SSS3
MCID: SCK022
MIFTS: 18

Sick Sinus Syndrome 3 (SSS3)

Categories: Cardiovascular diseases, Genetic 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 58 76 13
Sick Sinus Syndrome 3, Susceptibility to 58 30 6
Sss3 58 76
Sinus, Sick, Syndrome, Type 3, Susceptibility to 41

Classifications:



External Ids:

OMIM 58 614090
MeSH 45 D012804
MedGen 43 C3279791

Summaries for Sick Sinus Syndrome 3

UniProtKB/Swiss-Prot : 76 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 : 58 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 9.6 MIR208A MYH6
2 dilated cardiomyopathy 9.5 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 30 MYH6

Anatomical Context for Sick Sinus Syndrome 3

MalaCards organs/tissues related to Sick Sinus Syndrome 3:

42
Heart

Publications for Sick Sinus Syndrome 3

Articles related to Sick Sinus Syndrome 3:

# Title Authors Year
1
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. ( 21378987 )
2011

Variations for Sick Sinus Syndrome 3

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

76
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Arg721Trp VAR_065561 rs387906656

ClinVar genetic disease variations for Sick Sinus Syndrome 3:

6 (show all 24)
# 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.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh37 Chromosome 14, 23863351: 23863351
4 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh38 Chromosome 14, 23394142: 23394142
5 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh37 Chromosome 14, 23874889: 23874889
6 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh38 Chromosome 14, 23405680: 23405680
7 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
8 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
9 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
10 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281
11 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh37 Chromosome 14, 23855165: 23855165
12 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh38 Chromosome 14, 23385956: 23385956
13 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh38 Chromosome 14, 23407109: 23407109
14 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh37 Chromosome 14, 23876318: 23876318
15 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh37 Chromosome 14, 23870084: 23870084
16 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh38 Chromosome 14, 23400875: 23400875
17 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh37 Chromosome 14, 23859394: 23859394
18 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh38 Chromosome 14, 23390185: 23390185
19 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh37 Chromosome 14, 23855223: 23855223
20 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh38 Chromosome 14, 23386014: 23386014
21 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh37 Chromosome 14, 23869525: 23869525
22 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh38 Chromosome 14, 23400316: 23400316
23 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh37 Chromosome 14, 23863386: 23863386
24 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh38 Chromosome 14, 23394177: 23394177

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....