Ovarian Dysgenesis 2

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OMIM 57 300510 MedGen 42 C1845294 C1845295 MeSH 44 D023961 D016649

SNOMED-CT via HPO 69 263681008 35850006 37849005 8913004 370999003 123526007 400003000 86030004 399939002 373717006 more UMLS 73 C1845294 C1845295

OMIM : ⁵⁷ Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000). (300510)

MalaCards based summary : Ovarian Dysgenesis 2, is also known as premature ovarian failure 4. An important gene associated with Ovarian Dysgenesis 2 is BMP15 (Bone Morphogenetic Protein 15). Affiliated tissues include uterus and ovary, and related phenotypes are hypoplasia of the uterus and abnormality of the uterus

UniProtKB/Swiss-Prot : ⁷⁵ Ovarian dysgenesis 2: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Premature ovarian failure 4: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.

Clinical features from OMIM:

300510

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 2

Search GEO for disease gene expression data for Ovarian Dysgenesis 2.