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spermatogenic failure 52 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 52

MONDO:0030938

Also known as:SPGF52

Overview

GeneticsAutosomal recessive · C14ORF39 (chr 14)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Male infertility and Azoospermia.

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.

C14ORF39 encodes chromosome 14 open reading frame 39 (587 aa). Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Highest expression in Pituitary (9.4 TPM) and Testis (9.3 TPM).

Spermatogenic failure 52 is associated with mutations in the C14ORF39 gene on chromosome 14.

C14ORF39 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for C14ORF39 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 52.

6 publications have been identified in PubMed for spermatogenic failure 52. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Caroppo E (2026). [PMID: 40220323](https://pubmed.ncbi.nlm.nih.gov/40220323/). *Andrology*. [Case Report / Case Series]
Li K (2026). [PMID: 41168986](https://pubmed.ncbi.nlm.nih.gov/41168986/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Zhou F (2025). [PMID: 41401169](https://pubmed.ncbi.nlm.nih.gov/41401169/). *PLoS One*. [Review / Meta-Analysis]
Redouane S (2025). [PMID: 39841288](https://pubmed.ncbi.nlm.nih.gov/39841288/). *Mol Biol Rep*. [Case Report / Case Series]
Broojeni JV (2025). [PMID: 41932285](https://pubmed.ncbi.nlm.nih.gov/41932285/). *Reprod Biomed Online*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619202

GARD

Genetic and Rare Diseases Info Center

GARD:16436

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 52

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team