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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MalaCards based summary: Sick Sinus Syndrome 2, also known as familial sick sinus syndrome, is related to sick sinus syndrome and sick sinus syndrome 2, autosomal dominant, and has symptoms including 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.

Descriptions from OMIM:46 163800,608567,614090

Aliases & Classifications for Sick Sinus Syndrome 2

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Sources:
46OMIM, 48Orphanet, 62UMLS, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Sick Sinus Syndrome 2, Aliases & Descriptions:

Name: Sick Sinus Syndrome 2 46
Familial Sick Sinus Syndrome 48 62
 
Familial Sinus Node Dysfunction 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial sick sinus syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000


External Ids:

UMLS via Orphanet63 C0037052
MESH via Orphanet35 D012804
ICD10 via Orphanet26 I49.5

Related Diseases for Sick Sinus Syndrome 2

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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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Symptoms by clinical synopsis from OMIM:

163800

Clinical features from OMIM:

163800,608567,614090

HPO human phenotypes related to Sick Sinus Syndrome 2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sinus bradycardia HP:0001688
3 congenital onset HP:0003577
4 atrial fibrillation HP:0005110

Drugs & Therapeutics for Sick Sinus Syndrome 2

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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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MGI Mouse Phenotypes related to Sick Sinus Syndrome 2:

36
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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1MYH6NM_002471.3(MYH6): c.2161C> T (p.Arg721Trp)single nucleotide variantrisk factorrs387906656GRCh37Chr 14, 23866179: 23866179
2HCN4NM_005477.2(HCN4): c.2016C> A (p.Ser672Arg)single nucleotide variantPathogenicrs104894488GRCh37Chr 15, 73616557: 73616557
3HCN4HCN4, 1-BP DEL, 1631CdeletionPathogenic
4HCN4NM_005477.2(HCN4): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs104894485GRCh37Chr 15, 73617719: 73617719
5HCN4NM_005477.2(HCN4): c.1438G> C (p.Gly480Arg)single nucleotide variantPathogenicrs121908411GRCh37Chr 15, 73622066: 73622066
6SCN5ANM_000335.4(SCN5A): c.4864C> T (p.Arg1622Ter)single nucleotide variantPathogenicrs137854613GRCh37Chr 3, 38592996: 38592996
7SCN5ANM_000335.4(SCN5A): c.3890C> T (p.Pro1297Leu)single nucleotide variantPathogenicrs28937319GRCh37Chr 3, 38603976: 38603976
8SCN5ANM_000335.4(SCN5A): c.659C> T (p.Thr220Ile)single nucleotide variantPathogenicrs45620037GRCh37Chr 3, 38655278: 38655278

Expression for genes affiliated with Sick Sinus Syndrome 2

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Expression patterns in normal tissues for genes affiliated with Sick Sinus Syndrome 2

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Pathways for genes affiliated with Sick Sinus Syndrome 2

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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:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Sick Sinus Syndrome 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.1MYH6, SCN5A
2potassium44 24 1111.0SCN5A, HCN4
3sodium44 249.9SCN5A, HCN4
4oligonucleotide448.8MYH6, SCN5A

GO Terms for genes affiliated with Sick Sinus Syndrome 2

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet