Details of Disease

General Information of Disease (ID: DISBEQIT)

• Disease Name: Anti-neutrophil cytoplasmic antibody-associated vasculitis
• Synonyms: antineutrophil cytoplasmic antibody-associated vasculitis; AAV; ANCA-associated vasculitis
• Definition: Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.
• Disease Hierarchy:
  DISL61M8: Necrotizing vasculitis
  DISBEQIT: Anti-neutrophil cytoplasmic antibody-associated vasculitis
• Disease Identifiers:
  MONDO ID: MONDO_0015492
  MESH ID: D056648
  UMLS CUI: C2717865
  MedGen ID: 403453
  Orphanet ID: 156152
  SNOMED CT ID: 722191003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACR	TTAHE2N	Disputed	Genetic Variation	[1]
C5	TTKANGO	Strong	Biomarker	[2]
NLRC5	TTWZC78	Strong	Biomarker	[3]
PGD	TTZ3IFB	Strong	Biomarker	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TPMT	DEFQ8VO	Disputed	Altered Expression	[5]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GYPA	OTABU4YV	Disputed	Biomarker	[6]
CD177	OTS79FNF	Strong	Altered Expression	[7]
CYCS	OTBFALJD	Strong	Biomarker	[8]
GTF2I	OTUYL1TQ	Strong	Biomarker	[9]
MX1	OT6X8G5T	Strong	Biomarker	[10]

References

• [1] Orbital mass in ANCA-associated vasculitides: data on clinical, biological, radiological and histological presentation, therapeutic management, and outcome from 59 patients.Rheumatology (Oxford). 2019 Sep 1;58(9):1565-1573. doi: 10.1093/rheumatology/kez071.
• [2] Avacopan in the treatment of ANCA-associated vasculitis.Expert Opin Investig Drugs. 2018 May;27(5):491-496. doi: 10.1080/13543784.2018.1472234. Epub 2018 May 8.
• [3] The expression of NOD2, NLRP3 and NLRC5 and renal injury in anti-neutrophil cytoplasmic antibody-associated vasculitis.J Transl Med. 2019 Jun 11;17(1):197. doi: 10.1186/s12967-019-1949-5.
• [4] A plasmid-encoded peptide from Staphylococcus aureus induces anti-myeloperoxidase nephritogenic autoimmunity.Nat Commun. 2019 Jul 29;10(1):3392. doi: 10.1038/s41467-019-11255-0.
• [5] Azathioprine Hypersensitivity Syndrome in a Cohort of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Patients.J Allergy Clin Immunol Pract. 2019 Mar;7(3):1004-1009. doi: 10.1016/j.jaip.2018.10.018. Epub 2018 Oct 24.
• [6] Update on ANCA-associated vasculitis: from biomarkers to therapy.J Nephrol. 2019 Dec;32(6):871-882. doi: 10.1007/s40620-019-00628-9. Epub 2019 Jul 12.
• [7] Differential expression of granulopoiesis related genes in neutrophil subsets distinguished by membrane expression of CD177.PLoS One. 2014 Jun 13;9(6):e99671. doi: 10.1371/journal.pone.0099671. eCollection 2014.
• [8] A novel glucocorticoid-free maintenance regimen for anti-neutrophil cytoplasm antibody-associated vasculitis.Rheumatology (Oxford). 2019 Feb 1;58(2):260-268. doi: 10.1093/rheumatology/key288.
• [9] Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.Sci Rep. 2019 Nov 8;9(1):16366. doi: 10.1038/s41598-019-52920-0.
• [10] Interferon-inducible Mx1 protein is highly expressed in renal tissues from treatment-nave lupus nephritis, but not in those under immunosuppressive treatment.Mod Rheumatol. 2018 Jul;28(4):661-669. doi: 10.1080/14397595.2017.1404711. Epub 2017 Nov 30.