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ovarian dysgenesis 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 3

MONDO:0013689

Also known as:46 XX gonadal dysgenesis caused by mutation in PSMC3IPPSMC3IP 46 XX gonadal dysgenesisovarian dysgenesis type 3

Overview

Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.

GeneticsAutosomal recessive · PSMC3IP (chr 17)

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: Aplasia of the ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Delayed puberty and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Female infertility, Delayed puberty, Primary amenorrhea

Genetic Landscape

PSMC3IP function has not been fully characterized.

Ovarian dysgenesis 3 is associated with mutations in the PSMC3IP gene on chromosome 17.

Diagnosis

Genetic testing for PSMC3IP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ovarian dysgenesis 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 ovarian dysgenesis 3.

106 publications have been identified in PubMed for ovarian dysgenesis 3. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (24%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	31	29%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614324

GARD

Genetic and Rare Diseases Info Center

GARD:18041

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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ovarian dysgenesis 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ovarian dysgenesis 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications