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GENATLAS PHENOTYPE |
last update : 19-10-2011 |
Symbol | XXGD |
Location | 17q21.31 |
Name | XX gonadal dysgenesis |
Corresponding gene | PSMC3IP |
Main clinical features | lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads PMID: 21963259 |
Genetic determination | autosomal recessive |
Function/system disorder | sex-genitalia |
Type | other |
Gene product |
Name | coactivator of Estrogen-Driven Transcription |
Remark(s) | by analogy to other XX-GD genes (FSH receptors, BMP15,...), PSMC3IP is also a candidate gene for premature ovarian failure |