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Atrial fibrillation, familial, 7; ATFB7

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.

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Disease ID:99
Name:Atrial fibrillation, familial, 7; ATFB7
Associated with:1 target
Synonyms
Familial atrial fibrillation
Database Links
Disease Ontology: DOID:0050650
OMIM: 612240
Orphanet: ORPHA334

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.

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Key to terms and symbols
Kv1.5
Therapeutic use:  Potential use in management of atrial fibrillation, via blockade of IKur
References:  1,4
Mutations:  Kv1.5 is associated with 11 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.

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No ligand related data available for Atrial fibrillation, familial, 7; ATFB7

References

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1. Brundel BJ, Van Gelder IC, Henning RH, Tuinenburg AE, Wietses M, Grandjean JG, Wilde AA, Van Gilst WH, Crijns HJ. (2001) Alterations in potassium channel gene expression in atria of patients with persistent and paroxysmal atrial fibrillation: differential regulation of protein and mRNA levels for K+ channels. J Am Coll Cardiol, 37 (3): 926-32. [PMID:11693772]

2. Christophersen IE, Olesen MS, Liang B, Andersen MN, Larsen AP, Nielsen JB, Haunsø S, Olesen SP, Tveit A, Svendsen JH et al.. (2013) Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. Eur Heart J, 34 (20): 1517-25. [PMID:23264583]

3. Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A, Terzic A. (2006) Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet, 15 (14): 2185-91. [PMID:16772329]

4. Van Wagoner DR, Pond AL, McCarthy PM, Trimmer JS, Nerbonne JM. (1997) Outward K+ current densities and Kv1.5 expression are reduced in chronic human atrial fibrillation. Circ Res, 80 (6): 772-81. [PMID:9168779]

5. Yang T, Yang P, Roden DM, Darbar D. (2010) Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation. Heart Rhythm, 7 (9): 1246-52. [PMID:20638934]

6. Yang Y, Li J, Lin X, Yang Y, Hong K, Wang L, Liu J, Li L, Yan D, Liang D et al.. (2009) Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet, 54 (5): 277-83. [PMID:19343045]