IgG4-related thyroid disease
Synonyms: Riedel disease · Riedel thyroiditis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgG4-related thyroid disease | Riedel disease · Riedel thyroiditis |
| fr | Maladie thyroïdienne associée à IgG4 | Maladie de Riedel · Thyroïdite de Riedel |
| de | Schilddrüsenkrankheit, IgG4-assoziierte | Riedel-Krankheit · Riedel-Thyreoiditis |
| es | Enfermedad tiroidea asociada a IgG4 | Enfermedad de Riedel · Tiroiditis de Riedel |
| it | Malattia tiroidea correlata a IgG4 | Malattia di Riedel · Tiroidite di Riedel |
| nl | IgG4-gerelateerde aandoening van schildklier | Riedel-thyreoïditis · Ziekte van Riedel |
| pt | Doença da tiroide IgG4-relacionada | Tiroidite de Riedel |
| pl | Choroba tarczycy związana z IgG4 | Choroba Riedela · Zapalenie tarczycy Riedela |
| cs | Riedelova struma | Riedelova tyreoiditida · IgG4 asociované onemocnění štítné žlázy |
| uk | Захворювання щитовидної залози, повязані з IgG4 | Хвороба Ріделя · Тиреоїдит Ріделя |
| zh | IgG4相关性甲状腺疾病 | Riedel甲状腺炎 |
| tr | IgG4-ilişkili tiroid hastalığı | Riedel hastalığı · Riedel tiroiditi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E06.5 | NTBT | inclusion | validated |
| ICD-11 | 4A43.0 | NTBT | index | validated |
| MONDO | 0018992 | E | validated | |
| UMLS | C0154162 | E | validated | |
| MedDRA | 10039142 | 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:177101Rare adult hypothyroidism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.06 / 100 000 | United States | Value and class | Validated | 3906289[PMID]_21832114[PMID] |
| Point prevalence | Unknown | — | Worldwide | 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
25 annotations · validated 2021-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000853 | Goiter | |
| HP:0100646 | Thyroiditis | |
| Frequent (79-30%) | ||
| HP:0032069 | Anti-thyroglobulin antibody positivity | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0000821 | Hypothyroidism | |
| HP:0032300 | Increased circulating IgG4 level | |
| Occasional (29-5%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002015 | Dysphagia | |
| HP:0009798 | Euthyroid goiter | |
| HP:0100647 | Graves disease | |
| HP:0002901 | Hypocalcemia | |
| HP:0005994 | Nodular goiter | |
| HP:0002777 | Tracheal stenosis | |
| HP:0001605 | Vocal cord paralysis | |
| Very rare (<4-1%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0032039 | Abnormality of the ocular adnexa | |
| HP:0012503 | Abnormality of the pituitary gland | |
| HP:0100732 | Pancreatic fibrosis | |
| HP:0005200 | Retroperitoneal fibrosis | |
| HP:0030991 | Sclerosing cholangitis | |
| HP:0031281 | Sialadenitis | |
| HP:0011784 | Thyrotoxicosis with diffuse goiter | |
| Excluded (0%) | ||
| HP:0012393 | Allergy | |
| HP:0002664 | Neoplasm | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28101487[PMID]_33649038[PMID]_33311000[PMID]_30889549[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64744
- This record as JSON: /data/d/64744.json