SJS
MCID: HYP542
MIFTS: 52

Hypersensitivity Syndrome, Carbamazepine-Induced (SJS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypersensitivity Syndrome, Carbamazepine-Induced

Aliases & Descriptions for Hypersensitivity Syndrome, Carbamazepine-Induced:

Name: Hypersensitivity Syndrome, Carbamazepine-Induced 54 38
Stevens-Johnson Syndrome 54 38 12 50 56 66 52 42 14 69
Toxic Epidermal Necrolysis 54 50 56 66 52 69
Erythema Multiforme Major 50 69
Toxic Epidermolysis 50 56
Sjs-Ten 50 56
Sjs 50 66
Severe Cutaneous Adverse Reaction, Susceptibility to Toxic Epidermal Necrolysis, Susceptibility to, Included 54
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility to 13
Dermatostomatitis, Stevens Johnson Type 56
Dermatostomatitis Stevens Johnson Type 66
Ten 66

Characteristics:

Orphanet epidemiological data:

56
stevens-johnson syndrome
Inheritance: Not applicable; Age of onset: All ages;
toxic epidermal necrolysis
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 608579
Disease Ontology 12 DOID:0050426
ICD10 33 L51.1 L51.2
ICD9CM 35 695.13 695.15
MeSH 42 D013262
ICD10 via Orphanet 34 L51.1 L51.2
MESH via Orphanet 43 D013262 D004816
UMLS via Orphanet 70 C0038325 C0014518

Summaries for Hypersensitivity Syndrome, Carbamazepine-Induced

NIH Rare Diseases : 50 stevens-johnson syndrome (sjs), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. this disorder affects the skin, mucous membranes and eyes. stevens-johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. having a gene called hla-b 1502, increases risk of having stevens-johnson syndrome. it is an emergency medical condition that usually requires hospitalization. treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids). last updated: 7/8/2015

MalaCards based summary : Hypersensitivity Syndrome, Carbamazepine-Induced, also known as stevens-johnson syndrome, is related to hepatitis and stevens-johnson syndrome/toxic epidermal necrolysis, and has symptoms including fatigue, dyspnea and fever. An important gene associated with Hypersensitivity Syndrome, Carbamazepine-Induced is HLA-B (Major Histocompatibility Complex, Class I, B), and among its related pathways/superpathways are Influenza A and Immune response Role of DAP12 receptors in NK cells. The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and integument

UniProtKB/Swiss-Prot : 66 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.

Description from OMIM: 608579

Related Diseases for Hypersensitivity Syndrome, Carbamazepine-Induced

Diseases related to Hypersensitivity Syndrome, Carbamazepine-Induced via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
id Related Disease Score Top Affiliating Genes
1 hepatitis 29.9 HLA-A HLA-B HLA-C
2 stevens-johnson syndrome/toxic epidermal necrolysis 12.8
3 schwartz-jampel syndrome, type 1 11.8
4 erythema multiforme 11.5
5 ritter's disease 11.5
6 burns 10.4
7 lupus erythematosus 10.4
8 acute generalized exanthematous pustulosis 10.4
9 solid pseudopapillary carcinoma of pancreas 10.3 HLA-A HLA-B
10 sacral nerve root cysts 10.3 HLA-A HLA-B
11 myopathy, congenital nonprogressive, with moebius sequence and robin sequence 10.3 HLA-A HLA-B
12 skeletal muscle cancer 10.3 FAS FASLG GZMB
13 cutaneous lupus erythematosus 10.3
14 macrogyria, pseudobulbar palsy and mental retardation 10.2 FAS FASLG GZMB
15 mixed cell type cancer 10.2 FAS FASLG GZMB
16 periodontosis 10.2 FASLG GZMB HLA-A
17 pneumoconiosis due to talc 10.2 CD4 FAS HLA-A
18 epididymo-orchitis 10.2 HLA-A HLA-B HLA-C
19 learning disability 10.2 HLA-A HLA-B HLA-C
20 histiocytic and dendritic cell cancer 10.2 FASLG GZMB
21 colorectal cancer, hereditary nonpolyposis, type 6 10.2 HLA-A HLA-B HLA-C
22 aseptic meningitis 10.1 CD8A HLA-A HLA-B
23 bickerstaff brainstem encephalitis 10.1 HLA-A HLA-B HLA-C
24 orbital osteomyelitis 10.1 HLA-A HLA-B HLA-C
25 systemic lupus erythematosus 10.1
26 folinic acid-responsive seizures 10.1 HLA-A HLA-B HLA-C
27 tibial adamantinoma 10.1 CD4 GZMB
28 alcoholic pancreatitis 10.1 CD4 CD8A
29 orbital disease 10.1 CD4 CD8A
30 dermatitis 10.1
31 midline interhemispheric variant of holoprosencephaly 10.1 FAS FASLG
32 colloid adenoma 10.1 CD4 CD8A
33 retinal microaneurysm 10.0 CD4 CD8A
34 plasmacytic leukemia 10.0 CD4 CD8A HSPG2
35 scrotum melanoma 10.0 CD4 CD8A
36 abducens nerve disease 10.0 CD4 CD8A HSPG2
37 paralytic poliomyelitis 10.0 CD8A TLR3
38 anaerobic meningitis 10.0 EPHX1 HLA-A HLA-B HLA-C
39 pneumoconiosis 10.0 CD4 CD8A HSPG2
40 epidermolysis bullosa 10.0
41 psoriasis 10.0
42 lung cancer 10.0
43 contact dermatitis 10.0
44 pemphigus 10.0
45 multiple myeloma 10.0
46 cervix melanoma 10.0 CD4 CD8A
47 hyperparathyroidism, neonatal 10.0 CD4 FAS FASLG HLA-A HLA-B
48 newcastle disease 10.0 CD4 CD8A FAS
49 vestibule of mouth cancer 10.0 CD4 CD8A TLR3
50 squamous cell papilloma of skin 10.0 CD4 CD8A HLA-A IKZF1

Graphical network of the top 20 diseases related to Hypersensitivity Syndrome, Carbamazepine-Induced:



Diseases related to Hypersensitivity Syndrome, Carbamazepine-Induced

Symptoms & Phenotypes for Hypersensitivity Syndrome, Carbamazepine-Induced

Clinical features from OMIM:

608579

Human phenotypes related to Hypersensitivity Syndrome, Carbamazepine-Induced:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 dyspnea 56 32 Occasional (29-5%) HP:0002094
3 fever 56 32 Very frequent (99-80%) HP:0001945
4 photophobia 56 32 Occasional (29-5%) HP:0000613
5 abdominal pain 56 32 Occasional (29-5%) HP:0002027
6 diarrhea 56 32 Very frequent (99-80%) HP:0002014
7 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
8 dysuria 56 32 Occasional (29-5%) HP:0100518
9 macule 56 32 Very frequent (99-80%) HP:0012733
10 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
11 dysphagia 56 32 Frequent (79-30%) HP:0002015
12 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
13 visual impairment 56 32 Occasional (29-5%) HP:0000505
14 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
15 anemia 56 32 Occasional (29-5%) HP:0001903
16 myocardial infarction 56 32 Occasional (29-5%) HP:0001658
17 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
18 weight loss 56 32 Very frequent (99-80%) HP:0001824
19 corneal erosion 56 32 Occasional (29-5%) HP:0200020
20 abnormality of the pleura 56 32 Occasional (29-5%) HP:0002103
21 elevated hepatic transaminases 56 32 Occasional (29-5%) HP:0002910
22 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
23 pancreatitis 56 32 Occasional (29-5%) HP:0001733
24 abnormality of the myocardium 56 32 Occasional (29-5%) HP:0001637
25 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
26 erythema 56 32 Very frequent (99-80%) HP:0010783
27 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
28 sepsis 56 32 Occasional (29-5%) HP:0100806
29 cough 56 32 Occasional (29-5%) HP:0012735
30 acute hepatic failure 56 32 Occasional (29-5%) HP:0006554
31 abnormality of neutrophils 56 32 Frequent (79-30%) HP:0001874
32 abnormality of the urethra 56 32 Occasional (29-5%) HP:0000795
33 dyspareunia 56 32 Occasional (29-5%) HP:0030016
34 excessive salivation 56 32 Frequent (79-30%) HP:0003781
35 acantholysis 56 32 Very frequent (99-80%) HP:0100792
36 esophageal stricture 56 32 Occasional (29-5%) HP:0002043
37 hypokalemic metabolic alkalosis 56 32 Occasional (29-5%) HP:0001960
38 entropion 56 32 Occasional (29-5%) HP:0000621
39 restrictive lung disease 56 Occasional (29-5%)
40 restrictive ventilatory defect 32 HP:0002091

GenomeRNAi Phenotypes related to Hypersensitivity Syndrome, Carbamazepine-Induced according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.34 HLA-C HLA-A HLA-B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.34 HLA-A HLA-B HLA-C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.34 HLA-C HLA-A HLA-B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.34 HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.34 CD4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.34 HLA-C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.34 HLA-C HLA-A HLA-B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.34 HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.34 HLA-A HLA-B HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.34 HLA-A HLA-B HLA-C CD4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.34 HLA-C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.34 HLA-A HLA-B HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.34 CD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.34 HLA-C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.34 CD4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.34 HLA-C HLA-A HLA-B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.34 HLA-C HLA-A HLA-B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.34 HLA-C

MGI Mouse Phenotypes related to Hypersensitivity Syndrome, Carbamazepine-Induced:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 CD4 CD8A FAS FASLG HSPG2 IKZF1

Drugs & Therapeutics for Hypersensitivity Syndrome, Carbamazepine-Induced

Drugs for Hypersensitivity Syndrome, Carbamazepine-Induced (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 4,Phase 1,Phase 2 299-42-3 9294
2
Pseudoephedrine Approved Phase 4,Phase 1,Phase 2 90-82-4 7028
3
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3 79217-60-0, 59865-13-3 5284373 6435893
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3 22916-47-8 4189
5
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
6
Sulfadoxine Approved Phase 4 2447-57-6 17134
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
8
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
9 Autonomic Agents Phase 4,Phase 1,Phase 2
10 Nasal Decongestants Phase 4,Phase 1,Phase 2
11 Ophthalmic Solutions Phase 4,Phase 1,Phase 2
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
14 Respiratory System Agents Phase 4,Phase 1,Phase 2
15 Tetrahydrozoline Phase 4,Phase 1,Phase 2
16 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2
17 Antifungal Agents Phase 4,Phase 3
18 Anti-Infective Agents Phase 4,Phase 3
19 Antirheumatic Agents Phase 4,Phase 3,Phase 1,Phase 2
20 Calcineurin Inhibitors Phase 4,Phase 3
21 Dermatologic Agents Phase 4,Phase 3,Phase 1,Phase 2
22 Immunosuppressive Agents Phase 4,Phase 3
23 Antimalarials Phase 4
24 Antiparasitic Agents Phase 4
25 Antiprotozoal Agents Phase 4
26 Fanasil, pyrimethamine drug combination Phase 4
27 Folic Acid Antagonists Phase 4
28 Renal Agents Phase 4
29 Vitamin B Complex Phase 4,Phase 1,Phase 2
30 Folate Nutraceutical Phase 4,Phase 1,Phase 2
31 Vitamin B9 Nutraceutical Phase 4,Phase 1,Phase 2
32
Etanercept Approved, Investigational Phase 3 185243-69-0
33
Lamotrigine Approved, Investigational Phase 3,Phase 2 84057-84-1 3878
34
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
35
Coal tar Approved Phase 3 8007-45-2
36
Gabapentin Approved, Investigational Phase 2, Phase 3 60142-96-3 3446
37 Antibodies Phase 3
38 gamma-Globulins Phase 3
39 Immunoglobulins Phase 3
40 Immunoglobulins, Intravenous Phase 3
41 Rho(D) Immune Globulin Phase 3
42 Anticonvulsants Phase 3,Phase 2
43 calcium channel blockers Phase 3,Phase 2
44 Calcium, Dietary Phase 3,Phase 2
45 Diuretics, Potassium Sparing Phase 3,Phase 2
46 Excitatory Amino Acid Antagonists Phase 3,Phase 2
47 Excitatory Amino Acids Phase 3,Phase 2
48 Neurotransmitter Agents Phase 3,Phase 2
49 Sodium Channel Blockers Phase 3,Phase 2
50 Analgesics Phase 3,Phase 2

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
1 Efficacy of 0.05% Cyclosporin Eye Drop in Stevens Johnson Syndrome Patient With Chronic Dry Eye Completed NCT01488396 Phase 4
2 IPT of Malaria With SP in Different Zones of Drug Resistance in Rwanda Completed NCT00372632 Phase 4
3 G-CSF in the Treatment of Toxic Epidermal Necrolysis Recruiting NCT02739295 Phase 4
4 Phase III Clinical Trial of NPB-01 in Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids. Completed NCT01696500 Phase 3
5 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Transplantation Completed NCT00346450 Phase 3
6 Clinical Evaluation of BW430C in Epilepsy Completed NCT00395694 Phase 3
7 Aloe Vera on Irradiated Breast Tissue Completed NCT01824134 Phase 3
8 Cyclosporine and Etanercept in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3
9 Lamictal in the Treatment of Post-Herpetic Neuralgia Terminated NCT00295776 Phase 2, Phase 3
10 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
11 Utilization of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Healing Completed NCT02746848 Phase 1, Phase 2
12 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
13 Use of Cross-linked Donor Corneas as Carriers for the Boston Keratoprosthesis Recruiting NCT01582880 Phase 1, Phase 2
14 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732 Phase 1, Phase 2
15 Topical Clobetasol for the Treatment of Toxic Epidermal Necrolysis Not yet recruiting NCT02319616 Phase 1, Phase 2
16 Study to Evaluate the Use of Palifermin to Treat Toxic Epidermal Necrolysis Terminated NCT02037347 Phase 1, Phase 2
17 Infliximab to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis (SJS/TENS) Withdrawn NCT01256489 Phase 1, Phase 2
18 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2
19 Study of a Potential New Treatment for Patients With Toxic Epidermal Necrolysis (TEN) Withdrawn NCT00372723 Phase 2
20 Topical Infliximab for Sterile Corneal Melt Not yet recruiting NCT02987686 Phase 1
21 Corneal Epitheliotropic Factors in Autologous Serum Eye Drops in Nonautoimmune and Stevens-Johnson Syndrome With Dry Eye Unknown status NCT01122303
22 Evaluation of TNF-α Blockade Effect in Patients With Severe Cutaneous Adverse Drug Reactions Unknown status NCT01276314
23 Stevens-Johnson Syndrome Antimicrobial Completed NCT00844038
24 Salivary Gland Transplantation in the Treatment of Dry Eye in Patients With Stevens-Johnson Syndrome. Completed NCT01178242
25 Risk of Hospitalization for Severe Hypersensitivity (Including Severe Skin Reactions) in Patients With Type 2 Diabetes Exposed to Oral Antidiabetic Treatments Completed NCT01086319
26 HLA-B*5801 Screening to Prevent Allopurinol-induced Severe Cutaneous Adverse Reaction Recruiting NCT03046914
27 Drug Patch Tests in Patients With Severe Cutaneous Adverse Reaction to Drugs (SCARs) Recruiting NCT03176342
28 Severe Cutaneous Adverse Reactions in Thailand Recruiting NCT02574988
29 An Exploratory Study of Genetic and Clinical Factors for Serious Skin Reactions Among Users of Eslicarbazepine Acetate Recruiting NCT02520557
30 Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study Recruiting NCT02795143
31 Bacteremia Antibiotic Length Actually Needed for Clinical Effectiveness: A Pilot RCT Recruiting NCT02261506
32 Pattern of Use and Safety/Effectiveness of Nivolumab in Routine Oncology Practice Recruiting NCT02847728
33 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176
34 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071
35 Serum Interleukin -21 Level in Patients With Severe Adverse Cutaneous Drug Reaction. Not yet recruiting NCT03166241

Search NIH Clinical Center for Hypersensitivity Syndrome, Carbamazepine-Induced

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Hypersensitivity Syndrome, Carbamazepine-Induced:
Cultivated corneal epithelial stem cells for treatment of ocular surface damage
Embryonic/Adult Cultured Cells Related to Hypersensitivity Syndrome, Carbamazepine-Induced:
Limbal corneal epithelial stem cells PMIDs: 23055668

Cochrane evidence based reviews: stevens-johnson syndrome

Genetic Tests for Hypersensitivity Syndrome, Carbamazepine-Induced

Anatomical Context for Hypersensitivity Syndrome, Carbamazepine-Induced

MalaCards organs/tissues related to Hypersensitivity Syndrome, Carbamazepine-Induced:

39
Skin, Eye, Lung, Neutrophil

Publications for Hypersensitivity Syndrome, Carbamazepine-Induced

Variations for Hypersensitivity Syndrome, Carbamazepine-Induced

ClinVar genetic disease variations for Hypersensitivity Syndrome, Carbamazepine-Induced:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HLA-B HLA-B*15: 02 undetermined variant risk factor
2 HLA-B HLA-B, HLA-B*5801 undetermined variant risk factor

Expression for Hypersensitivity Syndrome, Carbamazepine-Induced

Search GEO for disease gene expression data for Hypersensitivity Syndrome, Carbamazepine-Induced.

Pathways for Hypersensitivity Syndrome, Carbamazepine-Induced

Pathways related to Hypersensitivity Syndrome, Carbamazepine-Induced according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 FAS FASLG HLA-A HLA-B HLA-C TLR3
2
Show member pathways
12.28 FAS FASLG GZMB HLA-A HLA-B HLA-C
3
Show member pathways
12.27 CD8A HLA-A HLA-B HLA-C
4
Show member pathways
12.02 CD4 CD8A FAS FASLG GNLY GZMB
5 12 CD8A FAS FASLG GZMB IKZF1 NFKBIZ
6 11.91 CD8A HLA-A HLA-B HLA-C
7 11.82 CD4 CD8A HLA-A HLA-B HLA-C
8
Show member pathways
11.76 CD4 CD8A HLA-A
9
Show member pathways
11.72 CD4 GZMB TLR3
10 11.61 CD4 CD8A GZMB IKZF1
11
Show member pathways
11.61 CD4 CD8A FASLG GZMB HLA-A
12 11.57 CD4 CD8A IKZF1
13
Show member pathways
11.45 CD8A FASLG GZMB HLA-A
14
Show member pathways
11.27 FAS FASLG GZMB
15 11.01 HLA-A HLA-B HLA-C

GO Terms for Hypersensitivity Syndrome, Carbamazepine-Induced

Cellular components related to Hypersensitivity Syndrome, Carbamazepine-Induced according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.86 CD4 CD8A FAS FASLG HLA-A HLA-B
2 external side of plasma membrane GO:0009897 9.73 CD4 CD8A FAS FASLG
3 phagocytic vesicle membrane GO:0030670 9.58 HLA-A HLA-B HLA-C
4 recycling endosome membrane GO:0055038 9.54 HLA-A HLA-B HLA-C
5 ER to Golgi transport vesicle membrane GO:0012507 9.5 HLA-A HLA-B HLA-C
6 T cell receptor complex GO:0042101 9.46 CD4 CD8A
7 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.33 HLA-A HLA-B HLA-C
8 cell surface GO:0009986 9.23 CD4 CD8A FAS FASLG HLA-A HLA-B
9 MHC class I protein complex GO:0042612 9.13 HLA-A HLA-B HLA-C

Biological processes related to Hypersensitivity Syndrome, Carbamazepine-Induced according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.8 CD4 CD8A HLA-A HLA-B HLA-C TLR3
2 regulation of immune response GO:0050776 9.78 CD8A HLA-A HLA-B HLA-C
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.71 HLA-A HLA-B HLA-C
4 apoptotic signaling pathway GO:0097190 9.7 FAS FASLG TLR3
5 immune response GO:0006955 9.7 CD4 CD8A FAS FASLG HLA-A HLA-B
6 interferon-gamma-mediated signaling pathway GO:0060333 9.69 HLA-A HLA-B HLA-C
7 type I interferon signaling pathway GO:0060337 9.67 HLA-A HLA-B HLA-C
8 extrinsic apoptotic signaling pathway GO:0097191 9.61 FAS FASLG TLR3
9 positive regulation of calcium-mediated signaling GO:0050850 9.58 CD4 CD8A
10 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.57 FAS FASLG
11 necroptotic process GO:0070266 9.56 FASLG TLR3
12 antigen processing and presentation GO:0019882 9.56 CD8A HLA-A HLA-B HLA-C
13 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.55 FAS FASLG
14 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.54 HLA-A HLA-B HLA-C
15 protection from natural killer cell mediated cytotoxicity GO:0042270 9.46 HLA-A HLA-B
16 inflammatory cell apoptotic process GO:0006925 9.4 FAS FASLG
17 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.13 HLA-A HLA-B HLA-C
18 necroptotic signaling pathway GO:0097527 8.8 FAS FASLG TLR3

Molecular functions related to Hypersensitivity Syndrome, Carbamazepine-Induced according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.8 HLA-A HLA-B HLA-C

Sources for Hypersensitivity Syndrome, Carbamazepine-Induced

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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