MCID: HYP542
MIFTS: 44

Hypersensitivity Syndrome, Carbamazepine-Induced malady

Genetic diseases, Rare diseases, Skin diseases, Infectious diseases categories

Aliases & Classifications for Hypersensitivity Syndrome, Carbamazepine-Induced

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Sources:
45OMIM, 30LifeMap Discovery®, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 9Disease Ontology, 11DISEASES, 10diseasecard, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Hypersensitivity Syndrome, Carbamazepine-Induced, Aliases & Descriptions:

Name: Hypersensitivity Syndrome, Carbamazepine-Induced 45 30
Stevens-Johnson Syndrome 45 30 9 41 11 43 47 60
Toxic Epidermal Necrolysis 45 41 43 47 60
Bullous Impetigo 41 43 47 60
Dermatostomatitis, Stevens Johnson Type 41 47
Staphylococcal Scalded Skin Syndrome 41 60
Erythema Multiforme Major 41 60
Severe Cutaneous Adverse Reaction Toxic Epidermal Necrolysis Included 45
 
Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility to 10
Mucocutaneous Exfoliative Disease 41
Schwartz-Jampel Syndrome 60
Toxic Epidermolysis 47
Sjs-Ten 47
Ssss 41
Ten 41
Sjs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Infectious diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
stevens-johnson syndrome:
Inheritance: Not applicable; Age of onset: All ages
bullous impetigo:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy
toxic epidermal necrolysis:
Inheritance: Not applicable; Age of onset: All ages


External Ids:

OMIM45 608579
Disease Ontology9 DOID:0050426
MeSH33 D013262
Orphanet47 36426, 36237, 95455
MESH via Orphanet34 D013262, D004816
ICD10 via Orphanet26 L51.1, L01.0, L51.2
UMLS via Orphanet61 C0038325, C0021100, C0014518
ICD1025 L51.2

Summaries for Hypersensitivity Syndrome, Carbamazepine-Induced

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NIH Rare Diseases:41 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. it is an emergency medical condition that usually requires hospitalization. treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications. last updated: 11/22/2010

MalaCards based summary: Hypersensitivity Syndrome, Carbamazepine-Induced, also known as stevens-johnson syndrome, is related to psoriasis and lung cancer, and has symptoms including abnormal blistering of the skin, pustule and skin ulcer. An important gene associated with Hypersensitivity Syndrome, Carbamazepine-Induced is HLA-A (major histocompatibility complex, class I, A), and among its related pathways are Interferon Signaling and HTLV-I infection. The compounds allopurinol and ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung.

Description from OMIM:45 608579

Related Diseases for Hypersensitivity Syndrome, Carbamazepine-Induced

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



Diseases related to hypersensitivity syndrome, carbamazepine-induced

Symptoms for Hypersensitivity Syndrome, Carbamazepine-Induced

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Clinical features from OMIM:

608579

Symptoms:

 47 (show all 46)
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • positive nikolski's sign/achantolysis
  • enanthema/aphtosa/aphta/leukoplakia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • malabsorption/chronic diarrhea/steatorrhea
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • asthenia/fatigue/weakness
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hypersialorrhea
  • polynuclear cells/neutrophils anomalies/neutropenia
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • visual loss/blindness/amblyopia
  • photophobia
  • ectropion/entropion/eyelid eversion
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal perforation
  • acute hepatic failure
  • abnormal hepatic enzymes/transaminases
  • pancreatitis
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • repeat respiratory infections
  • myocardium anomalies/myocarditis
  • angor pectoris/myocardial infarction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • renal failure
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • phimosis/preputial adhesions/paraphimosis
  • dyspareunia/coital pain/vaginal dryness
  • anaemia
  • thrombocytopenia/thrombopenia
  • thirst
  • sepsis severe/septicemia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • pustula/pustulosis
  • anomalies of the lymphatic system
  • renal glomerular defect/glomerulopathy

HPO human phenotypes related to Hypersensitivity Syndrome, Carbamazepine-Induced:

(show all 37)
id Description Frequency HPO Source Accession
1 abnormal blistering of the skin hallmark (90%) HP:0008066
2 pustule hallmark (90%) HP:0200039
3 skin ulcer hallmark (90%) HP:0200042
4 hypermelanotic macule hallmark (90%) HP:0001034
5 weight loss hallmark (90%) HP:0001824
6 nausea and vomiting hallmark (90%) HP:0002017
7 malabsorption hallmark (90%) HP:0002024
8 abnormality of temperature regulation hallmark (90%) HP:0004370
9 acantholysis hallmark (90%) HP:0100792
10 abnormality of neutrophils typical (50%) HP:0001874
11 excessive salivation typical (50%) HP:0003781
12 feeding difficulties in infancy typical (50%) HP:0008872
13 abnormality of the lymphatic system occasional (7.5%) HP:0100763
14 sepsis occasional (7.5%) HP:0100806
15 glomerulopathy occasional (7.5%) HP:0100820
16 renal insufficiency occasional (7.5%) HP:0000083
17 abnormality of the eyelid occasional (7.5%) HP:0000492
18 visual impairment occasional (7.5%) HP:0000505
19 photophobia occasional (7.5%) HP:0000613
20 abnormality of the urethra occasional (7.5%) HP:0000795
21 abnormality of the myocardium occasional (7.5%) HP:0001637
22 sudden cardiac death occasional (7.5%) HP:0001645
23 coronary artery disease occasional (7.5%) HP:0001677
24 pancreatitis occasional (7.5%) HP:0001733
25 thrombocytopenia occasional (7.5%) HP:0001873
26 anemia occasional (7.5%) HP:0001903
27 abdominal pain occasional (7.5%) HP:0002027
28 restrictive lung disease occasional (7.5%) HP:0002091
29 respiratory insufficiency occasional (7.5%) HP:0002093
30 abnormality of the pleura occasional (7.5%) HP:0002103
31 recurrent respiratory infections occasional (7.5%) HP:0002205
32 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
33 elevated hepatic transaminases occasional (7.5%) HP:0002910
34 acute hepatic failure occasional (7.5%) HP:0006554
35 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
36 abnormality of the preputium occasional (7.5%) HP:0100587
37 corneal erosion occasional (7.5%) HP:0200020

Drugs & Therapeutics for Hypersensitivity Syndrome, Carbamazepine-Induced

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Drug clinical trials:

Search ClinicalTrials for Hypersensitivity Syndrome, Carbamazepine-Induced

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, PMID: 23055668

Genetic Tests for Hypersensitivity Syndrome, Carbamazepine-Induced

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Anatomical Context for Hypersensitivity Syndrome, Carbamazepine-Induced

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

31
Skin, Eye, Lung, Neutrophil

Animal Models for Hypersensitivity Syndrome, Carbamazepine-Induced or affiliated genes

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Publications for Hypersensitivity Syndrome, Carbamazepine-Induced

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Variations for Hypersensitivity Syndrome, Carbamazepine-Induced

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

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

Expression for genes affiliated with Hypersensitivity Syndrome, Carbamazepine-Induced

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

Pathways for genes affiliated with Hypersensitivity Syndrome, Carbamazepine-Induced

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1HLA-A, HLA-B
29.1HLA-A, HLA-B
3
Show member pathways
9.1HLA-A, HLA-B
4
Show member pathways
9.1HLA-B, HLA-A
5
Show member pathways
9.1HLA-A, HLA-B
6
Show member pathways
9.1HLA-A, HLA-B
7
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
9.1HLA-A, HLA-B
89.1HLA-B, HLA-A
99.1HLA-A, HLA-B
109.1HLA-A, HLA-B
11
Show member pathways
9.1HLA-A, HLA-B
129.1HLA-A, HLA-B
139.1HLA-B, HLA-A
149.1HLA-A, HLA-B
15
Show member pathways
Immune response CD16 signaling in NK cells58
9.1HLA-A, HLA-B
16
Show member pathways
9.1HLA-A, HLA-B

Compounds for genes affiliated with Hypersensitivity Syndrome, Carbamazepine-Induced

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

idCompoundScoreTop Affiliating Genes
1allopurinol43 49 1211.3HLA-A, HLA-B
2ursodeoxycholic acid43 24 1211.3HLA-A, HLA-B
3carbamazepine43 49 1211.2HLA-A, HLA-B
45-aza-2deoxycytidine439.2HLA-A, HLA-B
5tacrolimus43 49 1211.1HLA-B, HLA-A
6oligonucleotide439.1HLA-A, HLA-B
7cyclosporin a43 28 5911.0HLA-A, HLA-B
8adenylate438.8HLA-A, HLA-B

GO Terms for genes affiliated with Hypersensitivity Syndrome, Carbamazepine-Induced

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

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:00426129.3HLA-A, HLA-B
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.2HLA-A, HLA-B
3ER to Golgi transport vesicle membraneGO:00125079.2HLA-A, HLA-B
4phagocytic vesicle membraneGO:00306709.1HLA-B, HLA-A
5Golgi membraneGO:00001399.1HLA-A, HLA-B
6early endosome membraneGO:00319019.0HLA-A, HLA-B
7cell surfaceGO:00099868.8HLA-A, HLA-B

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:00024869.4HLA-A, HLA-B
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:00024809.4HLA-A, HLA-B
3detection of bacteriumGO:00160459.4HLA-A, HLA-B
4positive regulation of T cell mediated cytotoxicityGO:00019169.4HLA-B, HLA-A
5interferon-gamma-mediated signaling pathwayGO:00603339.3HLA-A, HLA-B
6type I interferon signaling pathwayGO:00603379.3HLA-A, HLA-B
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.3HLA-B, HLA-A
8antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.2HLA-A, HLA-B
9regulation of immune responseGO:00507769.2HLA-A, HLA-B
10antigen processing and presentation of peptide antigen via MHC class IGO:00024749.1HLA-B, HLA-A
11viral processGO:00160329.1HLA-A, HLA-B
12cytokine-mediated signaling pathwayGO:00192219.0HLA-A, HLA-B
13immune responseGO:00069558.8HLA-A, HLA-B

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.1HLA-A, HLA-B
2TAP bindingGO:00469779.0HLA-A, HLA-B
3peptide antigen bindingGO:00426058.8HLA-A, HLA-B

Products for genes affiliated with Hypersensitivity Syndrome, Carbamazepine-Induced

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  • Kits and Assays

Sources for Hypersensitivity Syndrome, Carbamazepine-Induced

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet