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spermatogenic failure 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 9

MONDO:0013505

Also known as:DPY19L2 azoospermiaazoospermia caused by mutation in DPY19L2spermatogenic failure type 9

Overview

Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.

GeneticsAutosomal recessive · DPY19L2 (chr 12)

Clinical Presentation

Features include always present findings: Male infertility and Globozoospermia.

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.

DPY19L2 encodes dpy-19 like 2 (758 aa). Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins Highest expression in Testis (51.9 TPM) and Artery Tibial (38.5 TPM).

Spermatogenic failure 9 is associated with mutations in the DPY19L2 gene on chromosome 12.

DPY19L2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DPY19L2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 9 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 9.

15 publications have been identified in PubMed for spermatogenic failure 9. Research spans Basic Science / Preclinical (53%), Diagnostic / Biomarker (13%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Laboratory research	8	53%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613958

GARD

Genetic and Rare Diseases Info Center

GARD:15735

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 9

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

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