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spermatogenic failure 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 20

MONDO:0054724

Also known as:SPGF20

Overview

GeneticsAutosomal recessive · CFAP44 (chr 3)

ResearchLimited published research (2 articles)

Clinical Presentation

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

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.

CFAP44 encodes cilia and flagella associated protein 44 (1,854 aa). Flagellar protein involved in sperm flagellum axoneme organization and function Highest expression in Pituitary (16.2 TPM) and Testis (13.0 TPM).

Spermatogenic failure 20 is associated with mutations in the CFAP44 gene on chromosome 3.

CFAP44 is classified as a druggable target (Protease category) with score 0.0.

Diagnosis

Genetic testing for CFAP44 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 20.

2 publications have been identified in PubMed for spermatogenic failure 20. Research spans Review / Meta-Analysis (100%).

Recent Publications

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

Data assembled from 5 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:617593

GARD

Genetic and Rare Diseases Info Center

GARD:18404

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 20

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