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premature ovarian failure 13 (POF13) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 13

MONDO:0044317

Also known as:POF13

Overview

GeneticsAutosomal recessive · MSH5 (chr 6)

OnsetADULT, JUVENILE

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: Hypoplasia of the uterus, Amenorrhea, Female infertility, and Elevated circulating follicle stimulating hormone level and others.

Organ System	Phenotype Count	Example Features
Hormones	2	Amenorrhea, Female infertility

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.

MSH5 encodes mutS homolog 5 (834 aa). Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis

Premature ovarian failure 13 is associated with mutations in the MSH5 gene on chromosome 6.

The MSH5 protein participates in Formation of meiotic holliday junction, Resolution of meiotic holliday junction, and Meiotic recombination pathways.

MSH5 is classified as a druggable target with score 0.6.

Diagnosis

Genetic testing for MSH5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 13.

68 publications have been identified in PubMed for premature ovarian failure 13. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (41%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Research summaries	12	41%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617442

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 13

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 13

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