Ovarian Dysgenesis 2 (ODG2)

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Disease Ontology 12 DOID:0080494 OMIM 57 300510 PS233300 PS311360 MeSH 44 D016649 D023961

MedGen 42 C1845294 C1845295 UMLS 72 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, ovary and bone, and related phenotypes are delayed puberty and premature ovarian insufficiency

Disease Ontology : ¹² A 46 XX gonadal dysgenesis that has material basis in mutation in the BMP15 gene on chromosome Xp11.

UniProtKB/Swiss-Prot : ⁷⁴ 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.