Details of Disease

General Information of Disease (ID: DISENR62)

• Disease Name: Pemphigus vulgaris
• Synonyms: pemphigus vulgaris, familial; familial pemphigus vulgaris
• Disease Class: EB40: Pemphigus
• Definition: Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).|Editor note: check familial vs acquired
• Disease Hierarchy:
  DISZAZ6M: Pemphigus
  DISENR62: Pemphigus vulgaris
• ICD Code:
  ICD-11: ICD-11: EB40
  ICD-9: ICD-9: 694.4
  Expand ICD-11: 'EB40
  Expand ICD-10: 'L10; 'L10.5; 'L10.8; 'L10.9
  Expand ICD-9: 694.4
• Disease Identifiers:
  MONDO ID: MONDO_0008219
  MESH ID: D010392
  UMLS CUI: C0030809
  MedGen ID: 10621
  Orphanet ID: 704
  SNOMED CT ID: 49420001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Dapsone	DM4LT8A	Approved	Small molecular drug	[1]
Etanercept	DMCV109	Approved	Monoclonal antibody	[2]
Mycophenolate mofetil	DMPQAGE	Approved	Small molecular drug	[3]
Rituximab	DM1YVZT	Approved	Antibody	[4]

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
PRN1008	DMBZ6CP	Phase 2	NA	[5]
VAY736	DML2CPW	Phase 2	Antibody	[6]
SYNT001	DMVFENQ	Phase 1/2	NA	[6]
DSG3-CAART	DMH9GWW	Phase 1	CAR-T cell therapy	[7]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C3	TTJGY7A	Limited	Biomarker	[8]
MAPKAPK2	TTMUG9D	moderate	Biomarker	[9]
CYP21A2	TTP4GLG	Strong	Genetic Variation	[10]
DSG3	TTEO4P8	Strong	Biomarker	[11]
ICOS	TTE5VP6	Strong	Genetic Variation	[12]
NOTCH4	TTXDIK2	Strong	Genetic Variation	[10]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HLA-DQB1	OTVVI3UI	Limited	Genetic Variation	[13]
TAP2	OTWSYFI7	Limited	Genetic Variation	[12]
ATP2C1	OTQN51T3	moderate	Biomarker	[14]
DSC2	OTODVH8K	moderate	Biomarker	[14]
DSG2	OTJPB2TO	moderate	Biomarker	[15]
DSG4	OTWIQDC4	moderate	Biomarker	[16]
HLA-DRA	OT7KZMP2	moderate	Genetic Variation	[17]
MBD3	OTRL76H5	moderate	Altered Expression	[18]
PKP3	OTPL1HRB	moderate	Posttranslational Modification	[19]
RPGRIP1L	OT6Z069I	moderate	Biomarker	[20]
SNRNP70	OTP52YZ3	moderate	Biomarker	[21]
SPAG16	OTIFUPYD	moderate	Biomarker	[22]
SUV39H2	OTU0F4LL	moderate	Biomarker	[18]
HCP5	OTV0YRI8	Strong	Genetic Variation	[10]
ST18	OTPRIMTA	Strong	Genetic Variation	[12]
STK19	OTYM6437	Strong	Genetic Variation	[10]

References

• [1] Dapsone FDA Label
• [2] ClinicalTrials.gov (NCT00135720) Study of Etanercept (Enbrel) in the Treatment of Pemphigus Vulgaris
• [3] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6831).
• [4] ClinicalTrials.gov (NCT02383589) A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Rituximab Versus MMF in Patients With Pemphigus Vulgaris. U.S. National Institutes of Health.
• [5] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [6] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [7] ClinicalTrials.gov (NCT04422912) A Phase 1, Open-label, Safety and Dosing Study of Autologous Desmoglein 3 Chimeric Autoantibody Receptor T Cells (DSG3-CAART) in Subjects With Active, Anti-DSG3, Mucosal-dominant Pemphigus Vulgaris. U.S.National Institutes of Health.
• [8] Pemphigus vulgaris - approach and management.Exp Ther Med. 2019 Dec;18(6):5056-5060. doi: 10.3892/etm.2019.7964. Epub 2019 Aug 30.
• [9] MAPKAP kinase 2 (MK2)-dependent and -independent models of blister formation in pemphigus vulgaris.J Invest Dermatol. 2014 Jan;134(1):68-76. doi: 10.1038/jid.2013.224. Epub 2013 Jun 27.
• [10] Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.J Invest Dermatol. 2012 Jul;132(7):1798-805. doi: 10.1038/jid.2012.46. Epub 2012 Mar 22.
• [11] Validation of the BIOCHIP test for the diagnosis of bullous pemphigoid, pemphigus vulgaris and pemphigus foliaceus.J Eur Acad Dermatol Venereol. 2020 Jan;34(1):153-160. doi: 10.1111/jdv.15770. Epub 2019 Jul 30.
• [12] Single-nucleotide polymorphisms associated with pemphigus vulgaris: Potent markers for better treatment and personalized medicine.Int J Immunogenet. 2020 Feb;47(1):41-49. doi: 10.1111/iji.12451. Epub 2019 Jul 24.
• [13] Investigation of the predisposing factor of pemphigus and its clinical subtype through a genome-wide association and next generation sequence analysis.J Eur Acad Dermatol Venereol. 2019 Feb;33(2):410-415. doi: 10.1111/jdv.15227. Epub 2018 Sep 19.
• [14] Synergy among non-desmoglein antibodies contributes to the immunopathology of desmoglein antibody-negative pemphigus vulgaris.J Biol Chem. 2019 Mar 22;294(12):4520-4528. doi: 10.1074/jbc.RA118.006743. Epub 2019 Jan 28.
• [15] Role of Dsg1- and Dsg3-Mediated Signaling in Pemphigus Autoantibody-Induced Loss of Keratinocyte Cohesion.Front Immunol. 2019 May 24;10:1128. doi: 10.3389/fimmu.2019.01128. eCollection 2019.
• [16] Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.Cell. 2003 Apr 18;113(2):249-60. doi: 10.1016/s0092-8674(03)00273-3.
• [17] Association Study and Fine-Mapping MajorHistocompatibility Complex Analysisof Pemphigus Vulgaris in aHanChinese Population.J Invest Dermatol. 2018 Nov;138(11):2307-2314. doi: 10.1016/j.jid.2018.05.011. Epub 2018 May 30.
• [18] Aberrant epigenetic modifications in peripheral blood mononuclear cells from patients with pemphigus vulgaris.Br J Dermatol. 2012 Sep;167(3):523-31. doi: 10.1111/j.1365-2133.2012.11007.x. Epub 2012 Aug 10.
• [19] Pemphigus vulgaris autoimmune globulin induces Src-dependent tyrosine-phosphorylation of plakophilin 3 and its detachment from desmoglein 3.Autoimmunity. 2014 Mar;47(2):134-40. doi: 10.3109/08916934.2013.866100. Epub 2013 Dec 16.
• [20] RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis.PLoS Genet. 2019 Jan 28;15(1):e1007914. doi: 10.1371/journal.pgen.1007914. eCollection 2019 Jan.
• [21] The molecular basis for the presence of two autoimmune diseases occurring simultaneously--preliminary observations based on computer analysis.Autoimmunity. 2012 May;45(3):253-63. doi: 10.3109/08916934.2011.632454. Epub 2011 Nov 29.
• [22] HLA class II polymorphism contributes to specify desmoglein derived peptides in pemphigus vulgaris and pemphigus foliaceus.J Autoimmun. 2000 Aug;15(1):67-73. doi: 10.1006/jaut.2000.0388.