Details of Disease

General Information of Disease (ID: DISU3CNU)

• Disease Name: Anca-associated vasculitis
• Synonyms: Midline granulomatosis; ANCA-associated vasculitis; Wg; Wegener's syndrome; Wegener's granulomatosis; pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis; GPA; Wegener granulomatosis; granulomatosis - Wegener's; granulomatosis with polyangiitis; necrotizing respiratory granulomatosis
• Disease Class: 4A44: Vasculitis
• Definition: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.
• Disease Hierarchy:
  DISAEGPH: Immune system disorder
  DISPZIQ3: Glomerulonephritis
  DISBEQIT: Anti-neutrophil cytoplasmic antibody-associated vasculitis
  DISU3CNU: Anca-associated vasculitis
• ICD Code: ICD-11: ICD-11: 4A44.A
• Disease Identifiers:
  MONDO ID: MONDO_0012105
  MESH ID: D014890
  UMLS CUI: C3495801
  OMIM ID: 608710
  MedGen ID: 811223
  Orphanet ID: 900
  SNOMED CT ID: 195353004

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Avacopan	DM5LQHB	Approved	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACR	TTAHE2N	Strong	Genetic Variation	[2]
CTLA4	TTI2S1D	Strong	SusceptibilityMutation	[3]
MPO	TTVCZPI	Strong	Biomarker	[4]
RXRB	TTKLV96	Strong	Genetic Variation	[5]
SERPINA1	TTA7UJC	Strong	Genetic Variation	[6]
SERPINA6	TTJL8VG	Strong	Genetic Variation	[7]
TNFRSF18	TTG6LA7	Strong	Altered Expression	[8]
TNFSF13	TTOI1RM	Strong	Altered Expression	[9]
TST	TT51OTS	Strong	Biomarker	[10]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	Strong	Altered Expression	[11]

This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BANF1	OTP7Z38L	Limited	Biomarker	[12]
FBL	OTRODIE5	Limited	Biomarker	[13]
GCA	OTAJ7ZHG	Limited	Genetic Variation	[14]
GYPA	OTABU4YV	Limited	Genetic Variation	[15]
HLA-DPB1	OTW8JHU2	Limited	Genetic Variation	[16]
TNXB	OTVBWAV5	Limited	Genetic Variation	[17]
ANP32B	OT3SQMLU	Strong	Altered Expression	[9]
CD226	OT4UG0KB	Strong	Genetic Variation	[18]
CYCS	OTBFALJD	Strong	Genetic Variation	[19]
DEFB104A	OTLQZR6K	Strong	Biomarker	[20]
DHX15	OT4F98TK	Strong	Biomarker	[21]
GBA3	OT86XWU2	Strong	Genetic Variation	[7]
HLA-DPA1	OT7OG7Y2	Strong	SusceptibilityMutation	[22]
KLRB1	OTQ2959Y	Strong	Biomarker	[23]
KRT3	OT5U1Y8L	Strong	Genetic Variation	[24]
MAMLD1	OT9EVMQY	Strong	Biomarker	[25]
PARP9	OT7K4494	Strong	Altered Expression	[11]
PNN	OT0HXICH	Strong	Genetic Variation	[26]
RING1	OTCWTAX0	Strong	Genetic Variation	[27]
SEMA6A	OTDQ7QAW	Strong	Genetic Variation	[28]

References

• [1] FDA Approved Drug Products from FDA Official Website. 2021. Application Number: 214487.
• [2] The utility of the ACR/EULAR 2017 provisional classification criteria for granulomatosis with polyangiitis in Korean patients with antineutrophil cytoplasmic antibody-associated vasculitis.Clin Exp Rheumatol. 2018 Mar-Apr;36 Suppl 111(2):85-87. Epub 2017 Nov 27.
• [3] Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.Arthritis Rheum. 2012 Oct;64(10):3463-71. doi: 10.1002/art.34496.
• [4] Clinical Effect of Alpha-1 Antitrypsin Deficiency in Antineutrophil Cytoplasmic Antibody-associated Vasculitis: Results from a French Retrospective Monocentric Cohort.J Rheumatol. 2019 Nov;46(11):1502-1508. doi: 10.3899/jrheum.180591. Epub 2019 Mar 1.
• [5] On the Wegener granulomatosis associated region on chromosome 6p21.3.BMC Med Genet. 2006 Mar 9;7:21. doi: 10.1186/1471-2350-7-21.
• [6] SERPINA1 Gene Variants in Granulomatosis with Polyangiitis.Adv Exp Med Biol. 2018;1070:9-18. doi: 10.1007/5584_2018_156.
• [7] A linkage disequilibrium between genes at the serine protease inhibitor gene cluster on chromosome 14q32.1 is associated with Wegener's granulomatosis.Clin Immunol. 2001 Feb;98(2):244-8. doi: 10.1006/clim.2000.4962.
• [8] CD4+CD25+ T-cell populations expressing CD134 and GITR are associated with disease activity in patients with Wegener's granulomatosis.Nephrol Dial Transplant. 2009 Jan;24(1):161-71. doi: 10.1093/ndt/gfn461. Epub 2008 Aug 22.
• [9] Plasma cells within granulomatous inflammation display signs pointing to autoreactivity and destruction in granulomatosis with polyangiitis.Arthritis Res Ther. 2014 Feb 20;16(1):R55. doi: 10.1186/ar4490.
• [10] The prevalence of the Staphylococcus aureus tst gene among community- and hospital-acquired strains and isolates from Wegener's Granulomatosis patients.FEMS Microbiol Lett. 2005 Apr 1;245(1):185-9. doi: 10.1016/j.femsle.2005.03.002.
• [11] Cytokine profiles in Wegener's granulomatosis: predominance of type 1 (Th1) in the granulomatous inflammation.Arthritis Rheum. 1999 Apr;42(4):742-50. doi: 10.1002/1529-0131(199904)42:4<742::AID-ANR18>3.0.CO;2-I.
• [12] Molecular targeted therapies for microscopic polyangiitis and granulomatosis with polyangiitis.Korean J Intern Med. 2019 May;34(3):492-503. doi: 10.3904/kjim.2018.366. Epub 2019 Jan 9.
• [13] Fibrosis-4 index at diagnosis is associated with all-cause mortality in patients with microscopic polyangiitis and granulomatosis with polyangiitis.BMC Gastroenterol. 2019 Jun 13;19(1):90. doi: 10.1186/s12876-019-1007-z.
• [14] Are the 1990 American College of Rheumatology vasculitis classification criteria still valid?.Rheumatology (Oxford). 2017 Jul 1;56(7):1154-1161. doi: 10.1093/rheumatology/kex075.
• [15] 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.
• [16] HLA-DPB1 variant rs3117242 is associated with anti-neutrophil cytoplasmic antibody-associated vasculitidesin a Han Chinese population.Int J Rheum Dis. 2017 Aug;20(8):1009-1015. doi: 10.1111/1756-185X.12561. Epub 2015 May 27.
• [17] Associations between genetic risk variants for kidney diseases and kidney disease etiology.Sci Rep. 2017 Oct 24;7(1):13944. doi: 10.1038/s41598-017-13356-6.
• [18] CD226 Gly307Ser association with multiple autoimmune diseases: a meta-analysis.Hum Immunol. 2013 Feb;74(2):249-55. doi: 10.1016/j.humimm.2012.10.009. Epub 2012 Oct 13.
• [19] Pituitary dysfunction in granulomatosis with polyangiitis.Clin Rheumatol. 2020 Feb;39(2):595-606. doi: 10.1007/s10067-019-04735-7. Epub 2019 Aug 24.
• [20] Molecular signatures of a disturbed nasal barrier function in the primary tissue of Wegener's granulomatosis.Mucosal Immunol. 2011 Sep;4(5):564-73. doi: 10.1038/mi.2011.9. Epub 2011 Mar 16.
• [21] HLA allele variation as a potential explanation for the geographical distribution of granulomatosis with polyangiitis.Rheumatology (Oxford). 2015 Feb;54(2):359-62. doi: 10.1093/rheumatology/keu321. Epub 2014 Aug 28.
• [22] Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.Arthritis Rheumatol. 2017 May;69(5):1054-1066. doi: 10.1002/art.40034. Epub 2017 Apr 6.
• [23] Environmental factor and inflammation-driven alteration of the total peripheral T-cell compartment in granulomatosis with polyangiitis.J Autoimmun. 2017 Mar;78:79-91. doi: 10.1016/j.jaut.2016.12.004. Epub 2016 Dec 28.
• [24] Corneal epithelial-specific cytokeratin 3 is an autoantigen in Wegener's granulomatosis-associated peripheral ulcerative keratitis.Invest Ophthalmol Vis Sci. 1999 Aug;40(9):2147-51.
• [25] Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.Pathol Oncol Res. 2020 Apr;26(2):937-946. doi: 10.1007/s12253-019-00615-2. Epub 2019 Mar 25.
• [26] Proteinase 3: the odd one out that became an autoantigen.J Leukoc Biol. 2017 Sep;102(3):689-698. doi: 10.1189/jlb.3MR0217-069R. Epub 2017 May 25.
• [27] The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping.Ann Rheum Dis. 2008 Jul;67(7):972-9. doi: 10.1136/ard.2007.077693. Epub 2007 Oct 29.
• [28] Genetics of ANCA-associated vasculitides: HLA and beyond.Clin Exp Rheumatol. 2014 May-Jun;32(3 Suppl 82):S90-7. Epub 2014 May 15.