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heterotaxy, visceral, 12, autosomal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 12, autosomal

MONDO:0859222

Overview

GeneticsAutosomal recessive · CIROP (chr 14)

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, Complete atrioventricular canal defect, and Double outlet right ventricle; and sometimes findings: Dextrocardia, Single ventricle, Abdominal situs ambiguus, and Discordant atrioventricular connection and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	Hypoplastic left heart, Hypoplastic aortic arch, Ventricular 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.

CIROP encodes ciliated left-right organizer metallopeptidase (788 aa). Putative metalloproteinase that plays a role in left-right patterning process Highest expression in Testis (0.6 TPM) and Brain Spinal cord cervical c-1 (0.5 TPM).

Heterotaxy, visceral, 12, autosomal is associated with mutations in the CIROP gene on chromosome 14.

CIROP is classified as a druggable target (Protease category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 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, 12, autosomal.

2 publications have been identified in PubMed for heterotaxy, visceral, 12, autosomal. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Reilly K (2024). [PMID: 38708840](https://pubmed.ncbi.nlm.nih.gov/38708840/). *Prenatal diagnosis*. [Review / Meta-Analysis]
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, 4:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619702

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, 12, 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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