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spermatogenic failure 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 30

MONDO:0020851

Also known as:SPGF30

Overview

GeneticsAutosomal recessive · TDRD9 (chr 14)

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: Male infertility and Spermatogenesis maturation arrest; and very common findings: Azoospermia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

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Genetic Landscape

TDRD9 function has not been fully characterized.

Spermatogenic failure 30 is associated with mutations in the TDRD9 gene on chromosome 14.

Diagnosis

Genetic testing for TDRD9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

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 30.

12 publications have been identified in PubMed for spermatogenic failure 30. Research spans Review / Meta-Analysis (42%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Research Type	Count	% of Total
Research summaries	5	42%

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:618110

GARD

Genetic and Rare Diseases Info Center

GARD:16291

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 30

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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