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premature ovarian failure 15 (POF15) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 15

MONDO:0054862

Also known as:POF15

Overview

GeneticsAutosomal recessive · FANCM (chr 14)

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: Irregular menstruation, Elevated circulating follicle stimulating hormone level, and Decreased circulating antimullerian hormone circulation; and common findings: Secondary amenorrhea and Oligomenorrhea.

Organ System	Phenotype Count	Example Features
Hormones	1	Secondary amenorrhea

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.

FANCM encodes FA complementation group M (2,048 aa). DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Highest expression in Testis (9.4 TPM) and Cells EBV-transformed lymphocytes (6.7 TPM).

Premature ovarian failure 15 is associated with mutations in the FANCM gene on chromosome 14.

The FANCM protein participates in FANCM:FAAP24 and APITD1:STRA13 bind ICL-DNA pathway.

FANCM is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for premature ovarian failure 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common 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 15.

103 publications have been identified in PubMed for premature ovarian failure 15. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Disease patterns and progression	36	35%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618096

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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Kisho

premature ovarian failure 15

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

Recent Publications

premature ovarian failure 15

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