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spermatogenic failure 40 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 40

MONDO:0032859

Also known as:SPGF40

Overview

GeneticsAutosomal recessive · CFAP65 (chr 2)

Clinical Presentation

Features include always present findings: Male infertility, Immotile sperm, and Oligozoospermia. 6 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.

CFAP65 encodes cilia and flagella associated protein 65 (1,925 aa). Plays a role in flagellar formation and sperm motility. Highest expression in Testis (17.6 TPM) and Pituitary (4.1 TPM).

Spermatogenic failure 40 is associated with mutations in the CFAP65 gene on chromosome 2.

CFAP65 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP65 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 40 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 40.

12 publications have been identified in PubMed for spermatogenic failure 40. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (33%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Laboratory research	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618664

GARD

Genetic and Rare Diseases Info Center

GARD:18411

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 40

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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