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spermatogenic failure 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 13

MONDO:0014365

Also known as:TAF4B azoospermiaazoospermia caused by mutation in TAF4Bspermatogenic failure type 13

Overview

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.

GeneticsAutosomal recessive · TAF4B (chr 18)

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: Elevated circulating follicle stimulating hormone level; and common findings: Male infertility and Azoospermia. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Genetic Landscape

TAF4B function has not been fully characterized.

Spermatogenic failure 13 is associated with mutations in the TAF4B gene on chromosome 18.

Diagnosis

Genetic testing for TAF4B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 13.

11 publications have been identified in PubMed for spermatogenic failure 13. Research spans Basic Science / Preclinical (45%), Review / Meta-Analysis (36%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Laboratory research	5	45%

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:615841

GARD

Genetic and Rare Diseases Info Center

GARD:16019

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 13

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 13

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