SSS2
MCID: SCK014
MIFTS: 27

Sick Sinus Syndrome 2 (SSS2) malady

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

Aliases & Classifications for Sick Sinus Syndrome 2

Aliases & Descriptions for Sick Sinus Syndrome 2:

Name: Sick Sinus Syndrome 2 54 66 13
Sick Sinus Syndrome 2, Autosomal Dominant 24 69
Autosomal Dominant Sick Sinus Syndrome 2 66 29
Sick Sinus Syndrome 2 with or Without Cardiac Noncompaction and/or Ascending Aorta Dilation 66
Sinus Bradycardia Syndrome, Familial, Autosomal Dominant 66
Familial Sinus Bradycardia Syndrome Autosomal Dominant 66
Sinus Node Disease, Familial, Autosomal Dominant 66
Sinus Bradycardia Syndrome, Autosomal Dominant 24
Atrial Fibrillation with Bradyarrhythmia 66
Sss Autosomal Dominant 66
Sss2 66

Characteristics:

HPO:

32
sick sinus syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 163800
MedGen 40 C1834144

Summaries for Sick Sinus Syndrome 2

UniProtKB/Swiss-Prot : 66 Sick sinus syndrome 2: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth.

MalaCards based summary : Sick Sinus Syndrome 2, also known as sick sinus syndrome 2, autosomal dominant, is related to sick sinus syndrome 1, and has symptoms including atrial fibrillation, sinus bradycardia and sick sinus syndrome. An important gene associated with Sick Sinus Syndrome 2 is HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4). The drugs Amiodarone and Propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart.

Description from OMIM: 163800

Related Diseases for Sick Sinus Syndrome 2

Diseases in the Sick Sinus Syndrome family:

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

Diseases related to Sick Sinus Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 1 10.8

Symptoms & Phenotypes for Sick Sinus Syndrome 2

Symptoms by clinical synopsis from OMIM:

163800

Clinical features from OMIM:

163800

Human phenotypes related to Sick Sinus Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 atrial fibrillation 32 HP:0005110
2 sinus bradycardia 32 HP:0001688
3 sick sinus syndrome 32 HP:0011704

Drugs & Therapeutics for Sick Sinus Syndrome 2

Drugs for Sick Sinus Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
id 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 Adrenergic Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Sodium Channel Blockers Phase 4
7 Neurotransmitter Agents Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Sympatholytics 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 Peripheral Nervous System Agents Phase 4
17 Vasodilator Agents Phase 4
18 Anti-Arrhythmia Agents Phase 4
19 Potassium Channel Blockers Phase 4
20 Autonomic Agents Phase 4
21
Cephalexin Approved, Vet_approved Phase 3 15686-71-2 27447
22
Ofloxacin Approved Phase 3 82419-36-1 4583
23
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
24
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
25
Bacitracin Approved, Vet_approved Phase 3 1405-87-4 439542 10909430
26 Pharmaceutical Solutions Phase 2, Phase 3
27 Immunoglobulins Phase 2, Phase 3
28 gamma-Globulins Phase 2, Phase 3
29 Immunoglobulins, Intravenous Phase 2, Phase 3
30 Rho(D) Immune Globulin Phase 2, Phase 3
31 Antibodies Phase 2, Phase 3
32 Polymyxin B Phase 3
33 Clindamycin palmitate Phase 3
34 Clindamycin phosphate Phase 3
35 Topoisomerase Inhibitors Phase 3
36 Anti-Bacterial Agents Phase 3
37 Polymyxins Phase 3
38 Anti-Infective Agents Phase 3
39 Anti-Infective Agents, Local Phase 3
40 Renal Agents Phase 3
41 Antibiotics, Antitubercular Phase 3
42 Antitubercular Agents Phase 3
43
Menthol Approved Phase 2 2216-51-5 16666
44 Muramidase Phase 2
45 Lactoferrin Phase 2

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
2 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4
3 Austria Study - Analysis of Difference Between Active and Passive Fixation Leads Completed NCT00180557 Phase 4
4 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
5 PANORAMA Observational Study Completed NCT00382525 Phase 4
6 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
7 Use of Amiodarone in Atrial Fibrillation Associated With Severe Sepsis or Septic Shock Enrolling by invitation NCT02668432 Phase 4
8 Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
9 Phase 2/3 Study of IGSC, 20% in PIDD Completed NCT01218438 Phase 2, Phase 3
10 Perioperative Antibiotic Therapy to Prevent Cardiac Implantable Electronic Device Infections. Recruiting NCT02809131 Phase 3
11 The Danish Multicenter Randomised Study on AAI Versus DDD Pacing in Sick Sinus Syndrome Terminated NCT00236158 Phase 2, Phase 3
12 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
13 Second Study on Cardio-neuromodulation in Humans Recruiting NCT02954666 Phase 2
14 Gulf War Illness Nasal Irrigation Study Active, not recruiting NCT01700725 Phase 2
15 RV Septal Versus Minimized RV Pacing in Sick Sinus Syndrome Unknown status NCT01477138
16 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241
17 Left Ventricular Pacing to Prevent Iatrogenic TR Pilot Study Unknown status NCT02314897
18 A Comparison of Rate Response Performance in Pacemaker Patients With an Indication of Sinus Node Dysfunction Unknown status NCT02027909
19 Minimizing Ventricular Pacing Unknown status NCT01611389
20 The Atrial High Rate Episodes in Pacemaker Patients Completed NCT00627328
21 SAVEPACe - Search AV Extension and Managed Ventricular Pacing for Promoting Atrio-Ventricular Conduction Completed NCT00284830
22 Natural Evolution of AV Conduction Disorders in Patients Implanted With Cardiac Pacemakers Completed NCT00531037
23 Ingenio Device Algorithm Study Completed NCT01441583
24 Left Ventricular Pacing to Avoid Cardiac Enlargement Study Recruiting NCT01302717
25 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
26 Prospective Identification of Long QT Syndrome in Fetal Life Recruiting NCT02876380
27 Impact of Septal Vs Apical Pacing on Right and Left Ventricular Performance Active, not recruiting NCT01798043
28 Safety and Performance Study of the INGEVITY Lead Active, not recruiting NCT01688843
29 Evolution of the PR Interval in Patients Implanted With a Pacemaker Using the SafeR Mode Active, not recruiting NCT02586480
30 Af Ablation In Brady-Tachy Syndrome Terminated NCT00740272

Search NIH Clinical Center for Sick Sinus Syndrome 2

Genetic Tests for Sick Sinus Syndrome 2

Genetic tests related to Sick Sinus Syndrome 2:

id Genetic test Affiliating Genes
1 Sick Sinus Syndrome 2, Autosomal Dominant 29 24 HCN4

Anatomical Context for Sick Sinus Syndrome 2

MalaCards organs/tissues related to Sick Sinus Syndrome 2:

39
Heart

Publications for Sick Sinus Syndrome 2

Variations for Sick Sinus Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Sick Sinus Syndrome 2:

66
id Symbol AA change Variation ID SNP ID
1 HCN4 p.Asp553Asn VAR_026534 rs104894485
2 HCN4 p.Ser672Arg VAR_026535 rs104894488
3 HCN4 p.Ala485Val VAR_066614

ClinVar genetic disease variations for Sick Sinus Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.2016C> A (p.Ser672Arg) single nucleotide variant Pathogenic rs104894488 GRCh37 Chromosome 15, 73616557: 73616557
2 HCN4 NM_005477.2(HCN4): c.1631delC (p.Pro544Argfs) deletion Pathogenic rs1057519015 GRCh38 Chromosome 15, 73325404: 73325404
3 HCN4 NM_005477.2(HCN4): c.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs104894485 GRCh37 Chromosome 15, 73617719: 73617719
4 HCN4 NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg) single nucleotide variant Pathogenic rs121908411 GRCh37 Chromosome 15, 73622066: 73622066
5 HCN4 NM_005477.2(HCN4): c.1444G> A (p.Gly482Arg) single nucleotide variant Likely pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
6 HCN4 NM_005477.2(HCN4): c.1920_1932dupCAGCGTGCTCACC (p.Lys645Glnfs) duplication Pathogenic rs1057519274 GRCh38 Chromosome 15, 73325001: 73325013
7 HCN4 NM_005477.2(HCN4): c.1444G> C (p.Gly482Arg) single nucleotide variant Pathogenic rs794727637 GRCh38 Chromosome 15, 73329719: 73329719
8 HCN4 NM_005477.2(HCN4): c.1441T> C (p.Tyr481His) single nucleotide variant Pathogenic rs1057519275 GRCh37 Chromosome 15, 73622063: 73622063
9 HCN4 NM_005477.2(HCN4): c.1241C> G (p.Ala414Gly) single nucleotide variant Pathogenic rs1057519276 GRCh37 Chromosome 15, 73624602: 73624602

Expression for Sick Sinus Syndrome 2

Search GEO for disease gene expression data for Sick Sinus Syndrome 2.

Pathways for Sick Sinus Syndrome 2

GO Terms for Sick Sinus Syndrome 2

Sources for Sick Sinus Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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