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premature ovarian failure 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 23

MONDO:0958035

Overview

GeneticsAutosomal recessive · MEIOB (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced antral follicle count, Female infertility, Elevated circulating follicle stimulating hormone level, and Decreased circulating antimullerian hormone circulation; and common findings: Secondary amenorrhea and Oligomenorrhea.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Female infertility

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MEIOB encodes meiosis specific with OB-fold (442 aa). Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Highest expression in Testis (74.8 TPM) and Skin Not Sun Exposed Suprapubic (0.5 TPM).

Premature ovarian failure 23 is associated with mutations in the MEIOB gene on chromosome 16.

MEIOB is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 2 common features.

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 premature ovarian failure 23.

53 publications have been identified in PubMed for premature ovarian failure 23. Research spans Epidemiology / Natural History (42%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	22	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620686

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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premature ovarian failure 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

premature ovarian failure 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications