Details of Disease

General Information of Disease (ID: DIS5DHFP)

• Disease Name: Polymyositis
• Synonyms: polymyositis; PM
• Disease Class: 4A41: Idiopathic inflammatory myopathy
• Definition: A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.
• Disease Hierarchy:
  DIS9SJ80: Acquired idiopathic inflammatory myopathy
  DIS5DHFP: Polymyositis
• ICD Code: ICD-11: ICD-11: 4A41.1
• Disease Identifiers:
  MONDO ID: MONDO_0019127
  MESH ID: D017285
  UMLS CUI: C0085655
  MedGen ID: 39086
  Orphanet ID: 732
  SNOMED CT ID: 31384009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
KZR-616	DM6VD4L	Phase 2	Small molecule	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 18 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BLK	TTNDSC3	Limited	Genetic Variation	[2]
CCL21	TTLZK1U	Limited	Genetic Variation	[3]
CLEC4C	TT7YT06	Limited	Biomarker	[4]
CLCN1	TTUYAF3	Strong	Biomarker	[5]
CNTN2	TT2Z1WB	Strong	Biomarker	[6]
CPM	TTVOH2M	Strong	Biomarker	[7]
DCPS	TTLSW9V	Strong	Biomarker	[8]
DMD	TTWLFXU	Strong	Biomarker	[9]
DYSF	TTA7MXQ	Strong	Biomarker	[10]
IL15RA	TTGN89I	Strong	Altered Expression	[11]
IL1A	TTPM6HI	Strong	Biomarker	[12]
IL3RA	TTENHJ0	Strong	Altered Expression	[4]
KHDRBS1	TTAT6C7	Strong	Biomarker	[13]
MYH2	TTBIL13	Strong	Biomarker	[14]
PMS1	TTX1ISF	Strong	Biomarker	[15]
SCN4A	TT84DRB	Strong	Biomarker	[5]
TLR3	TTD24Y0	Strong	Biomarker	[16]
TLR7	TTRJ1K4	Strong	Altered Expression	[17]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	DE3FYEM	Strong	Biomarker	[18]

This Disease Is Related to 32 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FAM167A	OT9JF3JQ	Limited	Genetic Variation	[2]
HCP5	OTV0YRI8	Limited	Genetic Variation	[19]
MB	OTYWYL2D	Limited	Altered Expression	[20]
NT5C1A	OTS7UF36	Limited	Biomarker	[21]
PTPN22	OTDCNTC3	Limited	Genetic Variation	[19]
ACTN3	OT9DZ7JQ	Strong	Biomarker	[22]
ADAM19	OTH88TXU	Strong	Biomarker	[23]
CALD1	OTNJKJ6Q	Strong	Biomarker	[24]
CD207	OTI9RUDN	Strong	Altered Expression	[25]
CKLF	OTHLPHA0	Strong	Altered Expression	[26]
DCTN4	OTM7C943	Strong	Biomarker	[13]
DEFB103B	OT8RWY64	Strong	Altered Expression	[27]
DNASE1L3	OTEUIMC2	Strong	Altered Expression	[28]
EXOSC10	OTH8Z0AL	Strong	Biomarker	[29]
EXOSC9	OTFKB37F	Strong	Biomarker	[30]
GNLY	OTZJKA8C	Strong	Altered Expression	[31]
GTF2H1	OTCRXC6B	Strong	Biomarker	[13]
HARS1	OTHOEOTS	Strong	Biomarker	[32]
HARS2	OTC8X3H9	Strong	Biomarker	[32]
IFIH1	OTZA2AHA	Strong	Biomarker	[33]
IL1RAPL2	OTP7IOJO	Strong	Altered Expression	[12]
KARS1	OT0EU4SV	Strong	Biomarker	[34]
NECAP2	OTLH23GP	Strong	Biomarker	[7]
NFAT5	OTKIE59S	Strong	Biomarker	[35]
NUP62	OTMN63DH	Strong	Biomarker	[13]
PLAAT4	OTI66SAJ	Strong	Altered Expression	[36]
PUF60	OTG90DYF	Strong	Biomarker	[37]
RIT2	OTSNYG0D	Strong	Biomarker	[38]
SLURP1	OT89YD2E	Strong	Biomarker	[8]
SNRPN	OTQB1ID1	Strong	Biomarker	[39]
TIA1	OTGPN3P8	Strong	Biomarker	[40]
TRIM33	OT0KS4J7	Strong	Altered Expression	[41]

References

• [1] ClinicalTrials.gov (NCT04628936) An Open-label Extension to the Phase 2 Randomized, Double-blind, Placebo-controlled, Crossover Multicenter Study to Evaluate the Safety and Efficacy of KZR-616 in the Treatment of Patients With Active Polymyositis or Dermatomyositis. U.S.National Institutes of Health.
• [2] Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.Immunol Res. 2015 Jun;62(2):153-62. doi: 10.1007/s12026-015-8646-0.
• [3] A single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population.Clin Exp Rheumatol. 2015 Sep-Oct;33(5):639-46. Epub 2015 Aug 31.
• [4] Role of the chemokine receptors CXCR3, CXCR4 and CCR7 in the intramuscular recruitment of plasmacytoid dendritic cells in dermatomyositis.J Neuroimmunol. 2018 Jun 15;319:142-148. doi: 10.1016/j.jneuroim.2018.01.008. Epub 2018 Jan 9.
• [5] The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy.Neurosci Lett. 2000 Dec 8;295(3):93-6. doi: 10.1016/s0304-3940(00)01598-6.
• [6] A search for human T-cell leukemia virus type I in the lesions of patients with tropical spastic paraparesis and polymyositis.Ann Neurol. 1995 Sep;38(3):454-60. doi: 10.1002/ana.410380317.
• [7] Integrated comparison of the miRNAome and mRNAome in muscles of dermatomyositis and polymyositis reveals common and specific miRNA-mRNAs.Epigenomics. 2019 Jan;11(1):23-33. doi: 10.2217/epi-2018-0064. Epub 2018 Dec 7.
• [8] Distinct profiles of myositis-specific autoantibodies in Chinese and Japanese patients with polymyositis/dermatomyositis.Clin Rheumatol. 2015 Sep;34(9):1627-31. doi: 10.1007/s10067-015-2935-9. Epub 2015 Apr 24.
• [9] Value of muscle enzyme measurement in evaluating different neuromuscular diseases.Clin Chim Acta. 2012 Feb 18;413(3-4):520-4. doi: 10.1016/j.cca.2011.11.016. Epub 2011 Nov 25.
• [10] Dysferlin deficiency treated like refractory polymyositis.Clin Rheumatol. 2010 Jan;29(1):103-6. doi: 10.1007/s10067-009-1273-1.
• [11] IL-15 up-regulates the MMP-9 expression levels and induces inflammatory infiltration of macrophages in polymyositis through regulating the NF-kB pathway.Gene. 2016 Oct 10;591(1):137-147. doi: 10.1016/j.gene.2016.06.055. Epub 2016 Jun 29.
• [12] 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.
• [13] Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining.Med Clin (Barc). 2019 Dec 13;153(11):437-440. doi: 10.1016/j.medcli.2019.04.022. Epub 2019 Jun 26.
• [14] A three-way interplay of DR4, autoantibodies and synovitis in biopsy-proven idiopathic inflammatory myositis.Rheumatol Int. 2012 Mar;32(3):611-9. doi: 10.1007/s00296-010-1637-5. Epub 2010 Dec 2.
• [15] Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis.Int J Cancer. 2005 Oct 10;116(6):925-33. doi: 10.1002/ijc.21118.
• [16] Autophagy, inflammation and innate immunity in inflammatory myopathies.PLoS One. 2014 Nov 3;9(11):e111490. doi: 10.1371/journal.pone.0111490. eCollection 2014.
• [17] Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis.J Pathol. 2019 Oct;249(2):215-226. doi: 10.1002/path.5309. Epub 2019 Jul 18.
• [18] Rare causes of calcitriol-mediated hypercalcemia: a case report and literature review.J Clin Endocrinol Metab. 2010 Jul;95(7):3111-7. doi: 10.1210/jc.2009-2673. Epub 2010 Apr 28.
• [19] Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.Ann Rheum Dis. 2016 Aug;75(8):1558-66. doi: 10.1136/annrheumdis-2015-208119. Epub 2015 Sep 11.
• [20] Serum levels of B-cell activating factor of the TNF family (BAFF) correlate with anti-Jo-1 autoantibodies levels and disease activity in patients with anti-Jo-1positive polymyositis and dermatomyositis.Arthritis Res Ther. 2018 Jul 27;20(1):158. doi: 10.1186/s13075-018-1650-8.
• [21] Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjgren's Syndrome and Systemic Lupus Erythematosus.Front Immunol. 2018 Jun 5;9:1200. doi: 10.3389/fimmu.2018.01200. eCollection 2018.
• [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] The cell-specific expression of metalloproteinase-disintegrins (ADAMs) in inflammatory myopathies.Neurobiol Dis. 2007 Mar;25(3):665-74. doi: 10.1016/j.nbd.2006.11.008. Epub 2007 Jan 3.
• [24] Mimicry between the hepatitis B virus DNA polymerase and the antigenic targets of nuclear and smooth muscle antibodies in chronic hepatitis B virus infection.J Immunol. 1999 Feb 1;162(3):1802-10.
• [25] Fascin-expressing dendritic cells dominate in polymyositis and dermatomyositis.J Rheumatol. 2013 Feb;40(2):186-91. doi: 10.3899/jrheum.120590. Epub 2012 Nov 1.
• [26] 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.
• [27] Human -defensin-3 correlates with muscle fibre degeneration in idiopathic inflammatory myopathies.Innate Immun. 2014 Jan;20(1):49-60. doi: 10.1177/1753425913481820. Epub 2013 Apr 22.
• [28] Serum level of DNase1l3 in patients with dermatomyositis/polymyositis, systemic lupus erythematosus and rheumatoid arthritis, and its association with disease activity.Clin Exp Med. 2017 Nov;17(4):459-465. doi: 10.1007/s10238-016-0448-8. Epub 2016 Dec 30.
• [29] Novel aspects of autoantibodies to the PM/Scl complex: clinical, genetic and diagnostic insights.Autoimmun Rev. 2007 Aug;6(7):432-7. doi: 10.1016/j.autrev.2007.01.013. Epub 2007 Feb 20.
• [30] PM-Scl-75 is the main autoantigen in patients with the polymyositis/scleroderma overlap syndrome.Arthritis Rheum. 2004 Feb;50(2):565-9. doi: 10.1002/art.20056.
• [31] Expression of granulysin in polymyositis and inclusion-body myositis.J Neurol Neurosurg Psychiatry. 2006 Oct;77(10):1187-90. doi: 10.1136/jnnp.2005.081810.
• [32] 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.
• [33] Analysis of anti-melanoma differentiation-associated gene 5 antibody in Hong Kong Chinese patients with idiopathic inflammatory myopathies: diagnostic utility and clinical correlations.Int J Rheum Dis. 2018 May;21(5):1076-1081. doi: 10.1111/1756-185X.13268. Epub 2018 Jan 30.
• [34] Lysyl-Transfer RNA Synthetase Induces the Maturation of Dendritic Cells through MAPK and NF-B Pathways, Strongly Contributing to Enhanced Th1 Cell Responses.J Immunol. 2018 Nov 1;201(9):2832-2841. doi: 10.4049/jimmunol.1800386. Epub 2018 Oct 1.
• [35] 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.
• [36] RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.Arthritis Res Ther. 2017 Jul 24;19(1):174. doi: 10.1186/s13075-017-1383-0.
• [37] 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.
• [38] T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients.Arthritis Res Ther. 2018 Aug 29;20(1):188. doi: 10.1186/s13075-018-1688-7.
• [39] Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders.Clin Rev Allergy Immunol. 2012 Feb;42(1):16-25. doi: 10.1007/s12016-011-8286-7.
• [40] 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.
• [41] 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.