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spermatogenic failure 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 28

MONDO:0054732

Also known as:SPGF28

Overview

GeneticsAutosomal recessive · FANCM (chr 14)

ResearchLimited published research (8 articles)

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: Male infertility, Elevated circulating follicle stimulating hormone level, Decreased testicular size, and Non-obstructive azoospermia; and common findings: Elevated circulating luteinizing hormone level and Decreased serum testosterone concentration.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone level

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.

FANCM encodes FA complementation group M (2,048 aa). DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Highest expression in Testis (9.4 TPM) and Cells EBV-transformed lymphocytes (6.7 TPM).

Spermatogenic failure 28 is associated with mutations in the FANCM gene on chromosome 14.

The FANCM protein participates in FANCM:FAAP24 and APITD1:STRA13 bind ICL-DNA pathway.

FANCM is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

Genetic testing for FANCM 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 spermatogenic failure 28.

8 publications have been identified in PubMed for spermatogenic failure 28. Research spans Basic Science / Preclinical (63%), Review / Meta-Analysis (25%), and Clinical Trial Publication (13%).

Recent Publications

Atkins GR (2026). [PMID: 41756962](https://pubmed.ncbi.nlm.nih.gov/41756962/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Zhao XH (2026). [PMID: 41527958](https://pubmed.ncbi.nlm.nih.gov/41527958/). *Asian J Androl*. [Basic Science / Preclinical]
Tan C (2026). [PMID: 41706353](https://pubmed.ncbi.nlm.nih.gov/41706353/). *Journal of assisted reproduction and genetics*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]
Tsabai PN (2025). [PMID: 39932630](https://pubmed.ncbi.nlm.nih.gov/39932630/). *Journal of assisted reproduction and genetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618086

GARD

Genetic and Rare Diseases Info Center

GARD:16290

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 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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