MCID: SCK014
MIFTS: 30

Sick Sinus Syndrome 2 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Sick Sinus Syndrome 2

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Sick Sinus Syndrome 2, also known as familial sick sinus syndrome, is related to sick sinus syndrome and sick sinus syndrome 2, autosomal dominant. An important gene associated with Sick Sinus Syndrome 2 is HCN4 (hyperpolarization activated cyclic nucleotide-gated potassium channel 4), and among its related pathways are Sweet Taste Signaling and Cardiac Progenitor Differentiation. The compounds arginine and potassium have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and muscle.

Description from OMIM:48 163800,608567,614090

Aliases & Classifications for Sick Sinus Syndrome 2

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

50
familial sick sinus syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

sick sinus syndrome 2 48
familial sick sinus syndrome 50 63
familial sinus node dysfunction 50
sinus node dysfunction 63


External Ids:

ICD10 via Orphanet27 I49.5
SNOMED-CT via Orphanet60 36083008
UMLS via Orphanet64 C0037052
MESH via Orphanet37 D012804

Related Diseases for Sick Sinus Syndrome 2

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Sick Sinus Syndrome 2:



Diseases related to sick sinus syndrome 2

Symptoms for Sick Sinus Syndrome 2

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

163800

Clinical features from OMIM:

163800,608567,614090

Drugs & Therapeutics for Sick Sinus Syndrome 2

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Sick Sinus Syndrome 2

Drug clinical trials:

Search ClinicalTrials for Sick Sinus Syndrome 2

Search NIH Clinical Center for Sick Sinus Syndrome 2

Search CenterWatch for Sick Sinus Syndrome 2

Genetic Tests for Sick Sinus Syndrome 2

About this section

Anatomical Context for Sick Sinus Syndrome 2

About this section

Animal Models for Sick Sinus Syndrome 2 or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Sick Sinus Syndrome 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.5MYH6, SCN5A, HCN4
2MP:00053698.4MYH6, SCN5A, HCN4
3MP:00053858.2MYH6, SCN5A, HCN4

Publications for Sick Sinus Syndrome 2

About this section

Variations for Sick Sinus Syndrome 2

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Sick Sinus Syndrome 2:

65
id Symbol AA change Variation ID SNP ID
1HCN4p.Ser672ArgVAR_026535
2HCN4p.Ala485ValVAR_066614

Clinvar genetic disease variations for Sick Sinus Syndrome 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1HCN4NM_005477.2(HCN4): c.2016C> A (p.Ser672Arg)single nucleotide variantPathogenicrs104894488GRCh37Chr 15, 73616557: 73616557
2HCN4HCN4, 1-BP DEL, 1631CdeletionPathogenic
3HCN4NM_005477.2(HCN4): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs104894485GRCh37Chr 15, 73617719: 73617719
4HCN4NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg)single nucleotide variantPathogenicrs121908411GRCh37Chr 15, 73622066: 73622066
5SCN5ANM_000335.4(SCN5A): c.5347G> A (p.Glu1783Lys)single nucleotide variantPathogenicrs137854601GRCh37Chr 3, 38592513: 38592513

Expression for genes affiliated with Sick Sinus Syndrome 2

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sick Sinus Syndrome 2

Search GEO for disease gene expression data for Sick Sinus Syndrome 2.

Pathways for genes affiliated with Sick Sinus Syndrome 2

About this section
Sources:
51PathCards, 54QIAGEN, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 13EMD Millipore, 56Reactome
See all sources

Pathways related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3MYH6, HCN4
29.1MYH6, SCN5A
39.1MYH6, SCN5A
49.0HCN4, SCN5A
5
Show member pathways
9.0SCN5A, HCN4

Compounds for genes affiliated with Sick Sinus Syndrome 2

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine469.1MYH6, SCN5A
2potassium46 25 1211.0SCN5A, HCN4
3sodium46 259.9SCN5A, HCN4
4oligonucleotide468.8MYH6, SCN5A

GO Terms for genes affiliated with Sick Sinus Syndrome 2

About this section
Sources:
17Gene Ontology
See all sources

Biological processes related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:0017019.3MYH6, HCN4
2muscle contractionGO:0069369.0MYH6, HCN4
3sodium ion transmembrane transportGO:0357258.9SCN5A, HCN4
4regulation of heart rateGO:0020278.5MYH6, SCN5A, HCN4

Molecular functions related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.1MYH6, SCN5A
2voltage-gated sodium channel activityGO:0052488.7SCN5A, HCN4

Products for genes affiliated with Sick Sinus Syndrome 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sick Sinus Syndrome 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet