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oocyte maturation defect 2 (OOMD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oocyte maturation defect 2

MONDO:0021573

Also known as:OOMD2TUBB8 inherited oocyte maturation defectinherited oocyte maturation defect caused by mutation in TUBB8

Overview

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.

GeneticsAutosomal recessive, Autosomal dominant · TUBB8 (chr 10)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Metaphase I oocyte maturation arrest. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

Explore clinical features

Genetic Landscape

TUBB8 function has not been fully characterized.

Oocyte maturation defect 2 is associated with mutations in the TUBB8 gene on chromosome 10.

Diagnosis

Genetic testing for TUBB8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 oocyte maturation defect 2.

3 publications have been identified in PubMed for oocyte maturation defect 2. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Chen B (2026). [PMID: 41005306](https://pubmed.ncbi.nlm.nih.gov/41005306/). *Cell Genom*. [Basic Science / Preclinical]
Luo H (2025). [PMID: 39834092](https://pubmed.ncbi.nlm.nih.gov/39834092/). *Clin Transl Med*. [Gene Therapy / Novel Therapeutics]
Voros C (2025). [PMID: 40650169](https://pubmed.ncbi.nlm.nih.gov/40650169/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616780

GARD

Genetic and Rare Diseases Info Center

GARD:18496

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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oocyte maturation defect 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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