MCID: SCK022
MIFTS: 17

Sick Sinus Syndrome 3

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

Aliases & Classifications for Sick Sinus Syndrome 3

MalaCards integrated aliases for Sick Sinus Syndrome 3:

Name: Sick Sinus Syndrome 3 57 75 13
Sick Sinus Syndrome 3, Susceptibility to 57 29 6
Sss3 57 75
Sinus, Sick, Syndrome, Type 3, Susceptibility to 40

Classifications:



External Ids:

OMIM 57 614090
MedGen 42 C3279791
MeSH 44 D012804

Summaries for Sick Sinus Syndrome 3

UniProtKB/Swiss-Prot : 75 Sick sinus syndrome 3: 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.

MalaCards based summary : Sick Sinus Syndrome 3, also known as sick sinus syndrome 3, susceptibility to, is related to atrial septal defect 3 and dilated cardiomyopathy. An important gene associated with Sick Sinus Syndrome 3 is MYH6 (Myosin Heavy Chain 6). Affiliated tissues include heart.

OMIM : 57 Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by Holm et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 (608567). (614090)

Related Diseases for Sick Sinus Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 atrial septal defect 3 9.2 MIR208A MYH6
2 dilated cardiomyopathy 9.0 MIR208A MYH6

Symptoms & Phenotypes for Sick Sinus Syndrome 3

Clinical features from OMIM:

614090

Drugs & Therapeutics for Sick Sinus Syndrome 3

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 3

Genetic Tests for Sick Sinus Syndrome 3

Genetic tests related to Sick Sinus Syndrome 3:

# Genetic test Affiliating Genes
1 Sick Sinus Syndrome 3, Susceptibility to 29 MYH6

Anatomical Context for Sick Sinus Syndrome 3

MalaCards organs/tissues related to Sick Sinus Syndrome 3:

41
Heart

Publications for Sick Sinus Syndrome 3

Variations for Sick Sinus Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Sick Sinus Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Arg721Trp VAR_065561 rs387906656

ClinVar genetic disease variations for Sick Sinus Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.2161C> T (p.Arg721Trp) single nucleotide variant risk factor rs387906656 GRCh37 Chromosome 14, 23866179: 23866179
2 MYH6 NM_002471.3(MYH6): c.2161C> T (p.Arg721Trp) single nucleotide variant risk factor rs387906656 GRCh38 Chromosome 14, 23396970: 23396970
3 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
4 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281

Expression for Sick Sinus Syndrome 3

Search GEO for disease gene expression data for Sick Sinus Syndrome 3.

Pathways for Sick Sinus Syndrome 3

GO Terms for Sick Sinus Syndrome 3

Sources for Sick Sinus Syndrome 3

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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