Top ▲
This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 531 | |
Name: | Klinefelter syndrome | |
Associated with: | 1 target |
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.
✖Androgen receptor | |
Comments: | Klinefelter syndrome (47, XXY - hypogonadism) is the most common chromosome aneuploidy in men and is usually characterized by underdeveloped testes and sterility. Skewed inactivation of the X-chromosome appears to contribute by reducing AR expression. |
References: | 1-2 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Klinefelter syndrome
1. Iitsuka Y, Bock A, Nguyen DD, Samango-Sprouse CA, Simpson JL, Bischoff FZ. (2001) Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet, 98 (1): 25-31. [PMID:11426451]
2. Kotula-Balak M, Bablok L, Fracki S, Jankowska A, Bilińska B. (2004) Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome. Folia Histochem Cytobiol, 42 (4): 215-20. [PMID:15704647]