MCID: SCH002
MIFTS: 54

Schnitzler Syndrome

Categories: Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Schnitzler Syndrome

MalaCards integrated aliases for Schnitzler Syndrome:

Name: Schnitzler Syndrome 12 53 59 55 44 15 73
Chronic Urticaria with Macroglobulinemia 53 59
Chronic Urticaria with Gammopathy 53 59
Chronic Urticaria with Gammapathy 53

Characteristics:

Orphanet epidemiological data:

59
schnitzler syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



Summaries for Schnitzler Syndrome

NIH Rare Diseases : 53 Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.

MalaCards based summary : Schnitzler Syndrome, also known as chronic urticaria with macroglobulinemia, is related to arthritis and adult-onset still's disease. An important gene associated with Schnitzler Syndrome is IL1R1 (Interleukin 1 Receptor Type 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Histone Deacetylase Inhibitors and Givinostat hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related phenotypes are arthritis and splenomegaly

Wikipedia : 76 Schnitzler syndrome or Schnitzler''s syndrome is a rare disease characterised by onset around middle age... more...

Related Diseases for Schnitzler Syndrome

Diseases related to Schnitzler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 arthritis 29.5 IL18 IL1B IL1RN
2 adult-onset still's disease 29.0 CRP IL18 IL1B IL1R1 IL1RN
3 rheumatoid arthritis 29.0 CRP IL18 IL1B IL1R1 IL1RN
4 urticaria 10.5
5 neisseria meningitidis infection 10.1 IL1R1 IL1RN
6 cold urticaria 10.1 IL1R1 NLRP3
7 paratyphoid fever 10.1 CRP IL1R1
8 lymphoma 10.1
9 streptococcal meningitis 10.1 CRP IL1R1
10 acute cholangitis 10.1 CRP IL1RN
11 hyper-igd syndrome 10.1 CRP IL1RN
12 pyoderma gangrenosum 10.1 IL1R1 NLRP3
13 cartilage disease 10.1 CRP IL1RN
14 mevalonic aciduria 10.1 IL1RN NLRP3
15 pericardium disease 10.1 CRP IL1RN
16 orbital cellulitis 10.1 CRP IL1RN
17 acute orbital inflammation 10.1 CRP IL1RN
18 chronic meningitis 10.1 CRP NLRP3
19 gastric cancer, hereditary diffuse 10.1 IL1B IL1RN
20 temporal arteritis 10.1 CRP IL1RN
21 osteomyelitis 10.1 IL1B IL1RN
22 osteosclerotic myeloma 10.1 IL1B IL1RN
23 meningococcemia 10.1 IL1B IL1RN
24 hydrarthrosis 10.1 IL1B IL1RN
25 pericardial effusion 10.1 CRP NLRP3
26 root resorption 10.1 IL1B IL1RN
27 dengue shock syndrome 10.1 IL1B IL1RN
28 idiopathic neutropenia 10.1 IL1B IL1RN
29 cervical adenitis 10.1 IL1B NLRP3
30 pericoronitis 10.1 CRP IL1B
31 burns 10.0 CRP IL1B
32 somatoform disorder 10.0 IL1B IL1RN
33 chronic recurrent multifocal osteomyelitis 10.0 IL1B NLRP3
34 typhoid fever 10.0 CRP IL1B
35 gastric ulcer 10.0 IL1B IL1RN
36 suppurative otitis media 10.0 CRP IL1B
37 central nervous system vasculitis 10.0 CRP IL1B
38 peptic ulcer disease 10.0 IL1B IL1RN
39 blau syndrome 10.0 IL1B NLRP3
40 b-cell lymphomas 10.0
41 vasculitis 10.0
42 pharyngitis 10.0 CRP IL1B
43 scrub typhus 10.0 CRP IL1B
44 atrophic gastritis 10.0 IL1B IL1RN
45 spondylitis 10.0 CRP IL1RN
46 perinatal necrotizing enterocolitis 10.0 CRP IL1B
47 aggressive periodontitis 10.0 IL1B IL1RN
48 palindromic rheumatism 10.0 CRP IL1B
49 extrinsic cardiomyopathy 10.0 CRP IL1B
50 pleural disease 10.0 CRP IL1B

Graphical network of the top 20 diseases related to Schnitzler Syndrome:



Diseases related to Schnitzler Syndrome

Symptoms & Phenotypes for Schnitzler Syndrome

Human phenotypes related to Schnitzler Syndrome:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
2 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
5 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
6 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
7 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
8 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
9 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
10 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
11 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
12 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
13 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
14 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
15 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
16 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
17 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
18 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
19 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
20 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
21 increased igm level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003496

MGI Mouse Phenotypes related to Schnitzler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CRP IL18 IL1B IL1R1 IL1RN
2 homeostasis/metabolism MP:0005376 9.63 CRP IL18 IL1B IL1R1 IL1RN NLRP3
3 immune system MP:0005387 9.43 CRP IL18 IL1B IL1R1 IL1RN NLRP3
4 integument MP:0010771 9.02 IL18 IL1B IL1R1 IL1RN NLRP3

Drugs & Therapeutics for Schnitzler Syndrome

Drugs for Schnitzler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Histone Deacetylase Inhibitors Phase 2
2 Givinostat hydrochloride Phase 2
3 Antibodies, Monoclonal Phase 2
4 Antibodies Phase 2
5 Immunologic Factors Phase 2
6 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of ITF2357 in AIS Unknown status NCT00442182 Phase 2 ITF2357
2 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2 Ilaris
3 Ilaris® Effects in Schnitzler Syndrome (ILESCH) Completed NCT01390350 Phase 2 Canakinumab;Placebo
4 Efficacy and Safety of Canakinumab in Schnitzler Syndrome Completed NCT01276522 Phase 2 Canakinumab
5 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
6 Pilot Study of Dapansutrile Capsules in Schnitzler's Syndrome Recruiting NCT03595371 Phase 2 dapansutrile
7 Tocilizumab in Patients With Schnitzler's Syndrome Recruiting NCT03046381 Phase 2 Tocilizumab
8 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296

Search NIH Clinical Center for Schnitzler Syndrome

Cochrane evidence based reviews: schnitzler syndrome

Genetic Tests for Schnitzler Syndrome

Anatomical Context for Schnitzler Syndrome

MalaCards organs/tissues related to Schnitzler Syndrome:

41
Bone, Liver, Spleen, Skin, B Cells, T Cells, Lymph Node

Publications for Schnitzler Syndrome

Articles related to Schnitzler Syndrome:

(show top 50) (show all 96)
# Title Authors Year
1
Schnitzler syndrome with IgG gammopathy and elevated IL-1I^ and IL-17 in skin biopsy. ( 29162318 )
2018
2
The elusive pathogenesis of Schnitzler syndrome. ( 29496698 )
2018
3
Schnitzler syndrome associated with hairy cell leukemia presenting with chronic urticaria and arthralgias. ( 29693079 )
2018
4
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome. ( 29284595 )
2018
5
A Rare but Fascinating Disorder: Case Collection of Patients with Schnitzler Syndrome. ( 29707401 )
2018
6
Use of skin biomarker profiles to distinguish Schnitzler syndrome from chronic spontaneous urticaria: results of a pilot study. ( 28580686 )
2018
7
Ibrutinib for the Management of Schnitzler Syndrome: A Novel Therapy for a Rare Condition. ( 29558252 )
2018
8
Schnitzler syndrome in a patient with a family history of monoclonal gammopathy. ( 29469761 )
2018
9
Schnitzler syndrome co-occurring with idiopathic multicentric Castleman disease that responds to anti-IL-1 therapy: A case report and clue to pathophysiology. ( 30108026 )
2018
10
Schnitzler Syndrome: A Case Report and Review of Literature. ( 30065595 )
2018
11
Association of CCL2 with systemic inflammation in Schnitzler syndrome. ( 30339714 )
2018
12
Radiotherapy for a breast cancer patient with Schnitzler syndrome: Report of acute toxicity and early follow-up. ( 28932175 )
2017
13
Beyond Urticaria: Schnitzler Syndrome. ( 28552842 )
2017
14
Schnitzler syndrome: A rare cause of chronic recalcitrant urticaria successfully treated with Anakinra. ( 29027204 )
2017
15
Schnitzler Syndrome With Response to Anakinra Monotherapy: 7 Years of Follow-up. ( 28728792 )
2017
16
Aortitis: A new feature of Schnitzler syndrome. ( 28971133 )
2017
17
Schnitzler syndrome, a rare autoinflammatory disease. Complete response to IL-1 blockade. ( 29291047 )
2017
18
Kidney involvement in the Schnitzler syndrome, a rare disease. ( 29225799 )
2017
19
Schnitzler Syndrome With Delirium and Vertigo: The Utility of Neurologic Manifestations in Diagnosis. ( 28686783 )
2017
20
Schnitzler Syndrome: a Review. ( 28718061 )
2017
21
Clinical characterization and long-term follow-up of Schnitzler syndrome. ( 27238847 )
2016
22
Dysregulation of proinflammatory versus anti-inflammatory human TH17A cell functionalities in the autoinflammatory Schnitzler syndrome. ( 27040374 )
2016
23
Peripheral T-cell lymphoma mimicking Schnitzler syndrome. ( 27321901 )
2016
24
Schnitzler Syndrome: A Dramatic Response to Anakinra. ( 27017618 )
2016
25
Efficacy and safety of canakinumab in Schnitzler syndrome: AA multicenter randomized placebo-controlled study. ( 27658762 )
2016
26
The Schnitzler syndrome: chronic urticaria in disguise: a single-centre report of 11 cases and a critical reappraisal of the literature. ( 27606610 )
2016
27
Interleukin-1 receptor antagonist (anakinra) for Schnitzler syndrome. ( 26864191 )
2016
28
Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients. ( 27564982 )
2016
29
Schnitzler Syndrome Without a Monoclonal Gammopathy: A Case Report. ( 27358310 )
2016
30
Occurrence of Rheumatoid Arthritis in a Patient Treated with Anakinra for Schnitzler Syndrome: A Case Report. ( 27371651 )
2016
31
Complete remission of Schnitzler syndrome and WaldenstrAPm macroglobulinemia under rituximab-cyclophosphamide-dexamethasone. ( 25471063 )
2015
32
Schnitzler syndrome responding to interleukin-1 antagonist anakinra. ( 26016961 )
2015
33
Schnitzler syndrome. ( 25441494 )
2015
34
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. ( 25239704 )
2014
35
Urticarial vasculitis and Schnitzler syndrome. ( 24262694 )
2014
36
Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the &amp;quot;hot knees&amp;quot; sign differential diagnosis. ( 24652142 )
2014
37
Hyperimmunoglobulinemia E and efficacy of elimination diet in two patients with Schnitzler syndrome. ( 25398167 )
2014
38
Schnitzler syndrome. ( 24433601 )
2014
39
Successful treatment of Schnitzler syndrome with canakinumab. ( 25279482 )
2014
40
Successful treatment of Schnitzler syndrome with cyclosporine. ( 24602077 )
2014
41
Canakinumab in Schnitzler syndrome. ( 22901459 )
2013
42
Effect of in vitro and in vivo anakinra on cytokines production in Schnitzler syndrome. ( 23527164 )
2013
43
Schnitzler syndrome. ( 23735222 )
2013
44
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. ( 24046179 )
2013
45
Schnitzler syndrome: an under-diagnosed clinical entity. ( 23812931 )
2013
46
Clinical and histopathologic review of Schnitzler syndrome: the Mayo Clinic experience (1972-2011). ( 22627038 )
2012
47
Complete remission in 3 of 3 anti-IL-6-treated patients with Schnitzler syndrome. ( 22154381 )
2012
48
Schnitzler syndrome complicated by membranous nephropathy. ( 23164418 )
2012
49
Chronic urticaria with monoclonal IgG gammopathy: a clinical variant of Schnitzler syndrome? ( 22840258 )
2012
50
Increased angiogenesis and enhanced bone formation in patients with IgM monoclonal gammopathy and urticarial skin rash: new insight into the biology of Schnitzler syndrome. ( 22689688 )
2012

Variations for Schnitzler Syndrome

Expression for Schnitzler Syndrome

Search GEO for disease gene expression data for Schnitzler Syndrome.

Pathways for Schnitzler Syndrome

Pathways related to Schnitzler Syndrome according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CRP IL18 IL1B IL1R1 IL1RN NLRP3
2
Show member pathways
13.02 IL18 IL1B IL1R1 IL1RN
3
Show member pathways
12.48 IL18 IL1B NLRP3
4
Show member pathways
12.28 IL18 IL1B IL1R1
5
Show member pathways
11.98 IL1B IL1R1 IL1RN
6
Show member pathways
11.78 IL18 IL1B IL1R1
7
Show member pathways
11.75 IL18 IL1B IL1R1
8
Show member pathways
11.7 IL18 IL1B IL1R1 IL1RN
9
Show member pathways
11.66 IL18 IL1B IL1R1
10 11.56 IL18 IL1B
11 11.5 IL1B NLRP3
12 11.45 IL18 IL1B IL1R1
13 11.35 IL18 IL1B IL1RN
14 11.34 IL18 IL1B
15 11.27 IL18 IL1B
16 11.26 IL18 IL1B
17
Show member pathways
11.19 IL1B IL1R1
18 11.09 IL18 IL1B
19 11.05 IL18 IL1B NLRP3
20 11.04 IL18 IL1B
21 10.95 IL18 IL1B IL1R1 IL1RN
22 10.85 IL18 IL1B
23 10.78 IL18 IL1R1
24 10.32 IL18 IL1B IL1R1 NLRP3
25 10.25 IL18 IL1B

GO Terms for Schnitzler Syndrome

Cellular components related to Schnitzler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.1 CRP IL18 IL1B IL1R1 IL1RN NLRP3

Biological processes related to Schnitzler Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.81 IL18 IL1B IL1R1 IL1RN
2 regulation of signaling receptor activity GO:0010469 9.79 IL18 IL1B IL1RN
3 positive regulation of gene expression GO:0010628 9.77 CRP IL18 IL1B
4 cellular response to lipopolysaccharide GO:0071222 9.72 IL1B IL1RN NLRP3
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.71 IL18 IL1B NLRP3
6 neutrophil chemotaxis GO:0030593 9.64 IL1B IL1RN
7 positive regulation of JNK cascade GO:0046330 9.63 IL1B IL1RN
8 memory GO:0007613 9.63 IL1B IL1RN
9 cellular response to organic cyclic compound GO:0071407 9.62 IL18 IL1B
10 regulation of inflammatory response GO:0050727 9.62 IL1R1 NLRP3
11 cytokine-mediated signaling pathway GO:0019221 9.62 IL18 IL1B IL1R1 IL1RN
12 response to glucocorticoid GO:0051384 9.61 IL1B IL1RN
13 positive regulation of interleukin-6 production GO:0032755 9.59 IL1B IL1RN
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 IL18 IL1B
15 positive regulation of JUN kinase activity GO:0043507 9.58 IL1B IL1RN
16 lipopolysaccharide-mediated signaling pathway GO:0031663 9.57 IL18 IL1B
17 response to interleukin-1 GO:0070555 9.56 IL1R1 IL1RN
18 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.52 IL18 IL1B
19 interleukin-6 production GO:0032635 9.49 IL18 IL1B
20 negative regulation of glutamate secretion GO:0014050 9.48 IL1B IL1RN
21 positive regulation of T-helper 2 cell differentiation GO:0045630 9.46 IL18 NLRP3
22 positive regulation of neuroinflammatory response GO:0150078 9.43 IL18 IL1B
23 interleukin-1-mediated signaling pathway GO:0070498 9.43 IL1B IL1R1 IL1RN
24 interleukin-1 beta production GO:0032611 9.4 IL1B NLRP3
25 chronic inflammatory response to antigenic stimulus GO:0002439 9.37 IL1B IL1RN
26 positive regulation of interferon-gamma production GO:0032729 9.33 IL18 IL1B IL1R1
27 positive regulation of T-helper 1 cell cytokine production GO:2000556 9.13 IL18 IL1B IL1R1
28 inflammatory response GO:0006954 9.1 CRP IL18 IL1B IL1R1 IL1RN NLRP3

Molecular functions related to Schnitzler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.13 IL18 IL1B IL1RN
2 interleukin-1 receptor binding GO:0005149 8.62 IL1B IL1RN

Sources for Schnitzler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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