Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

heterotaxy, visceral, 11, autosomal, with male infertility (HTX11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 11, autosomal, with male infertility

MONDO:0030475

Also known as:HTX11

Overview

GeneticsAutosomal recessive · CFAP45 (chr 1)

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: Situs inversus totalis, Chronic sinusitis, Asthenopia, and Reduced progressive sperm motility; and common findings: Primum atrial septal defect, Partial atrioventricular canal defect, Polysplenia, and Chronic otitis media and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Primum atrial septal defect

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.

CFAP45 encodes cilia and flagella associated protein 45 (551 aa). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Highest expression in Testis (80.7 TPM) and Lung (9.7 TPM).

Heterotaxy, visceral, 11, autosomal, with male infertility is associated with mutations in the CFAP45 gene on chromosome 1.

CFAP45 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP45 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 6 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619608

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?

← Back to All Diseases

heterotaxy, visceral, 11, autosomal, with male infertility

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features