SSS1
MCID: SCK017
MIFTS: 34

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 57 73 13
Sick Sinus Syndrome 1, Autosomal Recessive 29 6 71
Sinus Node Disease, Familial, Autosomal Recessive 57 73
Sinus Bradycardia Syndrome, Familial 57 73
Sick Sinus Syndrome, Congenital 57 73
Sss1 57 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 57
Familial Sinus Bradycardia Syndrome 73
Congenital Absence of Sinus Rhythm 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero, infancy, or early childhood


HPO:

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


Classifications:



External Ids:

OMIM® 57 608567
OMIM Phenotypic Series 57 PS608567
MeSH 44 D012804
MedGen 41 C1837845
UMLS 71 C1837845

Summaries for Sick Sinus Syndrome 1

OMIM® : 57 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) (Updated 05-Mar-2021)

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 prolonged qt interval and atrioventricular block

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 (show all 6)
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 atrioventricular block 31 HP:0001678
3 ventricular escape rhythm 31 HP:0005155
4 sick sinus syndrome 31 HP:0011704
5 sinus bradycardia 31 HP:0001688
6 absent p wave 31 HP:0033122

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sinus bradycardia
atrial inexcitability
sinus arrest
irregular heartbeat
absent p waves
more

Clinical features from OMIM®:

608567 (Updated 05-Mar-2021)

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

Publications for Sick Sinus Syndrome 1

Articles related to Sick Sinus Syndrome 1:

(show all 39)
# Title Authors PMID Year
1
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 57 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. 57
6702657 1984
5
Spectrum of sinus node dysfunction in two siblings. 57
1258759 1976
6
Familial sinus node disease. 57
5093256 1971
7
Electrical reversion of cardiac arrhythmias. 57
6029120 1967
8
Three STIGMA AND STYLE STYLISTs Pattern the Fine Architectures of Apical Gynoecium and Are Critical for Male Gametophyte-Pistil Interaction. 61
33007250 2020
9
The conserved C-terminus of Sss1p is required to maintain the endoplasmic reticulum permeability barrier. 61
31848225 2020
10
[Implantable loop recorders for prolonged heart-rhythm monitoring in patients with cryptogenic stroke]. 61
33016670 2020
11
OsCNGC13 promotes seed-setting rate by facilitating pollen tube growth in stylar tissues. 61
28708858 2017
12
DNA promoter methylation-dependent transcription of the double C2-like domain β (DOC2B) gene regulates tumor growth in human cervical cancer. 61
24570007 2014
13
Prognostic value of myocardium perfusion imaging with a new reconstruction algorithm. 61
24281904 2014
14
Targeted gene suppression by inducing de novo DNA methylation in the gene promoter. 61
25184003 2014
15
Atrial giant cell myocarditis: a distinctive clinicopathologic entity. 61
23183940 2013
16
[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
17
Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II. 61
21536749 2011
18
Molecular aspect of good eating quality formation in Japonica rice. 61
21494675 2011
19
Structural studies and the assembly of the heptameric post-translational translocon complex. 61
20826819 2011
20
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
21
DNA methylation and aberrant expression of Sprouty1 in human prostate cancer. 61
19164898 2009
22
[Trends in mortality from homicide in Medellín (Colombia): 1975-2003]. 61
15960958 2005
23
Coordination of N-glycosylation and protein translocation across the endoplasmic reticulum membrane by Sss1 protein. 61
12860997 2003
24
The beta subunit of the Sec61p endoplasmic reticulum translocon interacts with the exocyst complex in Saccharomyces cerevisiae. 61
12665530 2003
25
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
26
Twenty-five years' experience with the arterial switch operation. 61
12324738 2002
27
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
28
Chronic alcohol consumption induces genomic but not p53-specific DNA hypomethylation in rat colon. 61
10539767 1999
29
Expression, purification, and characterization of Sss1p, an essential component of the yeast Sec61p protein translocation complex. 61
9693068 1998
30
Use of time-series analysis in infectious disease surveillance. 61
9803583 1998
31
DNA hypomethylation and proliferative activity are increased in the rectal mucosa of patients with long-standing ulcerative colitis. 61
8940998 1996
32
Global DNA hypomethylation occurs in the early stages of intestinal type gastric carcinoma. 61
8949650 1996
33
Structure, organization, and chromosomal location of the gene encoding a form of rice soluble starch synthase. 61
7610165 1995
34
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
35
SSS1 encodes a stabilizing component of the Sec61 subcomplex of the yeast protein translocation apparatus. 61
7961662 1994
36
Global DNA hypomethylation increases progressively in cervical dysplasia and carcinoma. 61
8039116 1994
37
The yeast SSS1 gene is essential for secretory protein translocation and encodes a conserved protein of the endoplasmic reticulum. 61
8223425 1993
38
[Arrhythmic profiles evaluated by Holter's technique in sick sinus syndrome]. 61
1910879 1991
39
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 top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_198056.2(SCN5A):c.3893C>T (p.Pro1298Leu) SNV Pathogenic 9394 rs28937319 3:38603976-38603976 3:38562485-38562485
2 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
3 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 3:38601661-38601661 3:38560170-38560170
4 SCN5A NM_000335.4(SCN5A):c.1613del (p.Gly538fs) Deletion Pathogenic 523568 rs1553704183 3:38645480-38645480 3:38603989-38603989
5 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 3:38591991-38591991 3:38550500-38550500
6 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710
7 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781
8 SCN5A NM_000335.4(SCN5A):c.5212C>T (p.Arg1738Trp) SNV Pathogenic 67965 rs199473303 3:38592648-38592648 3:38551157-38551157
9 SCN5A NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) SNV Pathogenic 67731 rs199473161 3:38627529-38627529 3:38586038-38586038
10 SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) SNV Pathogenic 9396 rs45620037 3:38655278-38655278 3:38613787-38613787
11 SCN5A NM_000335.5(SCN5A):c.612-189C>T SNV Likely pathogenic 918717 3:38655514-38655514 3:38614023-38614023
12 SCN5A NM_198056.2(SCN5A):c.1491T>G (p.Ser497=) SNV Uncertain significance 345128 rs761505485 3:38646247-38646247 3:38604756-38604756
13 SCN5A NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) SNV Uncertain significance 227933 rs560476223 3:38592256-38592256 3:38550765-38550765
14 SCN5A NM_198056.2(SCN5A):c.787G>A (p.Val263Ile) SNV Uncertain significance 201444 rs752824646 3:38651372-38651372 3:38609881-38609881
15 SCN5A NM_198056.2(SCN5A):c.*1074C>G SNV Uncertain significance 345083 rs776171341 3:38590738-38590738 3:38549247-38549247
16 SCN5A NM_198056.2(SCN5A):c.-107G>A SNV Uncertain significance 345132 rs886058466 3:38691076-38691076 3:38649585-38649585
17 SCN5A NM_198056.2(SCN5A):c.5971C>T (p.Arg1991Trp) SNV Uncertain significance 345112 rs371308670 3:38591892-38591892 3:38550401-38550401
18 SCN5A NM_198056.2(SCN5A):c.*382T>C SNV Uncertain significance 345101 rs45459402 3:38591430-38591430 3:38549939-38549939
19 SCN5A NM_198056.2(SCN5A):c.1800G>A (p.Val600=) SNV Uncertain significance 345127 rs758101066 3:38645293-38645293 3:38603802-38603802
20 SCN5A NM_198056.2(SCN5A):c.*1568G>C SNV Uncertain significance 345074 rs45503498 3:38590244-38590244 3:38548753-38548753
21 SCN5A NM_198056.2(SCN5A):c.-53+12C>T SNV Uncertain significance 345130 rs886058464 3:38691010-38691010 3:38649519-38649519
22 SCN5A NM_198056.2(SCN5A):c.*290G>A SNV Uncertain significance 345104 rs886058457 3:38591522-38591522 3:38550031-38550031
23 SCN5A NM_000335.5(SCN5A):c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle) Indel Uncertain significance 931959 3:38601820-38601821 3:38560329-38560330
24 SCN5A NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) SNV Uncertain significance 139044 rs370346797 3:38648256-38648256 3:38606765-38606765
25 SCN5A NM_198056.2(SCN5A):c.*747G>A SNV Uncertain significance 345093 rs763830252 3:38591065-38591065 3:38549574-38549574
26 SCN5A NM_198056.2(SCN5A):c.4827G>A (p.Ser1609=) SNV Uncertain significance 345115 rs886058460 3:38593036-38593036 3:38551545-38551545
27 SCN5A NM_198056.2(SCN5A):c.4671C>T (p.Ile1557=) SNV Uncertain significance 345116 rs886058461 3:38595912-38595912 3:38554421-38554421
28 SCN5A NM_198056.2(SCN5A):c.3463C>T (p.Pro1155Ser) SNV Uncertain significance 345117 rs781103369 3:38618200-38618200 3:38576709-38576709
29 SCN5A NM_198056.2(SCN5A):c.*889C>A SNV Uncertain significance 345091 rs546849670 3:38590923-38590923 3:38549432-38549432
30 SCN5A NM_198056.2(SCN5A):c.*705C>A SNV Uncertain significance 345095 rs886058452 3:38591107-38591107 3:38549616-38549616
31 SCN5A NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) SNV Uncertain significance 68018 rs199473333 3:38591959-38591959 3:38550468-38550468
32 SCN5A NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser) SNV Uncertain significance 68011 rs199473637 3:38592060-38592060 3:38550569-38550569
33 SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val) SNV Uncertain significance 582721 rs371194826 3:38592068-38592068 3:38550577-38550577
34 SCN5A NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) SNV Uncertain significance 179372 rs727504822 3:38592077-38592077 3:38550586-38550586
35 SCN5A NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His) SNV Uncertain significance 68009 rs199473327 3:38592125-38592125 3:38550634-38550634
36 SCN5A NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) SNV Uncertain significance 67924 rs199473278 3:38595797-38595797 3:38554306-38554306
37 SCN5A NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) SNV Uncertain significance 67802 rs199473595 3:38616898-38616898 3:38575407-38575407
38 LOC110121269 NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg) SNV Uncertain significance 67779 rs199473186 3:38622532-38622532 3:38581041-38581041
39 LOC110121269 NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln) SNV Uncertain significance 520458 rs763891399 3:38622570-38622570 3:38581079-38581079
40 LOC110121269 NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln) SNV Uncertain significance 201483 rs753149586 3:38622726-38622726 3:38581235-38581235
41 SCN5A NM_198056.2(SCN5A):c.2399G>A (p.Arg800His) SNV Uncertain significance 222807 rs566251672 3:38628928-38628928 3:38587437-38587437
42 SCN5A NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) SNV Uncertain significance 30048 rs199473111 3:38647498-38647498 3:38606007-38606007
43 SCN5A NM_000335.5(SCN5A):c.880G>A (p.Val294Met) SNV Uncertain significance 68054 rs199473086 3:38651279-38651279 3:38609788-38609788
44 SCN5A NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) SNV Uncertain significance 179791 rs727505131 3:38674647-38674647 3:38633156-38633156
45 SCN5A NM_198056.2(SCN5A):c.*920G>C SNV Uncertain significance 345090 rs561475141 3:38590892-38590892 3:38549401-38549401
46 SCN5A NM_198056.2(SCN5A):c.4109A>G (p.Asp1370Gly) SNV Uncertain significance 201506 rs775485359 3:38601774-38601774 3:38560283-38560283
47 SCN5A NM_198056.2(SCN5A):c.*331T>C SNV Uncertain significance 345102 rs551399685 3:38591481-38591481 3:38549990-38549990
48 SCN5A NM_198056.2(SCN5A):c.3542T>C (p.Val1181Ala) SNV Uncertain significance 242196 rs376965389 3:38616912-38616912 3:38575421-38575421
49 SCN5A NM_198056.2(SCN5A):c.*2135C>A SNV Uncertain significance 345062 rs45502793 3:38589677-38589677 3:38548186-38548186
50 SCN5A NM_198056.2(SCN5A):c.*160G>A SNV Uncertain significance 345106 rs772585696 3:38591652-38591652 3:38550161-38550161

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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