Sick sinus syndrome 1, autosomal recessive; SSS1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 860 | |
| Name: | Sick sinus syndrome 1, autosomal recessive; SSS1 | |
| Associated with: | 1 target | |
| Synonyms |
| Familial sick sinus syndrome | Sick sinus syndrome | Sick sinus syndrome, congenital | Sinus bradycardia syndrome, familial | Sinus node disease, familial, autosomal recessive | Sinus rhythm, congenital absence of |
| Database Links |
|
Disease Ontology:
DOID:13884 OMIM: 608567 Orphanet: ORPHA166282 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| Nav1.5 | |
| Role: | The proposed mechanism is failure of action potential initiaion at the border of sinoatrial node and atrium. Missense mutations cause loss-of-function and/or loss of functional expression. Truncation mutations also cause loss of expression. |
| Comments: | A list of example missense mutations whose functional effects are established is given below. Additional truncation mutations also cause loss-of-function, and additional missense mutations have been identified but not functionally characterized. |
| References: | 4 |
| Mutations: | Nav1.5 is associated with 8 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Sick sinus syndrome 1, autosomal recessive; SSS1
References
1. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George Jr AL. (2003) Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest, 112 (7): 1019-28. [PMID:14523039]
2. Makita N, Sasaki K, Groenewegen WA, Yokota T, Yokoshiki H, Murakami T, Tsutsui H. (2005) Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm, 2 (10): 1128-34. [PMID:16188595]
3. Makiyama T, Akao M, Tsuji K, Doi T, Ohno S, Takenaka K, Kobori A, Ninomiya T, Yoshida H, Takano M et al.. (2005) High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol, 46 (11): 2100-6. [PMID:16325048]
4. Ruan Y, Liu N, Priori SG. (2009) Sodium channel mutations and arrhythmias. Nat Rev Cardiol, 6 (5): 337-48. [PMID:19377496]
5. Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MM, Balser JR, Tan HL, Bezzina CR et al.. (2005) A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol, 38 (6): 969-81. [PMID:15910881]
