MCID: SCK014
MIFTS: 15

Sick Sinus Syndrome 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Sick Sinus Syndrome 2

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Aliases & Descriptions for Sick Sinus Syndrome 2:

Name: Sick Sinus Syndrome 2 46 9
 
Sick Sinus Syndrome 2, Autosomal Dominant 20 22


Classifications:



External Ids:

OMIM46 163800

Summaries for Sick Sinus Syndrome 2

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MalaCards based summary: Sick Sinus Syndrome 2, is also known as sick sinus syndrome 2, autosomal dominant, and has symptoms including autosomal dominant inheritance, sinus bradycardia and congenital onset. An important gene associated with Sick Sinus Syndrome 2 is HCN4 (hyperpolarization activated cyclic nucleotide-gated potassium channel 4).

Description from OMIM:46 163800

Related Diseases for Sick Sinus Syndrome 2

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Symptoms for Sick Sinus Syndrome 2

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Symptoms by clinical synopsis from OMIM:

163800

Clinical features from OMIM:

163800

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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Genetic tests related to Sick Sinus Syndrome 2:

id Genetic test Affiliating Genes
1 Sick Sinus Syndrome 2, Autosomal Dominant20 22 HCN4

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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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:

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

Clinvar genetic disease variations for Sick Sinus Syndrome 2:

5
id Gene Variation 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

Expression for genes affiliated with Sick Sinus Syndrome 2

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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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Compounds for genes affiliated with Sick Sinus Syndrome 2

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GO Terms for genes affiliated with Sick Sinus Syndrome 2

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Sources for Sick Sinus Syndrome 2

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet