Details of Disease

General Information of Disease (ID: DISZG4YX)

Disease Name Stevens-Johnson syndrome
Synonyms
Stevens-Johnson syndrome, susceptibility to; hypersensitivity syndrome, carbamazepine-induced, susceptibility to; severe cutaneous adverse reaction, susceptibility to; toxic Epidermal necrolysis, susceptibility to; erythema multiforme major; Dermatostomatitis, Stevens Johnson type; Stevens Johnson syndrome
Definition
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Disease Hierarchy
DISIWPFR: Toxic epidermal necrolysis
DIS6SVEE: Syndromic disease
DISZG4YX: Stevens-Johnson syndrome
Disease Identifiers
MONDO ID
MONDO_0018229
MESH ID
D013262
UMLS CUI
C0038325
MedGen ID
20955
Orphanet ID
36426
SNOMED CT ID
73442001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 17 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALB TTFNGC9 Limited Therapeutic [1]
CSF3 TT5TQ2W Limited Therapeutic [2]
MIF TT6804T Limited Biomarker [3]
CAV1 TTXUBN2 Strong Biomarker [4]
COPS5 TTSTNJR Strong Biomarker [4]
EP300 TTGH73N Strong Biomarker [4]
HLA-A TTHONFT Strong Genetic Variation [5]
HSPG2 TT5UM29 Strong Biomarker [6]
NEDD4 TT1QU6G Strong Biomarker [4]
NUCB1 TT6A5ZL Strong Biomarker [4]
PARP1 TTVDSZ0 Strong Biomarker [4]
PML TTLH9NY Strong Biomarker [4]
PTGER3 TTPNGDE Strong Biomarker [7]
PTGIS TTLXKZR Strong Biomarker [4]
TGM1 TT7A949 Strong Altered Expression [8]
TPP1 TTOVYPT Strong Biomarker [9]
VCP TTHNLSB Strong Biomarker [4]
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⏷ Show the Full List of 17 DTT(s)
This Disease Is Related to 19 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BAG6 OT4Z0S2U Strong Biomarker [10]
CCR10 OT7ZWSSD Strong Biomarker [11]
CELF2 OTLJJ4VT Strong Biomarker [4]
CUL1 OTXPE1UZ Strong Biomarker [4]
CUL4A OTTBV70J Strong Biomarker [4]
DDX39B OTEVCFVU Strong Genetic Variation [12]
DERL1 OTJUS74N Strong Biomarker [4]
ELMO1 OTY2ORXK Strong Biomarker [4]
FBXO6 OT58MKP3 Strong Biomarker [4]
GNLY OTZJKA8C Strong Genetic Variation [13]
HCP5 OTV0YRI8 Strong Genetic Variation [14]
HLA-C OTV38BUJ Strong Genetic Variation [15]
POU5F1 OTDHHN7O Strong Genetic Variation [16]
PSMC5 OTJOORMR Strong Biomarker [4]
PSORS1C1 OT9HK436 Strong Genetic Variation [16]
RB1 OT9VMY7B Strong Biomarker [4]
RBX1 OTYA1UIO Strong Biomarker [4]
TCF19 OT7NKLF9 Strong Genetic Variation [16]
IKZF1 OTCW1FKL Definitive SusceptibilityMutation [17]
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⏷ Show the Full List of 19 DOT(s)

References

1 Protein-losing cytomegalovirus gastritis in a patient with Stevens-Johnson syndrome.Digestion. 2002;65(4):234-7. doi: 10.1159/000063818.
2 Toxic epidermal necrolysis in a patient with severe aplastic anemia treated with cyclosporin A and G-CSF.J Med. 2001;32(1-2):31-9.
3 The role of macrophage migration inhibition factor in toxic epidermal necrolysis.Int J Dermatol. 1997 Oct;36(10):776-8. doi: 10.1046/j.1365-4362.1997.00043.x.
4 Systems pharmacological analysis of drugs inducing stevens-johnson syndrome and toxic epidermal necrolysis. Chem Res Toxicol. 2015 May 18;28(5):927-34. doi: 10.1021/tx5005248. Epub 2015 Apr 3.
5 Drug allergy.Allergy Asthma Proc. 2019 Nov 1;40(6):474-479. doi: 10.2500/aap.2019.40.4275.
6 The Epidemiology of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in China.J Immunol Res. 2018 Feb 11;2018:4320195. doi: 10.1155/2018/4320195. eCollection 2018.
7 Prostaglandin E receptor subtype EP3 expression in human conjunctival epithelium and its changes in various ocular surface disorders.PLoS One. 2011;6(9):e25209. doi: 10.1371/journal.pone.0025209. Epub 2011 Sep 22.
8 Epithelial hyperproliferation and transglutaminase 1 gene expression in Stevens-Johnson syndrome conjunctiva.Am J Pathol. 1999 Feb;154(2):331-6. doi: 10.1016/S0002-9440(10)65279-0.
9 Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res. 2011 Nov;97(1-2):190-7. doi: 10.1016/j.eplepsyres.2011.08.010. Epub 2011 Sep 13.
10 Association of ABCB1,CYP3A4,EPHX1,FAS,SCN1A,MICA, andBAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy.Epilepsia. 2014 Aug;55(8):1301-6. doi: 10.1111/epi.12655. Epub 2014 May 23.
11 Involvement of CCL27-CCR10 interactions in drug-induced cutaneous reactions.J Allergy Clin Immunol. 2004 Aug;114(2):335-40. doi: 10.1016/j.jaci.2004.04.034.
12 A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.Pharmacogenomics J. 2013 Feb;13(1):60-9. doi: 10.1038/tpj.2011.41. Epub 2011 Sep 13.
13 Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14.
14 HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.Eur J Clin Pharmacol. 2014 Mar;70(3):275-8. doi: 10.1007/s00228-013-1622-5. Epub 2013 Dec 10.
15 Association between HLA-B*44:03-HLA-C*07:01 haplotype and cold medicine-related Stevens-Johnson syndrome with severe ocular complications in Thailand.Br J Ophthalmol. 2018 Sep;102(9):1303-1307. doi: 10.1136/bjophthalmol-2017-311823. Epub 2018 Apr 29.
16 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.Orphanet J Rare Dis. 2011 Jul 29;6:52. doi: 10.1186/1750-1172-6-52.
17 IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.J Allergy Clin Immunol. 2015 Jun;135(6):1538-45.e17. doi: 10.1016/j.jaci.2014.12.1916. Epub 2015 Feb 8.