MCID: SCK014
MIFTS: 22

Sick Sinus Syndrome 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Sick Sinus Syndrome 2

MalaCards integrated aliases for Sick Sinus Syndrome 2:

Name: Sick Sinus Syndrome 2 53 71 13
Sick Sinus Syndrome 2 with or Without Cardiac Noncompaction and/or Ascending Aorta Dilation 53 71
Sinus Bradycardia Syndrome, Familial, Autosomal Dominant 53 71
Sinus Node Disease, Familial, Autosomal Dominant 53 71
Sick Sinus Syndrome 2, Autosomal Dominant 28 69
Atrial Fibrillation with Bradyarrhythmia 53 71
Sss2 53 71
Familial Sinus Bradycardia Syndrome Autosomal Dominant 71
Autosomal Dominant Sick Sinus Syndrome 2 71
Sss Autosomal Dominant 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or at birth


HPO:

31
sick sinus syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Sick Sinus Syndrome 2

UniProtKB/Swiss-Prot : 71 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, is also known as sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation, and has symptoms including left ventricular hypertrophy, mitral valve prolapse and cardiac arrest. An important gene associated with Sick Sinus Syndrome 2 is HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4). Affiliated tissues include heart.

Description from OMIM: 163800

Related Diseases for Sick Sinus Syndrome 2

Symptoms & Phenotypes for Sick Sinus Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 mitral valve prolapse 31 occasional (7.5%) HP:0001634
3 cardiac arrest 31 occasional (7.5%) HP:0001695
4 atrial fibrillation 31 HP:0005110
5 aortic regurgitation 31 occasional (7.5%) HP:0001659
6 sinus bradycardia 31 HP:0001688
7 sick sinus syndrome 31 HP:0011704
8 ventricular fibrillation 31 occasional (7.5%) HP:0001663
9 left ventricular noncompaction 31 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
2 Evaluating Changes in Middle Ear Pressure Caused by CPAP Recruiting NCT02882022

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 28 HCN4

Anatomical Context for Sick Sinus Syndrome 2

MalaCards organs/tissues related to Sick Sinus Syndrome 2:

38
Heart

Publications for Sick Sinus Syndrome 2

Variations for Sick Sinus Syndrome 2

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1444G> A (p.Gly482Arg) single nucleotide variant Likely pathogenic rs794727637 GRCh37 Chromosome 15, 73622060: 73622060
2 HCN4 NM_005477.2(HCN4): c.2016C> A (p.Ser672Arg) single nucleotide variant Pathogenic rs104894488 GRCh37 Chromosome 15, 73616557: 73616557
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.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs104894485 GRCh37 Chromosome 15, 73617719: 73617719
5 HCN4 NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg) single nucleotide variant Pathogenic rs121908411 GRCh37 Chromosome 15, 73622066: 73622066
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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