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premature ovarian failure 18 (POF18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 18

MONDO:0030939

Also known as:POF18

Overview

GeneticsAutosomal recessive · C14ORF39 (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: Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, and Secondary amenorrhea 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

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.

C14ORF39 encodes chromosome 14 open reading frame 39 (587 aa). Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Highest expression in Pituitary (9.4 TPM) and Testis (9.3 TPM).

Premature ovarian failure 18 is associated with mutations in the C14ORF39 gene on chromosome 14.

C14ORF39 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for C14ORF39 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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 18.

87 publications have been identified in PubMed for premature ovarian failure 18. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Disease patterns and progression	27	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619203

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 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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premature ovarian failure 18

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