IgG4-related systemic disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare systemic autoimmune disease characterized by mass-forming lesions with a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform fibrosis, often displaying obliterative phlebitis, and usually accompanied by elevated serum IgG4. Almost any organ may be affected, with pancreas, salivary gland, and orbit being the most common. Multi-organ involvement (synchronously or metachronously) is typical. Many patients show lymphadenopathy, most often involving the mediastinal, intra-abdominal, axillary, and cervical nodes. Symptoms are usually attributable to the mass effect of the lesions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related systemic disease | |
| fr | Maladie systémique liée à la présence d'anticorps IgG4 | MAG4 |
| de | IgG4-assoziierte Systemkrankheit | |
| es | Enfermedad sistémica asociada a IgG4 | |
| it | Malattia sistemica correlata alle IgG4 | |
| nl | IgG4-gerelateerde systemische ziekte | |
| pt | Doença sistémica IgG4-relacionada | |
| pl | Choroba układowa związana z IgG4 | Choroba związana z IgG4 · Systemowa choroba związana z IgG4 |
| cs | Systémové onemocnění související s IgG4 | |
| uk | Системне захворювання, повязане з IgG4 | |
| zh | IgG4-related systemic disease | IgG4-RD · IgG4-related disease |
| tr | IgG4-related systemic disease | IgG4-RD · IgG4-related disease |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A43.0 | NTBT | attributed | validated |
| MONDO | 0017287 | E | validated | |
| MONDO | 17287 | E | validated | |
| UMLS | C4087124 | E | validated | |
| MedDRA | 10077271 | 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 (1):
- ORPHA:284264IgG4-related disease
rare systemic and rheumatological diseases
Children (12):
- ORPHA:280302Autoimmune pancreatitis type 1
- ORPHA:449400IgG4-related aortitis
- ORPHA:79078IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395IgG4-related kidney disease
- ORPHA:63999IgG4-related mediastinitis
- ORPHA:238593IgG4-related mesenteritis
- ORPHA:449563IgG4-related ophthalmic disease
- ORPHA:449427IgG4-related pachymeningitis
- ORPHA:49041IgG4-related retroperitoneal fibrosis
- ORPHA:447764IgG4-related sclerosing cholangitis
- ORPHA:449432IgG4-related submandibular gland disease
- ORPHA:64744IgG4-related thyroid disease
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only | Validated | 21881964[PMID]_25360299[PMID]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 1.026 / 100 000 | Japan | Value and class | Validated | 21881964[PMID]_33906357[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.576 / 100 000 | Denmark | Value and class | Validated | 30931680[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.6885 / 100 000 | Denmark | Value and class | Validated | 30931680[PMID] |
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
30 annotations · validated 2024-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030992 | Abnormal pancreatic duct morphology | Diagnostic criterion |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0005421 | Decreased circulating complement C3 concentration | Diagnostic criterion |
| HP:0045042 | Decreased circulating complement C4 concentration | Diagnostic criterion |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0032300 | Increased circulating IgG4 level | Diagnostic criterion |
| HP:0001733 | Pancreatitis | |
| HP:0005200 | Retroperitoneal fibrosis | |
| HP:0030991 | Sclerosing cholangitis | |
| HP:0031281 | Sialadenitis | |
| Occasional (29-5%) | ||
| HP:0005339 | Abnormality of complement system | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0002923 | Rheumatoid factor positive | |
| Very rare (<4-1%) | ||
| HP:0032252 | Granuloma | |
| Excluded (0%) | ||
| HP:0032235 | Anti-La/SS-B antibody positivity | Diagnostic criterion |
| HP:0033555 | Anti-Ro/SS-A antibody positivity | Diagnostic criterion |
| HP:0033040 | Anti-Sm antibody positivity | Diagnostic criterion |
| HP:0033028 | Anti-U1 ribonucleoprotein antibody positivity | Diagnostic criterion |
| HP:0100280 | Crohn's disease | Diagnostic criterion |
| HP:0100778 | Cryoglobulinemia | Diagnostic criterion |
| HP:0001945 | Fever | Diagnostic criterion |
| HP:0001880 | Increased total eosinophil count | Diagnostic criterion |
| HP:0001882 | Leukopenia | Diagnostic criterion |
| HP:0032229 | Perinuclear antineutrophil antibody positivity | Diagnostic criterion |
| HP:0001744 | Splenomegaly | Diagnostic criterion |
| HP:0001873 | Thrombocytopenia | Diagnostic criterion |
Annotation source: 37868965[PMID]_29763000[PMID]_31796497[PMID]_21124086[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/596448
- This record as JSON: /data/d/596448.json