IgG4-related aortitis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related aortitis | |
| fr | Aortite associée à IgG4 | |
| de | IgG4-assoziierte Aortitis | |
| es | Aortitis asociada a IgG4 | |
| it | Aortite correlata alle IgG4 | Periaortite IgG4-correlata |
| nl | IgG4-gerelateerde aortitis | IgG4-gerelateerde aortaontsteking |
| pt | Aortite IgG4-relacionada | |
| pl | Zapalenie aorty związane z IgG4 | Zapalenie okołoaortalne związane z IgG4 |
| cs | IgG4 asociovaná aortitida | IgG4 asociovaná periaortitida |
| uk | Аортит, повязаний з IgG4 | |
| zh | IgG4相关主动脉炎 | |
| tr | IgG4-ilişkili aortit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I77.6 | NTBT | attributed | validated |
| ICD-11 | 4A43.0 | NTBT | index | validated |
| MONDO | 0018672 | E | validated | |
| UMLS | C5569008 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_21124083[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
25 annotations · validated 2021-05-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032300 | Increased circulating IgG4 level | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012393 | Allergy | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002099 | Asthma | |
| HP:0002960 | Autoimmunity | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001945 | Fever | |
| HP:0032061 | Hypereosinophilia | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0012649 | Increased inflammatory response | |
| HP:0003419 | Low back pain | |
| HP:0012727 | Thoracic aortic aneurysm | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0430021 | Abnormal common carotid artery morphology | |
| HP:0002647 | Aortic dissection | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0004431 | Complement deficiency | |
| HP:0032230 | Cytoplasmic antineutrophil antibody positivity | |
| HP:0031252 | Dilated left subclavian artery | |
| HP:0000126 | Hydronephrosis | |
| HP:0005214 | Intestinal obstruction | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32234379[PMID]_29682110[PMID]_32710295[PMID]_33121641[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/449400
- This record as JSON: /data/d/449400.json