MCID: ATN021
MIFTS: 32

Autoinflammatory Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Autoinflammatory Syndrome

MalaCards integrated aliases for Autoinflammatory Syndrome:

Name: Autoinflammatory Syndrome 58 29 6

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 proteasome-associated autoinflammatory syndrome 1. 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 Pathways and Shigellosis. The drugs Rilonacept and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include monocytes, and related phenotypes are hematopoietic system and immune 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 128)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 2 32.4 NLRP3 NLRP12
2 proteasome-associated autoinflammatory syndrome 1 31.9 PSMB8 NLRP3
3 familial cold autoinflammatory syndrome 31.4 PLCG2 NLRP3 NLRP12 NLRC4
4 muckle-wells syndrome 30.8 NLRP3 NLRP12 NLRC4
5 cinca syndrome 30.8 NLRP3 NLRP12 NLRC4
6 urticaria 30.3 PLCG2 NLRP3
7 schnitzler syndrome 30.1 NLRP3 NLRP12
8 cold urticaria 30.0 PLCG2 NLRP3
9 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 29.9 NLRP3 NLRP12
10 periodic fever, familial, autosomal dominant 29.8 NLRP3 NLRP12
11 blau syndrome 29.6 NLRP3 NLRC4
12 conjunctivitis 29.6 NLRP3 NLRP12 NLRC4
13 mevalonic aciduria 29.2 NLRP3 NLRP12 NLRC4
14 familial cold autoinflammatory syndrome 1 11.7
15 familial cold autoinflammatory syndrome 3 11.6
16 familial cold autoinflammatory syndrome 4 11.6
17 proteasome-associated autoinflammatory syndrome 3 11.6
18 autoinflammatory syndrome, familial, behcet-like 11.5
19 proteasome-associated autoinflammatory syndrome 2 11.5
20 autoinflammation, panniculitis, and dermatosis syndrome 11.4
21 polyglucosan body myopathy 1 with or without immunodeficiency 11.3
22 autoinflammation with infantile enterocolitis 11.3
23 proteasome-associated autoinflammatory syndrome 4 11.2
24 autoinflammation with episodic fever and lymphadenopathy 11.1
25 osteomyelitis, sterile multifocal, with periostitis and pustulosis 11.1
26 cryopyrin-associated periodic syndrome 11.0
27 proteasome-associated autoinflammatory syndrome 5 11.0
28 pyogenic autoinflammatory syndrome of childhood 11.0
29 granulomatous autoinflammatory syndrome of childhood 11.0
30 unclassified autoinflammatory syndrome of childhood 11.0
31 pyogenic autoinflammatory syndrome 11.0
32 granulomatous autoinflammatory syndrome 11.0
33 unclassified autoinflammatory syndrome 11.0
34 autoinflammatory syndrome of childhood 11.0
35 autoinflammatory syndrome with skin involvement 11.0
36 autoinflammatory syndrome with immune deficiency 11.0
37 yao syndrome 10.9
38 exanthem 10.4
39 pyoderma 10.3
40 pyoderma gangrenosum 10.3
41 familial mediterranean fever 10.2
42 acne 10.2
43 brucellosis 10.2
44 amyloidosis 10.2
45 wells syndrome 10.2
46 persian gulf syndrome 10.1
47 autoimmune disease 10.0
48 hyper-igd syndrome 10.0
49 hidradenitis 10.0
50 pustulosis of palm and sole 10.0

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 NLRC4 NLRP12 NLRP3 PLCG2 PSMB8
2 immune system MP:0005387 9.02 NLRC4 NLRP12 NLRP3 PLCG2 PSMB8

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 Immunoglobulins Phase 3
3 Antibodies Phase 3
4 Antibodies, Monoclonal Phase 3
5 Anti-Inflammatory Agents Phase 3
6 Givinostat hydrochloride Phase 2
7 Histone Deacetylase Inhibitors Phase 2
8 Kallikreins Phase 2
9 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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)
3 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
4 The Effects and Side Effects of ITS2357 in Autoinflammatory Syndromes Unknown status NCT00442182 Phase 2 ITF2357
5 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
6 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
7 Factor XII-associated Cold Autoinflammatory Syndrome (FACAS) Linked to Kallikrein-kinin Pathology: Proof of Concept Treatment With Lanadelumab (DX-2930) Recruiting NCT04278885 Phase 2 Lanadelumab
8 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Phase 2 Study of the Efficacy and Safety of RPH-104 in Adult Subjects With Schnitzler Syndrome Not yet recruiting NCT04213274 Phase 2 Placebo
9 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

Search NIH Clinical Center for Autoinflammatory Syndrome

Genetic Tests for Autoinflammatory Syndrome

Genetic tests related to Autoinflammatory Syndrome:

# Genetic test Affiliating Genes
1 Autoinflammatory Syndrome 29

Anatomical Context for Autoinflammatory Syndrome

MalaCards organs/tissues related to Autoinflammatory Syndrome:

40
Monocytes

Publications for Autoinflammatory Syndrome

Articles related to Autoinflammatory Syndrome:

(show top 50) (show all 335)
# Title Authors PMID Year
1
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians. 61
33530412 2021
2
Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? 61
33401496 2021
3
Inducible skin-associated lymphoid tissue (iSALT) in a patient with Schnitzler syndrome who manifested wheals on recurrent localized erythema. 61
33445206 2021
4
The NAIP/NLRC4 inflammasome in infection and pathology. 61
32499055 2020
5
Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients. 61
33161498 2020
6
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence. 61
32725138 2020
7
[An abnormal palmitoylation arising from a mutation of CDC42 results in a severe autoinflammatory syndrome]. 61
33151860 2020
8
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome. 61
32283203 2020
9
[ASIA syndrome associated with breast implants: Fortuitous link or association?] 61
32522615 2020
10
PAPA spectrum disorders. 61
32618443 2020
11
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. 61
32750333 2020
12
Molecular mechanisms activating the NAIP-NLRC4 inflammasome: Implications in infectious disease, autoinflammation, and cancer. 61
32729154 2020
13
Comparing children and adults with chronic nonbacterial osteomyelitis. 61
32744822 2020
14
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. 61
32743991 2020
15
Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review. 61
32737687 2020
16
Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate. 61
32641742 2020
17
Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A). 61
32721894 2020
18
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
19
A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene. 61
32513120 2020
20
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. 61
32380704 2020
21
OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer. 61
32231246 2020
22
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2020
23
Interplay of Cyclic GMP-AMP Synthase/Stimulator of IFN Genes and Toll-Like Receptor Nucleic Acid Sensing Pathways in Autoinflammation and Abnormal Bone Formation due to DNaseII-Deficiency. 61
32286184 2020
24
Misleading symptoms of hereditary angioedema type II mimicking familial mediterranean fever. 61
32898127 2020
25
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. 61
31411330 2020
26
The evaluation of gene polymorphisms associated with autoinflammatory syndrome in patients with palindromic rheumatism complicated by intermittent hydrarthrosis. 61
31897954 2020
27
Images of the month 1: Schnitzler syndrome: an acquired autoinflammatory syndrome. 61
32188668 2020
28
[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency]. 61
32135594 2020
29
PsAPASH: a rare and recent autoinflammatory syndrome associated with hidradenitis suppurativa. 61
32063421 2020
30
Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) after a silicone injection. 61
32234860 2020
31
Cryopyrin-associated periodic fever syndrome in children: A case-based review. 61
31858722 2020
32
Aluminum and vaccines: Current state of knowledge. 61
31611133 2020
33
Understanding Behçet's Disease in the Context of Innate Immunity Activation. 61
33193413 2020
34
Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: review and update. 61
32523634 2020
35
A Patient with Complex Gout with an Autoinflammatory Syndrome and a Sternoclavicular Joint Arthritis as Presenting Symptoms. 61
32082683 2020
36
Schnitzler Syndrome in a 27-Year-Old Man: Diagnostic and Therapeutic Dilemma in Adult Auto-Inflammatory Syndromes A Case Report and Literature Review. 61
33061540 2020
37
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. 61
31924766 2020
38
Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes. 61
32475906 2020
39
Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases. 61
32419407 2020
40
Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene. 61
33014937 2020
41
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. 61
32425927 2020
42
The off-label use of anakinra in pediatric systemic autoinflammatory diseases. 61
33149772 2020
43
Case Report: Adult Still's Disease in an Alemtuzumab-Treated Multiple Sclerosis Patient. 61
33013884 2020
44
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. 61
31827281 2020
45
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes. 61
33329557 2020
46
Psoriasis, arthritis, and pyoderma gangrenosum: an autoinflammatory syndrome or a coincidence? 61
31498876 2019
47
Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome? 61
30877203 2019
48
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. 61
31589380 2019
49
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
50
Recognising and understanding cryopyrin-associated periodic syndrome in adults. 61
31597069 2019

Variations for Autoinflammatory Syndrome

ClinVar genetic disease variations for Autoinflammatory Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV Likely benign 4697 rs5743289 16:50756774-50756774 16:50722863-50722863

Expression for Autoinflammatory Syndrome

Search GEO for disease gene expression data for Autoinflammatory Syndrome.

Pathways for Autoinflammatory Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 NLRP3 NLRP12 NLRC4
2 11.72 PLCG2 NLRP3 NLRC4
3
Show member pathways
11.64 PLCG2 NLRP3
4 11.5 NLRP3 NLRC4
5 11.39 NLRP3 NLRP12 NLRC4
6
Show member pathways
11.38 NLRP3 NLRC4
7 10.41 NLRP3 NLRP12 NLRC4

GO Terms for Autoinflammatory Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 PSMB8 NLRP3 NLRC4
2 T cell receptor signaling pathway GO:0050852 9.48 PSMB8 PLCG2
3 Fc-epsilon receptor signaling pathway GO:0038095 9.46 PSMB8 PLCG2
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.43 NLRP3 NLRC4
5 negative regulation of inflammatory response GO:0050728 9.37 NLRP3 NLRP12
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.32 PSMB8 PLCG2
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.26 NLRP12 NLRC4
8 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.16 NLRP3 NLRP12
9 negative regulation of NIK/NF-kappaB signaling GO:1901223 8.96 NLRP3 NLRP12
10 positive regulation of interleukin-1 beta production GO:0032731 8.8 NLRP3 NLRP12 NLRC4

Sources for Autoinflammatory Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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