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spermatogenic failure 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 22

MONDO:0054726

Also known as:SPGF22

Overview

GeneticsAutosomal recessive · MEIOB (chr 16)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include always present findings: Male infertility; and common findings: Non-obstructive azoospermia. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

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).

Spermatogenic failure 22 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: 1 always present feature, 1 common feature.

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 spermatogenic failure 22.

8 publications have been identified in PubMed for spermatogenic failure 22. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (38%), and Case Report / Case Series (13%).

Recent Publications

Wang X (2026). [PMID: 41555377](https://pubmed.ncbi.nlm.nih.gov/41555377/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Balde-Camara A (2026). [PMID: 41706354](https://pubmed.ncbi.nlm.nih.gov/41706354/). *J Assist Reprod Genet*. [Case Report / Case Series]
Lin M (2025). [PMID: 40418379](https://pubmed.ncbi.nlm.nih.gov/40418379/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Xiong X (2025). [PMID: 39921484](https://pubmed.ncbi.nlm.nih.gov/39921484/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617706

GARD

Genetic and Rare Diseases Info Center

GARD:16245

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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spermatogenic failure 22

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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