Details of Disease

General Information of Disease (ID: DISCMCGL)

Disease Name Autoinflammatory syndrome
Definition
A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.|Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS77ACK: Rheumatic disorder
DISCMCGL: Autoinflammatory syndrome
Disease Identifiers
MONDO ID
MONDO_0019751
UMLS CUI
C3890737
MedGen ID
855741
Orphanet ID
93665
SNOMED CT ID
4.21E+13

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MVK TT5DFHW Strong Genetic Variation [1]
TNFRSF1A TTG043C Strong Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
G6PC3 DEE1B8O Strong Genetic Variation [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEFV OTRJ6S6K Limited Biomarker [3]
IL36RN OT5CO95A Strong Genetic Variation [4]
NLRC4 OTAIA3NA Strong Genetic Variation [5]
NLRP12 OTGR132Z Strong Biomarker [6]
OTULIN OTEE02J4 Strong Genetic Variation [7]
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References

1 Behet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.Sci Rep. 2019 Feb 26;9(1):2777. doi: 10.1038/s41598-019-39113-5.
2 Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.Front Immunol. 2017 Nov 6;8:1485. doi: 10.3389/fimmu.2017.01485. eCollection 2017.
3 Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.Rheumatology (Oxford). 2020 Apr 1;59(4):754-761. doi: 10.1093/rheumatology/kez332.
4 Coinheritance of generalized pustular psoriasis and familial Behet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state.J Dermatol. 2019 Oct;46(10):907-910. doi: 10.1111/1346-8138.15034. Epub 2019 Jul 29.
5 A Disease-associated Mutant of NLRC4 Shows Enhanced Interaction with SUG1 Leading to Constitutive FADD-dependent Caspase-8 Activation and Cell Death.J Biol Chem. 2017 Jan 27;292(4):1218-1230. doi: 10.1074/jbc.M116.763979. Epub 2016 Dec 14.
6 Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.Mediterr J Hematol Infect Dis. 2019 Mar 1;11(1):e2019018. doi: 10.4084/MJHID.2019.018. eCollection 2019.
7 An Update on Autoinflammatory Diseases: Relopathies.Curr Rheumatol Rep. 2018 May 30;20(7):39. doi: 10.1007/s11926-018-0749-x.