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Ovarian dysgenesis 1; ODG1

Disease ID:725
Name:Ovarian dysgenesis 1; ODG1
Associated with:1 target
46,XX gonadal dysgenesis
Database Links
Disease Ontology: DOID:14450
OMIM: 233300
Orphanet: ORPHA243


FSH receptor
Comments:  An A189V substitution in the extracellular ligand-binding domain resulting in impaired trafficking to the cell membrane. This receptor variant has been identified in humans suffering from hypergonadotropic ovarian dysgenesis (ODG).
References:  1-3
Mutations:  FSH receptor is associated with 1 mutation. Click here for details


No ligand related data available for Ovarian dysgenesis 1; ODG1


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1. Aittomäki K, Herva R, Stenman UH, Juntunen K, Ylöstalo P, Hovatta O, de la Chapelle A. (1996) Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab, 81: 3722-3726. [PMID:8855829]

2. Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 82: 959-968. [PMID:7553856]

3. Rannikko A, Pakarinen P, Manna PR, Beau I, Misrahi M, Aittomäki K, Huhtaniemi I. (2002) Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Mol Hum Reprod, 8: 311-317. [PMID:11912278]