Oocyte/zygote/embryo maturation arrest 17(OZEMA17)

MedGen UID:: 1841054
•Concept ID:: C5830418
•: Disease or Syndrome

Synonym:	OZEMA17

Gene (location): Gene(s) directly associated with this condition or phenotype.	KPNA7 (7q22.1)

Monarch Initiative:	MONDO:0957220
OMIM®:	620319

Definition

Oocyte/zygote/embryo maturation arrest-17 (OZEMA17) is characterized by female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation (Wang et al., 2023). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO

Amenorrhea

MedGen UID:: 8016
•Concept ID:: C0002453
•: Finding

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.

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Female infertility

MedGen UID:: 5795
•Concept ID:: C0021361
•: Pathologic Function

Infertility in a woman.

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Abnormality of the genitourinary system
- Amenorrhea
- Female infertility

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Inherited oocyte maturation defect
- Oocyte/zygote/embryo maturation arrest 17

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Oocyte/zygote/embryo maturation arrest 17(OZEMA17)

Definition

Clinical features

Term Hierarchy

Supplemental Content

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Genetic Testing Registry

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Molecular resources

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Reviews

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