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spermatogenic failure 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 19

MONDO:0054723

Also known as:SPGF19

Overview

GeneticsAutosomal recessive · CFAP43 (chr 10)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Coiled sperm flagella, Male infertility, Reduced sperm motility, and Absent sperm flagella 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.

CFAP43 encodes cilia and flagella associated protein 43 (1,665 aa). Flagellar protein involved in sperm flagellum axoneme organization and function. Involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract Highest expression in Testis (45.2 TPM) and Pituitary (7.6 TPM).

Spermatogenic failure 19 is caused by mutations in the CFAP43 gene on chromosome 10.

CFAP43 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP43 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 19 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 19.

3 publications have been identified in PubMed for spermatogenic failure 19. Research spans Review / Meta-Analysis (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Lamb DJ (2026). [PMID: 41486877](https://pubmed.ncbi.nlm.nih.gov/41486877/). *Endocrinology*. [Review / Meta-Analysis]
Oud MS (2025). [PMID: 39180390](https://pubmed.ncbi.nlm.nih.gov/39180390/). *Andrology*. [Diagnostic / Biomarker]
Stallmeyer B (2025). [PMID: 39120565](https://pubmed.ncbi.nlm.nih.gov/39120565/). *Andrology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617592

GARD

Genetic and Rare Diseases Info Center

GARD:18403

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 19

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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