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Ovarian hyperstimulation syndrome

Disease ID:726
Name:Ovarian hyperstimulation syndrome
Associated with:1 target
Database Links
Disease Ontology: DOID:5425
OMIM: 608115
Orphanet: ORPHA64739


FSH receptor
Comments:  A T449A mutation in the 3rd transmembrane results in a receptor with increased ligand sensitivity. This mutation has been identified in patients with ovarian hyperstimulation syndrome.
References:  1
Mutations:  FSH receptor is associated with 1 mutation. Click here for details


No ligand related data available for Ovarian hyperstimulation syndrome


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1. Montanelli L, Delbaere A, Di Carlo C, Nappi C, Smits G, Vassart G, Costagliola S. (2004) A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. J Clin Endocrinol Metab, 89 (4): 1255-8. [PMID:15080154]