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premature ovarian failure 10 (Pof10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 10

MONDO:0044776

Also known as:Pof10menopause, natural, Age At, quantitative trait locus 3

Overview

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).

GeneticsAutosomal recessive · MCM8 (chr 20)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Hypothyroidism and 4 more.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MCM8 encodes minichromosome maintenance 8 homologous recombination repair factor (840 aa). Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR). Highest expression in Cells EBV-transformed lymphocytes (19.2 TPM) and Testis (15.8 TPM).

Premature ovarian failure 10 is associated with mutations in the MCM8 gene on chromosome 20.

The MCM8 protein participates in MCM8 mediated fork unwinding, CDC6 association with ORC(1-6) at replication origins, and Orc2 associated with MCM8 pathways.

MCM8 is classified as a druggable target (Enzyme category) with score 52.2.

Diagnosis

Genetic testing for MCM8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 10 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for premature ovarian failure 10.

149 publications have been identified in PubMed for premature ovarian failure 10. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	50	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612885

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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premature ovarian failure 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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premature ovarian failure 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications