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imperforate anus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

imperforate anus

MONDO:0001046

Also known as:anal atresiaanus, imperforatecongenital atresia of anus

Find Clinical TrialsTrials

Overview

A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.

Clinical Trials8 registered · 3 recruiting

Diagnosis

Biomarker and diagnostic research for imperforate anus has been reported in the published literature.

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.

8 clinical trials registered, 3 recruiting. Interventions under study include other interventions, medical devices, and procedural interventions. Pipeline includes 1 PHASE3, 1 EARLY_PHASE1, 2 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07366476](https://clinicaltrials.gov/study/NCT07366476)

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:207500 OMIM:301800

GARD

Genetic and Rare Diseases Info Center

GARD:6769

Questions for Your Care Team

→Are any of the 8 active clinical trials a good fit for my situation?
→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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Research Type	Count	% of Total
Patient case studies	73	51%
Disease patterns and progression	22	15%
Research summaries	15	10%
Clinical study results	13	9%
Other research	9	6%
Testing and diagnosis research	6	4%
Laboratory research	5	3%

Kisho

imperforate anus

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

imperforate anus

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.