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spermatogenic failure 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 11

MONDO:0014037

Also known as:KLHL10 azoospermiaazoospermia caused by mutation in KLHL10spermatogenic failure type 11

Overview

Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.

GeneticsAutosomal dominant · KLHL10 (chr 17)

Clinical Presentation

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

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KLHL10 encodes kelch like family member 10 (608 aa). May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenes... Highest expression in Testis (119.4 TPM) and Esophagus Muscularis (2.3 TPM).

Spermatogenic failure 11 is associated with mutations in the KLHL10 gene on chromosome 17.

KLHL10 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for KLHL10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 11 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 11.

14 publications have been identified in PubMed for spermatogenic failure 11. Research spans Basic Science / Preclinical (79%), Diagnostic / Biomarker (7%), and Review / Meta-Analysis (7%).

Research Type	Count	% of Total
Laboratory research	11	79%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615081

GARD

Genetic and Rare Diseases Info Center

GARD:15904

Questions for Your Care Team

→Should I pursue genetic testing for KLHL10, 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 11

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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