MCID: SCK014
MIFTS: 24

Sick Sinus Syndrome 2 malady

Genetic category

Summaries for Sick Sinus Syndrome 2

Sources:
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 brugada syndrome. 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 sodium and potassium have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:47 163800,608567,614090

Aliases & Classifications for Sick Sinus Syndrome 2

Sources:
61UMLS, 47OMIM, 49Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


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 61
familial sinus node dysfunction 49
sinus node dysfunction 61


External Ids:

SNOMED-CT via Orphanet58 36083008
UMLS via Orphanet62 C0037052
MESH via Orphanet36 D012804

Related Diseases for Sick Sinus Syndrome 2

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sick Sinus Syndrome 2:



Diseases related to sick sinus syndrome 2

Clinical Features for Sick Sinus Syndrome 2

Sources:
47OMIM
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Clinical features from OMIM:

163800,608567,614090

Clinical synopsis from OMIM:

163800

Drugs & Therapeutics for Sick Sinus Syndrome 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Sick Sinus Syndrome 2

Animal Models for Sick Sinus Syndrome 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Sick Sinus Syndrome 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5HCN4, MYH6, SCN5A
2MP:00053698.2HCN4, MYH6, SCN5A

Publications for Sick Sinus Syndrome 2

Genetic Variations for Sick Sinus Syndrome 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Sick Sinus Syndrome 2:

63
id Symbol AA change Variation SNP ID
1HCN4p.Ser672ArgVAR_026535
2HCN4p.Ala485ValVAR_066614

Expression for genes affiliated with Sick Sinus Syndrome 2

Sources:
1BioGPS, 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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB
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Pathways related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3HCN4, MYH6
29.1MYH6, SCN5A
39.0HCN4, SCN5A
49.0HCN4, SCN5A

Compounds for genes affiliated with Sick Sinus Syndrome 2

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

idCompoundScoreTop Affiliating Genes
1sodium45 2410.0HCN4, SCN5A
2potassium45 11 2410.7HCN4, SCN5A

GO Terms for genes affiliated with Sick Sinus Syndrome 2

Sources:
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:0017019.3HCN4, MYH6
2regulation of heart contractionGO:0080169.2HCN4, MYH6
3regulation of heart rateGO:0020279.1MYH6, SCN5A
4muscle contractionGO:0069369.0HCN4, MYH6

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.1MYH6, SCN5A

Products for genes affiliated with Sick Sinus Syndrome 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sick Sinus Syndrome 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet