|
ODG6
MCID: OVR118
MIFTS: 17
|
Ovarian Dysgenesis 6 (ODG6)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
|
|
|
|
MalaCards integrated aliases for Ovarian Dysgenesis 6:Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
male fertility does not appear to be affected based on report of one palestinian family (last curated august 2018) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Endocrine diseases Reproductive diseases |
|
OMIM® :
57
Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015).
For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). (618078) (Updated 20-May-2021)
MalaCards based summary : Ovarian Dysgenesis 6, is also known as odg6. An important gene associated with Ovarian Dysgenesis 6 is NUP107 (Nucleoporin 107). Affiliated tissues include uterus, and related phenotype is hypoplasia of the uterus. Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the NUP107 gene on chromosome 12q15. UniProtKB/Swiss-Prot : 72 Ovarian dysgenesis 6: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition. |
Diseases in the Ovarian Dysgenesis 1 family:
|
Human phenotypes related to Ovarian Dysgenesis 6:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618078 (Updated 20-May-2021) |
|
|
MalaCards organs/tissues related to Ovarian Dysgenesis 6:40
Uterus
|
Articles related to Ovarian Dysgenesis 6:
|
Genes related to Ovarian Dysgenesis 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Ovarian Dysgenesis 6:6
UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 6:72
|
|
Search
GEO
for disease gene expression data for Ovarian Dysgenesis 6.
|
|
|
|