General Information of Disease (ID: DISCIXF0)

Disease Name Myositis disease
Synonyms inflammatory disorder of muscle (disorder); muscle tissue inflammation; inflammatory disorder of muscle; inflammation of muscle tissue
Definition An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.
Disease Hierarchy
DIS184KT: Skin inflammation
DISWD40R: Disease
DISOWG27: Myopathy
DISCIXF0: Myositis disease
Disease Identifiers
MONDO ID
MONDO_0021167
MESH ID
D009220
UMLS CUI
C0027121
OMIM ID
160750
MedGen ID
44564
HPO ID
HP:0100614
SNOMED CT ID
26889001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 18 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DCPS TTLSW9V moderate Biomarker [1]
CA14 TTEYTKG Strong Genetic Variation [2]
CLEC4C TT7YT06 Strong Biomarker [3]
DMD TTWLFXU Strong Genetic Variation [4]
FGF21 TTQ916P Strong Biomarker [5]
FOXP3 TT1X3QF Strong Altered Expression [6]
GALNS TTT9YPO Strong Biomarker [7]
GNE TT4DP5S Strong Genetic Variation [8]
HLA-DQA1 TTU2I3J Strong Biomarker [9]
HMGCR TTPADOQ Strong Biomarker [10]
IFNL1 TTM624L Strong Altered Expression [11]
IL12RB2 TT4SWR8 Strong Genetic Variation [12]
RGS6 TTJ96M8 Strong Biomarker [13]
TNFRSF1A TTG043C Strong Genetic Variation [14]
TRIM24 TT9Q7AE Strong Genetic Variation [15]
TYK2 TTBYWP2 Strong Genetic Variation [12]
IL1RN TT6GSR3 Definitive Biomarker [16]
SPP1 TT8ME6I Definitive Biomarker [17]
------------------------------------------------------------------------------------
⏷ Show the Full List of 18 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC11 DTWN7FC Strong Biomarker [18]
------------------------------------------------------------------------------------
This Disease Is Related to 64 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP6V1G2 OTM1DSKL Limited Genetic Variation [19]
DDX39B OTEVCFVU Limited Genetic Variation [19]
HCP5 OTV0YRI8 Limited Genetic Variation [19]
MICB OTS2DVDW Limited Genetic Variation [19]
IFIH1 OTZA2AHA moderate Biomarker [20]
SLURP1 OT89YD2E moderate Biomarker [1]
AARS1 OTW8D813 Strong Biomarker [21]
AARS2 OTOB0KSG Strong Biomarker [21]
ACTN3 OT9DZ7JQ Strong Genetic Variation [22]
ANKRD1 OTHJ7JV9 Strong Genetic Variation [23]
APBB1 OTZPVSSC Strong Biomarker [24]
ARSF OTC0L12N Strong Altered Expression [25]
ATG5 OT4T5SMS Strong Genetic Variation [12]
BICD2 OTVJ03NZ Strong Biomarker [26]
CASQ1 OTAY8WOO Strong Biomarker [27]
CD177 OTS79FNF Strong Biomarker [28]
CETN1 OTGQ8JOZ Strong Biomarker [29]
CKLF OTHLPHA0 Strong Altered Expression [30]
CNN3 OTJTAXAP Strong Biomarker [31]
COQ2 OTDAKEY4 Strong Biomarker [32]
CTNNA3 OT9Z0P1E Strong Biomarker [33]
DGKQ OT8OEPYT Strong Genetic Variation [12]
DNASE1L3 OTEUIMC2 Strong Genetic Variation [12]
EMD OTR8ZANE Strong Biomarker [34]
FBXO32 OTUE978R Strong Biomarker [35]
FKRP OTMUZ7GH Strong Genetic Variation [36]
GARS1 OT5B6R9Y Strong Altered Expression [37]
HARS1 OTHOEOTS Strong Biomarker [38]
HARS2 OTC8X3H9 Strong Biomarker [38]
HFM1 OTHV3EFE Strong Biomarker [39]
HGS OTCYYCAC Strong Biomarker [40]
IL1RAPL2 OTP7IOJO Strong Altered Expression [41]
IRF5 OT8SIIAP Strong Genetic Variation [12]
KNTC1 OTI2OOFN Strong Biomarker [42]
LAMA2 OTFROQWE Strong Genetic Variation [43]
MORC3 OT81NKVT Strong Biomarker [1]
MYH1 OT8YBDOT Strong Genetic Variation [44]
NCF2 OTAUW7L2 Strong Genetic Variation [12]
NEB OT7P9IR3 Strong Biomarker [45]
NFAT5 OTKIE59S Strong Altered Expression [46]
NT5C1A OTS7UF36 Strong Biomarker [47]
PAGR1 OTXR5PQ8 Strong Biomarker [7]
PRG2 OT0BCPQG Strong Biomarker [48]
PRH1 OTQZ6HX0 Strong Biomarker [49]
PRR12 OTY2ILFT Strong Genetic Variation [12]
PSMD4 OTH1VZTM Strong Altered Expression [25]
PTPN22 OTDCNTC3 Strong Genetic Variation [12]
PUF60 OTG90DYF Strong Biomarker [50]
RBBP8 OTRHJ3GI Strong Genetic Variation [51]
RO60 OTLGM5A8 Strong Biomarker [52]
SAE1 OT18HFX5 Strong Genetic Variation [51]
SDF4 OTQ7WFYW Strong Biomarker [29]
SMG7 OTZDB0JX Strong Genetic Variation [12]
SNRNP70 OTP52YZ3 Strong Biomarker [53]
SRSF5 OTC5WP98 Strong Biomarker [40]
STAT4 OTAK3VFR Strong Genetic Variation [12]
TARS1 OT0PWST5 Strong Biomarker [54]
TIA1 OTGPN3P8 Strong Biomarker [55]
TNIP1 OTRAOTEW Strong Genetic Variation [12]
TNPO3 OTOT3HH0 Strong Genetic Variation [12]
TRIM21 OTA4UJCF Strong Biomarker [56]
TRIM33 OT0KS4J7 Strong Biomarker [57]
TRIM63 OTUSWA74 Strong Biomarker [35]
TTN OT0LZ058 Strong Genetic Variation [58]
------------------------------------------------------------------------------------
⏷ Show the Full List of 64 DOT(s)

References

1 Current understanding and recent advances in myositis-specific and -associated autoantibodies detected in patients with dermatomyositis.Expert Rev Clin Immunol. 2020 Jan;16(1):79-89. doi: 10.1080/1744666X.2019.1699059. Epub 2019 Dec 8.
2 Interferon-gamma and interleukin-4 gene polymorphisms in Caucasian idiopathic inflammatory myopathy patients in UK.Ann Rheum Dis. 2007 Jul;66(7):970-3. doi: 10.1136/ard.2006.068858. Epub 2007 Apr 3.
3 The host defense peptide LL-37 a possible inducer of the type I interferon system in patients with polymyositis and dermatomyositis.J Autoimmun. 2017 Mar;78:46-56. doi: 10.1016/j.jaut.2016.12.003. Epub 2016 Dec 22.
4 Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy.J Bone Miner Res. 2019 Aug;34(8):1473-1486. doi: 10.1002/jbmr.3718. Epub 2019 Jun 12.
5 Deficiency of fibroblast growth factor 21 aggravates obesity-induced atrophic responses in skeletal muscle.J Inflamm (Lond). 2019 Jul 4;16:17. doi: 10.1186/s12950-019-0221-3. eCollection 2019.
6 FOXP3+ T regulatory cells in idiopathic inflammatory myopathies.J Neuroimmunol. 2010 Aug 25;225(1-2):137-42. doi: 10.1016/j.jneuroim.2010.03.013.
7 Serine/threonine protein kinase Stk is required for virulence, stress response, and penicillin tolerance in Streptococcus pyogenes.Infect Immun. 2011 Oct;79(10):4201-9. doi: 10.1128/IAI.05360-11. Epub 2011 Jul 25.
8 A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.Neuromuscul Disord. 2003 Dec;13(10):830-4. doi: 10.1016/s0960-8966(03)00140-8.
9 Clinical and human leucocyte antigen class II haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK Caucasian adult-onset myositis.Ann Rheum Dis. 2009 Oct;68(10):1621-5. doi: 10.1136/ard.2008.097162. Epub 2008 Oct 17.
10 Coexistence of anti-HMGCR and anti-MDA5 identified by an unlabeled immunoprecipitation assay in a chinese patient cohort with myositis.Medicine (Baltimore). 2018 Nov;97(47):e13236. doi: 10.1097/MD.0000000000013236.
11 Interferons and systemic sclerosis: correlation between interferon gamma and interferon-lambda 1 (IL-29).Autoimmunity. 2015;48(7):429-33. doi: 10.3109/08916934.2015.1054028. Epub 2015 Jun 9.
12 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.Ann Rheum Dis. 2019 Mar;78(3):311-319. doi: 10.1136/annrheumdis-2018-214127. Epub 2018 Dec 20.
13 The ILD-GAP risk prediction model performs poorly in myositis-associated interstitial lung disease.Respir Med. 2019 Apr;150:63-65. doi: 10.1016/j.rmed.2019.02.015. Epub 2019 Feb 21.
14 A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.Arthritis Rheum. 2000 Jul;43(7):1535-42. doi: 10.1002/1529-0131(200007)43:7<1535::AID-ANR18>3.0.CO;2-C.
15 Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis.Rheumatology (Oxford). 2018 Feb 1;57(2):388-396. doi: 10.1093/rheumatology/kex413.
16 Polymorphisms in the IL-1 receptor antagonist gene VNTR are possible risk factors for juvenile idiopathic inflammatory myopathies.Clin Exp Immunol. 2000 Jul;121(1):47-52. doi: 10.1046/j.1365-2249.2000.01266.x.
17 Normal inflammation and regeneration of muscle following injury require osteopontin from both muscle and non-muscle cells.Skelet Muscle. 2019 Feb 26;9(1):6. doi: 10.1186/s13395-019-0190-5.
18 Myeloid related protein induces muscle derived inflammatory mediators in juvenile dermatomyositis.Arthritis Res Ther. 2013 Sep 23;15(5):R131. doi: 10.1186/ar4311.
19 Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.Genes Immun. 2015 Oct;16(7):470-80. doi: 10.1038/gene.2015.28. Epub 2015 Aug 20.
20 Autoantibodies in idiopathic inflammatory myopathies: Clinical associations and laboratory evaluation by mono- and multispecific immunoassays.Autoimmun Rev. 2019 Mar;18(3):293-305. doi: 10.1016/j.autrev.2018.10.004. Epub 2019 Jan 11.
21 Pulmonary Pathologic Manifestations of Anti-Alanyl-tRNA Synthetase (Anti-PL-12)-Related Inflammatory Myopathy.Arch Pathol Lab Med. 2018 Feb;142(2):191-197. doi: 10.5858/arpa.2017-0010-OA. Epub 2017 Oct 2.
22 The ACTN3 R577X polymorphism is associated with inflammatory myopathies in a Mexican population.Scand J Rheumatol. 2012 Oct;41(5):396-400. doi: 10.3109/03009742.2012.669495. Epub 2012 May 29.
23 Reduction in inflammatory gene expression in skeletal muscle from Roux-en-Y gastric bypass patients randomized to omentectomy.PLoS One. 2011;6(12):e28577. doi: 10.1371/journal.pone.0028577. Epub 2011 Dec 16.
24 Proposed pathogenetic cascade of inclusion-body myositis: importance of amyloid-beta, misfolded proteins, predisposing genes, and aging.Curr Opin Rheumatol. 2003 Nov;15(6):737-44. doi: 10.1097/00002281-200311000-00009.
25 Alternative splicing factor ASF/SF2 is down regulated in inflamed muscle.J Clin Pathol. 2006 Aug;59(8):855-61. doi: 10.1136/jcp.2005.032961. Epub 2006 Mar 30.
26 Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype.Autoimmun Rev. 2018 Mar;17(3):267-275. doi: 10.1016/j.autrev.2018.01.006. Epub 2018 Jan 31.
27 Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases?.Endokrynol Pol. 2010 Mar-Apr;61(2):222-7.
28 Detection of piscine orthoreoviruses (PRV-1 and PRV-3) in Atlantic salmon and rainbow trout farmed in Germany.Transbound Emerg Dis. 2019 Jan;66(1):14-21. doi: 10.1111/tbed.13018. Epub 2018 Nov 23.
29 A 63 kDa skeletal muscle protein associated with eye muscle inflammation in Graves' disease is identified as the calcium binding protein calsequestrin.Autoimmunity. 1999;29(1):1-9. doi: 10.3109/08916939908995967.
30 Chemokine-like factor expression in the idiopathic inflammatory myopathies.Acta Neurol Scand. 2008 Aug;118(2):106-14. doi: 10.1111/j.1600-0404.2007.00990.x. Epub 2008 Feb 19.
31 Brief Report: Anti-Calponin 3 Autoantibodies: A Newly Identified Specificity in Patients With Sjgren's Syndrome.Arthritis Rheumatol. 2018 Oct;70(10):1610-1616. doi: 10.1002/art.40550. Epub 2018 Sep 3.
32 Iatrogenic myopathies.Curr Opin Neurol. 2010 Oct;23(5):445-9. doi: 10.1097/WCO.0b013e32833c2054.
33 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.Eur J Hum Genet. 2019 Mar;27(3):442-454. doi: 10.1038/s41431-018-0300-6. Epub 2018 Nov 12.
34 Nuclear membrane proteins are present within rimmed vacuoles in inclusion-body myositis.Muscle Nerve. 2006 Oct;34(4):406-16. doi: 10.1002/mus.20584.
35 l-arginine modulates inflammation and muscle regulatory genes after a single session of resistance exercise in rats.Scand J Med Sci Sports. 2018 Feb;28(2):425-435. doi: 10.1111/sms.12935. Epub 2017 Aug 4.
36 Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.J Neurol Sci. 2006 Apr 15;243(1-2):47-51. doi: 10.1016/j.jns.2005.11.024. Epub 2006 Jan 4.
37 Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis.J Biol Chem. 1994 Nov 18;269(46):28790-7.
38 Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.J Biol Chem. 2014 Jul 11;289(28):19269-75. doi: 10.1074/jbc.C114.571026. Epub 2014 Jun 4.
39 Hyperacute muscle weakness in an unusual coexistence of antisignal recognition particle and anti-Mi-2 antibodies.BMJ Case Rep. 2017 Jul 18;2017:bcr2017219221. doi: 10.1136/bcr-2017-219221.
40 Myositis induced by naked DNA immunization with the gene for histidyl-tRNA synthetase.Hum Gene Ther. 1997 Aug 10;8(12):1469-80. doi: 10.1089/hum.1997.8.12-1469.
41 Immunolocalization of interleukin-1 receptors in the sarcolemma and nuclei of skeletal muscle in patients with idiopathic inflammatory myopathies.Arthritis Rheum. 2007 Feb;56(2):674-87. doi: 10.1002/art.22388.
42 Risk factors for extraophthalmic involvement and treatment outcomes in patients with IgG4-related ophthalmic disease.Br J Ophthalmol. 2018 Jun;102(6):736-741. doi: 10.1136/bjophthalmol-2017-310584. Epub 2017 Sep 28.
43 Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.Ann Neurol. 2000 Jun;47(6):811-6.
44 A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.Skelet Muscle. 2018 Mar 6;8(1):7. doi: 10.1186/s13395-018-0155-0.
45 Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2.Genomics. 1993 Dec;18(3):559-61. doi: 10.1016/s0888-7543(05)80356-8.
46 Localization and Expression of Nuclear Factor of Activated T-Cells 5 in Myoblasts Exposed to Pro-inflammatory Cytokines or Hyperosmolar Stress and in Biopsies from Myositis Patients.Front Physiol. 2018 Feb 21;9:126. doi: 10.3389/fphys.2018.00126. eCollection 2018.
47 Anti-NT5C1A autoantibodies are associated with more severe disease in patients with juvenile myositis.Ann Rheum Dis. 2018 May;77(5):714-719. doi: 10.1136/annrheumdis-2017-212436. Epub 2018 Jan 23.
48 Eosinophilic major basic protein and interleukin-5 in eosinophilic myositis.Eur J Neurol. 2003 Jan;10(1):35-8. doi: 10.1046/j.1468-1331.2003.00481.x.
49 Autoantibodies in canine masticatory muscle myositis recognize a novel myosin binding protein-C family member.J Immunol. 2007 Oct 1;179(7):4939-44. doi: 10.4049/jimmunol.179.7.4939.
50 The prevalence and clinical significance of anti-PUF60 antibodies in patients with idiopathic inflammatory myopathy.Clin Rheumatol. 2018 Jun;37(6):1573-1580. doi: 10.1007/s10067-018-4031-4. Epub 2018 Mar 15.
51 Antibodies to small ubiquitin-like modifier activating enzyme are associated with a diagnosis of dermatomyositis: results from an unselected cohort.Immunol Res. 2018 Jun;66(3):431-436. doi: 10.1007/s12026-018-9006-7.
52 Major histocompatibility complex genes in systemic lupus erythematosus, Sjgren's syndrome, and polymyositis.Am J Med. 1988 Dec 23;85(6A):38-41. doi: 10.1016/0002-9343(88)90381-6.
53 Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells.Front Immunol. 2019 Apr 24;10:881. doi: 10.3389/fimmu.2019.00881. eCollection 2019.
54 Secreted Threonyl-tRNA synthetase stimulates endothelial cell migration and angiogenesis.Sci Rep. 2013;3:1317. doi: 10.1038/srep01317.
55 Mechanisms of lysis by activated cytotoxic cells expressing perforin and granzyme-B genes and the protein TIA-1 in muscle biopsies of myositis.J Rheumatol. 1996 Jul;23(7):1135-42.
56 Anti-Ro52 autoantibodies are associated with interstitial lung disease and more severe disease in patients with juvenile myositis.Ann Rheum Dis. 2019 Jul;78(7):988-995. doi: 10.1136/annrheumdis-2018-215004. Epub 2019 Apr 24.
57 Anti-transcriptional intermediary factor 1 gamma antibodies in cancer-associated myositis: a longitudinal study.Clin Exp Rheumatol. 2020 Jan-Feb;38(1):67-73. Epub 2019 Jul 30.
58 Severe thermoregulatory deficiencies in mice with a deletion in the titin gene TTN.J Exp Biol. 2019 Apr 30;222(Pt 9):jeb198564. doi: 10.1242/jeb.198564.