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spermatogenic failure 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 10

MONDO:0013901

Also known as:SEPT12 azoospermiaazoospermia caused by mutation in SEPT12spermatogenic failure type 10

Overview

Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.

GeneticsAutosomal dominant · SEPTIN12 (chr 16)

Clinical Presentation

Features include always present findings: Male infertility and Abnormal sperm morphology; and common findings: Reduced sperm motility and Oligozoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

SEPTIN12 function has not been fully characterized.

Spermatogenic failure 10 is associated with mutations in the SEPTIN12 gene on chromosome 16.

Diagnosis

Genetic testing for SEPTIN12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 10.

23 publications have been identified in PubMed for spermatogenic failure 10. Research spans Basic Science / Preclinical (35%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (22%).

Research Type	Count	% of Total
Laboratory research	8	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614822

GARD

Genetic and Rare Diseases Info Center

GARD:18401

Questions for Your Care Team

→Should I pursue genetic testing for SEPTIN12, and what would the results mean for my family?
→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 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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