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premature ovarian failure 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 8

MONDO:0014321

Also known as:STAG3 primary ovarian failurepremature ovarian failure type 8primary ovarian failure caused by mutation in STAG3

Overview

Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.

GeneticsAutosomal recessive · STAG3 (chr 7)

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, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Streak ovary and others; and very common findings: Primary amenorrhea. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level

Genetic Landscape

STAG3 function has not been fully characterized.

Premature ovarian failure 8 is associated with mutations in the STAG3 gene on chromosome 7.

Diagnosis

Genetic testing for STAG3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature.

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 8.

128 publications have been identified in PubMed for premature ovarian failure 8. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Disease patterns and progression	49	38%

Data assembled from 5 of 12 sources · Last updated Nov 2, 2026, 8:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615723

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 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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premature ovarian failure 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications