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spermatogenic failure 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 6

MONDO:0007060

Also known as:SPATA16 azoospermiaazoospermia caused by mutation in SPATA16spermatogenic failure type 6

Overview

Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.

GeneticsAutosomal recessive · SPATA16 (chr 3)

Clinical Presentation

Features include always present findings: Male infertility and Globozoospermia. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

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Genetic Landscape

SPATA16 function has not been fully characterized.

Spermatogenic failure 6 is associated with mutations in the SPATA16 gene on chromosome 3.

Diagnosis

Genetic testing for SPATA16 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 6 has been reported in the published literature.

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 6.

21 publications have been identified in PubMed for spermatogenic failure 6. Research spans Basic Science / Preclinical (43%), Epidemiology / Natural History (19%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	9	43%

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:102530

GARD

Genetic and Rare Diseases Info Center

GARD:15032

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 6

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

Questions for Your Care Team

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