Sick Sinus Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 608567

MedGen ⁴² C1837845

MeSH ⁴⁴ D012804

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 111975006 more

UMLS ⁷³ C1837845

Sources

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 atrioventricular block and prolonged qt interval

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.

Sources

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
1	sick sinus syndrome 2	11.5
2	sick sinus syndrome 3	11.1
3	sick sinus syndrome	10.1

Sources

Symptoms & Phenotypes for Sick Sinus Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

608567

Human phenotypes related to Sick Sinus Syndrome 1:

³²

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

Sources

Drugs & Therapeutics for Sick Sinus Syndrome 1

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

Sources

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

Sources

Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

⁴¹

Heart

Sources

Publications for Sick Sinus Syndrome 1

Sources

Genes for Sick Sinus Syndrome 1

Genes related to Sick Sinus Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	1328.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	14523039 15671429 11748104

Sources

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
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

Sources

Expression for Sick Sinus Syndrome 1

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

Sources

Pathways for Sick Sinus Syndrome 1

Sources

GO Terms for Sick Sinus Syndrome 1

Sources

Sources for Sick Sinus Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Sick Sinus Syndrome 1 (SSS1)

Aliases & Classifications for Sick Sinus Syndrome 1

MalaCards integrated aliases for Sick Sinus Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Sick Sinus Syndrome 1

Related Diseases for Sick Sinus Syndrome 1

Diseases in the Sick Sinus Syndrome family:

Diseases related to Sick Sinus Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Sick Sinus Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Sick Sinus Syndrome 1:

Drugs & Therapeutics for Sick Sinus Syndrome 1

Genetic Tests for Sick Sinus Syndrome 1

Genetic tests related to Sick Sinus Syndrome 1:

Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

Publications for Sick Sinus Syndrome 1

Genes for Sick Sinus Syndrome 1

Genes related to Sick Sinus Syndrome 1 (1 elite genes):

Variations for Sick Sinus Syndrome 1

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

ClinVar genetic disease variations for Sick Sinus Syndrome 1:

Expression for Sick Sinus Syndrome 1

Pathways for Sick Sinus Syndrome 1

GO Terms for Sick Sinus Syndrome 1

Sources for Sick Sinus Syndrome 1