Details of Disease | DrugMAP

General Information of Disease (ID: DIS27KD8)

Disease Name	Premature ovarian failure 10
Synonyms	Pof10; menopause, natural, Age At, quantitative trait locus 3; premature ovarian failure 10
Definition	Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).
Disease Hierarchy	DIS4V9SY: Inherited primary ovarian failure DIS27KD8: Premature ovarian failure 10
Disease Identifiers	MONDO ID MONDO_0044776 UMLS CUI C4225402 OMIM ID 612885 MedGen ID 898849

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCM8	OTC93H3S	Strong	Autosomal recessive	[1]
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References

1	MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination. Mol Cell. 2012 Aug 24;47(4):523-34. doi: 10.1016/j.molcel.2012.05.048. Epub 2012 Jul 5.