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heterotaxy, visceral, 14, autosomal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 14, autosomal

MONDO:0976135

Overview

GeneticsAutosomal recessive · CIROZ (chr 1)

ResearchLimited published research (1 article)

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: Bronchomalacia, Left atrial isomerism, Retrognathia, and Cystic hygroma and others; and very common findings: Situs inversus totalis. 56 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	12	Aortic valve atresia, Left atrial isomerism, Abnormal atrial arrangement

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.

CIROZ encodes ciliated left-right organizer protein containing ZP-N domains (823 aa). Plays a role in left-right patterning process Highest expression in Brain Cerebellum (4.3 TPM) and Muscle Skeletal (4.1 TPM).

Heterotaxy, visceral, 14, autosomal is associated with mutations in the CIROZ gene on chromosome 1.

CIROZ is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 23 always present features, 1 very common feature, 2 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, 14, autosomal.

1 publication has been identified in PubMed for heterotaxy, visceral, 14, autosomal. Research spans Case Report / Case Series (100%).

Recent Publications

Juré J (2024). [PMID: 39867101](https://pubmed.ncbi.nlm.nih.gov/39867101/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621080

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, 14, 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

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