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ovarian dysgenesis 6 (ODG6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ovarian dysgenesis 6

MONDO:0054850

Also known as:ODG6

Overview

GeneticsAutosomal recessive · NUP107 (chr 12)

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: Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, and Primary amenorrhea.

Organ System	Phenotype Count	Example Features
Hormones	3	Hypergonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea

Explore clinical features

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.

NUP107 encodes nucleoporin 107 (925 aa). Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC. Involved in nephrogenesis Highest expression in Cells EBV-transformed lymphocytes (28.5 TPM) and Testis (21.7 TPM).

Ovarian dysgenesis 6 is associated with mutations in the NUP107 gene on chromosome 12.

NUP107 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for NUP107 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ovarian dysgenesis 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 6.

94 publications have been identified in PubMed for ovarian dysgenesis 6. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (22%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Research summaries	25	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618078

GARD

Genetic and Rare Diseases Info Center

GARD:18042

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 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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