SSS1
MCID: SCK017
MIFTS: 32

Sick Sinus Syndrome 1 (SSS1)

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

Aliases & Classifications for Sick Sinus Syndrome 1

MalaCards integrated aliases for Sick Sinus Syndrome 1:

Name: Sick Sinus Syndrome 1 56 73 13
Sick Sinus Syndrome 1, Autosomal Recessive 29 6 71
Sinus Node Disease, Familial, Autosomal Recessive 56 73
Sinus Bradycardia Syndrome, Familial 56 73
Sick Sinus Syndrome, Congenital 56 73
Sss1 56 73
Sinus, Sick, Syndrome, Type 1, Autosomal Recessive 39
Familial Sinus Node Disease Autosomal Recessive 73
Autosomal Recessive Sick Sinus Syndrome 1 73
Sinus Rhythm, Congenital Absence of 56
Familial Sinus Bradycardia Syndrome 73
Congenital Absence of Sinus Rhythm 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero, infancy, or early childhood


HPO:

31
sick sinus syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 56 608567
OMIM Phenotypic Series 56 PS608567
MeSH 43 D012804
MedGen 41 C1837845
UMLS 71 C1837845

Summaries for Sick Sinus Syndrome 1

OMIM : 56 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, in which case it is considered to be a congenital disorder (Benson et al., 2003). (608567)

MalaCards based summary : Sick Sinus Syndrome 1, also known as sick sinus syndrome 1, autosomal recessive, is related to sick sinus syndrome and sick sinus syndrome 2. An important gene associated with Sick Sinus Syndrome 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5). Affiliated tissues include heart, colon and prostate, and related phenotypes are atrioventricular block and prolonged qt interval

UniProtKB/Swiss-Prot : 73 Sick sinus syndrome 1: 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. SSS1 onset is in utero, infancy, or early childhood.

Related Diseases for Sick Sinus Syndrome 1

Graphical network of the top 20 diseases related to Sick Sinus Syndrome 1:



Diseases related to Sick Sinus Syndrome 1

Symptoms & Phenotypes for Sick Sinus Syndrome 1

Human phenotypes related to Sick Sinus Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 31 HP:0001678
2 prolonged qt interval 31 HP:0001657
3 ventricular escape rhythm 31 HP:0005155
4 sick sinus syndrome 31 HP:0011704
5 sinus bradycardia 31 HP:0001688

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sinus bradycardia
atrial inexcitability
sinus arrest
irregular heartbeat
absent p waves
more

Clinical features from OMIM:

608567

Drugs & Therapeutics for Sick Sinus Syndrome 1

Search Clinical Trials , NIH Clinical Center for Sick Sinus Syndrome 1

Genetic Tests for Sick Sinus Syndrome 1

Genetic tests related to Sick Sinus Syndrome 1:

# Genetic test Affiliating Genes
1 Sick Sinus Syndrome 1, Autosomal Recessive 29 SCN5A

Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

40
Heart, Colon, Prostate, Thyroid

Publications for Sick Sinus Syndrome 1

Articles related to Sick Sinus Syndrome 1:

(show all 37)
# Title Authors PMID Year
1
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 56 6
14523039 2003
2
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 6
15671429 2005
3
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6
11748104 2001
4
Familial atrial standstill and inexcitability in childhood. 56
6702657 1984
5
Spectrum of sinus node dysfunction in two siblings. 56
1258759 1976
6
Familial sinus node disease. 56
5093256 1971
7
Electrical reversion of cardiac arrhythmias. 56
6029120 1967
8
The conserved C-terminus of Sss1p is required to maintain the ER permeability barrier. 61
31848225 2019
9
OsCNGC13 promotes seed-setting rate by facilitating pollen tube growth in stylar tissues. 61
28708858 2017
10
DNA promoter methylation-dependent transcription of the double C2-like domain β (DOC2B) gene regulates tumor growth in human cervical cancer. 61
24570007 2014
11
Prognostic value of myocardium perfusion imaging with a new reconstruction algorithm. 61
24281904 2014
12
Targeted gene suppression by inducing de novo DNA methylation in the gene promoter. 61
25184003 2014
13
Atrial giant cell myocarditis: a distinctive clinicopathologic entity. 61
23183940 2013
14
[Gene expression of the key enzymes controlling starch synthesis and metabolism in rice grain endosperm under effects of high temperature after anthesis]. 61
22720620 2012
15
Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II. 61
21536749 2011
16
Molecular aspect of good eating quality formation in Japonica rice. 61
21494675 2011
17
Structural studies and the assembly of the heptameric post-translational translocon complex. 61
20826819 2011
18
Initial and delayed stress phase imaging in a single-injection double-acquisition SPECT. The potential value of early 99mTc-MIBI redistribution in assessment of myocardial perfusion reversibility in patients with coronary artery disease. 61
20162245 2010
19
DNA methylation and aberrant expression of Sprouty1 in human prostate cancer. 61
19164898 2009
20
[Trends in mortality from homicide in Medellín (Colombia): 1975-2003]. 61
15960958 2005
21
Coordination of N-glycosylation and protein translocation across the endoplasmic reticulum membrane by Sss1 protein. 61
12860997 2003
22
The beta subunit of the Sec61p endoplasmic reticulum translocon interacts with the exocyst complex in Saccharomyces cerevisiae. 61
12665530 2003
23
Radiofrequency ablation of atrioventricular nodal reentrant tachycardia: the risk of intraprocedural, late and long-term atrioventricular block. The Veneto Region multicenter experience. 61
12611122 2002
24
Twenty-five years' experience with the arterial switch operation. 61
12324738 2002
25
Folate deficiency in vitro induces uracil misincorporation and DNA hypomethylation and inhibits DNA excision repair in immortalized normal human colon epithelial cells. 61
11142099 2000
26
Chronic alcohol consumption induces genomic but not p53-specific DNA hypomethylation in rat colon. 61
10539767 1999
27
Expression, purification, and characterization of Sss1p, an essential component of the yeast Sec61p protein translocation complex. 61
9693068 1998
28
Use of time-series analysis in infectious disease surveillance. 61
9803583 1998
29
DNA hypomethylation and proliferative activity are increased in the rectal mucosa of patients with long-standing ulcerative colitis. 61
8940998 1996
30
Global DNA hypomethylation occurs in the early stages of intestinal type gastric carcinoma. 61
8949650 1996
31
Analysis of a 32.8 kb segment of yeast chromosome IV reveals 21 open reading frames, including TPS2, PPH3, RAD55, SED1, PDC2, AFR1, SSS1, SLU7 and a tRNA for arginine. 61
7483840 1995
32
Structure, organization, and chromosomal location of the gene encoding a form of rice soluble starch synthase. 61
7610165 1995
33
SSS1 encodes a stabilizing component of the Sec61 subcomplex of the yeast protein translocation apparatus. 61
7961662 1994
34
Global DNA hypomethylation increases progressively in cervical dysplasia and carcinoma. 61
8039116 1994
35
The yeast SSS1 gene is essential for secretory protein translocation and encodes a conserved protein of the endoplasmic reticulum. 61
8223425 1993
36
[Arrhythmic profiles evaluated by Holter's technique in sick sinus syndrome]. 61
1910879 1991
37
The Activitrax rate responsive pacemaker system. 61
3336998 1988

Variations for Sick Sinus Syndrome 1

ClinVar genetic disease variations for Sick Sinus Syndrome 1:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
2 SCN5A NM_198056.2(SCN5A):c.3893C>T (p.Pro1298Leu)SNV Pathogenic 9394 rs28937319 3:38603976-38603976 3:38562485-38562485
3 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
4 SCN5A NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln)SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
5 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
6 SCN5A NM_198056.2(SCN5A):c.5215C>T (p.Arg1739Trp)SNV Conflicting interpretations of pathogenicity 67965 rs199473303 3:38592648-38592648 3:38551157-38551157
7 SCN5A NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile)SNV Conflicting interpretations of pathogenicity 9396 rs45620037 3:38655278-38655278 3:38613787-38613787
8 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter)SNV Conflicting interpretations of pathogenicity 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
9 SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val)SNV Conflicting interpretations of pathogenicity 582721 rs371194826 3:38592068-38592068 3:38550577-38550577
10 SCN5A NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln)SNV Uncertain significance 201483 rs753149586 3:38622726-38622726 3:38581235-38581235
11 SCN5A NM_198056.2(SCN5A):c.2399G>A (p.Arg800His)SNV Uncertain significance 222807 rs566251672 3:38628928-38628928 3:38587437-38587437
12 SCN5A NM_198056.2(SCN5A):c.5786G>A (p.Arg1929His)SNV Uncertain significance 179372 rs727504822 3:38592077-38592077 3:38550586-38550586
13 SCN5A NM_198056.2(SCN5A):c.152C>T (p.Ala51Val)SNV Uncertain significance 179791 rs727505131 3:38674647-38674647 3:38633156-38633156
14 SCN5A NM_198056.2(SCN5A):c.1282G>A (p.Glu428Lys)SNV Uncertain significance 30048 rs199473111 3:38647498-38647498 3:38606007-38606007
15 SCN5A NM_198056.2(SCN5A):c.5689C>T (p.Arg1897Trp)SNV Uncertain significance 68003 rs45465995 3:38592174-38592174 3:38550683-38550683
16 SCN5A NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His)SNV Uncertain significance 68009 rs199473327 3:38592125-38592125 3:38550634-38550634
17 SCN5A NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser)SNV Uncertain significance 68011 rs199473637 3:38592060-38592060 3:38550569-38550569
18 SCN5A NM_198056.2(SCN5A):c.5904C>G (p.Ile1968Met)SNV Uncertain significance 68018 rs199473333 3:38591959-38591959 3:38550468-38550468
19 SCN5A NM_198056.2(SCN5A):c.880G>A (p.Val294Met)SNV Uncertain significance 68054 rs199473086 3:38651279-38651279 3:38609788-38609788
20 SCN5A NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln)SNV Uncertain significance 520458 rs763891399 3:38622570-38622570 3:38581079-38581079
21 SCN5A NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg)SNV Uncertain significance 67779 rs199473186 3:38622532-38622532 3:38581041-38581041
22 SCN5A NM_198056.2(SCN5A):c.3556G>A (p.Ala1186Thr)SNV Uncertain significance 67802 rs199473595 3:38616898-38616898 3:38575407-38575407
23 SCN5A NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile)SNV Uncertain significance 67924 rs199473278 3:38595797-38595797 3:38554306-38554306

UniProtKB/Swiss-Prot genetic disease variations for Sick Sinus Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Thr220Ile VAR_017670 rs45620037
2 SCN5A p.Ala735Val VAR_017674 rs137854611
3 SCN5A p.Pro1298Leu VAR_017680 rs28937319
4 SCN5A p.Gly1408Arg VAR_017681 rs137854612
5 SCN5A p.Asp1792Asn VAR_068475 rs727504495

Expression for Sick Sinus Syndrome 1

Search GEO for disease gene expression data for Sick Sinus Syndrome 1.

Pathways for Sick Sinus Syndrome 1

GO Terms for Sick Sinus Syndrome 1

Sources for Sick Sinus Syndrome 1

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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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