A RYR2 KCNQ1 KCNH2
44 myasthenic syndrome, congenital, 5 9.8 SCN5A RYR2 KCNQ1 KCNH2
45 peripartum cardiomyopathy 9.8 TTN SCN5A
46 long qt syndrome 2 9.8 SCN5A RYR2 KCNQ1 KCNH2
47 sick sinus syndrome 9.8 TTN SCN5A NPPA
48 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.8 TTN RYR2
49 arrhythmogenic right ventricular dysplasia, familial, 1 9.7 TTN RYR2
50 cardiomyopathy, dilated, 1b 9.7 TTN TNNT2 SCN5A

Graphical network of the top 20 diseases related to Syncope:

Diseases related to Syncope

Symptoms & Phenotypes for Syncope

MGI Mouse Phenotypes related to Syncope:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 DBH KCNH2 KCNQ1 NPPA RYR2 SCN5A
2 muscle MP:0005369 9.5 KCNH2 KCNQ1 NPPA RYR2 SCN5A TNNT2
3 normal MP:0002873 9.1 DBH KCNQ1 RYR2 SCN5A TNNT2 TTN

Drugs & Therapeutics for Syncope

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

(show top 50) (show all 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Amlodipine Approved Phase 4 88150-42-9 2162
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
Losartan Approved Phase 4 114798-26-4 3961
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
Propranolol Approved, Investigational Phase 4 525-66-6 4946
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
7 Anti-Arrhythmia Agents Phase 4
8 Hormones Phase 4
9 Angiotensin Receptor Antagonists Phase 4
10 Angiotensinogen Phase 4
11 Antihypertensive Agents Phase 4
12 Angiotensin II Type 1 Receptor Blockers Phase 4
13 Giapreza Phase 4
14 calcium channel blockers Phase 4
15 Calcium, Dietary Phase 4
16 Vasodilator Agents Phase 4
17 Adrenergic Antagonists Phase 4
18 Adrenergic beta-Antagonists Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Neurotransmitter Agents Phase 4
21 Adrenergic Agents Phase 4
22 Sympathomimetics Phase 4
23 Adrenergic Agonists Phase 4
24 Vasoconstrictor Agents Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Levodopa Approved Phase 3 59-92-7 6047
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
Prazosin Approved Phase 3 19216-56-9 4893
Fludrocortisone Approved, Investigational Phase 3 127-31-1 31378
Ofloxacin Approved Phase 3 82419-36-1 4583
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 439542 10909430
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
Polymyxin B Approved, Vet_approved Phase 3 1404-26-8
36 Dopamine Agents Phase 3
37 Antidepressive Agents Phase 3
38 diuretics Phase 3
39 Dihydroxyphenylalanine Phase 3
40 Psychotropic Drugs Phase 3
41 Antipsychotic Agents Phase 3
42 Adrenergic alpha-1 Receptor Antagonists Phase 3
43 Adrenergic alpha-Antagonists Phase 3
44 Anti-Inflammatory Agents Phase 3
45 Antibiotics, Antitubercular Phase 3
46 Cytochrome P-450 Enzyme Inhibitors Phase 3
47 Clindamycin palmitate Phase 3
48 Anti-Infective Agents Phase 3
49 Anti-Bacterial Agents Phase 3
50 Clindamycin phosphate Phase 3

Interventional clinical trials:

(show top 50) (show all 170)
# Name Status NCT ID Phase Drugs
1 Assessment of Metoprolol in the Prevention of Vasovagal Syncope in Aging Subjects Unknown status NCT02123056 Phase 4 Metoprolol;Matching Placebo
2 Closed Loop Stimulation for Neuromediated Syncope Unknown status NCT01621464 Phase 4
3 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
4 ISSUE3: International Study on Syncope of Uncertain Etiology 3 Pacemaker Therapy for Patients With Asystolic Neurally-mediated Syncope Completed NCT00359203 Phase 4
5 The COMPAriSon of Systolic Blood Pressure Variability and Central Blood Pressure of Calcium Channel Blocker (Amlodipine) in Comparison With Angiotensin Receptor Blocker (Losartan) in Patients With Essential Hypertension Completed NCT01964079 Phase 4 Amlodipine;Losartan
6 A Randomized Clinical Trial of Fludrocortisone for Vasovagal Syncope: The Second Prevention of Syncope Trial (POST II) Completed NCT00118482 Phase 4 fludrocortisone acetate
7 Propranolol for Syncope With Sympathoadrenal Imbalance Completed NCT00060866 Phase 4 Propranolol
8 Early Loop-Recorder in Suspected Arrhythmogenic Syncope Completed NCT00170261 Phase 4
9 Effect of Pacemaker With Closed Loop Sensor on Quality of Life and Recurrence of Syncope in Patients With Neuromodulated Syncope Refractory to Medical Treatment: Randomized Double-blind Clinical Trial Recruiting NCT03876652 Phase 4
10 Assessment of Midodrine in the Prevention of Vasovagal Syncope: The Prevention of Syncope Trial IV (Post 4) Active, not recruiting NCT01456481 Phase 4 midodrine hydrochloride;matching placebo
11 Randomized Controlled Trial on Discontinuation of Vasoactive Drugs in Patients With Hypotensive Reflex Syncope Completed NCT02137278 Phase 3 Vasoactive drug therapies
12 CSP #563 - Prazosin and Combat Trauma PTSD (PACT) Completed NCT00532493 Phase 3 prazosin
13 Blood Donor Competence, Autonomy and Relatedness Enhancement (Blood Donor CARE) Completed NCT02717338 Phase 3
14 Comparison of Outcomes With Midodrine and Fludrocortisone for Objective Recurrence in Treating Syncope (COMFORTS Trial) Recruiting NCT04595942 Phase 3 Midodrine Hydrochloride Tablets;Fludrocortisone Acetate Tablets
15 Randomized Noninferiority Study of an Antibacterial Envelope Alone Versus Envelope Plus Intraoperative Antibacterial Irrigant and Postoperative Antibiotics to Prevent Cardiac Implantable Electronic Device Infections in High-Risk Patients Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
16 Benefit of Controlled Rehydration in Unexplained Syncope Terminated NCT00143754 Phase 3
17 Acarbose and Older Adults With Postprandial Hypotension Unknown status NCT01914133 Phase 2 Acarbose;Placebo
18 A Multicenter, Single-arm, Open-label Study of the Efficacy and Safety of Lenalidomide Monotherapy in Red Blood Cell Transfusion-dependent Subjects With Myelodysplastic Syndromes Associated With a Del(5q) Cytogenetic Abnormality. Completed NCT00065156 Phase 2 lenalidomide
19 A Proof of Principal Study of Atomoxetine for the Prevention of Vasovagal Syncope (POST 6) Completed NCT02874937 Phase 2 Atomoxetine;Matching Placebo
20 Preventing Adverse Reactions in Novice Blood Donors Completed NCT00302900 Phase 2
21 A Proof of Principle Study of Atomoxetine for the Prevention of Vasovagal Syncope (VVS): POST6 Completed NCT02500732 Phase 2 Atomoxetine;Placebo
22 Propranolol for Syncope With Sympathoadrenal Imbalance in Children Completed NCT00093860 Phase 2 Propranolol
23 Non-Pharmacologic Therapy for Neurocardiogenic Syncope Completed NCT00096902 Phase 2
24 A Phase II Study of Continuous Versus Syncopated Dosing of CC-5013 for the Treatment of Refractory Multiple Myeloma Completed NCT00051116 Phase 2 CC-5013
25 Northera Improves Postural Tachycardia Syndrome (POTS) and Postural Recruiting NCT02558972 Phase 2 Northera (Droxidopa);Placebo;Northera (Droxidopa);Placebo
26 ELectrophysiological Mechanisms Underlying the Inhibitory CArdiac Syncope: Therapeutic and Prognostic Implications The ELICA Study Completed NCT02861274 Phase 1
27 Reducing Orthostatic Intolerance With Oral Rehydration in Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Active, not recruiting NCT02854683 Phase 1 Normal Saline
28 EXercise for the Prevention of Syncope Evaluation Suspended NCT00203593 Phase 1
29 Comparison Between Standard and Bedside Ultrasound Integrated Approach for Risk Stratification of Patients Presenting With Syncope in the Emergency Department Unknown status NCT02781207
30 Pilot Clinical Study of the Sleuth Implantable ECG Monitoring System Unknown status NCT00719277
31 Observational Study of the Sleuth Implantable ECG Monitoring System Unknown status NCT00717106
32 Serum Lactate in Convulsive Syncopes Compared to Non-convulsive Syncopes Unknown status NCT03062683
33 Hypersensitive Troponin Performance to Identify Syncope at Risk of Serious Adverse Events in the Short Term Unknown status NCT03528161
34 Optimizing Diagnostics And Therapy Of Arrhythmia And Syncope Events Using Intelligent Telemetric Solutions. Diagnostics Of Syncope In Children. Unknown status NCT01265290
35 Effect of Dietary Salt Supplemantation in Vasovagal Syncope Prophylaxis: A Clinical Trial Unknown status NCT00465946
36 The Iliac Arterio-venous Fistula for Treatment of Neurally Mediated Syncope Study Unknown status NCT02388087
37 Respiration and Applied Tension Strategies to Reduce Vasovagal Reactions to Blood Donation Unknown status NCT03159156
38 Eastbourne Syncope Assessment Study II Unknown status NCT00517023
41 Optimizing Diagnostics And Therapy Of Arrhythmia And Syncope Events Using Intelligent Telemetric Solutions. Diagnostics Of Arrhythmia In Children Unknown status NCT01265771
42 Assessing the Risk of Pulmonary Embolism in Patients After Hospitalization for First Episode of Syncope Unknown status NCT03034525
43 Comparison of a Sternal ECG Patch With a Standard Recording System for Holter Monitoring Unknown status NCT02126631
44 Comparison of Continuous Sternal ECG Patch Monitors (Carnation and Zio) Trial Unknown status NCT02031484
45 REVEAL for Respiration Detection Unknown status NCT01956578
46 Evaluation of a Mobile Cardiac Outpatient Telemetry System (CardioNet) Versus Standard Loop Event Monitor: A Multi-Center Randomized Study Unknown status NCT00295204
47 NICE Guideline 'Red Flags' to Predict Serious Outcome After Transient Loss of Consciousness: Prospective Validation Study in the Emergency Department. Unknown status NCT01498471
48 Registry Of Acute meDical Emergencies in Brazil - ROAD-Brazil Unknown status NCT02753023
49 EPIcardial and Endocardial Mapping and Ablation Using Contact Force Catheter in Chagasic Patients With Sustained Ventricular Tachycardia Unknown status NCT01847378
50 BIO|CONCEPT.BIOMONITOR III Unknown status NCT03850327

Search NIH Clinical Center for Syncope

Genetic Tests for Syncope

Genetic tests related to Syncope:

# Genetic test Affiliating Genes
1 Syncope 29

Anatomical Context for Syncope

MalaCards organs/tissues related to Syncope:

Heart, Temporal Lobe, Whole Blood, Spinal Cord, Prostate, Endothelial, Liver

Publications for Syncope

Articles related to Syncope:

(show top 50) (show all 16352)
# Title Authors PMID Year
Ectopic pregnancy until proven otherwise … even with a negative serum hCG test: A case report. 61
33604247 2021
Medicinal plants as a potential source of Phosphodiesterase-5 inhibitors: A review. 61
33137431 2021
Objective improvement in adults with cerebellopontine angle arachnoid cysts after surgical treatment. 61
33511461 2021
Syncopal attacks in children: Is it cardiac or epilepsy related? 61
33513550 2021
Systemic and cerebral circulatory adjustment within the first 60 s after active standing: An integrative physiological view. 61
33385733 2021
Isolated syncope as a form of presentation of COVID-19 infection. 61
33309682 2021
Isolated primary neurolymphomatosis with cranial multineuritis: a case presentation. 61
33040194 2021
Fitness to Drive After Syncope and/or in Cardiovascular Disease - An Overview and Practical Advice. 61
32888697 2021
Classification of orthostatic intolerance through data analytics. 61
33582941 2021
A comparison of health-related quality of life in autonomic disorders: postural tachycardia syndrome versus vasovagal syncope. 61
33550497 2021
Diffuse midline glioma presenting with central sleep apnea and pulmonary hypertension in a 4-year-old patient: a case report. 61
33006310 2021
Right Atrioventricular Myxoma Presenting with Recurrent Syncopal Attacks. 61
33561115 2021
Primary pericardial angiosarcoma: A case report. 61
33559092 2021
Comparison between oral ferrous sulfate and intravenous ferric carboxymaltose in children with restless sleep disorder. 61
32840615 2021
Clinical picture: SDHD paraganglioma presenting with syncope. 61
33598293 2021
Syncope in Patients With Severe Aortic Stenosis: More Than Just an Obstruction Issue. 61
32439473 2021
Syncope in Patients with Cardiac Pacemakers. 61
33594860 2021
Long-term prognosis of patients with permanent cardiac pacemaker indication in three referral cardiac centers in Cameroon: Insights from the National pacemaker registry. 61
32778387 2021
[Marked increase in high-sensitivity troponin I without evidence of acute coronary syndrome]. 61
33470231 2021
Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology. 61
33419664 2021
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
Transient complete atrioventricular block and ST-segment elevation induced by coronary vasospasm due to iatrogenic hyperkalemia: a case report. 61
33568154 2021
Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies. 61
33562074 2021
Predicting mortality with cardiac troponins: recent insights from meta-analyses. 61
31622246 2021
Reducing Unnecessary Diagnostic Testing in Pediatric Syncope: A Quality Improvement Initiative. 61
33582873 2021
Focus on atrial fibrillation, syncope, and arrhythmias during COVID-19 pandemic. 61
33532851 2021
One-year results of the first-in-man study investigating the Atrial-Flow-Regulator for left-atrial shunting in symptomatic heart failure patients: the PRELIEVE study. 61
33555114 2021
Brugada phenocopy in a patient with unstable angina and three-vessel coronary artery disease. 61
33586167 2021
Prognostic value of left ventricular mechanical dyssynchrony in hypertrophic cardiomyopathy patients with low risk of sudden cardiac death. 61
33252510 2021
Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. 61
33588347 2021
Characteristics and Longer-Term Outcomes of Contemporary Patients <18 Years of Age With Hypertrophic Cardiomyopathy. 61
33159906 2021
The Changing Role of Chest Pain in the Emergency Department Observation Unit. 61
33534505 2021
Lead-related superior vena cava syndrome: Management and outcomes. 61
32920177 2021
Peer Pressure = Explosive Consequences: A Case Report of Toxic Ingestion of Cyclonite (C-4) Explosive on a Dare. 61
33560950 2021
Cardiovascular Effects of Medical Marijuana: A Systematic Review. 61
33186596 2021
Usefulness of a smartphone application for the diagnosis of epilepsy: Validation study in high-income and rural low-income countries. 61
33348193 2021
A case of cardiac tamponade due to coronary artery injury caused by atrial screw-in lead. 61
33520029 2021
Association between antihypertensive treatment and adverse events: systematic review and meta-analysis. 61
33568342 2021
Web Exclusive. Annals for Hospitalists Inpatient Notes - Identifying High-Risk Patients With Syncope-What Hospitalists Need to Know. 61
33587884 2021
Establishing a Smartphone Ambulatory ECG Service for Patients Presenting to the Emergency Department with Pre-Syncope and Palpitations. 61
33562066 2021
Cardiac pacing in severe recurrent reflex syncope and tilt-induced asystole. 61
33279955 2021
Syncope presenting to the emergency department. 61
33586173 2021
Impact of a specialist service in the Emergency Department on admission, length of stay and readmission of patients presenting with falls, syncope and dizziness. 61
32866245 2021
Impact of a specialist service in the emergency department on admission, length of stay and readmission of patients presenting with falls, syncope and dizziness. 61
33237326 2021
Response: Impact of a specialist service in the emergency department on admission, length of stay and readmission of patients presenting with falls, syncope and dizziness. 61
33237312 2021
Vasovagal Syncope-Reply. 61
33587099 2021
The benefit of cardioneuroablation to reduce syncope recurrence in vasovagal syncope patients: a case-control study. 61
33527216 2021
Low-blood pressure phenotype underpins the tendency to reflex syncope. 61
33560050 2021
Helium inhalation injuries managed at emergency departments. 61
32527163 2021
Prospective analysis of syncope/pre-syncope in a tertiary paediatric orthopaedic fracture outpatient clinic. 61
33605034 2021

Variations for Syncope

ClinVar genetic disease variations for Syncope:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTL6A NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) SNV Likely pathogenic 549661 rs868064163 3:179304340-179304340 3:179586552-179586552
2 SCN5A NM_001099404.1(SCN5A):c.1255C>T (p.Gln419Ter) SNV Likely pathogenic 374130 rs1057518916 3:38647525-38647525 3:38606034-38606034
3 RYR2 NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) SNV Uncertain significance 689574 rs1572596015 1:237659875-237659875 1:237496575-237496575
4 CTNNA3 NM_013266.4:c.1532_1884del Deletion Uncertain significance 978102
5 TTN NM_001267550.2(TTN):c.11311+4088A>G SNV Uncertain significance 47753 rs142304137 2:179613763-179613763 2:178749036-178749036
6 LIPT2 NM_005472.5(KCNE3):c.248G>A (p.Arg83His) SNV Uncertain significance 5541 rs17215437 11:74168361-74168361 11:74457316-74457316
7 ACTN2 NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) SNV Uncertain significance 178985 rs727504590 1:236902765-236902765 1:236739465-236739465
8 DSP NM_004415.4(DSP):c.1388T>C (p.Leu463Pro) SNV Uncertain significance 870076 6:7568791-7568791 6:7568558-7568558
9 SCN5A NM_000335.5(SCN5A):c.5150G>A (p.Ser1717Asn) SNV Uncertain significance 977176 3:38592710-38592710 3:38551219-38551219
10 MEFV NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) SNV Uncertain significance 2547 rs104895094 16:3293403-3293403 16:3243403-3243403

Expression for Syncope

Search GEO for disease gene expression data for Syncope.

Pathways for Syncope

Pathways related to Syncope according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
11.88 TTN TNNT2 RYR2
4 11.77 SCN5A RYR2 KCNQ1 KCNH2
5 11.36 TTN TNNT2 ACTN2
Show member pathways
11.09 SLC6A2 DBH
8 10.77 SLC6A2 DBH
Show member pathways
10.73 SLC6A2 DBH

GO Terms for Syncope

Cellular components related to Syncope according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 striated muscle thin filament GO:0005865 9.16 TTN TNNT2
2 sarcomere GO:0030017 9.13 TNNT2 RYR2 ACTN2
3 Z disc GO:0030018 8.92 TTN SCN5A RYR2 ACTN2

Biological processes related to Syncope according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.94 SCN5A RYR2 KCNQ1 KCNH2
2 transmembrane transport GO:0055085 9.88 SLC6A2 SCN5A RYR2 KCNQ1 KCNH2
3 regulation of ion transmembrane transport GO:0034765 9.8 SCN5A KCNQ1 KCNH2
4 muscle contraction GO:0006936 9.75 TTN TNNT2 ACTN2
5 regulation of heart contraction GO:0008016 9.64 TNNT2 KCNQ1
6 regulation of heart rate GO:0002027 9.63 SCN5A RYR2
7 cardiac conduction GO:0061337 9.63 SCN5A KCNQ1 KCNH2
8 response to pain GO:0048265 9.62 SLC6A2 DBH
9 response to muscle stretch GO:0035994 9.62 RYR2 NPPA
10 membrane depolarization during action potential GO:0086010 9.61 SCN5A KCNH2
11 potassium ion export across plasma membrane GO:0097623 9.61 KCNQ1 KCNH2
12 regulation of heart rate by cardiac conduction GO:0086091 9.61 SCN5A KCNQ1 KCNH2
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.6 KCNQ1 KCNH2
14 cellular response to epinephrine stimulus GO:0071872 9.59 RYR2 KCNQ1
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.58 KCNQ1 KCNH2
16 muscle filament sliding GO:0030049 9.58 TTN TNNT2 ACTN2
17 membrane repolarization GO:0086009 9.57 KCNQ1 KCNH2
18 regulation of membrane repolarization GO:0060306 9.56 KCNQ1 KCNH2
19 cardiac muscle hypertrophy GO:0003300 9.55 TTN RYR2
20 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.54 KCNQ1 KCNH2
21 sarcomere organization GO:0045214 9.54 TTN TNNT2 ACTN2
22 positive regulation of cardiac muscle contraction GO:0060452 9.52 NPPA KCNQ1
23 atrial cardiac muscle cell action potential GO:0086014 9.51 SCN5A KCNQ1
24 positive regulation of heart rate GO:0010460 9.5 RYR2 NPPA KCNQ1
25 membrane repolarization during action potential GO:0086011 9.49 KCNQ1 KCNH2
26 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 SCN5A KCNQ1 KCNH2
27 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.33 SCN5A NPPA KCNQ1
28 ventricular cardiac muscle cell action potential GO:0086005 9.26 SCN5A RYR2 KCNQ1 KCNH2
29 cardiac muscle contraction GO:0060048 9.1 TTN TNNT2 SCN5A RYR2 KCNQ1 KCNH2

Molecular functions related to Syncope according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.61 SCN5A KCNQ1 KCNH2
2 structural constituent of muscle GO:0008307 9.49 TTN ACTN2
3 delayed rectifier potassium channel activity GO:0005251 9.48 KCNQ1 KCNH2
4 protein kinase A regulatory subunit binding GO:0034237 9.46 RYR2 KCNQ1
5 calmodulin binding GO:0005516 9.46 TTN SCN5A RYR2 KCNQ1
6 scaffold protein binding GO:0097110 9.43 SCN5A KCNQ1 KCNH2
7 protein kinase A catalytic subunit binding GO:0034236 9.4 RYR2 KCNQ1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.37 KCNQ1 KCNH2
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.32 KCNQ1 KCNH2
10 ion channel activity GO:0005216 9.26 SCN5A RYR2 KCNQ1 KCNH2
11 ion channel binding GO:0044325 8.92 SCN5A RYR2 KCNQ1 ACTN2

Sources for Syncope

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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