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SSS1
MCID: SCK017
MIFTS: 25

Sick Sinus Syndrome 1 (SSS1)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Sick Sinus Syndrome 1

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MalaCards integrated aliases for Sick Sinus Syndrome 1:

Name: Sick Sinus Syndrome 1 58 76 13
Sick Sinus Syndrome 1, Autosomal Recessive 30 6 74
Sinus Node Disease, Familial, Autosomal Recessive 58 76
Sinus Bradycardia Syndrome, Familial 58 76
Sick Sinus Syndrome, Congenital 58 76
Sss1 58 76
Sinus, Sick, Syndrome, Type 1, Autosomal Recessive 41
Familial Sinus Node Disease Autosomal Recessive 76
Autosomal Recessive Sick Sinus Syndrome 1 76
Sinus Rhythm, Congenital Absence of 58
Familial Sinus Bradycardia Syndrome 76
Congenital Absence of Sinus Rhythm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero, infancy, or early childhood


HPO:

33
sick sinus syndrome 1:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 608567
MeSH 45 D012804
MedGen 43 C1837845
UMLS 74 C1837845
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Summaries for Sick Sinus Syndrome 1

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OMIM : 58 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 2 and sick sinus syndrome 3. An important gene associated with Sick Sinus Syndrome 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5). Affiliated tissues include heart, and related phenotypes are atrioventricular block and prolonged qt interval

UniProtKB/Swiss-Prot : 76 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.

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Related Diseases for Sick Sinus Syndrome 1

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

# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 2 11.5
2 sick sinus syndrome 3 11.1
3 pulmonary hypertension, primary, 3 10.2
4 sick sinus syndrome 10.2
5 atrioventricular block 10.1

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



Diseases related to Sick Sinus Syndrome 1
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Symptoms & Phenotypes for Sick Sinus Syndrome 1

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Human phenotypes related to Sick Sinus Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 33 HP:0001678
2 prolonged qt interval 33 HP:0001657
3 ventricular escape rhythm 33 HP:0005155
4 sinus bradycardia 33 HP:0001688
5 sick sinus syndrome 33 HP:0011704

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sinus bradycardia
atrial inexcitability
sinus arrest
irregular heartbeat
absent p waves
more

Clinical features from OMIM:

608567
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Drugs & Therapeutics for Sick Sinus Syndrome 1

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

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Genetic Tests for Sick Sinus Syndrome 1

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Genetic tests related to Sick Sinus Syndrome 1:

# Genetic test Affiliating Genes
1 Sick Sinus Syndrome 1, Autosomal Recessive 30 SCN5A
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Anatomical Context for Sick Sinus Syndrome 1

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MalaCards organs/tissues related to Sick Sinus Syndrome 1:

42
Heart
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Publications for Sick Sinus Syndrome 1

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Articles related to Sick Sinus Syndrome 1:

# Title Authors Year
1
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. ( 15671429 )
2005
2
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). ( 14523039 )
2003
3
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. ( 11748104 )
2001
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Variations for Sick Sinus Syndrome 1

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

76
# 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

ClinVar genetic disease variations for Sick Sinus Syndrome 1:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh37 Chromosome 3, 38592996: 38592996
2 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh38 Chromosome 3, 38551505: 38551505
3 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh37 Chromosome 3, 38603976: 38603976
4 SCN5A NM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu) single nucleotide variant Pathogenic rs28937319 GRCh38 Chromosome 3, 38562485: 38562485
5 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
6 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
7 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
8 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
9 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
10 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
11 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
12 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
13 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
14 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
15 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh37 Chromosome 3, 38622532: 38622532
16 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh38 Chromosome 3, 38581041: 38581041
17 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh37 Chromosome 3, 38616898: 38616898
18 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh38 Chromosome 3, 38575407: 38575407
19 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh37 Chromosome 3, 38595797: 38595797
20 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh38 Chromosome 3, 38554306: 38554306
21 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh37 Chromosome 3, 38592174: 38592174
22 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh38 Chromosome 3, 38550683: 38550683
23 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh37 Chromosome 3, 38592125: 38592125
24 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh38 Chromosome 3, 38550634: 38550634
25 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh37 Chromosome 3, 38592060: 38592060
26 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh38 Chromosome 3, 38550569: 38550569
27 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh37 Chromosome 3, 38591959: 38591959
28 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh38 Chromosome 3, 38550468: 38550468
29 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh37 Chromosome 3, 38651279: 38651279
30 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh38 Chromosome 3, 38609788: 38609788
31 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh38 Chromosome 3, 38550586: 38550586
32 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh37 Chromosome 3, 38592077: 38592077
33 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh37 Chromosome 3, 38674647: 38674647
34 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh38 Chromosome 3, 38633156: 38633156
35 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh37 Chromosome 3, 38591991: 38591991
36 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh38 Chromosome 3, 38550500: 38550500
37 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh37 Chromosome 3, 38622726: 38622726
38 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh38 Chromosome 3, 38581235: 38581235
39 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh37 Chromosome 3, 38628928: 38628928
40 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh38 Chromosome 3, 38587437: 38587437
41 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh37 Chromosome 3, 38622570: 38622570
42 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh38 Chromosome 3, 38581079: 38581079
43 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38550577: 38550577
44 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38592068: 38592068
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Expression for Sick Sinus Syndrome 1

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

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GO Terms for Sick Sinus Syndrome 1

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Sources for Sick Sinus Syndrome 1

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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