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inflammatory bowel disease 25 (IBD25) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inflammatory bowel disease 25

MONDO:0012941

Also known as:IBD25IL10RB inflammatory bowel diseaseearly onset autosomal recessive inflammatory bowel disease 25

Overview

Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.

GeneticsAutosomal recessive · IL10RB (chr 21)

OnsetINFANTILE

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: Rectovaginal fistula, Enterocolitis, Pancolitis, and Recurrent bronchitis and others; and common findings: Enterocutaneous fistula and Perianal abscess.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Recurrent bronchitis

Age of onset: infancy.

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.

IL10RB encodes interleukin 10 receptor subunit beta (325 aa). Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. Highest expression in Whole Blood (55.0 TPM) and Spleen (43.6 TPM).

Inflammatory bowel disease 25 is caused by mutations in the IL10RB gene on chromosome 21.

The IL10RB protein participates in IFNL2,IFNL3 bind IL10RB:TYK2 and IFNLR1:JAK1 pathway.

IL10RB is classified as a druggable target (Druggable Genome category) with score 8.7.

Diagnosis

Genetic testing for IL10RB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for inflammatory bowel disease 25 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 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 inflammatory bowel disease 25.

213 publications have been identified in PubMed for inflammatory bowel disease 25. Kisho has analyzed 116 by research type. Research spans Review / Meta-Analysis (39%), Epidemiology / Natural History (29%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Research summaries	45	39%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612567

GARD

Genetic and Rare Diseases Info Center

GARD:18342

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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inflammatory bowel disease 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

inflammatory bowel disease 25

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications