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premature ovarian failure 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 14

MONDO:0044777

Also known as:GDF9-related primary ovarian insufficiencyPOF14

Overview

GeneticsAutosomal recessive · GDF9 (chr 5)

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: Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, and Primary amenorrhea.

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.

GDF9 encodes growth differentiation factor 9 (454 aa). Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Highest expression in Testis (16.9 TPM) and Pituitary (2.6 TPM).

Premature ovarian failure 14 is associated with mutations in the GDF9 gene on chromosome 5.

GDF9 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 1.1.

Diagnosis

Genetic testing for GDF9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 14 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 14.

197 publications have been identified in PubMed for premature ovarian failure 14. Research spans Basic Science / Preclinical (35%), Review / Meta-Analysis (34%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Laboratory research	69	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618014

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 14

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

Latest News & Developments

SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.

premature ovarian failure 14

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

Latest News & Developments

SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.