Deafness, autosomal dominant 2A; DFNA2A
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: | 271 | |
| Name: | Deafness, autosomal dominant 2A; DFNA2A | |
| Associated with: | 1 target | |
| Synonyms |
| Autosomal dominant nonsyndromic deafness | Autosomal dominant non-syndromic sensorineural deafness type DFNA |
| Database Links |
|
Disease Ontology:
DOID:0050564 OMIM: 600101 Orphanet: ORPHA90635 |
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.
✖| Kv7.4 | |
| Role: | A form of sensorineural hearing loss. Loss of function mutations in KCNQ4 are a cause of non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2). Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. |
| References: | 1-2,4-6 |
| Mutations: | Kv7.4 is associated with 8 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
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- 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 Deafness, autosomal dominant 2A; DFNA2A
References
1. Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F et al.. (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet, 8 (7): 1321-8. [PMID:10369879]
2. Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell, 96 (3): 437-46. [PMID:10025409]
3. Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L et al.. (2008) A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. Hum Genet, 123 (1): 41-53. [PMID:18030493]
4. Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. (1999) Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat, 14 (6): 493-501. [PMID:10571947]
5. Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, Usami S. (2002) A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat, 20 (1): 15-9. [PMID:12112653]
6. Van Hauwe P, Coucke PJ, Ensink RJ, Huygen P, Cremers CW, Van Camp G. (2000) Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. Am J Med Genet, 93 (3): 184-7. [PMID:10925378]
