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female infertility due to zona pellucida defect (OOMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

female infertility due to zona pellucida defect

MONDO:0014342

Also known as:OOMDOOMD1oocyte maturation defect

Overview

Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.

GeneticsAutosomal recessive · ZP1 (chr 11)

Clinical Presentation

Features include always present findings: Female infertility and Absent zona pellucida.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

Explore clinical features

Genetic Landscape

ZP1 function has not been fully characterized.

Female infertility due to zona pellucida defect is associated with mutations in the ZP1 gene on chromosome 11.

Diagnosis

Genetic testing for ZP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 female infertility due to zona pellucida defect.

119 publications have been identified in PubMed for female infertility due to zona pellucida defect. Kisho has analyzed 28 by research type. Research spans Basic Science / Preclinical (46%), Review / Meta-Analysis (29%), and Case Report / Case Series (7%).

Research Type	Count	% of Total
Laboratory research	13	46%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615774

Orphanet

European rare disease database

Orphanet:404466

GARD

Genetic and Rare Diseases Info Center

GARD:17675

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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female infertility due to zona pellucida defect

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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