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heterotaxy, visceral, 6, autosomal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 6, autosomal

MONDO:0013887

Also known as:heterotaxy, visceral, 6, autosomal recessiveHTX6

Overview

GeneticsAutosomal recessive · CFAP53 (chr 18)

ResearchLimited published research (2 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 common findings: Situs inversus totalis, Dextrocardia, Double outlet right ventricle, and Right aortic arch and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Right aortic arch, Hypoplastic left heart

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.

CFAP53 encodes cilia and flagella associated protein 53 (514 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 (193.0 TPM) and Brain Cerebellar Hemisphere (9.4 TPM).

Heterotaxy, visceral, 6, autosomal is associated with mutations in the CFAP53 gene on chromosome 18.

CFAP53 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP53 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 common 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 heterotaxy, visceral, 6, autosomal.

2 publications have been identified in PubMed for heterotaxy, visceral, 6, autosomal. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Reilly K (2024). [PMID: 38708840](https://pubmed.ncbi.nlm.nih.gov/38708840/). *Prenat Diagn*. [Review / Meta-Analysis]
Hjeij R (2024). [PMID: 38920647](https://pubmed.ncbi.nlm.nih.gov/38920647/). *Cells*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614779

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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heterotaxy, visceral, 6, autosomal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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