Features include always present findings: Situs inversus totalis, Abdominal situs inversus, Male infertility, and Recurrent otitis media and others; and common findings: Dextrocardia. 8 total HPO annotations.

CFAP52 encodes cilia and flagella associated protein 52 (620 aa). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme. Important for proper ciliary and flagellar beating. Highest expression in Testis (21.3 TPM) and Fallopian Tube (4.4 TPM).

Heterotaxy, visceral, 10, autosomal, with male infertility is associated with mutations in the CFAP52 gene on chromosome 17.

CFAP52 is classified as a druggable target with score 0.0.

Genetic testing for CFAP52 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 1 common feature.

No clinical trials have been registered for heterotaxy, visceral, 10, autosomal, with male infertility.

3 publications have been identified in PubMed for heterotaxy, visceral, 10, autosomal, with male infertility. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Yi W (2025). [PMID: 40670315](https://pubmed.ncbi.nlm.nih.gov/40670315/). *Prenat Diagn*. [Epidemiology / Natural History]

• Maraval J (2025). [PMID: 39233552](https://pubmed.ncbi.nlm.nih.gov/39233552/). *Am J Med Genet A*. [Case Report / Case Series]

• Hjeij R (2024). [PMID: 38920647](https://pubmed.ncbi.nlm.nih.gov/38920647/). *Cells*. [Basic Science / Preclinical]