ODG2
MCID: OVR076
MIFTS: 23
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Ovarian Dysgenesis 2 (ODG2)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Ovarian Dysgenesis 2:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Reproductive diseases Endocrine diseases |
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 delayed puberty and premature ovarian insufficiency 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300510Human phenotypes related to Ovarian Dysgenesis 2:32 (show all 9)
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MalaCards organs/tissues related to Ovarian Dysgenesis 2:41
Uterus,
Ovary
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UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 2:75 (show all 13)
ClinVar genetic disease variations for Ovarian Dysgenesis 2:6
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Search
GEO
for disease gene expression data for Ovarian Dysgenesis 2.
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