MCID: SCH002
MIFTS: 54

Schnitzler Syndrome

Categories: Rare diseases, Bone diseases, Immune 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 PEDF Induced Signaling. The drugs Givinostat hydrochloride and Histone Deacetylase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related phenotypes are skin rash and pruritus

Wikipedia : 76 Schnitzler syndrome is a rare disease characterised by onset around middle age of chronic hives... 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 110)
# Related Disease Score Top Affiliating Genes
1 arthritis 28.5 IL18 IL1B IL1RN
2 adult-onset still's disease 27.8 IL18 IL1B IL1R1 IL1RN
3 rheumatoid arthritis 26.9 CD40LG IL18 IL1B IL1R1 IL1RN
4 neisseria meningitidis infection 10.4 IL1R1 IL1RN
5 cold urticaria 10.4 IL1R1 NLRP3
6 streptococcal meningitis 10.4 CD40LG IL1R1
7 pleuropneumonia 10.3 CD40LG IL1R1
8 urticaria 10.3
9 mevalonic aciduria 10.3 IL1RN NLRP3
10 tolosa-hunt syndrome 10.3 CD40LG NLRP3
11 hypersensitivity reaction type iv disease 10.3 CD40LG IL1RN
12 brucellosis 10.2 CD40LG IL1RN
13 gastric cancer, hereditary diffuse 10.2 IL1B IL1RN
14 cerebral artery occlusion 10.2 IL1B IL1RN
15 conjunctival disease 10.2 CD40LG NLRP3
16 temporal arteritis 10.2 CD40LG IL1RN
17 meningococcemia 10.2 IL1B IL1RN
18 hydrarthrosis 10.2 IL1B IL1RN
19 root resorption 10.2 IL1B IL1RN
20 extrapulmonary tuberculosis 10.2 IL1B IL1RN
21 cervical adenitis 10.1 IL1B NLRP3
22 dengue shock syndrome 10.1 IL1B IL1RN
23 chronic recurrent multifocal osteomyelitis 10.1 IL1B NLRP3
24 chorioamnionitis 10.1 IL1B IL1R1
25 suppurative otitis media 10.1 CD40LG IL1B
26 central nervous system vasculitis 10.1 CD40LG IL1B
27 somatoform disorder 10.1 IL1B IL1RN
28 jejunoileitis 10.1 CD40LG IL1B
29 gastric ulcer 10.1 IL1B IL1RN
30 peptic ulcer disease 10.1 IL1B IL1RN
31 blau syndrome 10.1 IL1B NLRP3
32 scrub typhus 10.1 CD40LG IL1B
33 aggressive periodontitis 10.1 IL1B IL1RN
34 middle ear disease 10.1 CD40LG IL1B
35 commensal bacterial infectious disease 10.1 CD40LG IL1B
36 q fever 10.1 CD40LG IL1B
37 atrophic gastritis 10.1 IL1B IL1RN
38 extrinsic cardiomyopathy 10.1 CD40LG IL1B
39 spondylitis 10.1 CD40LG IL1RN
40 chikungunya 10.1 CD40LG IL1B
41 duodenal ulcer 10.0 IL1B IL1RN
42 leptospirosis 10.0 CD40LG IL1B
43 osteomyelitis 10.0 IL1B IL1RN
44 lyme disease 10.0 CD40LG IL1B
45 lymphoma 10.0
46 pneumoconiosis 10.0 IL1B NLRP3
47 helicobacter pylori infection 10.0 IL1B IL1RN
48 necrotizing fasciitis 10.0 IL18 IL1RN
49 primary bacterial infectious disease 10.0 CD40LG IL1B
50 toxoplasmosis 9.9 CD40LG 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 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
2 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
3 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
4 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
5 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
7 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
8 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
9 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
10 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
11 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
12 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
13 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
14 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
15 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
16 increased igm level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003496
17 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
18 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
19 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
20 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
21 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034

GenomeRNAi Phenotypes related to Schnitzler Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 CD40LG IL18 IL1B NLRP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 CD40LG IL18 IL1B NLRP3

MGI Mouse Phenotypes related to Schnitzler Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 IL1R1 IL1RN CD40LG NLRP3 IL18 IL1B
2 cardiovascular system MP:0005385 9.8 IL1B IL1R1 IL1RN CD40LG IL18
3 homeostasis/metabolism MP:0005376 9.8 IL1R1 IL1RN CD40LG NLRP3 IL18 IL1B
4 immune system MP:0005387 9.73 IL1R1 IL1RN CD40LG NLRP3 IL18 IL1B
5 integument MP:0010771 9.63 IL1R1 IL1RN CD40LG NLRP3 IL18 IL1B
6 mortality/aging MP:0010768 9.43 IL1R1 IL1RN CD40LG NLRP3 IL18 IL1B
7 skeleton MP:0005390 9.02 IL1R1 IL1RN CD40LG NLRP3 IL1B

Drugs & Therapeutics for Schnitzler Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Givinostat hydrochloride Phase 2
2 Histone Deacetylase Inhibitors Phase 2
3 Antibodies Phase 2
4 Immunoglobulins Phase 2
5 Antibodies, Monoclonal 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 Efficacy and Safety of Canakinumab in Schnitzler Syndrome Completed NCT01276522 Phase 2 Canakinumab
4 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
5 Tocilizumab in Patients With Schnitzler's Syndrome Recruiting NCT03046381 Phase 2 Tocilizumab
6 Ilaris® Effects in Schnitzler Syndrome (ILESCH) Active, not recruiting NCT01390350 Phase 2 Canakinumab;Placebo
7 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, Myeloid

Publications for Schnitzler Syndrome

Articles related to Schnitzler Syndrome:

(show top 50) (show all 92)
# 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
Radiotherapy for a breast cancer patient with Schnitzler syndrome: Report of acute toxicity and early follow-up. ( 28932175 )
2017
10
Beyond Urticaria: Schnitzler Syndrome. ( 28552842 )
2017
11
Schnitzler syndrome: A rare cause of chronic recalcitrant urticaria successfully treated with Anakinra. ( 29027204 )
2017
12
Schnitzler Syndrome With Response to Anakinra Monotherapy: 7 Years of Follow-up. ( 28728792 )
2017
13
Aortitis: A new feature of Schnitzler syndrome. ( 28971133 )
2017
14
Schnitzler syndrome, a rare autoinflammatory disease. Complete response to IL-1 blockade. ( 29291047 )
2017
15
Kidney involvement in the Schnitzler syndrome, a rare disease. ( 29225799 )
2017
16
Schnitzler Syndrome: a Review. ( 28718061 )
2017
17
Schnitzler Syndrome With Delirium and Vertigo: The Utility of Neurologic Manifestations in Diagnosis. ( 28686783 )
2017
18
Clinical characterization and long-term follow-up of Schnitzler syndrome. ( 27238847 )
2016
19
Dysregulation of proinflammatory versus anti-inflammatory human TH17A cell functionalities in the autoinflammatory Schnitzler syndrome. ( 27040374 )
2016
20
Peripheral T-cell lymphoma mimicking Schnitzler syndrome. ( 27321901 )
2016
21
Schnitzler Syndrome: A Dramatic Response to Anakinra. ( 27017618 )
2016
22
Efficacy and safety of canakinumab in Schnitzler syndrome: AA multicenter randomized placebo-controlled study. ( 27658762 )
2016
23
The Schnitzler syndrome: chronic urticaria in disguise: a single-centre report of 11 cases and a critical reappraisal of the literature. ( 27606610 )
2016
24
Interleukin-1 receptor antagonist (anakinra) for Schnitzler syndrome. ( 26864191 )
2016
25
Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients. ( 27564982 )
2016
26
Schnitzler Syndrome Without a Monoclonal Gammopathy: A Case Report. ( 27358310 )
2016
27
Occurrence of Rheumatoid Arthritis in a Patient Treated with Anakinra for Schnitzler Syndrome: A Case Report. ( 27371651 )
2016
28
Complete remission of Schnitzler syndrome and WaldenstrAPm macroglobulinemia under rituximab-cyclophosphamide-dexamethasone. ( 25471063 )
2015
29
Schnitzler syndrome responding to interleukin-1 antagonist anakinra. ( 26016961 )
2015
30
Schnitzler syndrome. ( 25441494 )
2015
31
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. ( 25239704 )
2014
32
Urticarial vasculitis and Schnitzler syndrome. ( 24262694 )
2014
33
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
34
Hyperimmunoglobulinemia E and efficacy of elimination diet in two patients with Schnitzler syndrome. ( 25398167 )
2014
35
Schnitzler syndrome. ( 24433601 )
2014
36
Successful treatment of Schnitzler syndrome with canakinumab. ( 25279482 )
2014
37
Successful treatment of Schnitzler syndrome with cyclosporine. ( 24602077 )
2014
38
Canakinumab in Schnitzler syndrome. ( 22901459 )
2013
39
Effect of in vitro and in vivo anakinra on cytokines production in Schnitzler syndrome. ( 23527164 )
2013
40
Schnitzler syndrome. ( 23735222 )
2013
41
Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far. ( 24046179 )
2013
42
Schnitzler syndrome: an under-diagnosed clinical entity. ( 23812931 )
2013
43
Clinical and histopathologic review of Schnitzler syndrome: the Mayo Clinic experience (1972-2011). ( 22627038 )
2012
44
Complete remission in 3 of 3 anti-IL-6-treated patients with Schnitzler syndrome. ( 22154381 )
2012
45
Schnitzler syndrome complicated by membranous nephropathy. ( 23164418 )
2012
46
Chronic urticaria with monoclonal IgG gammopathy: a clinical variant of Schnitzler syndrome? ( 22840258 )
2012
47
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
48
Dermal interleukin-1 expression and effective and long-lasting therapy with interleukin-1 receptor antagonist anakinra in Schnitzler syndrome. ( 22334118 )
2012
49
Efficacy and safety of the interleukin-1 antagonist rilonacept in Schnitzler syndrome: an open-label study. ( 22583335 )
2012
50
Elevated interleukin-18 secretion from monoclonal IgM+ B cells in a patient with Schnitzler syndrome. ( 22890741 )
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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 CD40LG IL18 IL1B IL1R1 IL1RN NLRP3
2
Show member pathways
13.33 CD40LG IL18 IL1B IL1R1 IL1RN
3
Show member pathways
13.09 CD40LG IL18 IL1B IL1R1
4
Show member pathways
12.99 CD40LG IL18 IL1B IL1R1
5
Show member pathways
12.98 CD40LG IL18 IL1B IL1R1 IL1RN
6
Show member pathways
12.52 IL18 IL1B NLRP3
7
Show member pathways
12.43 CD40LG IL1B IL1R1
8
Show member pathways
12.39 CD40LG IL1B IL1R1
9 12.29 CD40LG IL1B IL1RN
10
Show member pathways
12.2 CD40LG IL1B IL1R1
11
Show member pathways
12.16 IL18 IL1B IL1R1
12
Show member pathways
12.02 IL1B IL1R1 IL1RN
13
Show member pathways
11.96 IL18 IL1B IL1R1
14
Show member pathways
11.82 IL18 IL1B IL1R1
15
Show member pathways
11.7 IL18 IL1B IL1R1 IL1RN
16
Show member pathways
11.69 IL18 IL1B IL1R1
17 11.62 IL18 IL1B
18 11.59 IL18 IL1B
19 11.56 CD40LG IL1B IL1R1
20 11.53 IL1B NLRP3
21 11.45 IL18 IL1B IL1R1
22
Show member pathways
11.44 CD40LG IL1B
23 11.37 IL18 IL1B
24 11.29 IL18 IL1B
25
Show member pathways
11.24 IL1B IL1R1
26 11.19 CD40LG IL18 IL1B
27 11.13 IL18 IL1B
28 11.08 IL18 IL1B
29 11.05 IL18 IL1B NLRP3
30 10.95 IL18 IL1B IL1R1 IL1RN
31 10.89 IL18 IL1B
32 10.83 IL18 IL1R1
33 10.32 IL18 IL1B IL1R1 NLRP3
34 10.28 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 CD40LG IL18 IL1B IL1R1 IL1RN NLRP3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.76 CD40LG IL18 IL1B IL1RN
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 CD40LG IL1B NLRP3
3 regulation of inflammatory response GO:0050727 9.58 IL1R1 NLRP3
4 cellular response to organic cyclic compound GO:0071407 9.58 IL18 IL1B
5 positive regulation of T cell proliferation GO:0042102 9.57 CD40LG IL1B
6 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.56 IL18 IL1B
7 cytokine-mediated signaling pathway GO:0019221 9.56 IL18 IL1B IL1R1 IL1RN
8 positive regulation of interferon-gamma production GO:0032729 9.55 IL18 IL1B
9 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.54 IL1B NLRP3
10 interleukin-1-mediated signaling pathway GO:0070498 9.54 IL1B IL1R1 IL1RN
11 lipopolysaccharide-mediated signaling pathway GO:0031663 9.52 IL18 IL1B
12 positive regulation of interleukin-4 production GO:0032753 9.51 CD40LG NLRP3
13 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.48 IL18 IL1B
14 positive regulation of T-helper 2 cell differentiation GO:0045630 9.43 IL18 NLRP3
15 interleukin-6 production GO:0032635 9.4 IL18 IL1B
16 immune response GO:0006955 9.35 CD40LG IL18 IL1B IL1R1 IL1RN
17 fever generation GO:0001660 9.32 IL1B IL1RN
18 interleukin-1 beta production GO:0032611 9.16 IL1B NLRP3
19 inflammatory response GO:0006954 9.02 CD40LG IL18 IL1B IL1RN NLRP3

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 8.96 IL1B IL1RN
2 cytokine activity GO:0005125 8.92 CD40LG IL18 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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