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ovarian dysgenesis 7 (ODG7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 7

MONDO:0020857

Also known as:ODG7

Overview

GeneticsAutosomal recessive · MRPS22 (chr 3)

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 common findings: Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level, and Decreased serum estradiol. 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

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.

MRPS22 encodes mitochondrial ribosomal protein S22 (360 aa). Highest expression in Adrenal Gland (36.1 TPM) and Cells Cultured fibroblasts (35.5 TPM).

Ovarian dysgenesis 7 is associated with mutations in the MRPS22 gene on chromosome 3.

MRPS22 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MRPS22 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ovarian dysgenesis 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 7.

63 publications have been identified in PubMed for ovarian dysgenesis 7. Research spans Epidemiology / Natural History (35%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	22	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618117

GARD

Genetic and Rare Diseases Info Center

GARD:18043

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 7

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 7

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