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spermatogenic failure 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 14

MONDO:0014366

Also known as:ZMYND15 azoospermiaazoospermia caused by mutation in ZMYND15spermatogenic failure type 14

Overview

Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.

GeneticsAutosomal recessive · ZMYND15 (chr 17)

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: Round spermatid arrest, Male infertility, Elevated circulating follicle stimulating hormone level, and Azoospermia. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Genetic Landscape

ZMYND15 function has not been fully characterized.

Spermatogenic failure 14 is associated with mutations in the ZMYND15 gene on chromosome 17.

Diagnosis

Genetic testing for ZMYND15 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 14 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 14.

13 publications have been identified in PubMed for spermatogenic failure 14. Research spans Basic Science / Preclinical (38%), Diagnostic / Biomarker (15%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	5	38%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 7:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615842

GARD

Genetic and Rare Diseases Info Center

GARD:16020

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 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

spermatogenic failure 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications