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ovarian dysgenesis 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 11

MONDO:0971176

Overview

GeneticsAutosomal recessive · HROB (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; and common findings: Delayed menarche and Primary amenorrhea.

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.

HROB encodes homologous recombination factor with OB-fold (647 aa). DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis. Highest expression in Testis (30.2 TPM) and Cells EBV-transformed lymphocytes (15.4 TPM).

Ovarian dysgenesis 11 is associated with mutations in the HROB gene on chromosome 17.

HROB is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for ovarian dysgenesis 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 2 common 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 11.

50 publications have been identified in PubMed for ovarian dysgenesis 11. Research spans Epidemiology / Natural History (22%), Review / Meta-Analysis (20%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	11	22%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620897

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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Kisho

ovarian dysgenesis 11

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 11

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