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spermatogenic failure 39 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 39

MONDO:0032845

Also known as:SPGF39

Overview

GeneticsAutosomal recessive · DNAH17 (chr 17)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include always present findings: Male infertility and Reduced sperm motility. 7 total HPO annotations.

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.

DNAH17 encodes dynein axonemal heavy chain 17 (4,462 aa). Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. Produces force towards the minus ends of microtubules. Highest expression in Testis (22.9 TPM) and Brain Spinal cord cervical c-1 (13.6 TPM).

Spermatogenic failure 39 is caused by mutations in the DNAH17 gene on chromosome 17.

DNAH17 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAH17 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 39 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 39.

8 publications have been identified in PubMed for spermatogenic failure 39. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Gao Y (2026). [PMID: 40847540](https://pubmed.ncbi.nlm.nih.gov/40847540/). *Hum Reprod Update*. [Review / Meta-Analysis]
Chen Y (2025). [PMID: 41466333](https://pubmed.ncbi.nlm.nih.gov/41466333/). *Hum Genomics*. [Basic Science / Preclinical]
Xie W (2025). [PMID: 40021980](https://pubmed.ncbi.nlm.nih.gov/40021980/). *BMC Genomics*. [Basic Science / Preclinical]
Stallmeyer B (2025). [PMID: 39120565](https://pubmed.ncbi.nlm.nih.gov/39120565/). *Andrology*. [Review / Meta-Analysis]
Li G (2025). [PMID: 41339568](https://pubmed.ncbi.nlm.nih.gov/41339568/). *Discov Oncol*. [Epidemiology / Natural History]
Lillepea K (2024). [PMID: 38614076](https://pubmed.ncbi.nlm.nih.gov/38614076/). *Am J Hum Genet*. [Diagnostic / Biomarker]

Data assembled from 6 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:618643

GARD

Genetic and Rare Diseases Info Center

GARD:18410

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 39

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team