Schnitzler syndrome
Synonyms: Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schnitzler syndrome | Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia |
| fr | Syndrome de Schnitzler | Urticaire chronique avec gammopathie · Urticaire chronique avec macroglobulinémie |
| de | Schnitzler-Syndrom | Chronische Urtikaria mit Gammopathie · Chronische Urtikaria mit Makroglobulinämie |
| es | Síndrome de Schnitzler | Urticaria crónica con gammapatía · Urticaria crónica con macroglobulinemia |
| it | Sindrome di Schnitzler | Orticaria cronica con gammapatia · Orticaria cronica con macroglobulinemia |
| nl | Syndroom van Schnitzler | Chronische netelroos met gammopathie · Chronische netelroos met macroglobulinemie · Chronische urticaria met gammopathie · Chronische urticaria met macroglobulinemie |
| pt | Síndrome Schnitzler | Utricária crónica com gamopatia · Utricária crónica com macroglobulinemia |
| pl | Zespół Schnitzlera | Pokrzywka przewlekła z makroglobulinemią · Porzywka przewlekła z gammapatią |
| cs | Schnitzlerové syndrom | Chronická kopřivka provázející gamapatii · Chronická kopřivka s makroglobulinemií |
| uk | Синдром Шніцлера | Хронічна кропивянка з гамопатією · Хронічна кропивянка з макроглобулінемією |
| zh | Schnitzler综合征 | 慢性荨麻疹-丙种球蛋白病 |
| tr | Schnitzler sendromu | Gammopatili kronik ürtiker · Makroglobulinemili kronik ürtiker |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L50.8 | NTBT | attributed | validated |
| ICD-11 | EB03 | NTBT | index | validated |
| MONDO | 0018304 | E | validated | |
| MeSH | D019873 | E | validated | |
| UMLS | C0524988 | E | validated | |
| GARD | 12390 | E | validated | |
| MedDRA | 10062908 | 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:102237Unexplained periodic fever syndrome
rare systemic and rheumatological 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 |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0002653 | Bone pain | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0011001 | Increased bone mineral density | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0012733 | Macule | |
| HP:0003326 | Myalgia | |
| HP:0200034 | Papule | |
| HP:0000988 | Skin rash | |
| HP:0001744 | Splenomegaly | |
| HP:0001025 | Urticaria | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0012378 | Fatigue | |
| HP:0001974 | Increased total leukocyte count | |
| Occasional (29-5%) | ||
| HP:0002716 | Lymphadenopathy | |
| HP:0002665 | Lymphoma | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000989 | Pruritus | |
| HP:0002633 | Vasculitis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/37748
- This record as JSON: /data/d/37748.json