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spermatogenic failure 41 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 41

MONDO:0032863

Also known as:SPGF41

Overview

GeneticsAutosomal recessive · CFAP70 (chr 10)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Male infertility, Tapered sperm head, Immotile sperm, and Oligozoospermia 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.

CFAP70 encodes cilia and flagella associated protein 70 (1,121 aa). Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length. Highest expression in Pituitary (24.6 TPM) and Testis (19.3 TPM).

Spermatogenic failure 41 is associated with mutations in the CFAP70 gene on chromosome 10.

CFAP70 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP70 is available. Testing is considered confirmatory for diagnosis.

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 41.

4 publications have been identified in PubMed for spermatogenic failure 41. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Caroppo E (2026). [PMID: 40220323](https://pubmed.ncbi.nlm.nih.gov/40220323/). *Andrology*. [Basic Science / Preclinical]
Amasdl S (2026). [PMID: 42097595](https://pubmed.ncbi.nlm.nih.gov/42097595/). *Clin Exp Reprod Med*. [Epidemiology / Natural History]
Zhu Y (2026). [PMID: 42181263](https://pubmed.ncbi.nlm.nih.gov/42181263/). *iScience*. [Basic Science / Preclinical]
Valkna A (2025). [PMID: 40060932](https://pubmed.ncbi.nlm.nih.gov/40060932/). *Hum Reprod Open*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 2:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618670

GARD

Genetic and Rare Diseases Info Center

GARD:18412

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 41

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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