IgG4-related retroperitoneal fibrosis
disease diseaseOn this page
Also known as idiopathic retroperitoneal fibrosisOrmond diseaseOrmond's diseaseRetroperitoneal Fibrosis
Summary
IgG4-related retroperitoneal fibrosis (MONDO:0018848) is a disease and 13 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous and tocilizumab. A subtype of immunoglobulin G4-related sclerosing disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 43
- Clinical trials: 13
Clinical features
Epidemiology
Prevalence records
3 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 | Europe | Validated |
| Point prevalence | 1-9 / 100 000 | Europe | Not yet validated | |
| Point prevalence | 1-9 / 100 000 | Finland | Not yet validated |
Signs & symptoms
Clinical features (HPO)
43 HPO clinical features (Orphanet curated; top 43 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0012531 | Pain | Very frequent (80-99%) |
| HP:0002027 | Abdominal pain | Frequent (30-79%) |
| HP:0002039 | Anorexia | Frequent (30-79%) |
| HP:0003138 | Increased blood urea nitrogen | Frequent (30-79%) |
| HP:0003259 | Elevated circulating creatinine concentration | Frequent (30-79%) |
| HP:0003419 | Low back pain | Frequent (30-79%) |
| HP:0003565 | Elevated erythrocyte sedimentation rate | Frequent (30-79%) |
| HP:0005310 | Large vessel vasculitis | Frequent (30-79%) |
| HP:0011227 | Elevated circulating C-reactive protein concentration | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0012583 | Unilateral renal hypoplasia | Frequent (30-79%) |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | Frequent (30-79%) |
| HP:0030157 | Flank pain | Frequent (30-79%) |
| HP:0031191 | Deep dermal perivascular inflammatory infiltrate | Frequent (30-79%) |
| HP:0000083 | Renal insufficiency | Frequent (30-79%) |
| HP:0000126 | Hydronephrosis | Frequent (30-79%) |
| HP:0000822 | Hypertension | Frequent (30-79%) |
| HP:0001824 | Weight loss | Frequent (30-79%) |
| HP:0001897 | Normocytic anemia | Frequent (30-79%) |
| HP:0000074 | Ureteropelvic junction obstruction | Occasional (5-29%) |
| HP:0000872 | Hashimoto thyroiditis | Occasional (5-29%) |
| HP:0001370 | Rheumatoid arthritis | Occasional (5-29%) |
| HP:0001919 | Acute kidney injury | Occasional (5-29%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0002017 | Nausea and vomiting | Occasional (5-29%) |
| HP:0002019 | Constipation | Occasional (5-29%) |
| HP:0002725 | Systemic lupus erythematosus | Occasional (5-29%) |
| HP:0002923 | Rheumatoid factor positive | Occasional (5-29%) |
| HP:0003262 | Smooth muscle antibody positivity | Occasional (5-29%) |
| HP:0003453 | Antineutrophil antibody positivity | Occasional (5-29%) |
| HP:0003765 | Psoriasiform dermatitis | Occasional (5-29%) |
| HP:0010741 | Pedal edema | Occasional (5-29%) |
| HP:0012578 | Membranous nephropathy | Occasional (5-29%) |
| HP:0000034 | Hydrocele testis | Very rare (<1-4%) |
| HP:0000100 | Nephrotic syndrome | Very rare (<1-4%) |
| HP:0000790 | Hematuria | Very rare (<1-4%) |
| HP:0000802 | Impotence | Very rare (<1-4%) |
| HP:0002639 | Budd-Chiari syndrome | Very rare (<1-4%) |
| HP:0008682 | Renal tubular epithelial necrosis | Very rare (<1-4%) |
| HP:0012871 | Varicocele | Very rare (<1-4%) |
| HP:0012877 | Retrograde ejaculation | Very rare (<1-4%) |
| HP:0100518 | Dysuria | Very rare (<1-4%) |
| HP:0100817 | Renovascular hypertension | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | IgG4-related retroperitoneal fibrosis |
| Mondo ID | MONDO:0018848 |
| MeSH | D012185 |
| Orphanet | 49041 |
| ICD-11 | 900354709 |
| NCIT | C26876 |
| SNOMED CT | 197808006 |
| UMLS | C0035357 |
| MedGen | 20554 |
| GARD | 0009568 |
| MedDRA | 10038979 |
| NORD | 1665 |
| Is cancer (heuristic) | no |
Also known as: idiopathic retroperitoneal fibrosis · Ormond disease · Ormond’s disease · Retroperitoneal Fibrosis · retroperitoneal fibrosis
Disease family
This is a subtype of immunoglobulin G4-related sclerosing disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › immune system disorder › autoimmune disease › immunoglobulin G4-related sclerosing disease › IgG4-related retroperitoneal fibrosis
Related subtypes (13): autoimmune pancreatitis, IgG4-related mesenteritis, IgG4-related sclerosing cholangitis, IgG4-related kidney disease, IgG4-related aortitis, IgG4-related pachymeningitis, IgG4-related submandibular gland disease, IgG4-related ophthalmic disorder, eosinophilic angiocentric fibrosis, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, IgG4-related mediastinitis, IgG4-related thyroid disease
Subtypes (1): fibrosclerosis, multifocal
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
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
4 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Methotrexate | Phase 3 |
| Prednisone | Phase 3 |
| Sirolimus | Phase 2 |
| Tamoxifen | Phase 2 |
Clinical trials & evidence
Clinical trials
Clinical trials: 13.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE4 | 3 |
| PHASE3 | 1 |
| PHASE2/PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05428826 | PHASE4 | RECRUITING | Early Discontinuation of Steroid Treatment in Negative FDG-PET/CT Patients With Idiopathic Retroperitoneal Fibrosis |
| NCT04762784 | PHASE4 | UNKNOWN | A Prospective Study of Tocilizumab in the Treatment of Idiopathic Retroperitoneal Fibrosis |
| NCT04762810 | PHASE4 | UNKNOWN | A Prospective Study of Cyclophosphamide Treatment for Idiopathic Retroperitoneal Fibrosis |
| NCT04047576 | PHASE2/PHASE3 | RECRUITING | Study of Sirolimus in Idiopathic Retroperitoneal Fibrosis |
| NCT01240850 | PHASE3 | UNKNOWN | Methotrexate as a Steroid-sparing Agent in Idiopathic Retroperitoneal Fibrosis: a Randomised, Multicenter Trial |
| NCT00440349 | PHASE2 | UNKNOWN | Prednisone Versus Tamoxifen in Idiopathic Retroperitoneal Fibrosis |
| NCT01584388 | PHASE1/PHASE2 | COMPLETED | Rituximab in IgG4-RD: A Phase 1-2 Trial |
| NCT02705638 | PHASE1 | COMPLETED | Treatment of IgG4-Related Disease With Revlimid and Rituximab |
| NCT04312854 | Not specified | RECRUITING | A Prospective Cohort Study of IRPF in China |
| NCT04314323 | Not specified | RECRUITING | National Registry of IRPF in China |
| NCT06065852 | Not specified | RECRUITING | National Registry of Rare Kidney Diseases |
| NCT06741423 | Not specified | ACTIVE_NOT_RECRUITING | Distinguishing Retroperitoneal Fibrosis and Sarcoma from Other Retroperitoneal Diseases Via Radiomics |
| NCT03133949 | Not specified | UNKNOWN | Aortitis and Retroperitoneal Fibrosis: Evaluation of Diagnostic Criteria |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPHOSPHAMIDE ANHYDROUS | 4 | 3 |
| TOCILIZUMAB | 4 | 1 |
Related Atlas pages
- Drugs: Cyclophosphamide, Tocilizumab