SJS
MCID: SVR097
MIFTS: 68

Severe Cutaneous Adverse Reaction (SJS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Severe Cutaneous Adverse Reaction

MalaCards integrated aliases for Severe Cutaneous Adverse Reaction:

Name: Severe Cutaneous Adverse Reaction 57 37 17
Stevens-Johnson Syndrome 57 12 73 58 72 36 54 44 15 17 70
Toxic Epidermal Necrolysis 57 58 72 54 6 17 70
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility to 57 13 6
Susceptibility to Severe Cutaneous Adverse Reaction 29 6 39
Stevens-Johnson Syndrome, Susceptibility to 57 6
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 70
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Spectrum 58
Severe Cutaneous Adverse Reaction, Susceptibility to 57
Hypersensitivity Syndrome, Carbamazepine-Induced 57
Toxic Epidermal Necrolysis, Susceptibility to 57
Dermatostomatitis, Stevens Johnson Type 58
Dermatostomatitis Stevens Johnson Type 72
Drug-Induced Stevens Johnson Syndrome 70
Toxic Epidermolysis 58
Lyell Syndrome 58
Sjs-Ten 58
Sjs 72
Ten 72

Characteristics:

Orphanet epidemiological data:

58
toxic epidermal necrolysis
Inheritance: Not applicable; Age of onset: All ages;
stevens-johnson syndrome
Inheritance: Not applicable; Age of onset: All ages;
stevens-johnson syndrome/toxic epidermal necrolysis spectrum
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Severe Cutaneous Adverse Reaction

KEGG : 36 Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then epidermal separation occurs and vesicles and bullae are formed. Inflammatory changes including purulent conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe complications or sequelae secondary to SJS and TEN are higher in patients with mucosal and ophthalmic involvement. The SJS and TEN are considered the same disease process, and the distinction is made based on body surface area involvement. The SJS is characterized by less than 10% of the body surface area of epidermal detachment, and TEN by more than 30%. Various etiologic factors have been implicated as causes of SJS-TEN. These include infection, vaccination, drugs, systemic diseases, physical agents, and food. Drugs are the most commonly blamed. It has been reported that SJS-TEN is strongly associated with the specific variants of the human leukocyte antigen HLA-A and HLA-B genes. There is still no consensus on a definite treatment method for SJS-TEN. Systemic steroids and IVIG are used most frequently in medical treatment and treatment options including cyclosporine, plasmapheresis and hemodialysis are required more rarely.

MalaCards based summary : Severe Cutaneous Adverse Reaction, also known as stevens-johnson syndrome, is related to stevens-johnson syndrome/toxic epidermal necrolysis and sjogren syndrome. An important gene associated with Severe Cutaneous Adverse Reaction is HLA-B (Major Histocompatibility Complex, Class I, B), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and NF-kappaB Signaling. The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are nausea and vomiting and dysphagia

Disease Ontology : 12 A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.

UniProtKB/Swiss-Prot : 72 Stevens-Johnson syndrome: A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases.

Wikipedia : 73 Stevens-Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal... more...

More information from OMIM: 608579

Related Diseases for Severe Cutaneous Adverse Reaction

Diseases related to Severe Cutaneous Adverse Reaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 701)
# Related Disease Score Top Affiliating Genes
1 stevens-johnson syndrome/toxic epidermal necrolysis 32.9 IKZF1 HLA-B HLA-A
2 sjogren syndrome 31.9 HSPG2 FASLG FAS
3 graft-versus-host disease 31.7 HLA-B HLA-A GZMB FASLG FAS
4 erythema multiforme 31.2 GZMB GNLY FASLG
5 pancytopenia 31.2 PRF1 IKZF1 CD8A CD4
6 immune deficiency disease 31.1 HLA-B HLA-A FASLG FAS CYP3A4 CD8A
7 variola major 30.9 CD8A CD4
8 hemophagocytic lymphohistiocytosis 30.8 PRF1 GZMB GNLY FAS
9 lymphopenia 30.8 IKZF1 FASLG FAS
10 t-cell lymphoblastic leukemia/lymphoma 30.8 IKZF1 FASLG FAS CD4
11 thrombocytopenia 30.8 PRF1 HLA-B HLA-A GZMB FASLG FAS
12 leukemia, acute lymphoblastic 30.8 IKZF1 HLA-B CYP3A4 CD8A CD4
13 disease by infectious agent 30.7 PPIG GNLY CD8A CD4
14 lymphoma, non-hodgkin, familial 30.7 PRF1 IKZF1 HLA-A GZMB FAS CD8A
15 hantavirus hemorrhagic fever with renal syndrome 30.7 GZMB CD8A CD4
16 alopecia areata 30.7 HLA-B HLA-A GZMB FASLG
17 spongiotic dermatitis 30.7 CD8A CD4
18 skin sarcoidosis 30.7 CD8A CD4
19 drug-induced hepatitis 30.7 CYP2D6 CYP2C9 CYP2C19
20 syphilis 30.6 FAS CD8A CD4
21 blepharoconjunctivitis 30.6 CYP2B6 CD4
22 herpes zoster 30.6 HLA-B HLA-A CD8A CD4
23 corneal disease 30.6 KRT3 CD8A CD4
24 exanthem 30.6 CYP3A4 CD8A CD4
25 secondary syphilis 30.6 CD8A CD4
26 aplastic anemia 30.5 PRF1 HLA-B HLA-A FASLG FAS CYP3A4
27 viral infectious disease 30.5 HLA-B HLA-A GZMB FAS CD4
28 leprosy 3 30.5 HLA-B HLA-A GNLY CD8A CD4
29 lennox-gastaut syndrome 30.5 PPIG CYP3A4 CYP2C19
30 human immunodeficiency virus type 1 30.5 HLA-B HLA-A CYP3A4 CYP2D6 CD4
31 autoimmune hepatitis 30.5 HLA-A FAS CYP2D6
32 major depressive disorder 30.3 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
33 chickenpox 30.3 PRF1 CD8A CD4
34 phenytoin allergy 30.3 PRF1 HLA-B GZMB GNLY FASLG CYP2C9
35 bilirubin metabolic disorder 30.3 PPIG CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
36 keratitis, hereditary 30.2 KRT3 CD8A CD4
37 autoimmune disease 30.2 PRF1 HLA-B HLA-A FASLG FAS
38 schwartz-jampel syndrome, type 1 11.7
39 ritter's disease 11.4
40 5-oxoprolinase deficiency 11.2
41 auditory neuropathy spectrum disorder 11.2
42 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 10.9
43 swyer-james syndrome 10.9
44 skin disease 10.8
45 conjunctivitis 10.7
46 lupus erythematosus 10.7
47 toxic shock syndrome 10.6
48 pemphigus 10.6
49 cutaneous lupus erythematosus 10.6
50 pemphigoid 10.6

Graphical network of the top 20 diseases related to Severe Cutaneous Adverse Reaction:



Diseases related to Severe Cutaneous Adverse Reaction

Symptoms & Phenotypes for Severe Cutaneous Adverse Reaction

Human phenotypes related to Severe Cutaneous Adverse Reaction:

58 31 (show top 50) (show all 98)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002017
2 dysphagia 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002015
3 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0012378
5 fever 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001945
6 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001873
7 erythema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
8 macule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012733
9 weight loss 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001824
10 neutropenia 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001875
11 sepsis 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Very rare (<4-1%) HP:0100806
12 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0008066
13 diarrhea 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002014
14 acantholysis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0100792
15 conjunctival hyperemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030953
16 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002205
17 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
18 anemia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001903
19 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
20 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002910
21 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
22 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0200042
23 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002027
24 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
25 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
26 cough 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0012735
27 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
28 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
29 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
30 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
31 dysuria 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0100518
32 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002098
33 excessive salivation 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0003781
34 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
35 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
36 oral mucosal blisters 58 31 frequent (33%) Frequent (79-30%) HP:0200097
37 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
38 genital blistering 58 31 frequent (33%) Frequent (79-30%) HP:0031464
39 pharyngitis 58 31 frequent (33%) Frequent (79-30%) HP:0025439
40 abnormal bronchus morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025426
41 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
42 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001645
43 generalized abnormality of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0011354
44 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
45 photophobia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000613
46 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000083
47 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
48 gastrointestinal inflammation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004386
49 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
50 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001637

Clinical features from OMIM®:

608579 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.55 CYP2B6 GZMB HLA-A HLA-B
2 Decreased viability GR00301-A 9.55 GZMB
3 Decreased viability GR00342-S-2 9.55 CD4
4 Decreased viability GR00381-A-1 9.55 CYP2C19 CYP2D6
5 Decreased viability GR00386-A-1 9.55 FASLG HLA-A
6 Decreased viability GR00402-S-2 9.55 CD8A CYP2B6 CYP2D6 FASLG GNLY HSPG2

MGI Mouse Phenotypes related to Severe Cutaneous Adverse Reaction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 CD4 CD8A FAS FASLG HSPG2 IKZF1

Drugs & Therapeutics for Severe Cutaneous Adverse Reaction

Drugs for Severe Cutaneous Adverse Reaction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Molgramostim Investigational Phase 4 99283-10-0
4 Immunosuppressive Agents Phase 4
5 Calcineurin Inhibitors Phase 4
6 Antifungal Agents Phase 4
7 Cyclosporins Phase 4
8 Anti-Infective Agents Phase 4
9 Ophthalmic Solutions Phase 4
10
Etanercept Approved, Investigational Phase 3 185243-69-0
11
Coal tar Approved Phase 3 8007-45-2
12
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
13
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
14 Anti-Inflammatory Agents Phase 3
15 Immunologic Factors Phase 2, Phase 3
16 Anti-Inflammatory Agents, Non-Steroidal Phase 3
17 Analgesics Phase 3
18 Analgesics, Non-Narcotic Phase 3
19 Pharmaceutical Solutions Phase 2, Phase 3
20 Adjuvants, Immunologic Phase 2, Phase 3
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
22
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
23 Micronutrients Phase 1, Phase 2
24 Trace Elements Phase 1, Phase 2
25 Nutrients Phase 1, Phase 2
26 Vitamin B9 Phase 1, Phase 2
27 Vitamin B Complex Phase 1, Phase 2
28 Folate Phase 1, Phase 2
29 Photosensitizing Agents Phase 1, Phase 2
30 Vitamins Phase 1, Phase 2
31 Vitamin B2 Phase 1, Phase 2
32
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
33
tannic acid Approved Phase 1 1401-55-4
34 Anesthetics Phase 1
35 Anesthetics, Local Phase 1
36
Isotretinoin Approved 4759-48-2 5538 5282379
37
Allopurinol Approved 315-30-0 2094
38 Anti-Bacterial Agents
39 Immunoglobulin A
40 Immunoglobulins
41 Rho(D) Immune Globulin
42 Immunoglobulins, Intravenous
43 gamma-Globulins
44 Antibodies

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Efficacy of 0.05% Cyclosporin Eye Drop in Stevens Johnson Syndrome Patient With Chronic Dry Eye Completed NCT01488396 Phase 4 0.05%cyclosporin eye drop
2 Evaluation of G-CSF as a Treatment of Toxic Epidermal Necrolysis Recruiting NCT02739295 Phase 4 recombinant granulocyte - colony stimulating factor;NaCl 0.9%
3 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids. Completed NCT01696500 Phase 3 Intravenous immunoglobulin
4 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
5 NATIENS: A Phase III Randomized Double-Blinded Placebo Controlled Study to Determine the Optimal Management and Mechanisms of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3 Harmonized supportive care;Cyclosporine 5 mg/kg bid days 0-14;Etanercept 50 mg sc day 0 and day 3
6 Evaluating the Therapeutic Efficacy of Filgrastim in Severe Bullous Drug Eruptions (Lyell and Stevens-Johnson Syndromes) Not yet recruiting NCT04651439 Phase 2, Phase 3 Filgrastim;Placebo
7 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
8 Mesenchymal Stromal Cells Treatment in Lyell Syndrome: A Pilot Phase 1-2 Open Trial Not yet recruiting NCT04711200 Phase 1, Phase 2 Adipose derived stromal cells intravenously injected
9 Palifermin Treatment of Toxic Epidermal Necrolysis Terminated NCT02037347 Phase 1, Phase 2 Palifermin
10 A Randomized Placebo Controlled Split-body Double-blind Phase II Clinical Trial to Investigate the Safety and Efficacy of Clobetasol 0.05% Ointment for the Treatment of Toxic Epidermal Necrolysis (TEN) Withdrawn NCT02319616 Phase 1, Phase 2 Clobetasol 0.05% ointment;Placebo
11 Pilot Study Comparing Remicade (Infliximab) vs. Standard Care in the Treatment of Toxic Epidermal Necrolysis Withdrawn NCT00372723 Phase 2 Remicaide (infliximab)
12 Infliximab Therapy to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis Withdrawn NCT01256489 Phase 1, Phase 2 Infliximab
13 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
14 Platelet Rich-plasma in Management of Chronic Multiple Oral Ulcers Completed NCT03878771 Phase 1 Dermovate cream in Orabase
15 Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study Unknown status NCT02795143 Isotretinoin
16 A Prospective Study to Prove the Usefulness of HLA-B*5801 Screening Test for the Prevention of Allopurinol-induced Severe Cutaneous Adverse Reaction in Patient With Chronic Kidney Disease Unknown status NCT03046914
17 The Multicenter Registry of Patients With Severe Cutaneous Adverse Reactions Among Tertiary Medical Institutes in Thailand Unknown status NCT02574988
18 Drug Patch Tests, Enzyme-linked Immunosorbent Spot Assay (Elispot) and Lymphocyte Transformation Tests in Patients With Severe Cutaneous Adverse Reaction to Drugs (SCARs) Unknown status NCT03176342
19 Comparison of Corneal Epitheliotropic Factors in Autologous Serum Eye Drops Between Nonautoimmune Dry Eye and Stevens-Johnson Syndrome With Dry Eye Unknown status NCT01122303
20 Salivary Gland and Labial Mucous Membrane Transplantation in the Treatment of Severe Symblepharon and Dry Eye in Patients With Stevens-Johnson Syndrome. Completed NCT01178242
21 Stevens-Johnson Syndrome Associated With Antimicrobial Completed NCT00844038
22 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
23 Association of Cytokines With the Development of Complications in Burn and Toxic Epidermal Necrolysis (TENS) Patients Recruiting NCT04252651
24 An Evaluation of Tangible Boost Replenishing System for Patients With Stevens Johnson Syndrome, Sjogren's Syndrome, and Graft Versus Host Disease Recruiting NCT04313725
25 Adverse Cutaneous Drug Reactions Collection of Clinical Data and Biological Samples Recruiting NCT03659227
26 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
27 An Investigator-initiated Trial (IIT) on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation in Corneal Limbal Deficiency Patients Available NCT02149732
28 A Prospective Multicenter Cohort Study Assessing Outcomes in Stevens Johnsons Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT03585946 Site specific standard of care comparison

Search NIH Clinical Center for Severe Cutaneous Adverse Reaction

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Cutaneous Adverse Reaction cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Severe Cutaneous Adverse Reaction:
Cultivated corneal epithelial stem cells for treatment of ocular surface damage
Embryonic/Adult Cultured Cells Related to Severe Cutaneous Adverse Reaction:
Limbal corneal epithelial stem cells PMIDs: 23055668

Cochrane evidence based reviews: stevens-johnson syndrome

Genetic Tests for Severe Cutaneous Adverse Reaction

Genetic tests related to Severe Cutaneous Adverse Reaction:

# Genetic test Affiliating Genes
1 Susceptibility to Severe Cutaneous Adverse Reaction 29 HLA-A HLA-B

Anatomical Context for Severe Cutaneous Adverse Reaction

MalaCards organs/tissues related to Severe Cutaneous Adverse Reaction:

40
Skin, Eye, Lung, Kidney, Trachea, Myeloid, Salivary Gland

Publications for Severe Cutaneous Adverse Reaction

Articles related to Severe Cutaneous Adverse Reaction:

(show top 50) (show all 3737)
# Title Authors PMID Year
1
HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children. 57 6 61
23588310 2013
2
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. 61 57 6
21428769 2011
3
Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. 6 57 61
21428768 2011
4
Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. 61 57 6
16538176 2006
5
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. 61 6 57
15743917 2005
6
Medical genetics: a marker for Stevens-Johnson syndrome. 61 6 57
15057820 2004
7
The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification. 6 57 61
8006430 1994
8
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. 61 57
19029983 2008
9
Strong association between HLA-A*0206 and Stevens-Johnson syndrome in the Japanese. 57 61
17258541 2007
10
A marker for Stevens-Johnson syndrome ...: ethnicity matters. 61 57
16415921 2006
11
Risk of Stevens-Johnson syndrome and toxic epidermal necrolysis during first weeks of antiepileptic therapy: a case-control study. Study Group of the International Case Control Study on Severe Cutaneous Adverse Reactions. 57 61
10392983 1999
12
Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin. 54 57
9774279 1998
13
Medication use and the risk of Stevens-Johnson syndrome or toxic epidermal necrolysis. 57 61
7477195 1995
14
Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. 57 61
8420497 1993
15
Genetic susceptibility to toxic epidermal necrolysis. 57 61
3477129 1987
16
Etiologic factors of the Stevens-Johnson syndrome. 57 61
7375977 1980
17
Underexpression and overexpression of Fas and Fas ligand: a double-edged sword. 61 54
20408337 2010
18
Serum levels of the Th1 promoter IL-12 and the Th2 chemokine TARC are elevated in erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis and correlate with soluble Fas ligand expression. An immunoenzymatic study from the Italian Group of Immunopathology. 54 61
17460400 2007
19
Phenotypic diversity in delayed drug hypersensitivity: an immunologic explanation. 54 61
17008937 2006
20
Serious skin reactions and selective COX-2 inhibitors: a case series from prescription-event monitoring in England. 61 54
16872242 2006
21
Clinical heterogeneity of drug hypersensitivity. 61 54
15767024 2005
22
Abnormal protein profiles in tears with dry eye syndrome. 61 54
12888052 2003
23
Toxic epidermal necrolysis and Stevens-Johnson syndrome are induced by soluble Fas ligand. 54 61
12707034 2003
24
Delayed reactions to drugs show levels of perforin, granzyme B, and Fas-L to be related to disease severity. 61 54
11799383 2002
25
[Erythema multiforme. A heterogeneous pathologic phenotype]. 54 61
10434539 1999
26
Epithelial hyperproliferation and transglutaminase 1 gene expression in Stevens-Johnson syndrome conjunctiva. 61 54
10027391 1999
27
Safety profile of nevirapine, a nonnucleoside reverse transcriptase inhibitor for the treatment of human immunodeficiency virus infection. 54 61
9916603 1998
28
Mucous membrane grafting for lid margin keratinization in Stevens Johnson syndrome - An eye opening saga. 61
33727433 2021
29
Lacrimal Gland Involvement in Severe Dry Eyes after Stevens-Johnson Syndrome. 61
32835747 2021
30
Immunohistochemical Expression of PD-L1 Is Increased in Lesional Epidermal Keratinocytes in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. 61
33055536 2021
31
Mortality and risk factors on admission in toxic epidermal necrolysis: A cohort study of 59 patients. 61
33279401 2021
32
SkinSerious: Disseminated intravascular coagulation complicating Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
33515629 2021
33
A beginner's guide to mucous membrane grafting for lid margin keratinization: Review of indications, surgical technique and clinical outcomes. 61
33727438 2021
34
Cohort study on adverse drug reactions in adults admitted to the medical wards of a tertiary hospital in Nigeria: Prevalence, incidence, risk factors and fatality. 61
32991765 2021
35
Ciprofloxacin-induced cutaneous adverse drug events: a systematic review of descriptive studies. 61
33725760 2021
36
[Ocular involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis]. 61
33725172 2021
37
Corneal ectasia with Stevens-Johnson syndrome. 61
33689647 2021
38
Patients', family members' and healthcare practitioners' experiences of Stevens-Johnson syndrome and toxic epidermal necrolysis: a qualitative descriptive study using emotional touchpoints. 61
32977354 2021
39
Management of Stevens-Johnson syndrome using a mini-scleral contact lens. 61
33107055 2021
40
Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus. 61
33657677 2021
41
Evaluation of drug patch tests in children. 61
33685563 2021
42
Involvement of small-diameter nerve fibres in long-term chronic pain after Stevens-Johnson syndrome or toxic epidermal necrolysis. A neurophysiological assessment. 61
32920914 2021
43
Cohort study of patients with Stevens-Johnson syndrome and toxic epidermal necrolysis in China: evaluation of risk models and new predictor of pulmonary consolidation on computed tomography. 61
33644844 2021
44
Severe Cutaneous Adverse Reactions to Anti-tuberculosis Drugs in Korean Patients. 61
33474859 2021
45
Long-term sequelae from Stevens-Johnson syndrome/toxic epidermal necrolysis in a large retrospective cohort. 61
32289398 2021
46
Acute pancreatic injuries: A complication of Stevens-Johnson syndrome/toxic epidermal necrolysis associated with cytotoxic immunocell activation. 61
32561372 2021
47
Diphtheroids as Corneal Pathogens in Chronic Ocular Surface Disease in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. 61
33758140 2021
48
Direct Injection of 5-Fluorouracil Improves Outcomes in Cicatrizing Conjunctival Disorders Secondary to Systemic Disease. 61
32427724 2021
49
Detecting Lesional Granulysin Levels for Rapid Diagnosis of Cytotoxic T lymphocyte-Mediated Bullous Skin Disorders. 61
33039642 2021
50
Rash and Mucositis Associated With Mycoplasma pneumoniae and Chlamydophila pneumoniae: A Recurrence of MIRM? 61
32275058 2021

Variations for Severe Cutaneous Adverse Reaction

ClinVar genetic disease variations for Severe Cutaneous Adverse Reaction:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HLA-B HLA-B*15:02 Variation risk factor 14909 GRCh37:
GRCh38:
2 HLA-B HLA-B*15:02 Variation risk factor 14909 GRCh37:
GRCh38:
3 HLA-B HLA-B*15:02 Variation risk factor 14909 GRCh37:
GRCh38:
4 HLA-B HLA-B, HLA-B*5801 Variation risk factor 14911 GRCh37:
GRCh38:
5 HLA-B HLA-B, HLA-B*5801 Variation risk factor 14911 GRCh37:
GRCh38:
6 HLA-B HLA-B, HLA-B*5801 Variation risk factor 14911 GRCh37:
GRCh38:
7 HLA-A NM_001242758.1(HLA-A):c.*66A>T SNV risk factor 29755 rs1061235 GRCh37: 6:29913298-29913298
GRCh38: 6:29945521-29945521
8 HLA-A NM_002116.8(HLA-A):c.776del (p.Pro259fs) Deletion not provided 441023 rs1554115495 GRCh37: 6:29912054-29912054
GRCh38: 6:29944277-29944277

Expression for Severe Cutaneous Adverse Reaction

Search GEO for disease gene expression data for Severe Cutaneous Adverse Reaction.

Pathways for Severe Cutaneous Adverse Reaction

Pathways related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
2 12.52 IKZF1 GZMB FASLG FAS CD8A
3
Show member pathways
12.46 PRF1 HLA-B HLA-A GZMB FASLG FAS
4
Show member pathways
12.16 PRF1 GZMB FASLG FAS
5 12.09 HLA-B HLA-A CD8A CD4
6
Show member pathways
12.02 PRF1 HLA-B HLA-A GZMB GNLY FASLG
7
Show member pathways
11.93 CYP3A4 CYP2C9 CYP2C19 CYP2B6
8
Show member pathways
11.93 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
9
Show member pathways
11.91 HLA-A GZMB FASLG CD8A CD4
10
Show member pathways
11.89 PRF1 HLA-A CD8A CD4
11
Show member pathways
11.87 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
12 11.75 IKZF1 GZMB CD8A CD4
13
Show member pathways
11.73 PRF1 FASLG FAS
14
Show member pathways
11.71 CYP3A4 CYP2D6 CYP2B6
15 11.67 IKZF1 CD8A CD4
16
Show member pathways
11.53 CYP3A4 CYP2C9 CYP2C19
17
Show member pathways
11.53 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
18
Show member pathways
11.51 CYP3A4 CYP2D6 CYP2C9
19 11.5 CYP3A4 CYP2C9 CYP2C19 CYP2B6
20
Show member pathways
11.44 PRF1 HLA-A GZMB FASLG CD8A
21
Show member pathways
11.32 GZMB FASLG FAS
22
Show member pathways
11.32 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
23 11.3 CYP3A4 CYP2C9 CYP2B6
24
Show member pathways
11.3 CYP3A4 CYP2D6 CYP2C9
25
Show member pathways
11.24 CYP3A4 CYP2D6 CYP2C9 CYP2C19
26 11.17 CYP3A4 CYP2C9 CYP2C19 CYP2B6
27
Show member pathways
10.94 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
28 10.89 CYP2D6 CYP2C19 CYP2B6
29
Show member pathways
10.74 CYP3A4 CYP2D6 CYP2C9

GO Terms for Severe Cutaneous Adverse Reaction

Cellular components related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.92 VKORC1 HLA-B HLA-A CYP3A4 CYP2D6 CYP2C9
2 intracellular membrane-bounded organelle GO:0043231 9.76 VKORC1 PPIG GZMB CYP3A4 CYP2D6 CYP2C9
3 endoplasmic reticulum membrane GO:0005789 9.61 VKORC1 HLA-B HLA-A CYP3A4 CYP2D6 CYP2C9
4 MHC class I protein complex GO:0042612 9.37 HLA-B HLA-A
5 cytolytic granule GO:0044194 9.26 PRF1 GNLY
6 organelle membrane GO:0031090 9.02 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6

Biological processes related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.04 VKORC1 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
2 immune response GO:0006955 10 HLA-B HLA-A FASLG FAS CD8A CD4
3 steroid metabolic process GO:0008202 9.83 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
4 antigen processing and presentation GO:0019882 9.72 HLA-B HLA-A CD8A
5 xenobiotic metabolic process GO:0006805 9.72 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
6 estrogen metabolic process GO:0008210 9.69 CYP3A4 CYP2D6 CYP2C9
7 long-chain fatty acid biosynthetic process GO:0042759 9.67 CYP3A4 CYP2D6 CYP2C9
8 epoxygenase P450 pathway GO:0019373 9.65 CYP2C9 CYP2C19 CYP2B6
9 oxidative demethylation GO:0070989 9.63 CYP3A4 CYP2D6 CYP2C9
10 detection of bacterium GO:0016045 9.61 HLA-B HLA-A
11 omega-hydroxylase P450 pathway GO:0097267 9.61 CYP2C9 CYP2C19
12 T cell mediated cytotoxicity GO:0001913 9.6 PRF1 HLA-A
13 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.59 HLA-B HLA-A
14 necroptotic signaling pathway GO:0097527 9.58 FASLG FAS
15 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.58 HLA-B HLA-A
16 heterocycle metabolic process GO:0046483 9.58 CYP3A4 CYP2D6 CYP2C19
17 protection from natural killer cell mediated cytotoxicity GO:0042270 9.56 HLA-B HLA-A
18 organic acid metabolic process GO:0006082 9.56 CYP2D6 CYP2C9 CYP2C19 CYP2B6
19 alkaloid catabolic process GO:0009822 9.54 CYP3A4 CYP2D6
20 drug catabolic process GO:0042737 9.54 CYP3A4 CYP2D6 CYP2C9
21 monoterpenoid metabolic process GO:0016098 9.46 CYP3A4 CYP2D6 CYP2C9 CYP2C19
22 exogenous drug catabolic process GO:0042738 9.35 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
23 drug metabolic process GO:0017144 9.1 VKORC1 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6

Molecular functions related to Severe Cutaneous Adverse Reaction according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 10.01 VKORC1 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
2 heme binding GO:0020037 9.77 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
3 iron ion binding GO:0005506 9.72 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
4 monooxygenase activity GO:0004497 9.65 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
5 aromatase activity GO:0070330 9.61 CYP3A4 CYP2C9 CYP2C19
6 arachidonic acid epoxygenase activity GO:0008392 9.58 CYP2C9 CYP2C19 CYP2B6
7 estrogen 2-hydroxylase activity GO:0101021 9.55 CYP3A4 CYP2B6
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.55 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
9 caffeine oxidase activity GO:0034875 9.52 CYP3A4 CYP2C9
10 TAP binding GO:0046977 9.51 HLA-B HLA-A
11 (R)-limonene 6-monooxygenase activity GO:0052741 9.49 CYP2C9 CYP2C19
12 (S)-limonene 7-monooxygenase activity GO:0018676 9.48 CYP2C9 CYP2C19
13 (S)-limonene 6-monooxygenase activity GO:0018675 9.46 CYP2C9 CYP2C19
14 steroid hydroxylase activity GO:0008395 9.35 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6
15 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.02 CYP3A4 CYP2D6 CYP2C9 CYP2C19 CYP2B6

Sources for Severe Cutaneous Adverse Reaction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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