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premature ovarian failure 12 (POF12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 12

MONDO:0014844

Also known as:POF12SYCE1 primary ovarian failurepremature ovarian failure 12; POF12

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.

GeneticsAutosomal recessive · SYCE1 (chr 10)

Clinical Presentation

Features include: Microphthalmia, Macular dystrophy, and Primary amenorrhea.

Organ System	Phenotype Count	Example Features
Eyes	1	Macular dystrophy
Hormones	1	Primary amenorrhea

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Genetic Landscape

SYCE1 function has not been fully characterized.

Premature ovarian failure 12 is associated with mutations in the SYCE1 gene on chromosome 10.

Diagnosis

Genetic testing for SYCE1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 12 has been reported in the published literature.

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 12.

117 publications have been identified in PubMed for premature ovarian failure 12. Research spans Epidemiology / Natural History (35%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	41	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616947

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 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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