SSS1
MCID: SCK017
MIFTS: 23

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 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 recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608567
MeSH 45 D012804
MedGen 43 C1837845
UMLS 74 C1837845

Summaries for Sick Sinus Syndrome 1

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.

Related Diseases for Sick Sinus Syndrome 1

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 sick sinus syndrome 10.1

Symptoms & Phenotypes for Sick Sinus Syndrome 1

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

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 30 SCN5A

Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

42
Heart

Publications for Sick Sinus Syndrome 1

Variations for Sick Sinus Syndrome 1

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
# 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

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
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
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