MCID: SCK014
MIFTS: 15

Sick Sinus Syndrome 2 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Sick Sinus Syndrome 2

About this section


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:45 163800

Aliases & Classifications for Sick Sinus Syndrome 2

About this section

Sick Sinus Syndrome 2, Aliases & Descriptions:

Name: Sick Sinus Syndrome 2 45 10
 
Sick Sinus Syndrome 2, Autosomal Dominant 20 22


Classifications:

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


External Ids:

OMIM45 163800

Related Diseases for Sick Sinus Syndrome 2

About this section

Symptoms for Sick Sinus Syndrome 2

About this section

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

About this section

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

About this section

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

About this section

Animal Models for Sick Sinus Syndrome 2 or affiliated genes

About this section

Publications for Sick Sinus Syndrome 2

About this section

Variations for Sick Sinus Syndrome 2

About this section

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

62
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 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

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

Pathways for genes affiliated with Sick Sinus Syndrome 2

About this section

Compounds for genes affiliated with Sick Sinus Syndrome 2

About this section

GO Terms for genes affiliated with Sick Sinus Syndrome 2

About this section

Products for genes affiliated with Sick Sinus Syndrome 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sick Sinus Syndrome 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet