Female infertility

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Female infertility due to oocyte meiotic arrest

ORPHA:488191Disease

What it is

A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.

Key facts

Age of onset
Adolescent, Adult
Inheritance
Autosomal recessive
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CDC20Disease-causing germline mutation(s)
CHEK1Disease-causing germline mutation(s)
FBXO43Disease-causing germline mutation(s)
KPNA7Disease-causing germline mutation(s)
MOSDisease-causing germline mutation(s)
NLRP2Disease-causing germline mutation(s)
NLRP5Disease-causing germline mutation(s)
NLRP7Disease-causing germline mutation(s)
PADI6Disease-causing germline mutation(s)
PANX1Disease-causing germline mutation(s) (gain of function)
PATL2Disease-causing germline mutation(s) (loss of function)
TLE6Disease-causing germline mutation(s)
TUBB8Disease-causing germline mutation(s)
WEE2Disease-causing germline mutation(s) (loss of function)
ZFP36L2Disease-causing germline mutation(s)

ICD-10 codes

N97.8filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0044626OMIM 616780OMIM 616814OMIM 617234OMIM 617743OMIM 617996OMIM 618550OMIM 619009OMIM 619011OMIM 619176OMIM 619697OMIM 620154OMIM 620319OMIM 620332OMIM 620333OMIM 620383OMIM 620610OMIM 621471UMLS C5567489

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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