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premature ovarian failure 17 (POF17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 17

MONDO:0030870

Also known as:POF17

Overview

GeneticsAutosomal recessive · XRCC2 (chr 7)

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 always present findings: Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Decreased circulating inhibin B concentration and others.

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

Genetic Landscape

XRCC2 function has not been fully characterized.

Premature ovarian failure 17 is associated with mutations in the XRCC2 gene on chromosome 7.

Diagnosis

Genetic testing for XRCC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features.

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 17.

91 publications have been identified in PubMed for premature ovarian failure 17. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Disease patterns and progression	37	41%

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:619146

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 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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premature ovarian failure 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications