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primary desmosis coli - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary desmosis coli

MONDO:0034846

Overview

A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.

ResearchLimited published research (2 articles)

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 primary desmosis coli.

2 publications have been identified in PubMed for primary desmosis coli. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

van den Beld N (2026). [PMID: 41555564](https://pubmed.ncbi.nlm.nih.gov/41555564/). *Neurogastroenterol Motil*. [Basic Science / Preclinical]
Penaloza CSQ (2024). [PMID: 39594980](https://pubmed.ncbi.nlm.nih.gov/39594980/). *Children (Basel)*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:565641

GARD

Genetic and Rare Diseases Info Center

GARD:22268

Questions for Your Care Team

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primary desmosis coli

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team