Details of Disease

General Information of Disease (ID: DIST09IB)

Disease Name Ovarian dysfunction
Synonyms ovarian insufficiency; ovarian hypofunction; ovarian failure
Definition The inability of the ovaries to function.
Disease Hierarchy
DISHZX9D: Ovarian disorder
DIST09IB: Ovarian dysfunction
Disease Identifiers
MONDO ID
MONDO_0001889
UMLS CUI
C0154208
MedGen ID
509544
SNOMED CT ID
37102008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FSHR TTZFDBT Disputed Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FMR1 OTWEV0T5 Strong Biomarker [2]
FOXL2 OTFRQUYL Strong Genetic Variation [3]
MRPS22 OTIVNAJL Strong Biomarker [4]
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References

1 A distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in Ukraine.J Assist Reprod Genet. 2009 Jan;26(1):29-34. doi: 10.1007/s10815-008-9279-1. Epub 2008 Nov 25.
2 Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency.Methods Mol Biol. 2019;1942:165-171. doi: 10.1007/978-1-4939-9080-1_14.
3 Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.J Reprod Dev. 2014 Mar 7;60(1):14-20. doi: 10.1262/jrd.2013-090. Epub 2013 Nov 15.
4 Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098.