MCID: ATN021
MIFTS: 33

Autoinflammatory Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Autoinflammatory Syndrome

MalaCards integrated aliases for Autoinflammatory Syndrome:

Name: Autoinflammatory Syndrome 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

UMLS via Orphanet 72 C3267073
Orphanet 58 ORPHA93665

Summaries for Autoinflammatory Syndrome

MalaCards based summary : Autoinflammatory Syndrome is related to familial cold autoinflammatory syndrome 2 and familial cold autoinflammatory syndrome. An important gene associated with Autoinflammatory Syndrome is NLRP3 (NLR Family Pyrin Domain Containing 3), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Measles. The drugs Rilonacept and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and t cells, and related phenotypes are cellular and hematopoietic system

Related Diseases for Autoinflammatory Syndrome

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 33.8 NLRP3 NLRP12
2 familial cold autoinflammatory syndrome 32.4 PLCG2 NLRP3 NLRP12 NLRC4
3 urticaria 30.4 PLCG2 NLRP3
4 periodic fever, familial, autosomal dominant 30.3 NLRP3 NLRP12
5 schnitzler syndrome 30.1 NLRP3 NLRP12
6 cold urticaria 30.1 PLCG2 NLRP3
7 muckle-wells syndrome 29.7 NLRP3 NLRP12 NLRC4
8 mevalonic aciduria 29.5 NLRP3 NLRP12 NLRC4
9 blau syndrome 29.5 NLRP3 NLRP12 NLRC4
10 physical urticaria 29.4 PLCG2 NLRP3
11 conjunctivitis 29.3 NLRP3 NLRP12 NLRC4
12 cinca syndrome 28.8 PLCG2 NLRP3 NLRP12 NLRC4
13 familial cold autoinflammatory syndrome 1 12.7
14 proteasome-associated autoinflammatory syndrome 1 12.6
15 autoinflammatory syndrome, familial, behcet-like 12.6
16 familial cold autoinflammatory syndrome 3 12.6
17 proteasome-associated autoinflammatory syndrome 2 12.6
18 familial cold autoinflammatory syndrome 4 12.5
19 proteasome-associated autoinflammatory syndrome 3 12.5
20 unclassified autoinflammatory syndrome 12.2
21 pyogenic autoinflammatory syndrome of childhood 12.1
22 granulomatous autoinflammatory syndrome of childhood 12.1
23 unclassified autoinflammatory syndrome of childhood 12.1
24 pyogenic autoinflammatory syndrome 12.1
25 granulomatous autoinflammatory syndrome 12.1
26 autoinflammatory syndrome of childhood 12.1
27 autoinflammatory syndrome with skin involvement 12.1
28 autoinflammatory syndrome with immune deficiency 12.1
29 autoinflammation, panniculitis, and dermatosis syndrome 11.8
30 polyglucosan body myopathy 1 with or without immunodeficiency 11.8
31 cryopyrin-associated periodic syndrome 11.6
32 autoinflammation with infantile enterocolitis 11.4
33 osteomyelitis, sterile multifocal, with periostitis and pustulosis 11.3
34 yao syndrome 11.1
35 singleton-merten syndrome 11.1
36 familial mediterranean fever 10.6
37 exanthem 10.5
38 pyoderma 10.5
39 pyoderma gangrenosum 10.5
40 neurofibromatosis, type ii 10.4
41 wells syndrome 10.4
42 amyloidosis 10.3
43 hyper-igd syndrome 10.3
44 hereditary periodic fever syndrome 10.3
45 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.3
46 juvenile rheumatoid arthritis 10.3
47 autoimmune disease 10.2
48 adult-onset still's disease 10.2
49 systemic onset juvenile idiopathic arthritis 10.2
50 amyloidosis aa 10.1

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



Diseases related to Autoinflammatory Syndrome

Symptoms & Phenotypes for Autoinflammatory Syndrome

MGI Mouse Phenotypes related to Autoinflammatory Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 NLRC4 NLRP12 NLRP3 PLCG2 TNFAIP3
2 hematopoietic system MP:0005397 9.55 NLRC4 NLRP12 NLRP3 PLCG2 TNFAIP3
3 immune system MP:0005387 9.35 NLRC4 NLRP12 NLRP3 PLCG2 TNFAIP3
4 skeleton MP:0005390 8.92 NLRC4 NLRP3 PLCG2 TNFAIP3

Drugs & Therapeutics for Autoinflammatory Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
2 Vaccines Phase 3
3 Antibodies, Monoclonal Phase 3
4 Immunoglobulins Phase 3
5 Immunologic Factors Phase 3
6 Antibodies Phase 3
7 Anti-Inflammatory Agents Phase 3
8 Antirheumatic Agents Phase 2
9 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 An Open-label Extension Study to Assess Efficacy, Safety and Tolerability of Canakinumab and the Efficacy and Safety of Childhood Vaccinations in Patients With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01576367 Phase 3
2 An Open-label, Efficacy and Safety Study of Canakinumab (Anti-interleukin-1β Monoclonal Antibody) Administered for 6 Months (24 Weeks) in Japanese Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease, Followed by an Extension Phase to Provide Canakinumab to Study Patients Until it is Approved and Marketed in Japan Completed NCT00991146 Phase 3 canakinumab
3 An Open-label, Long-term Safety and Efficacy Study of ACZ885 (Anti-interleukin-1β Monoclonal Antibody) Administered for at Least 6 Months in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
4 A One-year Open-label, Multicenter Trial to Assess Efficacy, Safety and Tolerability of Canakinumab (ACZ885) and the Efficacy and Safety of Childhood Vaccinations in Patients Aged 4 Years or Younger With Cryopyrin Associated Periodic Syndromes (CAPS) Completed NCT01302860 Phase 3 ACZ885
5 An Open Label Study to Assess the Safety, Tolerability and Efficacy of Canakinumab (ACZ885) in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
6 IL1T-AI-0505: A Multi-center, Double-Blind, Placebo-Controlled Study of the Safety, Tolerability, & Efficacy of Rilonacept in Subjects With Cryopyrin-Associated Periodic Syndromes (CAPS) Using Parallel Group & Randomized Withdrawal Designs Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
7 A Three-part,Multicenter Study,With a Randomized,Double-blind,Placebo Controlled,Withdrawal Design in Part II to Assess Efficacy,Safety,and Tolerability of ACZ885(Anti-interleukin-1beta Monoclonal Antibody)in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
8 A Multi-center, Double-blind, Placebo-controlled Phase II Study of the Efficacy and Safety of Canakinumab in Subjects With Schnitzler Syndrome Completed NCT01390350 Phase 2 Canakinumab;Placebo
9 A Phase II Multi Center Open Label Pilot Study To Assess a Potential Effect of an Anti-Il-1-Beta Antagonist in the Treatment of Pyoderma Gangrenosum Completed NCT01302795 Phase 2 Canakinumab
10 A Pilot Open-Label Study of Rilonacept (Arcalyst) in the Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
11 A Pilot Study of Anakinra in Behcet's Disease (BD) Completed NCT01441076 Phase 1, Phase 2 Anakinra
12 Continuation of a Pilot Open-Label Study of IL 1 Trap in Adult Subjects With Autoinflammatory Diseases: A Therapeutic Approach to Study Pathogenesis Completed NCT00094900 Phase 2 IL-1 Trap
13 Ilaris (Canakinumab) in the Schnitzler Syndrome. A Case Series. Completed NCT01245127 Phase 2 Ilaris
14 An Open Label, Single Arm Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of HL2351 in Patients With Cryopyrin Associated Periodic Syndromes Terminated NCT02853084 Phase 2 HL2351
15 A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD) Withdrawn NCT01211977 Phase 1, Phase 2 XOMA 052
16 An Open-label, Long-term, Prospective, Observational Study to Monitor the Safety and Effectiveness of Ilaris in CAPS Patients Completed NCT01213641
17 Admission of Adult-onset Still Disease Patients in the ICU: a French Retrospective Multicentric Study Completed NCT03276650
18 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
19 Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes Recruiting NCT00887939

Search NIH Clinical Center for Autoinflammatory Syndrome

Genetic Tests for Autoinflammatory Syndrome

Anatomical Context for Autoinflammatory Syndrome

MalaCards organs/tissues related to Autoinflammatory Syndrome:

40
Bone, Monocytes, T Cells, B Cells, Neutrophil, Kidney, Testes

Publications for Autoinflammatory Syndrome

Articles related to Autoinflammatory Syndrome:

(show top 50) (show all 296)
# Title Authors PMID Year
1
Aluminum and vaccines: Current state of knowledge. 61
31611133 2020
2
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. 61
31827281 2020
3
The evaluation of gene polymorphisms associated with autoinflammatory syndrome in patients with palindromic rheumatism complicated by intermittent hydrarthrosis. 61
31897954 2020
4
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. 61
31924766 2020
5
Psoriasis, arthritis, and pyoderma gangrenosum: an autoinflammatory syndrome or a coincidence? 61
31498876 2019
6
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2019
7
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2019
8
Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. 61
31161734 2019
9
Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome? 61
30877203 2019
10
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. 61
31589380 2019
11
Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state. 61
31353537 2019
12
New data in causes of autoinflammatory diseases. 61
30471422 2019
13
HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4. 61
31597739 2019
14
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019
15
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 61
31053777 2019
16
KIR3DL1/S1 Allotypes Contribute Differentially to the Development of Behçet Disease. 61
31405953 2019
17
Dysregulation of immunoproteasomes in autoinflammatory syndromes. 61
30169676 2019
18
TNF receptor signalling in autoinflammatory diseases. 61
30838383 2019
19
Targeting cytokines to treat autoinflammatory diseases. 61
30394352 2019
20
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. 61
31411330 2019
21
Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling. 61
29858171 2019
22
The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea. 61
31172726 2019
23
[Adult-onset Still's disease : Rare adult-onset autoinflammatory syndrome]. 61
30937478 2019
24
MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants. 61
30974290 2019
25
The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. 61
31777803 2019
26
Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. 61
30967326 2019
27
Total clavicle reconstruction with free peroneal graft for the surgical management of chronic nonbacterial osteomyelitis of the clavicle: a case report. 61
31084601 2019
28
A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 61
30568124 2019
29
Familial Mediterranean fever: breaking all the (genetic) rules. 61
30476289 2019
30
OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death. 61
30804083 2019
31
Induced pluripotent stem cells representing Nakajo-Nishimura syndrome. 61
31143302 2019
32
Cutaneous polyarteritis nodosa in a 7-year-old boy: difficulties in diagnosis. 61
31844345 2019
33
Metallosis: A New Form of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants Syndrome (ASIA)? 61
30931273 2019
34
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. 61
29451047 2019
35
The NLRP3 inflammasome: a new player in neurological diseases. 61
31892810 2019
36
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. 61
30858956 2019
37
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity. 61
29751004 2018
38
Autoimmune diseases after hepatitis B immunization in adults: Literature review and meta-analysis, with reference to 'autoimmune/autoinflammatory syndrome induced by adjuvants' (ASIA). 61
30100071 2018
39
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. 61
30183354 2018
40
Gain of function mutation and inflammasome driven diseases in human and mouse models. 61
29610014 2018
41
Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant. 61
29600537 2018
42
Mimickers of Urticaria: Urticarial Vasculitis and Autoinflammatory Diseases. 61
29871797 2018
43
An Update on Autoinflammatory Diseases: Relopathies. 61
29846841 2018
44
A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome. 61
28895430 2018
45
Perspective: Scientific and ethical concerns pertaining to animal models of autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA). 61
29526635 2018
46
Update on the epidemiology and disease outcome of Familial Mediterranean fever. 61
30527430 2018
47
[Cryopyrin-associated periodic syndromes]. 61
29111302 2018
48
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 61
29358286 2018
49
Chronic spontaneous urticaria or autoinflammatory disease? The therapeutic effect of omalizumab in a pediatric patient. 61
30426806 2018
50
IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies. 61
30671054 2018

Variations for Autoinflammatory Syndrome

Expression for Autoinflammatory Syndrome

Search GEO for disease gene expression data for Autoinflammatory Syndrome.

Pathways for Autoinflammatory Syndrome

GO Terms for Autoinflammatory Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.65 TNFAIP3 NLRP3 NLRC4
2 inflammatory response GO:0006954 9.61 TNFAIP3 NLRP3 NLRC4
3 cellular response to lipopolysaccharide GO:0071222 9.51 TNFAIP3 NLRP3
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.49 NLRP3 NLRC4
5 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.46 TNFAIP3 NLRP12
6 positive regulation of interleukin-1 beta secretion GO:0050718 9.4 NLRP3 NLRP12
7 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.37 NLRP3 NLRP12
8 negative regulation of inflammatory response GO:0050728 9.33 TNFAIP3 NLRP3 NLRP12
9 negative regulation of interleukin-1 beta secretion GO:0050713 9.32 TNFAIP3 NLRP3
10 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.26 NLRP12 NLRC4
11 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.13 NLRP3 NLRP12 NLRC4
12 negative regulation of NF-kappaB transcription factor activity GO:0032088 8.8 TNFAIP3 NLRP3 NLRP12

Sources for Autoinflammatory Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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