MCID: SCK014
MIFTS: 30

Sick Sinus Syndrome 2 malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Sick Sinus Syndrome 2

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47OMIM, 33MalaCards
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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:47 163800,608567,614090

Aliases & Classifications for Sick Sinus Syndrome 2

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Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
familial sick sinus syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

sick sinus syndrome 2 47
familial sick sinus syndrome 49 62
familial sinus node dysfunction 49
sinus node dysfunction 62


External Ids:

ICD10 via Orphanet26 I49.5
SNOMED-CT via Orphanet59 36083008
UMLS via Orphanet63 C0037052
MESH via Orphanet36 D012804

Related Diseases for Sick Sinus Syndrome 2

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Sick Sinus Syndrome 2:



Diseases related to sick sinus syndrome 2

Symptoms for Sick Sinus Syndrome 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

163800

Clinical features from OMIM:

163800,608567,614090

Drugs & Therapeutics for Sick Sinus Syndrome 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Sick Sinus Syndrome 2

Search NIH Clinical Center for Sick Sinus Syndrome 2

Genetic Tests for Sick Sinus Syndrome 2

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Anatomical Context for Sick Sinus Syndrome 2

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Animal Models for Sick Sinus Syndrome 2 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Sick Sinus Syndrome 2:

37
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

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Variations for Sick Sinus Syndrome 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Sick Sinus Syndrome 2:

64
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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 12EMD Millipore, 55Reactome
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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

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Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine459.1MYH6, SCN5A
2potassium45 24 1111.0SCN5A, HCN4
3sodium45 249.9SCN5A, HCN4
4oligonucleotide458.8MYH6, SCN5A

GO Terms for genes affiliated with Sick Sinus Syndrome 2

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16Gene Ontology
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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

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Sources for Sick Sinus Syndrome 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet