MCID: SCK014
MIFTS: 23

Sick Sinus Syndrome 2

Categories: Genetic diseases, Cardiovascular 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 57 75 13
Sick Sinus Syndrome 2, Autosomal Dominant 29 6 73
Sick Sinus Syndrome 2 with or Without Cardiac Noncompaction and/or Ascending Aorta Dilation 57 75
Sinus Bradycardia Syndrome, Familial, Autosomal Dominant 57 75
Sinus Node Disease, Familial, Autosomal Dominant 57 75
Atrial Fibrillation with Bradyarrhythmia 57 75
Sss2 57 75
Familial Sinus Bradycardia Syndrome Autosomal Dominant 75
Sinus, Sick, Syndrome, Type 2, Autosomal Dominant 40
Autosomal Dominant Sick Sinus Syndrome 2 75
Sss Autosomal Dominant 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or at birth


HPO:

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


Classifications:



Summaries for Sick Sinus Syndrome 2

UniProtKB/Swiss-Prot : 75 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 left ventricular hypertrophy and mitral valve prolapse

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 10.0

Symptoms & Phenotypes for Sick Sinus Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sinus bradycardia
atrial fibrillation (in some patients)
ventricular fibrillation (in some patients)
cardiac arrest (rare)
left ventricular noncompaction (in some patients)
more
Cardiovascular Vascular:
dilation of ascending aorta (in some patients)


Clinical features from OMIM:

163800

Human phenotypes related to Sick Sinus Syndrome 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
2 mitral valve prolapse 32 occasional (7.5%) HP:0001634
3 cardiac arrest 32 occasional (7.5%) HP:0001695
4 atrial fibrillation 32 HP:0005110
5 aortic regurgitation 32 occasional (7.5%) HP:0001659
6 sinus bradycardia 32 HP:0001688
7 sick sinus syndrome 32 HP:0011704
8 ventricular fibrillation 32 occasional (7.5%) HP:0001663
9 left ventricular noncompaction 32 occasional (7.5%) HP:0030682

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 29 HCN4

Anatomical Context for Sick Sinus Syndrome 2

MalaCards organs/tissues related to Sick Sinus Syndrome 2:

41
Heart

Publications for Sick Sinus Syndrome 2

Articles related to Sick Sinus Syndrome 2:

# Title Authors Year
1
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:

75
# 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
(show all 18)
# 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.1444G> A (p.Gly482Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
10 HCN4 NM_005477.2(HCN4): c.1444G> A (p.Gly482Arg) single nucleotide variant Pathogenic/Likely pathogenic rs794727637 GRCh38 Chromosome 15, 73329719: 73329719
11 HCN4 NM_005477.2(HCN4): c.1920_1932dupCAGCGTGCTCACC (p.Lys645Glnfs) duplication Pathogenic rs1057519274 GRCh38 Chromosome 15, 73325001: 73325013
12 HCN4 NM_005477.2(HCN4): c.1920_1932dupCAGCGTGCTCACC (p.Lys645Glnfs) duplication Pathogenic rs1057519274 GRCh37 Chromosome 15, 73617342: 73617354
13 HCN4 NM_005477.2(HCN4): c.1444G> C (p.Gly482Arg) single nucleotide variant Pathogenic rs794727637 GRCh38 Chromosome 15, 73329719: 73329719
14 HCN4 NM_005477.2(HCN4): c.1444G> C (p.Gly482Arg) single nucleotide variant Pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
15 HCN4 NM_005477.2(HCN4): c.1441T> C (p.Tyr481His) single nucleotide variant Pathogenic rs1057519275 GRCh37 Chromosome 15, 73622063: 73622063
16 HCN4 NM_005477.2(HCN4): c.1441T> C (p.Tyr481His) single nucleotide variant Pathogenic rs1057519275 GRCh38 Chromosome 15, 73329722: 73329722
17 HCN4 NM_005477.2(HCN4): c.1241C> G (p.Ala414Gly) single nucleotide variant Pathogenic rs1057519276 GRCh37 Chromosome 15, 73624602: 73624602
18 HCN4 NM_005477.2(HCN4): c.1241C> G (p.Ala414Gly) single nucleotide variant Pathogenic rs1057519276 GRCh38 Chromosome 15, 73332261: 73332261

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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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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