IgG4-related retroperitoneal fibrosis
Synonyms: Idiopathic retroperitoneal fibrosis · Ormond disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Adult
- Status
- active
A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related retroperitoneal fibrosis | Idiopathic retroperitoneal fibrosis · Ormond disease |
| fr | Fibrose rétropéritonéale associée à IgG4 | Fibrose rétropéritonéale idiopathique · Maladie d'Ormond |
| de | Retroperitonealfibrose, IgG4-assoziierte | Idiopathische retroperitoneale Fibrose · Ormond-Krankheit |
| es | Fibrosis retroperitoneal asociada a IgG4 | Enfermedad de Ormond · Fibrosis retroperitoneal idiopática |
| it | Fibrosi retroperitoneale correlata alle IgG4 | Fibrosi retroperitoneale · Malattia di Ormond |
| nl | IgG4-gerelateerde retroperitoneale fibrose | Idiopathische retroperitoneale fibrose · Ziekte van Ormond |
| pt | Fibrose retroperitoneal IgG4-relacionada | Doença de Ormond |
| pl | Włóknienie zaotrzewnowe zależne od IgG4 | Choroba Ormonda · Idiopatyczna włóknienie zaotrzewnowe |
| cs | IgG4 asociovaná retroperitoneální fibróza | Ormondova choroba · Idiopatická retroperitoneální fibróza |
| uk | Ретроперитонеальний фіброз, повязаний з IgG4 | Ідіопатичний ретроперитонеальний фіброз · Хвороба Ормонда |
| zh | IgG4相关性腹膜后纤维化 | 特发性腹膜后纤维化 |
| tr | IgG4--ilişkili retroperitoneal fibroz | Ormond hastalığı · İdiyopatik retroperitoneal fibroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228800 | BTNT | validated | |
| ICD-10 | K66.2 | E | specific | validated |
| ICD-11 | 4A43.0 | NTBT | index | validated |
| MONDO | 0018848 | E | validated | |
| MeSH | D012185 | E | validated | |
| UMLS | C0035357 | E | validated | |
| GARD | 9568 | E | validated | |
| MedDRA | 10038979 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:596448IgG4-related systemic disease
rare systemic and rheumatological diseases - ORPHA:165711Rare abdominal surgical disease
rare abdominal surgical diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Finland | Class only | Not yet validated | 16427494[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
43 annotations · validated 2025-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012531 | Pain | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002039 | Anorexia | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0031191 | Deep dermal perivascular inflammatory infiltrate | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0012378 | Fatigue | |
| HP:0030157 | Flank pain | |
| HP:0000126 | Hydronephrosis | |
| HP:0000822 | Hypertension | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0005310 | Large vessel vasculitis | |
| HP:0003419 | Low back pain | |
| HP:0001897 | Normocytic anemia | |
| HP:0000083 | Renal insufficiency | |
| HP:0012583 | Unilateral renal hypoplasia | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0002019 | Constipation | |
| HP:0001945 | Fever | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0012578 | Membranous nephropathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0010741 | Pedal edema | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0003262 | Smooth muscle antibody positivity | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| Very rare (<4-1%) | ||
| HP:0002639 | Budd-Chiari syndrome | |
| HP:0100518 | Dysuria | |
| HP:0000790 | Hematuria | |
| HP:0000034 | Hydrocele testis | |
| HP:0000802 | Impotence | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0008682 | Renal tubular epithelial necrosis | |
| HP:0100817 | Renovascular hypertension | |
| HP:0012877 | Retrograde ejaculation | |
| HP:0012871 | Varicocele | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 37868965[PMID]_31796497[PMID]_34669430[PMID]_
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/49041
- This record as JSON: /data/d/49041.json