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spermatogenic failure 33 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 33

MONDO:0029147

Also known as:SPGF33

Overview

GeneticsAutosomal recessive · CFAP251 (chr 12)

ResearchLimited published research (8 articles)

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.

CFAP251 encodes cilia and flagella associated protein 251 (1,149 aa). Involved in spermatozoa motility. May also regulate cilium motility through its role in the assembly of the axonemal radial spokes Highest expression in Testis (30.9 TPM) and Pituitary (13.5 TPM).

Spermatogenic failure 33 is associated with mutations in the CFAP251 gene on chromosome 12.

CFAP251 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP251 is available. Testing is considered confirmatory for diagnosis.

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 33.

8 publications have been identified in PubMed for spermatogenic failure 33. Research spans Review / Meta-Analysis (38%), Basic Science / Preclinical (38%), and Case Report / Case Series (13%).

Recent Publications

Atkins GR (2026). [PMID: 41756962](https://pubmed.ncbi.nlm.nih.gov/41756962/). *bioRxiv*. [Basic Science / Preclinical]
Noor AA (2026). [PMID: 41271156](https://pubmed.ncbi.nlm.nih.gov/41271156/). *Parasitol Int*. [Epidemiology / Natural History]
Rehfeld JF (2025). [PMID: 40557463](https://pubmed.ncbi.nlm.nih.gov/40557463/). *J Intern Med*. [Review / Meta-Analysis]
Marić T (2025). [PMID: 39777458](https://pubmed.ncbi.nlm.nih.gov/39777458/). *Hum Mol Genet*. [Basic Science / Preclinical]
Lin M (2025). [PMID: 40418379](https://pubmed.ncbi.nlm.nih.gov/40418379/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Gao T (2025). [PMID: 40442757](https://pubmed.ncbi.nlm.nih.gov/40442757/). *Cell Commun Signal*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618152

GARD

Genetic and Rare Diseases Info Center

GARD:18406

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 33

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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