Details of Disease

General Information of Disease (ID: DISQRKDX)

Disease Name	Vasculitis
Synonyms	angiitis; systemic vasculitis
Disease Class	4A44: Vasculitis
Definition	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.
Disease Hierarchy	DIS184KT: Skin inflammation DISWD40R: Disease DISVS67S: Vascular disease DISQRKDX: Vasculitis
ICD Code	ICD-11 ICD-11: 4A44
Disease Identifiers	MONDO ID MONDO_0018882 MESH ID D014657 UMLS CUI C0042384 MedGen ID 12054 HPO ID HP:0002633 Orphanet ID 52759 SNOMED CT ID 31996006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Canakinumab	DM8HLO5	Approved	Antibody	[1]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
NexVas VI	DMMJ5C7	Investigative	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 30 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFI	TT6ATLX	Limited	Biomarker	[3]
CTLA4	TTI2S1D	Limited	Biomarker	[4]
ELK3	TT5OJMV	Limited	Biomarker	[5]
EPHB1	TT8MDAC	Limited	Biomarker	[5]
LAMP2	TTULDG7	Limited	Biomarker	[6]
MYD88	TTB6Q2O	Limited	Biomarker	[7]
NLRP3	TT4EN8X	Limited	Biomarker	[8]
SLC6A2	TTAWNKZ	Limited	Biomarker	[5]
FCGR2A	TTXT21W	moderate	Biomarker	[9]
ACR	TTAHE2N	Strong	Genetic Variation	[10]
APOA2	TTGQA9W	Strong	Biomarker	[11]
BLK	TTNDSC3	Strong	Altered Expression	[9]
BPI	TTXCSDR	Strong	Biomarker	[12]
CBL	TT7QT13	Strong	Biomarker	[13]
CD22	TTM6QSK	Strong	Biomarker	[14]
CD28	TTQ13FT	Strong	Biomarker	[15]
CD83	TTT9MRQ	Strong	Biomarker	[16]
CLEC6A	TTQ02HK	Strong	Biomarker	[17]
CSK	TTX6F0Q	Strong	Genetic Variation	[18]
HLA-B	TTGS10J	Strong	Biomarker	[19]
IL12B	TTGW72V	Strong	Biomarker	[9]
IL18	TTRICUF	Strong	Biomarker	[20]
ITGB2	TTIJWR7	Strong	Biomarker	[21]
KIR2DS2	TTV3CFI	Strong	Biomarker	[22]
MS4A1	TTUE541	Strong	Biomarker	[23]
NFKB1	TTUIZKC	Strong	Genetic Variation	[24]
RXRB	TTKLV96	Strong	Genetic Variation	[25]
S100A12	TTQ4ESF	Strong	Biomarker	[26]
SLC15A4	TTG2XRE	Strong	Genetic Variation	[27]
TNFRSF13C	TT7NJSE	Strong	Altered Expression	[28]
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⏷ Show the Full List of 30 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC11	DTWN7FC	Strong	Altered Expression	[29]
SLC26A5	DTPGHJ7	Strong	Genetic Variation	[30]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
P4HA2	DE5EGK0	Strong	Biomarker	[31]
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This Disease Is Related to 39 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CMAS	OTFQJG3C	Limited	Biomarker	[32]
GYPA	OTABU4YV	Limited	Biomarker	[33]
HLA-DPB1	OTW8JHU2	Limited	Biomarker	[34]
MUC13	OTWKS9MF	Limited	Biomarker	[35]
SH2D1A	OTLU49I5	Limited	Genetic Variation	[36]
FCN1	OTK6ZHXH	moderate	Altered Expression	[37]
ADA2	OTGCV24S	Strong	Biomarker	[38]
BTG3	OT9ANHVT	Strong	Biomarker	[39]
C1QTNF1	OT7I7KHC	Strong	Altered Expression	[40]
CAPS	OTC9GZ2M	Strong	Biomarker	[41]
CCL26	OT2B7HR9	Strong	Altered Expression	[42]
CCL3L1	OTQXCYB1	Strong	Genetic Variation	[43]
CD177	OTS79FNF	Strong	Biomarker	[44]
CD1E	OT4F3AKI	Strong	Genetic Variation	[45]
CD79A	OTOJC8DV	Strong	Biomarker	[46]
CYCS	OTBFALJD	Strong	Biomarker	[47]
DEFB104A	OTLQZR6K	Strong	Biomarker	[48]
FBLIM1	OTFHXMON	Strong	Altered Expression	[40]
GCA	OTAJ7ZHG	Strong	Biomarker	[49]
GEMIN2	OT4L6TLL	Strong	Biomarker	[50]
HLA-DRB4	OTNXIHQU	Strong	Biomarker	[51]
IFIT3	OTPGHZB9	Strong	Biomarker	[52]
IL26	OT2WYCW4	Strong	Altered Expression	[53]
MEFV	OTRJ6S6K	Strong	Biomarker	[54]
MOCOS	OT0TL3Q5	Strong	Biomarker	[55]
PALD1	OTLGUM8H	Strong	Altered Expression	[56]
PALLD	OTZ2MUJZ	Strong	Altered Expression	[56]
PNN	OT0HXICH	Strong	Biomarker	[57]
PTX3	OTPXHRKU	Strong	Altered Expression	[58]
PXDN	OTFGGM9R	Strong	Biomarker	[59]
RASGRP3	OTEMEV3P	Strong	Genetic Variation	[27]
RBM45	OTWTHD77	Strong	Biomarker	[60]
RPL31	OTV9E1OE	Strong	Biomarker	[34]
RPL9	OTKE01O8	Strong	Biomarker	[34]
RPS3A	OTUEP7CL	Strong	Biomarker	[34]
SCAF11	OTX59D0X	Strong	Biomarker	[50]
SCP2	OTPAFCPQ	Strong	Biomarker	[61]
SMUG1	OT2YIOCQ	Strong	Biomarker	[62]
TADA2A	OTXUMEL9	Strong	Biomarker	[63]
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⏷ Show the Full List of 39 DOT(s)

References

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25	Retinoid X receptor beta polymorphisms do not explain functional differences in vitamins D and A response in Antineutrophil cytoplasmic antibody associated vasculitis patients.Autoimmunity. 2009 Aug;42(5):467-74. doi: 10.1080/08916930902960347.
26	S100A12 Serum Levels and PMN Counts Are Elevated in Childhood Systemic Vasculitides Especially Involving Proteinase 3 Specific Anti-neutrophil Cytoplasmic Antibodies.Front Pediatr. 2018 Nov 23;6:341. doi: 10.3389/fped.2018.00341. eCollection 2018.
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28	Serum BAFF levels and skin mRNA expression in patients with Behet's disease.Clin Exp Rheumatol. 2008 Jul-Aug;26(4 Suppl 50):S64-71.
29	MRP8/MRP14 impairs endothelial integrity and induces a caspase-dependent and -independent cell death program.Blood. 2007 Mar 15;109(6):2453-60. doi: 10.1182/blood-2006-08-040444. Epub 2006 Nov 9.
30	Characterization of scrotal involvement in children and adolescents with IgA vasculitis.Adv Rheumatol. 2018 Nov 3;58(1):38. doi: 10.1186/s42358-018-0039-3.
31	A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.Am J Hum Genet. 2017 Jan 5;100(1):64-74. doi: 10.1016/j.ajhg.2016.11.013. Epub 2016 Dec 29.
32	The leukotriene receptor antagonist Montelukast can induce adverse skin reactions in asthmatic patients.Pulm Pharmacol Ther. 2020 Feb;60:101875. doi: 10.1016/j.pupt.2019.101875. Epub 2019 Dec 11.
33	Severe localised granulomatosis with polyangiitis (Wegener's granulomatosis) manifesting with extensive cranial nerve palsies and cranial diabetes insipidus: a case report and literature review.BMC Neurol. 2018 May 1;18(1):59. doi: 10.1186/s12883-018-1058-8.
34	Immune- and ribosome-related genes were associated with systemic vasculitis.Scand J Immunol. 2015 Feb;81(2):96-101. doi: 10.1111/sji.12252.
35	Exploring the potential of mucin 13 (MUC13) as a biomarker for carcinomas and other diseases.Clin Chem Lab Med. 2018 Oct 25;56(11):1945-1953. doi: 10.1515/cclm-2018-0139.
36	Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.Pediatr Infect Dis J. 2019 Feb;38(2):e29-e31. doi: 10.1097/INF.0000000000002154.
37	Ficolin-1 is a promising therapeutic target for autoimmune diseases.Int Immunol. 2019 Feb 6;31(1):23-32. doi: 10.1093/intimm/dxy056.
38	A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.Curr Opin Rheumatol. 2020 Jan;32(1):3-14. doi: 10.1097/BOR.0000000000000669.
39	Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study.Histol Histopathol. 2019 Sep;34(9):1073-188. doi: 10.14670/HH-18-110. Epub 2019 Apr 3.
40	Serum levels of C1q/tumor necrosis factor-related protein-1 in children with Kawasaki disease.Pediatr Res. 2018 May;83(5):999-1003. doi: 10.1038/pr.2018.16. Epub 2018 May 9.
41	Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.Rheumatol Int. 2018 Jan;38(1):129-136. doi: 10.1007/s00296-017-3740-3. Epub 2017 May 17.
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43	Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease.J Infect Dis. 2005 Jul 15;192(2):344-9. doi: 10.1086/430953. Epub 2005 Jun 8.
44	Lessons from a double-transgenic neutrophil approach to induce antiproteinase 3 antibody-mediated vasculitis in mice.J Leukoc Biol. 2016 Dec;100(6):1443-1452. doi: 10.1189/jlb.5A0116-037R. Epub 2016 Jun 30.
45	Polymorphisms of CD1 genes in chronic dysimmune neuropathies.J Neuroimmunol. 2007 May;186(1-2):161-3. doi: 10.1016/j.jneuroim.2007.03.001. Epub 2007 Apr 10.
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48	Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis.Rheumatology (Oxford). 2012 Jun;51(6):992-5. doi: 10.1093/rheumatology/ker419. Epub 2012 Feb 1.
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50	Identification and characterization of the carboxy-terminal region of Sip-1, a novel autoantigen in Behet's disease.Arthritis Res Ther. 2006;8(3):R71. doi: 10.1186/ar1940. Epub 2006 Apr 12.
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52	Potential biomarkers and latent pathways for vasculitis based on latent pathway identification analysis.Int J Rheum Dis. 2014 Jul;17(6):671-8. doi: 10.1111/1756-185X.12391. Epub 2014 May 27.
53	IL-26 Confers Proinflammatory Properties to Extracellular DNA.J Immunol. 2017 May 1;198(9):3650-3661. doi: 10.4049/jimmunol.1600594. Epub 2017 Mar 29.
54	Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.Rheumatology (Oxford). 2020 Jun 1;59(6):1372-1380. doi: 10.1093/rheumatology/kez410.
55	Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). Toxicol Appl Pharmacol. 2018 Aug 15;353:102-108. doi: 10.1016/j.taap.2018.06.015. Epub 2018 Jun 20.
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