MCID: SCK017
MIFTS: 22

Sick Sinus Syndrome 1

Categories: Genetic diseases, Cardiovascular 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 75 13
Sick Sinus Syndrome 1, Autosomal Recessive 29 6 73
Sinus Node Disease, Familial, Autosomal Recessive 57 75
Sinus Bradycardia Syndrome, Familial 57 75
Sick Sinus Syndrome, Congenital 57 75
Sss1 57 75
Sinus, Sick, Syndrome, Type 1, Autosomal Recessive 40
Familial Sinus Node Disease Autosomal Recessive 75
Autosomal Recessive Sick Sinus Syndrome 1 75
Sinus Rhythm, Congenital Absence of 57
Familial Sinus Bradycardia Syndrome 75
Congenital Absence of Sinus Rhythm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero, infancy, or early childhood


HPO:

32
sick sinus syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 608567
MedGen 42 C1837845
MeSH 44 D012804
UMLS 73 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)

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 prolonged qt interval and atrioventricular block

UniProtKB/Swiss-Prot : 75 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 11.3
2 sick sinus syndrome 3 10.9
3 sick sinus syndrome 10.0

Symptoms & Phenotypes for Sick Sinus Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sinus bradycardia
sinus arrest
atrial inexcitability
irregular heartbeat
absent p waves
more

Clinical features from OMIM:

608567

Human phenotypes related to Sick Sinus Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 32 HP:0001657
2 atrioventricular block 32 HP:0001678
3 sinus bradycardia 32 HP:0001688
4 ventricular escape rhythm 32 HP:0005155
5 sick sinus syndrome 32 HP:0011704

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:

41
Heart

Publications for Sick Sinus Syndrome 1

Variations for Sick Sinus Syndrome 1

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

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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