Long QT syndrome 3; LQT3
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: | 566 | |
| Name: | Long QT syndrome 3; LQT3 | |
| Associated with: | 1 target | |
| Synonyms |
| Long QT syndrome | Romano-Ward syndrome |
| Database Links |
|
Disease Ontology:
DOID:2843 OMIM: 603830 Orphanet: ORPHA101016 |
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: | Nav1.5 is the site of mutations in long QT Syndrome type 3, an inherited cardic arrhythmia. More than 40 mutations cause LQT-3. They cause a gain of function impairing fast inactivation of sodium channels, by negatively shifting the voltage dependence of activation, or both. |
| Drugs: | Treated with mexiletine and other sodium channel-blocking antiarrhythmic drugs. Treatment success is correlated with the functional effects of individual mutations. |
| References: | 5-6,9 |
| Mutations: | Nav1.5 is associated with 9 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 Long QT syndrome 3; LQT3
References
1. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA, 286 (18): 2264-9. [PMID:11710892]
2. Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL, Roden DM. (2008) The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest, 118 (6): 2219-29. [PMID:18451998]
3. Makita N, Shirai N, Nagashima M, Matsuoka R, Yamada Y, Tohse N, Kitabatake A. (1998) A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett, 423 (1): 5-9. [PMID:9506831]
4. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS. (2001) Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem, 276 (33): 30623-30. [PMID:11410597]
5. Ruan Y, Liu N, Bloise R, Napolitano C, Priori SG. (2007) Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation, 116 (10): 1137-44. [PMID:17698727]
6. Ruan Y, Liu N, Priori SG. (2009) Sodium channel mutations and arrhythmias. Nat Rev Cardiol, 6 (5): 337-48. [PMID:19377496]
7. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R. (2000) A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med, 343 (4): 262-7. [PMID:10911008]
8. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT. (1995) Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet, 4 (9): 1603-7. [PMID:8541846]
9. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell, 80 (5): 805-11. [PMID:7889574]
10. Wei J, Wang DW, Alings M, Fish F, Wathen M, Roden DM, George AL. (1999) Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation, 99 (24): 3165-71. [PMID:10377081]
