Inflammatory bowel disease 25
disease diseaseOn this page
Also known as IBD25IL10RB inflammatory bowel diseaseinflammatory bowel disease 25, autosomal recessiveinflammatory bowel disease 25, early onset, autosomal recessiveinflammatory bowel disease caused by mutation in IL10RBinflammatory bowel disease type 25
Summary
Inflammatory bowel disease 25 (MONDO:0012941) is a disease caused by IL10RB (GenCC Strong), with 1 cohort gene and 1 clinical trial.
At a glance
- Causal gene: IL10RB (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 254
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | inflammatory bowel disease 25 |
| Mondo ID | MONDO:0012941 |
| MeSH | C567251 |
| OMIM | 612567 |
| DOID | DOID:0110909 |
| UMLS | C2675508 |
| MedGen | 393403 |
| GARD | 0018342 |
| Is cancer (heuristic) | no |
Also known as: IBD25 · IL10RB inflammatory bowel disease · inflammatory bowel disease 25, autosomal recessive · inflammatory bowel disease 25, early onset, autosomal recessive · inflammatory bowel disease caused by mutation in IL10RB · inflammatory bowel disease type 25
Data availability: 254 ClinVar variants · 2 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › immune system disorder › inborn error of immunity › IL10-related early-onset inflammatory bowel disease › inflammatory bowel disease 25
Related subtypes (1): inflammatory bowel disease 28
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
254 retrieved; paginated sample, class counts are floors:
106 uncertain significance, 102 likely benign, 15 conflicting classifications of pathogenicity, 11 pathogenic, 10 benign, 6 likely pathogenic, 2 pathogenic/likely pathogenic, 2 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1066486 | NM_000628.5(IL10RB):c.173+2T>G | IFNAR2-IL10RB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 16924 | NM_000628.5(IL10RB):c.477G>A (p.Trp159Ter) | IFNAR2-IL10RB | Pathogenic | criteria provided, single submitter |
| 3775101 | NM_000628.5(IL10RB):c.574C>T (p.Arg192Ter) | IFNAR2-IL10RB | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 631881 | NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter) | IFNAR2-IL10RB | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 803628 | NM_000628.5(IL10RB):c.476G>A (p.Trp159Ter) | IFNAR2-IL10RB | Pathogenic | criteria provided, single submitter |
| 836516 | NM_000628.5(IL10RB):c.120G>A (p.Trp40Ter) | IFNAR2-IL10RB | Pathogenic | criteria provided, single submitter |
| 935672 | NM_000628.5(IL10RB):c.689C>A (p.Ser230Ter) | IFNAR2-IL10RB | Pathogenic | criteria provided, single submitter |
| 2423332 | NC_000021.8:g.(?34648881)(34655566_?)del | IL10RB | Pathogenic | criteria provided, single submitter |
| 2664348 | NM_000628.5(IL10RB):c.300G>A (p.Trp100Ter) | IL10RB | Pathogenic | no assertion criteria provided |
| 3248153 | NC_000021.8:g.(?34638771)(34668662_?)del | IL10RB | Pathogenic | criteria provided, single submitter |
| 3660494 | NM_000628.5(IL10RB):c.168C>G (p.Tyr56Ter) | IL10RB | Pathogenic | criteria provided, single submitter |
| 41900 | NM_000628.5(IL10RB):c.421G>T (p.Glu141Ter) | IL10RB | Pathogenic | no assertion criteria provided |
| 831278 | NC_000021.9:g.(?33276576)(33276773_?)del | IL10RB | Pathogenic | criteria provided, single submitter |
| 1028850 | NM_000628.5(IL10RB):c.331+1G>C | IFNAR2-IL10RB | Likely pathogenic | criteria provided, single submitter |
| 2699058 | NM_000628.5(IL10RB):c.174-1G>A | IFNAR2-IL10RB | Likely pathogenic | criteria provided, single submitter |
| 3587666 | NM_000628.5(IL10RB):c.805-2A>C | IFNAR2-IL10RB | Likely pathogenic | criteria provided, single submitter |
| 1066682 | NM_000628.5(IL10RB):c.49+2T>G | IL10RB | Likely pathogenic | criteria provided, single submitter |
| 3728868 | NM_000628.5(IL10RB):c.331+1G>A | IL10RB | Likely pathogenic | criteria provided, single submitter |
| 2664350 | NM_000628.5(IL10RB):c.25_43del (p.Leu9fs) | LOC130066558 | Likely pathogenic | no assertion criteria provided |
| 1518715 | NM_000628.5(IL10RB):c.673G>A (p.Val225Ile) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1528177 | NM_000628.5(IL10RB):c.954G>A (p.Pro318=) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 339693 | NM_000628.5(IL10RB):c.174-14T>G | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 537182 | NM_000628.5(IL10RB):c.913G>A (p.Gly305Ser) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 576700 | NM_000628.5(IL10RB):c.727G>T (p.Ala243Ser) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 740152 | NM_000628.5(IL10RB):c.215C>T (p.Thr72Met) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 742180 | NM_000628.5(IL10RB):c.645C>T (p.Asp215=) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 835048 | NM_000628.5(IL10RB):c.953C>T (p.Pro318Leu) | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 895130 | NM_000628.5(IL10RB):c.332-11C>T | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 992564 | NM_000628.5(IL10RB):c.804+8G>A | IFNAR2-IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 537180 | NM_000628.5(IL10RB):c.442G>A (p.Val148Met) | IL10RB | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| IL10RB | Strong | Autosomal recessive | inflammatory bowel disease 25 | 3 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| IL10RB | Orphanet:238569 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| IL10RB | HGNC:5965 | ENSG00000243646 | Q08334 | Interleukin-10 receptor subunit beta | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| IL10RB | Interleukin-10 receptor subunit beta | Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 29.2× | 0.034 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| IL10RB | Antibody/Immunoglobulin | yes | FN3_dom, Ig-like_fold, Interferon/interleukin_rcp_dom |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| leukocyte | 1 |
| monocyte | 1 |
| placenta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| IL10RB | 142 | ubiquitous | marker | placenta, monocyte, leukocyte |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| IL10RB | 1,554 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| IL10RB | Q08334 | 5 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Other interleukin signaling | 1 | 475.8× | 0.004 | IL10RB |
| Interleukin-20 family signaling | 1 | 423.0× | 0.004 | IL10RB |
| Interleukin-10 signaling | 1 | 233.1× | 0.004 | IL10RB |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of cellular respiration | 1 | 1872.4× | 0.002 | IL10RB |
| type III interferon-mediated signaling pathway | 1 | 1532.0× | 0.002 | IL10RB |
| interleukin-10-mediated signaling pathway | 1 | 1404.3× | 0.002 | IL10RB |
| positive regulation of receptor signaling pathway via JAK-STAT | 1 | 432.1× | 0.006 | IL10RB |
| cellular response to virus | 1 | 200.6× | 0.010 | IL10RB |
| cytokine-mediated signaling pathway | 1 | 130.6× | 0.013 | IL10RB |
| defense response to virus | 1 | 69.3× | 0.021 | IL10RB |
| immune response | 1 | 47.1× | 0.027 | IL10RB |
| inflammatory response | 1 | 37.7× | 0.029 | IL10RB |
| signal transduction | 1 | 16.1× | 0.062 | IL10RB |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| IL10RB | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | IL10RB |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| IL10RB | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05687474 | Not specified | COMPLETED | Baby Detect : Genomic Newborn Screening |
Related Atlas pages
- Cohort genes: IL10RB