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oocyte maturation defect 8 (OOMD8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oocyte maturation defect 8

MONDO:0033564

Also known as:OOMD8

Overview

GeneticsAutosomal recessive · BTG4 (chr 11)

Clinical Presentation

Features include always present findings: Female infertility and Zygotic cleavage failure. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

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.

BTG4 encodes BTG anti-proliferation factor 4 (223 aa). Adapter protein that bridges CNOT7, a catalytic subunit of the CCR4-NOT complex, to EIF4E. Highest expression in Testis (29.2 TPM) and Lung (0.1 TPM).

Oocyte maturation defect 8 is associated with mutations in the BTG4 gene on chromosome 11.

The BTG4 protein participates in mRNP regulated by BTG4 and deadenylated mRNP regulated by BTG4 pathways.

BTG4 is classified as a druggable target (Tumor Suppressor category) with score 0.0.

Diagnosis

Genetic testing for BTG4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 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 oocyte maturation defect 8.

31 publications have been identified in PubMed for oocyte maturation defect 8. Research spans Basic Science / Preclinical (65%), Epidemiology / Natural History (16%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Laboratory research	20	65%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619009

GARD

Genetic and Rare Diseases Info Center

GARD:18498

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 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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