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spermatogenic failure 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 15

MONDO:0014847

Also known as:SPGF15SYCE1 azoospermiaazoospermia caused by mutation in SYCE1

Overview

Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.

GeneticsAutosomal recessive · SYCE1 (chr 10)

Clinical Presentation

Features include always present findings: Male infertility, Spermatogenesis maturation arrest, and Non-obstructive azoospermia. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

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Genetic Landscape

SYCE1 function has not been fully characterized.

Spermatogenic failure 15 is associated with mutations in the SYCE1 gene on chromosome 10.

Diagnosis

Genetic testing for SYCE1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 15.

25 publications have been identified in PubMed for spermatogenic failure 15. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	14	56%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616950

GARD

Genetic and Rare Diseases Info Center

GARD:16173

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 15

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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