Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

premature ovarian failure 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 3

MONDO:0012169

Also known as:premature ovarian failure type 3Pof3

Overview

GeneticsAutosomal dominant · FOXL2 (chr 3)

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: Premature ovarian insufficiency, Hypoplasia of the uterus, and Secondary amenorrhea.

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.

FOXL2 encodes forkhead box L2 (376 aa). Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Highest expression in Ovary (102.0 TPM) and Cervix Endocervix (31.4 TPM).

Premature ovarian failure 3 is associated with mutations in the FOXL2 gene on chromosome 3.

The FOXL2 protein participates in UBE2I (UBC9), PIAS1 SUMOylate FOXL2 with SUMO1, DMRT1:FOXL2 gene, and Transcriptional regulation of testis differentiation pathways.

FOXL2 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 2.1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) have been published.

Suggestive Findings

BPES should be suspected in individuals with the following clinical findings and family history. Major clinical findings, all present at birth:

Blepharophimosis. Narrowing of the horizontal aperture of the eyelids

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for premature ovarian failure 3. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with BPES, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with BPES

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4.

Recommended Surveillance for Individuals with BPES

System/Concern | Evaluation | Frequency

Eyelid

malformation | Ophthalmic follow up | Based on person's age, past procedures, results of visual acuity testing

POI | • Endocrinologic gynecologic follow up to monitor ovarian status

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 3.

207 publications have been identified in PubMed for premature ovarian failure 3. Kisho has analyzed 55 by research type. Research spans Review / Meta-Analysis (44%), Basic Science / Preclinical (35%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Research summaries	24	44%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608996

Questions for Your Care Team

→Should I pursue genetic testing for FOXL2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

System/Concern	Evaluation	Comment
malformation	Exam byophthalmologist oculoplasticsurgeon	Assess for size of palpebral apertures, lacrimal duct abnormality, eyelid elevation. Vision
POI	Eval by pediatricianor endocrinologist/gynecologist	For females w/BPES during late childhood or early puberty to assess gonadal function assess/discuss onset course of POI; See also . Genetic
counseling	By geneticsprofessionals1	To inform affected persons their families re nature, MOI, implications of BPES to facilitate medical personal decision making; In females w/BPES, family history can indicate type of BPES (type I inferred by assoc w/subfertility or infertility).
Treatment of Manifestations in Individuals with BPES Manifestation/Concern	Treatment	Considerations/Other
Eyelid malformation	Surgery	Traditionally performed in 2 stages:; Age 3-5 yrs: medial canthoplasty for correction of blepharophimosis, epicanthus inversus, telecanthus; ~1 yr later: ptosis correction, usually requiring brow suspension procedure
POI	Standard mgmt for POI (not specific to BPES)1	Typically consisting of:; Hormone replacement therapy; Monitoring optimizing bone health; Eval of options for parenthood (adoption, foster parenthood, embryo donation, egg donation, ovary cryopreservation) Psychological support is important. POI = primary ovarian insufficiency 1.
Recommended Surveillance for Individuals with BPES System/Concern	Evaluation	Frequency Eyelid
malformation	Ophthalmic follow up	Based on person's age, past procedures, results of visual acuity testing POI

Kisho

premature ovarian failure 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

premature ovarian failure 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications