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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 (10): 3722-6. [PMID:8855829]

2. Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR et al.. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 82 (6): 959-68. [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 (4): 311-7. [PMID:11912278]