SSS2
MCID: SCK014
MIFTS: 25

Sick Sinus Syndrome 2 (SSS2)

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

Aliases & Classifications for Sick Sinus Syndrome 2

MalaCards integrated aliases for Sick Sinus Syndrome 2:

Name: Sick Sinus Syndrome 2 58 76 13
Sick Sinus Syndrome 2, Autosomal Dominant 30 6 74
Sick Sinus Syndrome 2 with or Without Cardiac Noncompaction and/or Ascending Aorta Dilation 58 76
Sinus Bradycardia Syndrome, Familial, Autosomal Dominant 58 76
Sinus Node Disease, Familial, Autosomal Dominant 58 76
Atrial Fibrillation with Bradyarrhythmia 58 76
Sss2 58 76
Familial Sinus Bradycardia Syndrome Autosomal Dominant 76
Sinus, Sick, Syndrome, Type 2, Autosomal Dominant 41
Autosomal Dominant Sick Sinus Syndrome 2 76
Sss Autosomal Dominant 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or at birth


HPO:

33
sick sinus syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Sick Sinus Syndrome 2

UniProtKB/Swiss-Prot : 76 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 atrial fibrillation. An important gene associated with Sick Sinus Syndrome 2 is HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4). Affiliated tissues include heart, and related phenotypes are mitral valve prolapse and left ventricular hypertrophy

Description from OMIM: 163800

Related Diseases for Sick Sinus Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial fibrillation 10.1

Symptoms & Phenotypes for Sick Sinus Syndrome 2

Human phenotypes related to Sick Sinus Syndrome 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 33 occasional (7.5%) HP:0001634
2 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
3 cardiac arrest 33 occasional (7.5%) HP:0001695
4 aortic regurgitation 33 occasional (7.5%) HP:0001659
5 ventricular fibrillation 33 occasional (7.5%) HP:0001663
6 left ventricular noncompaction 33 occasional (7.5%) HP:0030682
7 atrial fibrillation 33 HP:0005110
8 sinus bradycardia 33 HP:0001688
9 sick sinus syndrome 33 HP:0011704

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sinus bradycardia
left ventricular hypertrophy (in some patients)
atrial fibrillation (in some patients)
ventricular fibrillation (in some patients)
cardiac arrest (rare)
more
Cardiovascular Vascular:
dilation of ascending aorta (in some patients)

Clinical features from OMIM:

163800

Drugs & Therapeutics for Sick Sinus Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Iota-Carrageenan Nasal Spray in Common Cold Completed NCT01944631 Phase 4

Search NIH Clinical Center for Sick Sinus Syndrome 2

Genetic Tests for Sick Sinus Syndrome 2

Genetic tests related to Sick Sinus Syndrome 2:

# Genetic test Affiliating Genes
1 Sick Sinus Syndrome 2, Autosomal Dominant 30 HCN4

Anatomical Context for Sick Sinus Syndrome 2

MalaCards organs/tissues related to Sick Sinus Syndrome 2:

42
Heart

Publications for Sick Sinus Syndrome 2

Articles related to Sick Sinus Syndrome 2:

# Title Authors Year
1
Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. ( 27173043 )
2016
2
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. ( 25145517 )
2014
3
The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel. ( 25145518 )
2014
4
cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control. ( 20693575 )
2010
5
Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. ( 17646576 )
2007
6
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. ( 16407510 )
2006
7
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. ( 15123648 )
2004
8
Pacemaker channel dysfunction in a patient with sinus node disease. ( 12750403 )
2003
9
Familial idiopathic atrial fibrillation with bradyarrhythmia. ( 8750801 )
1996

Variations for Sick Sinus Syndrome 2

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

76
# 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 rs145474870

ClinVar genetic disease variations for Sick Sinus Syndrome 2:

6 (show all 26)
# 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.2016C> A (p.Ser672Arg) single nucleotide variant Pathogenic rs104894488 GRCh38 Chromosome 15, 73324216: 73324216
3 HCN4 NM_005477.2(HCN4): c.1631delC (p.Pro544Argfs) deletion Pathogenic rs1057519015 GRCh38 Chromosome 15, 73325404: 73325404
4 HCN4 NM_005477.2(HCN4): c.1631delC (p.Pro544Argfs) deletion Pathogenic rs1057519015 GRCh37 Chromosome 15, 73617745: 73617745
5 HCN4 NM_005477.2(HCN4): c.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs104894485 GRCh37 Chromosome 15, 73617719: 73617719
6 HCN4 NM_005477.2(HCN4): c.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs104894485 GRCh38 Chromosome 15, 73325378: 73325378
7 HCN4 NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg) single nucleotide variant Pathogenic rs121908411 GRCh37 Chromosome 15, 73622066: 73622066
8 HCN4 NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg) single nucleotide variant Pathogenic rs121908411 GRCh38 Chromosome 15, 73329725: 73329725
9 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh38 Chromosome 15, 73323445: 73323445
10 HCN4 NM_005477.2(HCN4): c.2648C> G (p.Pro883Arg) single nucleotide variant Benign rs148398509 GRCh37 Chromosome 15, 73615786: 73615786
11 HCN4 NM_005477.2(HCN4): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance rs773857091 GRCh37 Chromosome 15, 73660194: 73660194
12 HCN4 NM_005477.2(HCN4): c.418G> A (p.Gly140Ser) single nucleotide variant Uncertain significance rs773857091 GRCh38 Chromosome 15, 73367853: 73367853
13 HCN4 NM_005477.2(HCN4): c.1920_1932dup (p.Lys645Glnfs) duplication Pathogenic rs1057519274 GRCh38 Chromosome 15, 73325001: 73325013
14 HCN4 NM_005477.2(HCN4): c.1920_1932dup (p.Lys645Glnfs) duplication Pathogenic rs1057519274 GRCh37 Chromosome 15, 73617342: 73617354
15 HCN4 NM_005477.2(HCN4): c.1444G> C (p.Gly482Arg) single nucleotide variant Pathogenic rs794727637 GRCh38 Chromosome 15, 73329719: 73329719
16 HCN4 NM_005477.2(HCN4): c.1444G> C (p.Gly482Arg) single nucleotide variant Pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
17 HCN4 NM_005477.2(HCN4): c.1441T> C (p.Tyr481His) single nucleotide variant Uncertain significance rs1057519275 GRCh37 Chromosome 15, 73622063: 73622063
18 HCN4 NM_005477.2(HCN4): c.1441T> C (p.Tyr481His) single nucleotide variant Uncertain significance rs1057519275 GRCh38 Chromosome 15, 73329722: 73329722
19 HCN4 NM_005477.2(HCN4): c.1241C> G (p.Ala414Gly) single nucleotide variant Pathogenic rs1057519276 GRCh37 Chromosome 15, 73624602: 73624602
20 HCN4 NM_005477.2(HCN4): c.1241C> G (p.Ala414Gly) single nucleotide variant Pathogenic rs1057519276 GRCh38 Chromosome 15, 73332261: 73332261
21 HCN4 NM_005477.2(HCN4): c.1297G> A (p.Gly433Ser) single nucleotide variant Uncertain significance rs573588965 GRCh38 Chromosome 15, 73332205: 73332205
22 HCN4 NM_005477.2(HCN4): c.1297G> A (p.Gly433Ser) single nucleotide variant Uncertain significance rs573588965 GRCh37 Chromosome 15, 73624546: 73624546
23 HCN4 NM_005477.2(HCN4): c.3305G> A (p.Arg1102His) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 73615129: 73615129
24 HCN4 NM_005477.2(HCN4): c.3305G> A (p.Arg1102His) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 73322788: 73322788
25 HCN4 NM_005477.2(HCN4): c.2917G> A (p.Gly973Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 73615517: 73615517
26 HCN4 NM_005477.2(HCN4): c.2917G> A (p.Gly973Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 73323176: 73323176

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

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10 dbSNP
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17 EFO
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75 UMLS via Orphanet
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