Schnitzler syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Chronic urticaria with macroglobulinemia Chronic urticaria with gammapathy |
| Number of Symptoms | 19 |
| OrphanetNr: | 37748 |
| OMIM Id: |
|
| ICD-10: |
L50.8 |
| UMLs: |
C0524988 |
| MeSH: |
D019873 |
| MedDRA: |
10062908 |
| Snomed: |
402415001 |
Prevalence, inheritance and age of onset:
| Prevalence: | 150 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare rheumatologic disease
-Rare systemic or rheumatologic disease Rare urticaria -Rare allergic disease -Rare skin disease Unexplained periodic fever syndrome -Rare systemic or rheumatologic disease |
Symptom Information:
|
|
(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
|
|
(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
|
|
(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0001025) | Urticaria | Very frequent [Orphanet] | 73 / 7739 | |||
|
|
(HPO:0000989) | Pruritus | Occasional [Orphanet] | 111 / 7739 | |||
|
|
(HPO:0012089) | Arteritis | Occasional [Orphanet] | 40 / 7739 | |||
|
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(HPO:0002665) | Lymphoma | Occasional [Orphanet] | 60 / 7739 | |||
|
|
(HPO:0005561) | Abnormality of bone marrow cell morphology | Occasional [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0001974) | Leukocytosis | Frequent [Orphanet] | 33 / 7739 | |||
|
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(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0002716) | Lymphadenopathy | Very frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
|
|
(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
|
|
(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|