Chronic recurrent multifocal osteomyelitis 3
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Summary
Chronic recurrent multifocal osteomyelitis 3 (MONDO:0958177) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | chronic recurrent multifocal osteomyelitis 3 |
| Mondo ID | MONDO:0958177 |
| OMIM | 259680 |
| GARD | 0026955 |
| Is cancer (heuristic) | no |
Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone inflammation disease › osteomyelitis › chronic recurrent multifocal osteomyelitis › chronic recurrent multifocal osteomyelitis 3
Related subtypes (2): Majeed syndrome, sterile multifocal osteomyelitis with periostitis and pustulosis
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
1 retrieved; paginated sample, class counts are floors:
1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2574622 | NM_000877.4(IL1R1):c.391A>G (p.Lys131Glu) | IL1R1 | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 1 · Orphanet: 0 · 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 |
|---|---|---|---|---|
| IL1R1 | Limited | Autosomal dominant | chronic recurrent multifocal osteomyelitis 3 |
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 |
|---|---|---|---|---|---|
| IL1R1 | HGNC:5993 | ENSG00000115594 | P14778 | Interleukin-1 receptor type 1 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| IL1R1 | Interleukin-1 receptor type 1 | Receptor for IL1A, IL1B and IL1RN. |
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) |
|---|---|---|---|---|
| IL1R1 | Antibody/Immunoglobulin | yes | TIR_dom, Ig_sub, IL-1_rcpt_I/II-typ |
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 |
|---|---|
| palpebral conjunctiva | 1 |
| pericardium | 1 |
| tibia | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| IL1R1 | 279 | ubiquitous | marker | palpebral conjunctiva, tibia, pericardium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| IL1R1 | 2,820 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| IL1R1 | P14778 | 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 |
|---|---|---|---|---|
| Interleukin-10 signaling | 1 | 233.1× | 0.009 | IL1R1 |
| Interleukin-1 signaling | 1 | 124.1× | 0.009 | IL1R1 |
| Potential therapeutics for SARS | 1 | 114.2× | 0.009 | IL1R1 |
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 interleukin-1-mediated signaling pathway | 1 | 16852.0× | 8e-04 | IL1R1 |
| smooth muscle adaptation | 1 | 4213.0× | 0.001 | IL1R1 |
| positive regulation of platelet-derived growth factor receptor signaling pathway | 1 | 3370.4× | 0.001 | IL1R1 |
| positive regulation of neutrophil extravasation | 1 | 2407.4× | 0.001 | IL1R1 |
| positive regulation of T-helper 1 cell cytokine production | 1 | 2106.5× | 0.001 | IL1R1 |
| interleukin-1-mediated signaling pathway | 1 | 802.5× | 0.003 | IL1R1 |
| response to interleukin-1 | 1 | 510.7× | 0.004 | IL1R1 |
| positive regulation of type II interferon production | 1 | 224.7× | 0.008 | IL1R1 |
| regulation of inflammatory response | 1 | 168.5× | 0.009 | IL1R1 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 | 78.4× | 0.018 | IL1R1 |
| positive regulation of canonical NF-kappaB signal transduction | 1 | 72.6× | 0.018 | IL1R1 |
| cell surface receptor signaling pathway | 1 | 64.1× | 0.018 | IL1R1 |
| immune response | 1 | 47.1× | 0.023 | IL1R1 |
| inflammatory response | 1 | 37.7× | 0.027 | IL1R1 |
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 |
|---|---|---|
| IL1R1 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| IL1R1 | 11 | Binding:11 |
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 | IL1R1 |
| 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) |
|---|---|---|
| IL1R1 | 11 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: IL1R1