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spermatogenic failure 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 12

MONDO:0014172

Also known as:NANOS1 azoospermiaazoospermia caused by mutation in NANOS1spermatogenic failure type 12

Overview

Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.

GeneticsAutosomal dominant · NANOS1 (chr 10)

Clinical Presentation

Features include: Infertility, Abnormal male germ cell morphology, and Azoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	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.

NANOS1 encodes nanos C2HC-type zinc finger 1 (292 aa). May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Highest expression in Muscle Skeletal (6.9 TPM) and Adrenal Gland (5.0 TPM).

Spermatogenic failure 12 is associated with mutations in the NANOS1 gene on chromosome 10.

NANOS1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NANOS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 12 has been reported in the published literature.

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 12.

14 publications have been identified in PubMed for spermatogenic failure 12. Research spans Basic Science / Preclinical (36%), Diagnostic / Biomarker (21%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	5	36%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615413

GARD

Genetic and Rare Diseases Info Center

GARD:15960

Questions for Your Care Team

→Should I pursue genetic testing for NANOS1, 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 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

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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