MCID: SCK002
MIFTS: 53

Sick Sinus Syndrome

Categories: Cardiovascular diseases, Muscle diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sick Sinus Syndrome

MalaCards integrated aliases for Sick Sinus Syndrome:

Name: Sick Sinus Syndrome 12 25 37 29 55 6 44 15 73
Sinus Node Disease 25 29 6
Sinus Node Dysfunction 25 73
Sinus Node Infection 12
Sss 25
Snd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:13884
ICD10 33 I49.5
MeSH 44 D012804
NCIt 50 C62244
KEGG 37 H00729

Summaries for Sick Sinus Syndrome

Genetics Home Reference : 25 Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart.

MalaCards based summary : Sick Sinus Syndrome, also known as sinus node disease, is related to familial sick sinus syndrome and atrioventricular block. An important gene associated with Sick Sinus Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Adipogenesis. The drugs Amiodarone and Propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 76 Sick sinus syndrome (SSS), also called sinus dysfunction, or sinoatrial node disease (\"SND\"), is a... more...

Related Diseases for Sick Sinus Syndrome

Diseases in the Sick Sinus Syndrome family:

Sick Sinus Syndrome 2 Sick Sinus Syndrome 1
Sick Sinus Syndrome 3 Familial Sick Sinus Syndrome

Diseases related to Sick Sinus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 familial sick sinus syndrome 32.9 AGT HCN4 MYH6 SCN5A
2 atrioventricular block 30.8 HCN4 LMNA SCN5A
3 cardiac conduction defect 30.3 LMNA SCN5A
4 atrial standstill 1 30.3 LMNA MYH6 SCN5A
5 atrial fibrillation 29.8 AGT F2 HCN4 SCN5A
6 brugada syndrome 29.7 HCN4 RANGRF SCN5A SNTA1
7 sinoatrial node disease 29.2 HCN4 MYH6 SCN5A SHOX2
8 heart disease 29.1 F2 LMNA MYH6 SCN5A
9 left ventricular noncompaction 28.7 HCN4 LMNA MYH6 SCN5A SNTA1
10 hypertrophic cardiomyopathy 28.3 HCN4 LMNA MYH6 TGFB1
11 dilated cardiomyopathy 27.3 AGT LMNA MYH6 SCN5A TGFB1
12 sick sinus syndrome 1 12.5
13 sick sinus syndrome 3 12.5
14 sick sinus syndrome 2 12.5
15 isolated levocardia 11.4
16 chronic atrial and intestinal dysrhythmia 11.3
17 sinus node disease and myopia 11.1
18 cardiac arrhythmia, ankyrin-b-related 11.1
19 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 11.0
20 right bundle branch block 10.6 HCN4 SCN5A
21 long qt syndrome 12 10.6 SCN5A SNTA1
22 syncope 10.4
23 familial isolated dilated cardiomyopathy 10.4 MYH6 SCN5A
24 cardiomyopathy, dilated, 1e 10.3 LMNA SCN5A
25 long qt syndrome 9 10.3 HCN4 SCN5A SNTA1
26 prolapse of female genital organ 10.2 F2 LMNA
27 patent foramen ovale 10.2 F2 MYH6
28 amyloidosis 10.2
29 intrinsic cardiomyopathy 10.2 LMNA MYH6 SCN5A
30 long qt syndrome 10.2 HCN4 SCN5A SNTA1
31 cardiac arrhythmia 10.1 RANGRF SCN5A
32 lymphoma 10.1
33 long qt syndrome 2 10.0 SCN5A SNTA1
34 aging 10.0
35 atrial heart septal defect 10.0
36 lymphosarcoma 10.0
37 dextrocardia 10.0
38 arteries, anomalies of 9.9
39 myocardial infarction 9.9
40 coronary artery anomaly 9.9
41 pericarditis 9.9
42 hyperthyroidism 9.9
43 myotonic dystrophy 9.9
44 al amyloidosis 9.9
45 myotonia atrophica 9.9
46 polymyositis 9.9
47 levocardia 9.9
48 placental abruption 9.8 AGT F2
49 ischemic optic neuropathy 9.8 AGT F2
50 giant hemangioma 9.7 F2 TGFB1

Graphical network of the top 20 diseases related to Sick Sinus Syndrome:



Diseases related to Sick Sinus Syndrome

Symptoms & Phenotypes for Sick Sinus Syndrome

MGI Mouse Phenotypes related to Sick Sinus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 AGT F2 LMNA MYH6 SCN5A SGO1
2 cardiovascular system MP:0005385 9.97 TGFB1 AGT F2 HCN4 LMNA MYH6
3 homeostasis/metabolism MP:0005376 9.86 MYH6 SGO1 SHOX2 SNTA1 TGFB1 AGT
4 mortality/aging MP:0010768 9.81 AGT F2 HCN4 LMNA MYH6 SCN5A
5 digestive/alimentary MP:0005381 9.72 F2 LMNA SGO1 SHOX2 TGFB1
6 muscle MP:0005369 9.5 AGT HCN4 LMNA MYH6 SCN5A SNTA1
7 nervous system MP:0003631 9.23 AGT F2 HCN4 LMNA SCN5A SHOX2

Drugs & Therapeutics for Sick Sinus Syndrome

Drugs for Sick Sinus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
2
Propafenone Approved Phase 4 54063-53-5 4932
3
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
4
Ethanol Approved Phase 4 64-17-5 702
5 Adrenergic Agents Phase 4
6 Adrenergic Antagonists Phase 4
7 Adrenergic beta-Antagonists Phase 4
8 Anti-Arrhythmia Agents Phase 4,Not Applicable
9 Autonomic Agents Phase 4
10 Cytochrome P-450 CYP1A2 Inhibitors Phase 4,Phase 3
11 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
12 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
13 Cytochrome P-450 CYP3A Inhibitors Phase 4
14 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
15 Diuretics, Potassium Sparing Phase 4
16 Neurotransmitter Agents Phase 4
17 Peripheral Nervous System Agents Phase 4
18 Potassium Channel Blockers Phase 4
19 Sodium Channel Blockers Phase 4
20 Sympatholytics Phase 4
21 Vasodilator Agents Phase 4
22
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 439542 10909430
23
Cephalexin Approved, Investigational, Vet_approved Phase 3 15686-71-2 27447
24
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
25
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
26
Ofloxacin Approved Phase 3 82419-36-1 4583
27 Anti-Bacterial Agents Phase 3
28 Antibiotics, Antitubercular Phase 3
29 Anti-Infective Agents Phase 3
30 Anti-Infective Agents, Local Phase 3
31 Antitubercular Agents Phase 3
32 Clindamycin palmitate Phase 3
33 Clindamycin phosphate Phase 3
34 Polymyxin B Phase 3
35 Polymyxins Phase 3
36 Renal Agents Phase 3
37 Topoisomerase Inhibitors Phase 3
38
Angiotensin II Approved, Investigational ,Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
39
Losartan Approved Not Applicable 114798-26-4 3961
40
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
41
Menthol Approved 2216-51-5 16666
42 tannic acid Approved, Nutraceutical Not Applicable
43 Angiotensinogen ,Not Applicable
44 Angiotensin II Type 1 Receptor Blockers Not Applicable
45 Angiotensin Receptor Antagonists Not Applicable
46 Antihypertensive Agents Not Applicable
47 Natriuretic Peptide, Brain Not Applicable

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Mode Evaluation in Sick Sinus Syndrome Trial (MODEST) Unknown status NCT00161551 Phase 4
2 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
3 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
4 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4 Amiodarone;Propafenone;Sotalol
5 The Impact of Heart Rate on Central Blood Pressure in Sick Sinus Syndrome Patients With a Permanent Cardiac Pacemaker Completed NCT03245996 Phase 4 Atenolol Pill;Nebivolol Pill;Ivabradine Pill
6 Pacing of the Atria in Sick Sinus Syndrome Trial Preventive Strategies for Atrial Fibrillation Completed NCT00161538 Phase 4
7 Austria Study - Analysis of Difference Between Active and Passive Fixation Leads Completed NCT00180557 Phase 4
8 Prevention of Atrial Arrhythmia in Patients Without Atrioventricular (AV) Conduction Disease Completed NCT01170611 Phase 4
9 Falls and Cardiovascular Events in Pacemaker Patients Completed NCT01037426 Phase 4
10 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
11 Beta-blockers to Patients With Chronic Obstructive Pulmonary Disease Recruiting NCT03566667 Phase 4 Metoprolol;Standard care
12 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
13 Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
14 Increasing Atrial Base Rate Pacing to Reduce Atrial Fibrillation Completed NCT02317068 Phase 3
15 Mode Selection Trial in Sinus Node Dysfunction (MOST) Completed NCT00000561 Phase 3
16 Perioperative Antibiotic Therapy to Prevent Cardiac Implantable Electronic Device Infections. Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
17 The Danish Multicenter Randomised Study on AAI Versus DDD Pacing in Sick Sinus Syndrome Terminated NCT00236158 Phase 2, Phase 3
18 Second Study on Cardio-neuromodulation in Humans Recruiting NCT02954666 Phase 2
19 RV Septal Versus Minimized RV Pacing in Sick Sinus Syndrome Unknown status NCT01477138
20 The Role of Angiotensinogen Gene Polymorphism in the Pathogenesis of Non-familial Sick Sinus Syndrome Unknown status NCT01310920
21 The Effect of Losartan on Atrial Fibrillation (AF) Burden and Pacemaker Dependence in Patients With Sick Sinus Syndrome Unknown status NCT00647257 Not Applicable Losartan;Placebo
22 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable
23 Imaging Cardiac Electrical Remodeling With Electrocardiogram Imaging (ECGI) Unknown status NCT00785564
24 Identification of Gene Polymorphism in Patients With Sick Sinus Syndrome in Chinese Population in Taiwan Unknown status NCT00314223
25 Right Ventricular Lead Placement in a Pacemaker Population: Evaluation of Apical and Alternative Position Unknown status NCT01647490 Not Applicable
26 Impact of Septal Vs Apical Pacing on Right and Left Ventricular Performance Unknown status NCT01798043 Not Applicable
27 Minimizing Ventricular Pacing Unknown status NCT01611389 Not Applicable
28 Ventricular Pace Suppression Versus Intrinsic Rhythm Support Study Completed NCT01528657 Not Applicable
29 Right Ventricle (RV) Markers of Future Pacing Induced Ventricular Dysfunction - Pilot Completed NCT02198781
30 Beluga - Clinical Observations of Automatic Algorithms for Cardiac Pacing Completed NCT00286858
31 The Atrial High Rate Episodes in Pacemaker Patients Completed NCT00627328
32 Prospective Registry of Pacemaker Patients Concerning Percentage of Right Ventricular Pacing, LVEF and NYHA Class Completed NCT00292539
33 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738
34 SAVEPACe - Search AV Extension and Managed Ventricular Pacing for Promoting Atrio-Ventricular Conduction Completed NCT00284830 Not Applicable
35 Medtronic Genetic Arrhythmia Markers for Early Detection (GAME Study) Completed NCT00664807
36 To Pace or Not to Pace in Sinus Node Disease Completed NCT02485093 Not Applicable
37 DISCOVERY: Diagnostic Data and Genetic Polymorphisms in ICD Patients. Completed NCT00478933 Not Applicable
38 A Comparison of Rate Response Performance in Pacemaker Patients With an Indication of Sinus Node Dysfunction Completed NCT02027909
39 Evaluation of Pacemaker Algorithms to Avoid Unnecessary Right Ventricular Pacing Completed NCT01803217 Not Applicable
40 Right Ventricular Outflow Tract Study Completed NCT01294839 Not Applicable
41 Diagnostic Yield of an Ambulatory Patch Monitor in Unexplained Emergency Department Syncope: A Pilot Study (PATCH-ED) Completed NCT02683174 Not Applicable
42 Evolution of the PR Interval in Patients Implanted With a Pacemaker Using the SafeR Mode Completed NCT02586480
43 Ingenio Device Algorithm Study Completed NCT01441583 Not Applicable
44 IES-ACap: Influence of Atrial Pulse Width in the Behaviour of ACap™ Confirm Algorithm. Completed NCT00832260
45 PANORAMA Observational Study Completed NCT00382525
46 Real Life Automatic Atrial Capture Device Control Completed NCT02400983
47 Reducing Atrial Pacing Rate to Reduce Atrial Fibrillation in Patients With Sick Sinus Syndrome. Recruiting NCT02034526 Not Applicable
48 Left Ventricular Pacing to Prevent Iatrogenic TR Pilot Study Recruiting NCT02314897 Not Applicable
49 Left Ventricular Pacing to Avoid Cardiac Enlargement Study Recruiting NCT01302717 Not Applicable
50 Registry to Improve the Adoption of Consensus Treatment Guidelines (IMPROVE Brady) Recruiting NCT01643707

Search NIH Clinical Center for Sick Sinus Syndrome

Cochrane evidence based reviews: sick sinus syndrome

Genetic Tests for Sick Sinus Syndrome

Genetic tests related to Sick Sinus Syndrome:

# Genetic test Affiliating Genes
1 Sinus Node Disease 29
2 Sick Sinus Syndrome 29

Anatomical Context for Sick Sinus Syndrome

MalaCards organs/tissues related to Sick Sinus Syndrome:

41
Heart, Testes, Brain, Atrioventricular Node, B Cells, Lung, Spleen

Publications for Sick Sinus Syndrome

Articles related to Sick Sinus Syndrome:

(show top 50) (show all 561)
# Title Authors Year
1
TRPM7 regulates angiotensin II-induced sinoatrial node fibrosis in sick sinus syndrome rats by mediating Smad signaling. ( 29511803 )
2018
2
Elevated Intracranial Pressure as a Cause of Sick Sinus Syndrome. ( 29967700 )
2018
3
MECP2 mutation in a boy with severe apnea and sick sinus syndrome. ( 29631775 )
2018
4
Genetic analysis of sick sinus syndrome in a family harboring compound CACNA1C and TTN mutations. ( 29568937 )
2018
5
Sick Sinus Syndrome. ( 29784479 )
2018
6
Heart rate reduction decreases central blood pressure in sick sinus syndrome patients with a permanent cardiac pacemaker. ( 29581554 )
2018
7
Isolated Persistent Left Superior Vena Cava, Sick Sinus Syndrome, and Challenging Pacemaker Implantation. ( 28912977 )
2017
8
A Functional Assay for Sick Sinus Syndrome Genetic Variants. ( 28803248 )
2017
9
Long term effects of cilostazol in a dog with sick sinus syndrome. ( 28458273 )
2017
10
Short-term heart rate variability in dogs with sick sinus syndrome or chronic mitral valve disease as compared to healthy controls. ( 28525326 )
2017
11
Persistent Sick Sinus Syndrome in Scrub Typhus. ( 28500798 )
2017
12
Value of Combining Left Atrial Diameter and Amino-terminal Pro-brain Natriuretic Peptide to the CHA2DS2-VASc Score for Predicting Stroke and Death in Patients with Sick Sinus Syndrome after Pacemaker Implantation. ( 28776540 )
2017
13
Transient sick sinus syndrome with complete atrioventricular block associated with ergonovine intake: A case report. ( 29095320 )
2017
14
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. ( 28104484 )
2017
15
Hyperthyroidism and sick sinus syndrome, a rare but challenging association: A study of three cases. ( 28891553 )
2017
16
Seizure Triggered by Sick Sinus Syndrome. ( 29103011 )
2017
17
Transient Notch Activation Induces Long-Term Gene Expression Changes Leading to Sick Sinus Syndrome in Mice. ( 28674041 )
2017
18
Eleven-year trends of inpatient pacemaker implantation in patients diagnosed with sick sinus syndrome. ( 28471545 )
2017
19
An unexpected presentation of sick sinus syndrome: Isolated ventricular asystole. ( 28460803 )
2017
20
Sick sinus syndrome. ( 28644224 )
2017
21
Congenital sick sinus syndrome: Prenatal diagnosis and postnatal follow-up. ( 28805625 )
2017
22
Clinical phenotype of HCN4-related sick sinus syndrome. ( 28213054 )
2017
23
Tying Ourselves in Knots to Avoid Ventricular Pacing in Sick Sinus Syndrome: Does it Matter? ( 29759605 )
2017
24
The proportion of asymptomatic recurrence after catheter ablation of atrial fibrillation in patients with a pacemaker for sick sinus syndrome. ( 29192587 )
2017
25
Implantation of VVI pacemaker in a patient with dextrocardia, persistent left superior vena cava, and sick sinus syndrome: A case report. ( 28151908 )
2017
26
Complex regional pain syndrome induced by pacemaker implantation for sick sinus syndrome. ( 29255517 )
2017
27
Rhythm, Sick Sinus Syndrome ( 29261930 )
2017
28
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death. ( 27182706 )
2016
29
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. ( 26798387 )
2016
30
Transforming Growth Factor-I^1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level. ( 27380173 )
2016
31
Autosomal recessive atrial disease presenting with sick sinus syndrome (SSS), right atrial fibrosis and biatrial dilatation: Clinical impact of genetic diagnosis. ( 26828384 )
2016
32
G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block. ( 26831068 )
2016
33
Single lead atrial vs. dual chamber pacing in sick sinus syndrome: extended register-based follow-up in the DANPACE trial. ( 28039212 )
2016
34
SEVERE AMIODARONE-INDUCED BRADICARDIA CONCEALES SICK SINUS SYNDROME: CASE REPORT. ( 27125081 )
2016
35
Outcome and survival in canine sick sinus syndrome and sinus node dysfunction: 93 cases (2002-2014). ( 27286907 )
2016
36
Red blood cell distribution width and atrial fibrillation in patients with sick sinus syndrome. ( 26321105 )
2015
37
Dual-chamber pacemakers for treating symptomatic bradycardia due to sick sinus syndrome without atrioventricular block: a systematic review and economic evaluation. ( 26293406 )
2015
38
Predictors of sick sinus syndrome in patients after successful radiofrequency catheter ablation of atrial flutter. ( 25510744 )
2015
39
Stored intracardiac electrograms reveal patients with sick sinus syndrome frequently develop atrioventricular block. ( 25947003 )
2015
40
Novel Mutation in the I+-Myosin Heavy Chain Gene Is Associated With Sick Sinus Syndrome. ( 25717017 )
2015
41
Anaplastic lymphoma kinase-positive lung adenocarcinoma patient with development of sick sinus syndrome while on targeted treatment with crizotinib. ( 25922742 )
2015
42
Sodium Hydroxide Pinpoint Pressing Permeation Method for the Animal Modeling of Sick Sinus Syndrome. ( 26118592 )
2015
43
Role of temporary pacing at the right ventricular outflow tract in anesthetic management of a patient with asymptomatic sick sinus syndrome. ( 26712989 )
2015
44
Sick Sinus Syndrome. ( 26485000 )
2015
45
ECG of the Month. Third-degree AV block with sick sinus syndrome. ( 25835165 )
2015
46
Development of Atrioventricular Block and Diagnostic Value of Stored Electrograms in Patients With Sick Sinus Syndrome and Implanted Pacemaker. ( 25753690 )
2015
47
Sick sinus syndrome and atrial fibrillation in older persons - A view from the sinoatrial nodal myocyte. ( 25668431 )
2015
48
Elevated plasma norepinephrine level and sick sinus syndrome in patients with lone atrial fibrillation. ( 25968056 )
2015
49
Combined Algorithm Using a Poor Increase in Inferior P-Wave Amplitude During Sympathetic Stimulation and Sinus Node Recovery Time for the Diagnosis of Sick Sinus Syndrome. ( 26289967 )
2015
50
Beware of Venous Anomalies in Young Patients with Sick Sinus Syndrome: A Report of Two Cases of Sick Sinus Syndrome with Systemic Venous Anomalies. ( 27326354 )
2015

Variations for Sick Sinus Syndrome

ClinVar genetic disease variations for Sick Sinus Syndrome:

6
(show top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
2 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
3 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
4 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
5 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh37 Chromosome 3, 38603976: 38603976
6 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh38 Chromosome 3, 38562485: 38562485
7 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh37 Chromosome 3, 38645524: 38645524
8 SCN5A NM_198056.2(SCN5A): c.1569T> A (p.Arg523=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313693 GRCh38 Chromosome 3, 38604033: 38604033
9 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh37 Chromosome 3, 38591860: 38591860
10 SCN5A NM_198056.2(SCN5A): c.6003C> T (p.Leu2001=) single nucleotide variant Conflicting interpretations of pathogenicity rs538707712 GRCh38 Chromosome 3, 38550369: 38550369
11 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh37 Chromosome 3, 38593039: 38593039
12 SCN5A NM_198056.2(SCN5A): c.4824C> T (p.Leu1608=) single nucleotide variant Conflicting interpretations of pathogenicity rs45437099 GRCh38 Chromosome 3, 38551548: 38551548
13 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh37 Chromosome 3, 38648232: 38648232
14 SCN5A NM_198056.2(SCN5A): c.1068T> C (p.Asp356=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313703 GRCh38 Chromosome 3, 38606741: 38606741
15 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh37 Chromosome 3, 38645495: 38645495
16 SCN5A NM_001099404.1(SCN5A): c.1598G> A (p.Arg533His) single nucleotide variant Uncertain significance rs146848219 GRCh38 Chromosome 3, 38604004: 38604004
17 SNTA1 NM_003098.2(SNTA1): c.388T> C (p.Phe130Leu) single nucleotide variant Uncertain significance rs199964677 GRCh37 Chromosome 20, 32026755: 32026755
18 SNTA1 NM_003098.2(SNTA1): c.388T> C (p.Phe130Leu) single nucleotide variant Uncertain significance rs199964677 GRCh38 Chromosome 20, 33438949: 33438949
19 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 GRCh37 Chromosome 15, 73614933: 73614936
20 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 GRCh38 Chromosome 15, 73322592: 73322595
21 HCN4 NM_005477.2(HCN4): c.3498_3501delTTTG (p.Phe1168Glyfs) deletion Uncertain significance rs786205259 NCBI36 Chromosome 15, 71401986: 71401989
22 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh37 Chromosome 3, 38601774: 38601774
23 SCN5A NM_198056.2(SCN5A): c.4109A> G (p.Asp1370Gly) single nucleotide variant Uncertain significance rs775485359 GRCh38 Chromosome 3, 38560283: 38560283
24 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh37 Chromosome 3, 38622694: 38622694
25 SCN5A NM_198056.2(SCN5A): c.2956C> T (p.Arg986Trp) single nucleotide variant Uncertain significance rs561547165 GRCh38 Chromosome 3, 38581203: 38581203
26 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh37 Chromosome 3, 38651372: 38651372
27 SCN5A NM_198056.2(SCN5A): c.787G> A (p.Val263Ile) single nucleotide variant Uncertain significance rs752824646 GRCh38 Chromosome 3, 38609881: 38609881
28 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh37 Chromosome 3, 38598754: 38598754
29 SCN5A NM_001099404.1(SCN5A): c.4267G> A (p.Asp1423Asn) single nucleotide variant Uncertain significance rs746291609 GRCh38 Chromosome 3, 38557263: 38557263
30 SCN5A NM_001099404.1(SCN5A): c.1252G> T (p.Glu418Ter) single nucleotide variant Likely pathogenic rs869025519 GRCh38 Chromosome 3, 38606037: 38606037
31 SCN5A NM_001099404.1(SCN5A): c.1252G> T (p.Glu418Ter) single nucleotide variant Likely pathogenic rs869025519 GRCh37 Chromosome 3, 38647528: 38647528
32 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh38 Chromosome 3, 38550765: 38550765
33 SCN5A NM_198056.2(SCN5A): c.5607C> T (p.Asp1869=) single nucleotide variant Conflicting interpretations of pathogenicity rs560476223 GRCh37 Chromosome 3, 38592256: 38592256
34 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh38 Chromosome 3, 38550918: 38550918
35 SCN5A NM_198056.2(SCN5A): c.5454C> T (p.Ala1818=) single nucleotide variant Conflicting interpretations of pathogenicity rs370114378 GRCh37 Chromosome 3, 38592409: 38592409
36 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh37 Chromosome 3, 38616912: 38616912
37 SCN5A NM_198056.2(SCN5A): c.3542T> C (p.Val1181Ala) single nucleotide variant Uncertain significance rs376965389 GRCh38 Chromosome 3, 38575421: 38575421
38 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh38 Chromosome 3, 38548175: 38548176
39 SCN5A NM_198056.2(SCN5A) insertion Likely benign rs45592631 GRCh37 Chromosome 3, 38589666: 38589667
40 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh38 Chromosome 3, 38548620: 38548620
41 SCN5A NM_198056.2(SCN5A): c.*1701G> T single nucleotide variant Uncertain significance rs886058441 GRCh37 Chromosome 3, 38590111: 38590111
42 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh38 Chromosome 3, 38548719: 38548719
43 SCN5A NM_198056.2(SCN5A): c.*1602G> T single nucleotide variant Uncertain significance rs886058444 GRCh37 Chromosome 3, 38590210: 38590210
44 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh38 Chromosome 3, 38548784: 38548784
45 SCN5A NM_198056.2(SCN5A): c.*1537T> C single nucleotide variant Likely benign rs41315485 GRCh37 Chromosome 3, 38590275: 38590275
46 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh38 Chromosome 3, 38549156: 38549156
47 SCN5A NM_198056.2(SCN5A): c.*1165C> T single nucleotide variant Likely benign rs41313017 GRCh37 Chromosome 3, 38590647: 38590647
48 SCN5A NM_198056.2(SCN5A): c.*1164G> T single nucleotide variant Uncertain significance rs41315489 GRCh38 Chromosome 3, 38549157: 38549157
49 SCN5A NM_198056.2(SCN5A): c.*1164G> T single nucleotide variant Uncertain significance rs41315489 GRCh37 Chromosome 3, 38590648: 38590648
50 SCN5A NM_198056.2(SCN5A): c.*980C> A single nucleotide variant Uncertain significance rs886058449 GRCh38 Chromosome 3, 38549341: 38549341

Expression for Sick Sinus Syndrome

Search GEO for disease gene expression data for Sick Sinus Syndrome.

Pathways for Sick Sinus Syndrome

Pathways related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 LMNA MYH6 TGFB1
2 11.45 AGT LMNA TGFB1
3 10.88 HCN4 LMNA SCN5A
4 10.52 MYH6 SCN5A TGFB1

GO Terms for Sick Sinus Syndrome

Cellular components related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.96 RANGRF SCN5A
2 blood microparticle GO:0072562 8.8 AGT F2 TGFB1

Biological processes related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 HCN4 MYH6 SNTA1
2 cardiac muscle contraction GO:0060048 9.59 MYH6 SCN5A
3 chondrocyte differentiation GO:0002062 9.58 SHOX2 TGFB1
4 regulation of heart rate by cardiac conduction GO:0086091 9.58 HCN4 SCN5A
5 positive regulation of reactive oxygen species metabolic process GO:2000379 9.57 AGT F2
6 positive regulation of collagen biosynthetic process GO:0032967 9.56 F2 TGFB1
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 MYH6 TGFB1
8 positive regulation of protein localization to nucleus GO:1900182 9.54 F2 TGFB1
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.52 AGT TGFB1
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.51 SCN5A SNTA1
11 positive regulation of cellular protein metabolic process GO:0032270 9.49 AGT TGFB1
12 positive regulation of superoxide anion generation GO:0032930 9.48 AGT TGFB1
13 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A SNTA1
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.4 HCN4 SCN5A
15 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.37 HCN4 RANGRF
16 regulation of membrane depolarization GO:0003254 9.32 HCN4 RANGRF
17 SA node cell action potential GO:0086015 9.26 HCN4 SCN5A
18 membrane depolarization during SA node cell action potential GO:0086046 9.16 HCN4 SCN5A
19 regulation of sodium ion transmembrane transport GO:1902305 9.13 RANGRF SCN5A SNTA1
20 regulation of heart rate GO:0002027 9.1 AGT HCN4 MYH6 RANGRF SCN5A SNTA1

Molecular functions related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.5 MYH6 SCN5A SNTA1
2 sodium channel regulator activity GO:0017080 9.4 RANGRF SNTA1
3 sodium channel activity GO:0005272 9.37 HCN4 SCN5A
4 growth factor activity GO:0008083 9.33 AGT F2 TGFB1
5 voltage-gated sodium channel activity GO:0005248 9.26 HCN4 SCN5A
6 nitric-oxide synthase binding GO:0050998 8.96 SCN5A SNTA1
7 ion channel binding GO:0044325 8.8 RANGRF SCN5A SNTA1

Sources for Sick Sinus Syndrome

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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