Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

spermatogenic failure 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 18

MONDO:0054615

Also known as:SPGF18

Overview

GeneticsAutosomal recessive · DNAH1 (chr 3)

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: Irregularly shaped sperm tail, Coiled sperm flagella, Male infertility, and Reduced sperm motility and others.

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.

DNAH1 encodes dynein axonemal heavy chain 1 (4,265 aa). Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Highest expression in Testis (27.4 TPM) and Spleen (12.4 TPM).

Spermatogenic failure 18 is caused by mutations in the DNAH1 gene on chromosome 3.

DNAH1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 18.

13 publications have been identified in PubMed for spermatogenic failure 18. Research spans Basic Science / Preclinical (38%), Diagnostic / Biomarker (23%), and Clinical Trial Publication (15%).

Research Type	Count	% of Total
Laboratory research	5	38%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617576

GARD

Genetic and Rare Diseases Info Center

GARD:18402

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?

← Back to All Diseases

spermatogenic failure 18

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

Recent Publications