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ODG6
MCID: OVR118
MIFTS: 18
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Ovarian Dysgenesis 6 (ODG6)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Ovarian Dysgenesis 6:Characteristics:OMIM:56
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 |
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OMIM :
56
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)
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 ovary, 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 : 73 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:
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Human phenotypes related to Ovarian Dysgenesis 6:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618078 |
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MalaCards organs/tissues related to Ovarian Dysgenesis 6:40
Uterus,
Ovary
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Articles related to Ovarian Dysgenesis 6:
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Genes related to Ovarian Dysgenesis 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ovarian Dysgenesis 6:6
UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 6:73
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Search
GEO
for disease gene expression data for Ovarian Dysgenesis 6.
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