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ovarian dysgenesis 1 (ODG1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 1

MONDO:0024463

Also known as:ODG1XX gonadal dysgenesisXXGD

Overview

GeneticsAutosomal recessive · FSHR (chr 2)

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: Weak and brittle bones (osteoporosis), Gonadal dysgenesis, Increased circulating gonadotropin level, and Primary amenorrhea.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Weak and brittle bones (osteoporosis)

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.

FSHR encodes follicle stimulating hormone receptor (695 aa). G protein-coupled receptor for follitropin, the follicle-stimulating hormone. Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways Highest expression in Testis (3.1 TPM) and Ovary (0.8 TPM).

Ovarian dysgenesis 1 is associated with mutations in the FSHR gene on chromosome 2.

FSHR is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 26.1.

Diagnosis

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

Biomarker and diagnostic research for ovarian dysgenesis 1 has been reported in the published literature.

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 1.

206 publications have been identified in PubMed for ovarian dysgenesis 1. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	57	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:233300

GARD

Genetic and Rare Diseases Info Center

GARD:18039

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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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