female infertility due to zona pellucida defect
Findings
No curated finding names female infertility due to zona pellucida defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014342), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent zona pellucidaHPOHP:6000328
- 2 of 2 reported patients
- Female infertilityHPOHP:0008222
- 4 of 4 reported patients
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZP1HGNC:13187
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- ZP2HGNC:13188
- Supportive · Orphanet · Autosomal dominant · 2021
- ZP3HGNC:13189
- Supportive · Orphanet · Autosomal dominant · 2021