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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: | 783 | |
Name: | Primary ovarian failure | |
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.
✖FSH receptor | |
Comments: |
A D224V mutation in the extracellular domain of the receptor results in impaired targeting of the receptor to the cell membrane while a L601V mutation in the 3rd extracellular loop creates a receptor that bind ligands but has impaired signalling (Touraine et al., 1999). A P519T mutation in the 2nd extracellular loop of the receptor results in impaired targeting of the receptor to the cell membrane (Meduri et al., 2003). These mutations have been indentified in patients suffering from primary ovarian failure. An A419T mutation in the 2nd transmembrane domain results in abolished adenylyl cyclase signalling, although has no effect on ligand binding. This mutation has been identified in a patient suffering from primary ovarian failure (Doherty et al., 2002). |
References: | 1-3 |
Mutations: | FSH receptor is associated with 4 mutation. Click here for details |
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 Primary ovarian failure
1. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomäki K. (2002) A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab, 87: 1151-1155. [PMID:11889179]
2. Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, Kuttenn F, Misrahi M. (2003) Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab, 88 (8): 3491-8. [PMID:12915623]
3. Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR et al.. (1999) New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol, 13 (11): 1844-54. [PMID:10551778]