Schnitzler syndrome

Summary

Schnitzler syndrome (MONDO:0018304) is a disease and 9 clinical trials. Top therapeutic interventions include canakinumab, rilonacept, and goflikicept. A subtype of autoinflammatory syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 21
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		150	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0000988	Skin rash	Very frequent (80-99%)
HP:0001025	Urticaria	Very frequent (80-99%)
HP:0001369	Arthritis	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0001945	Fever	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0002653	Bone pain	Very frequent (80-99%)
HP:0002829	Arthralgia	Very frequent (80-99%)
HP:0003326	Myalgia	Very frequent (80-99%)
HP:0003496	Increased circulating IgM level	Very frequent (80-99%)
HP:0011001	Increased bone mineral density	Very frequent (80-99%)
HP:0012733	Macule	Very frequent (80-99%)
HP:0200034	Papule	Very frequent (80-99%)
HP:0001903	Anemia	Frequent (30-79%)
HP:0001974	Leukocytosis	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0000989	Pruritus	Occasional (5-29%)
HP:0002633	Vasculitis	Occasional (5-29%)
HP:0002665	Lymphoma	Occasional (5-29%)
HP:0002716	Lymphadenopathy	Occasional (5-29%)
HP:0009830	Peripheral neuropathy	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Schnitzler syndrome
Mondo ID	MONDO:0018304
EFO	EFO:1001165
MeSH	D019873
Orphanet	37748
DOID	DOID:4371
ICD-11	1867840545
SNOMED CT	402415001
UMLS	C0524988
MedGen	141892
GARD	0012390
MedDRA	10062908
NORD	1696
Is cancer (heuristic)	no

Also known as: chronic urticaria with gammapathy · chronic urticaria with gammopathy · chronic urticaria with macroglobulinemia

Disease family

This is a subtype of autoinflammatory syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › autoinflammatory syndrome › Schnitzler syndrome

Related subtypes (36): cherubism, chronic recurrent multifocal osteomyelitis, Pelger-Huet-like anomaly and episodic fever with abdominal pain, pyogenic arthritis-pyoderma gangrenosum-acne syndrome, psoriasis 14, pustular, autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, periodic fever syndrome, infantile onset panniculitis with uveitis and systemic granulomatosis, idiopathic recurrent pericarditis, pyoderma gangrenosum-acne-suppurative hidradenitis syndrome, neonatal inflammatory skin and bowel disease, magic syndrome, autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis, PFAPA syndrome, pyoderma gangrenosum, SAPHO syndrome, sarcoidosis, adult-onset Still disease, systemic-onset juvenile idiopathic arthritis, VEXAS syndrome, autoinflammatory syndrome, familial, Behcet-like, CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome, type 1 interferonopathy, autoinflammatory disease, X-linked, autoinflammatory syndrome with immunodeficiency, early-onset pulmonary and cutaneous vasculitis, autoinflammatory syndrome due to TBK1 deficiency, F12-associated cold autoinflammatory syndrome, neonatal-onset severe multisystemic autoinflammatory disease with increased IL18, SAMD9L-associated autoinflammatory syndrome, autoinflammatory syndrome of childhood, autoinflammatory disease, systemic, with vasculitis, granulomatous autoinflammatory syndrome of childhood, autoinflammatory disease, multisystem, with immune dysregulation, X-linked, PAPASH syndrome, Sharpin-related autoinflammatory syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Canakinumab, Goflikicept, Tocilizumab.

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	6
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01045772	PHASE2	COMPLETED	Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS)
NCT01245127	PHASE2	COMPLETED	Ilaris (Canakinumab) in the Schnitzler Syndrome
NCT01276522	PHASE2	COMPLETED	Efficacy and Safety of Canakinumab in Schnitzler Syndrome
NCT01390350	PHASE2	COMPLETED	Ilaris® Effects in Schnitzler Syndrome (ILESCH)
NCT03595371	PHASE2	TERMINATED	Pilot Study of Dapansutrile Capsules in Schnitzler’s Syndrome
NCT04213274	PHASE2	WITHDRAWN	Study of the Efficacy and Safety of RPH-104 in Adult Subjects With Schnitzler Syndrome
NCT05200715	Not specified	RECRUITING	AutoInflammatory Disease Alliance Registry (AIDA)
NCT07598422	Not specified	NOT_YET_RECRUITING	A Study to Assess the Effectiveness and Safety of Canakinumab in Clinical Use in Patients With Schnitzler’s Syndrome
NCT00933296	Not specified	COMPLETED	Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CANAKINUMAB	4	3
RILONACEPT	4	1
GOFLIKICEPT	3	1
DAPANSUTRILE	2	1