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ovarian dysgenesis 8 (ODG8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 8

MONDO:0032590

Also known as:ODG8

Overview

GeneticsAutosomal dominant · ESR2 (chr 14)

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: Weak and brittle bones (osteoporosis), Elevated circulating luteinizing hormone level, Eunuchoid habitus, and Elevated circulating follicle stimulating hormone level and others.

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.

ESR2 encodes estrogen receptor 2 (530 aa). Nuclear hormone receptor. Highest expression in Ovary (4.6 TPM) and Testis (3.9 TPM).

Ovarian dysgenesis 8 is associated with mutations in the ESR2 gene on chromosome 14.

ESR2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 1.8.

Diagnosis

Genetic testing for ESR2 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Phenotype severity distribution: 8 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 8.

69 publications have been identified in PubMed for ovarian dysgenesis 8. Research spans Epidemiology / Natural History (30%), Review / Meta-Analysis (20%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	21	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618187

Questions for Your Care Team

→Should I pursue genetic testing for ESR2, 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?

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Kisho

ovarian dysgenesis 8

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

ovarian dysgenesis 8

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