Details of Disease | DrugMAP

General Information of Disease (ID: DISZAZ6M)

Disease Name	Pemphigus
Definition	Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus
Disease Hierarchy	DIS3AYL6: Autoimmune bullous skin disease DISZAZ6M: Pemphigus
Disease Identifiers	MONDO ID MONDO_0006594 MESH ID D010392 UMLS CUI C0030807 MedGen ID 45369 SNOMED CT ID 65172003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C3	TTJGY7A	Strong	Biomarker	[1]
CHRM1	TTZ9SOR	Strong	Biomarker	[2]
CHRNA7	TTLA931	Strong	Biomarker	[2]
DSG3	TTEO4P8	Strong	Biomarker	[3]
KLRG1	TT299E6	Strong	Biomarker	[4]
MS4A1	TTUE541	Strong	Biomarker	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD207	OTI9RUDN	Strong	Biomarker	[6]
COL17A1	OTID5AH2	Strong	Biomarker	[7]
DSC1	OTNII6GZ	Strong	Biomarker	[8]
DSC2	OTODVH8K	Strong	Biomarker	[9]
DSC3	OTYG47F8	Strong	Biomarker	[8]
DSG1	OT11HC3A	Strong	Biomarker	[10]
DSG4	OTWIQDC4	Strong	Biomarker	[11]
HLA-DPB1	OTW8JHU2	Strong	Altered Expression	[12]
KRT20	OT4RB40L	Strong	Biomarker	[5]
LAIR2	OTKCADXC	Strong	Genetic Variation	[13]
PRPF6	OT3U0ABN	Strong	Biomarker	[14]
RBM45	OTWTHD77	Strong	Biomarker	[12]
RNF114	OTF06FRP	Strong	Altered Expression	[15]
ST18	OTPRIMTA	Strong	Biomarker	[16]
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⏷ Show the Full List of 14 DOT(s)

References

1	Pemphigus.Lancet. 2019 Sep 7;394(10201):882-894. doi: 10.1016/S0140-6736(19)31778-7.
2	Differential coupling of M1 muscarinic and alpha7 nicotinic receptors to inhibition of pemphigus acantholysis.J Biol Chem. 2008 Feb 8;283(6):3401-3408. doi: 10.1074/jbc.M704956200. Epub 2007 Dec 11.
3	The use of rituximab as an adjuvant in the treatment of oral pemphigus vulgaris.J Oral Pathol Med. 2020 Jan;49(1):91-95. doi: 10.1111/jop.12951. Epub 2019 Sep 6.
4	A 3'UTR polymorphism marks differential KLRG1 mRNA levels through disruption of a miR-584-5p binding site and associates with pemphigus foliaceus susceptibility.Biochim Biophys Acta. 2016 Oct;1859(10):1306-13. doi: 10.1016/j.bbagrm.2016.07.006. Epub 2016 Jul 14.
5	Diagnosis and management of pemphigus: Recommendations of an international panel of experts.J Am Acad Dermatol. 2020 Mar;82(3):575-585.e1. doi: 10.1016/j.jaad.2018.02.021. Epub 2018 Feb 10.
6	Langerhans Cells Prevent Autoimmunity via Expansion of Keratinocyte Antigen-Specific Regulatory T Cells.EBioMedicine. 2018 Jan;27:293-303. doi: 10.1016/j.ebiom.2017.12.022. Epub 2017 Dec 20.
7	Validation of chemiluminescent enzyme immunoassay in detection of autoantibodies in pemphigus and pemphigoid.J Dermatol Sci. 2017 Mar;85(3):208-215. doi: 10.1016/j.jdermsci.2016.12.007. Epub 2016 Dec 6.
8	Nonclassical pemphigus with exclusively IgG anti-desmocollin 3-specific antibodies.Australas J Dermatol. 2019 Aug;60(3):e217-e219. doi: 10.1111/ajd.12991. Epub 2019 Jan 22.
9	Development of a Desmocollin-3 Active Mouse Model Recapitulating Human Atypical Pemphigus.Front Immunol. 2019 Jun 19;10:1387. doi: 10.3389/fimmu.2019.01387. eCollection 2019.
10	Endocytosis of IgG, Desmoglein 1, and Plakoglobin in Pemphigus Foliaceus Patient Skin.Front Immunol. 2019 Nov 12;10:2635. doi: 10.3389/fimmu.2019.02635. eCollection 2019.
11	Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.J Clin Invest. 2004 Nov;114(10):1484-92. doi: 10.1172/JCI20480.
12	Human leukocyte antigens class I and class II in patients with pemphigus in southern Turkey.Int J Dermatol. 2013 Jan;52(1):53-8. doi: 10.1111/j.1365-4632.2012.05541.x.
13	Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus.Hum Genet. 2016 Feb;135(2):233-44. doi: 10.1007/s00439-015-1626-6. Epub 2015 Dec 31.
14	Characterization of bullous pemphigoid antibodies by use of recombinant bullous pemphigoid antigen proteins.J Invest Dermatol. 1991 Oct;97(4):725-8. doi: 10.1111/1523-1747.ep12484223.
15	Usefulness of miRNA-338-3p in the diagnosis of pemphigus and its correlation with disease severity.PeerJ. 2018 Aug 3;6:e5388. doi: 10.7717/peerj.5388. eCollection 2018.
16	The association between ST18 gene polymorphism and severe pemphigus disease among Iranian population.Exp Dermatol. 2018 Dec;27(12):1395-1398. doi: 10.1111/exd.13778. Epub 2018 Oct 22.