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caudal duplication - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

caudal duplication

MONDO:0011928

Also known as:dipygussplit notochord syndromecaudal DUPLICATION anomaly

Overview

Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.

GeneticsAXIN1 (chr 16)

Clinical Presentation

Features include: Uterus didelphys and Ureteral duplication.

Explore clinical features

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.

AXIN1 encodes axin 1 (862 aa). Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling. Highest expression in Brain Cerebellar Hemisphere (41.0 TPM) and Brain Cerebellum (40.5 TPM).

Caudal duplication is associated with mutations in the AXIN1 gene on chromosome 16.

AXIN1 is classified as a druggable target (Clinically Actionable and Kinase categories) with score 52.2.

Diagnosis

Genetic testing for AXIN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 caudal duplication.

10 publications have been identified in PubMed for caudal duplication. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	6	60%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607864

Orphanet

European rare disease database

Orphanet:1756

GARD

Genetic and Rare Diseases Info Center

GARD:1164

Questions for Your Care Team

→Should I pursue genetic testing for AXIN1, and what would the results mean for my family?
→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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caudal duplication

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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