Oocyte maturation defect 6

Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6

Summary

Oocyte/zygote/embryo maturation arrest-6 (OZEMA6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai et al., 2019). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ZP2
7 tests
Also known as: OOMD6, OZEMA6, ZPA, Zp-2, ZP2
Summary: zona pellucida glycoprotein 2

Imported from Human Phenotype Ontology (HPO)

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Abnormal cellular phenotype
- Thin zona pellucida
  Thin zona pellucida
  - MedGen UID: 1700315
  - Concept ID: C5209250
  - Finding: Finding
  Abnormal cellular phenotype
  See: Feature record | Search on this feature
Abnormality of the genitourinary system
- Female infertility
  Female infertility
  - MedGen UID: 5795
  - Concept ID: C0021361
  - Finding: Pathologic Function
  Abnormality of the genitourinary system
  See: Feature record | Search on this feature

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