Aliases & Classifications for Bullous Skin Disease

MalaCards integrated aliases for Bullous Skin Disease:

Name: Bullous Skin Disease 12 15
Skin Diseases, Bullous 73
Skin Diseases Bullous 55

Classifications:



External Ids:

Disease Ontology 12 DOID:8502
ICD9CM 35 694.8

Summaries for Bullous Skin Disease

Disease Ontology : 12 An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located in skin. The disease is associated with the amount of gluten ingested.

MalaCards based summary : Bullous Skin Disease, also known as skin diseases, bullous, is related to cicatricial pemphigoid and skin disease, and has symptoms including pruritus and pruritus and related conditions. An important gene associated with Bullous Skin Disease is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Developmental Biology and Cell junction organization. The drugs leucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and testes, and related phenotypes are digestive/alimentary and integument

Related Diseases for Bullous Skin Disease

Diseases related to Bullous Skin Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 31.7 COL17A1 DST LAMA3
2 skin disease 29.2 ATP2A2 ATP2C1 COL17A1 DSC3 DSG1 DSG3
3 bullous pemphigoid 28.9 COL17A1 DSG1 DSG3 DSP DST EVPL
4 pemphigus 28.7 ATP2C1 COL17A1 DSC3 DSG1 DSG3 DSP
5 lichen planus pemphigoides 10.3 COL17A1 DST
6 linear iga disease 10.2 COL17A1 DST
7 neurotic excoriation 10.2 COL17A1 DST
8 herpes gestationis 10.2 COL17A1 DST
9 bullous impetigo 10.2 DSG1 DSG3
10 epidermolysis bullosa simplex with muscular dystrophy 10.2 COL17A1 DST
11 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSG1 DSP
12 pemphigus erythematosus 10.2 DSG3 DSP
13 lichen disease 10.2 COL17A1 DSG1 DST
14 striate palmoplantar keratoderma 10.2 DSG1 DSP
15 pemphigoid gestationis 10.2 COL17A1 DST IL5
16 herpetiform pemphigus 10.2 DSG1 DSG3 DST
17 lichen planus 10.2 COL17A1 DSG3 DST
18 vesiculobullous skin disease 10.1 COL17A1 DST LAMA3
19 epidermolysis bullosa acquisita 10.1 COL17A1 DST LAMA3
20 epidermolysis bullosa, junctional, non-herlitz type 10.1 COL17A1 DST LAMA3
21 junctional epidermolysis bullosa 10.1 COL17A1 DST LAMA3
22 epithelial basement membrane dystrophy 10.1 COL17A1 IQGAP1
23 esophagitis, eosinophilic, 1 10.1 DSG1 IL5
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSC2 DSP
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSC2 DSP
26 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSC2 DSP
27 palmoplantar keratoderma and woolly hair 10.1 DSC2 DSP
28 naxos disease 10.1 DSC2 DSP
29 ectodermal dysplasia/skin fragility syndrome 10.1 DSC2 DSP
30 transverse colon cancer 10.1 DSC2 DSC3
31 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSC2 DSG1 DSP
32 norwegian scabies 10.0 ATP2A2 IL5
33 follicular dendritic cell sarcoma 10.0 DSP EVPL PPL
34 ecthyma 10.0 COL17A1 DST
35 pemphigus vegetans 10.0 DSC3 DSG1 PPL
36 respiratory syncytial virus infectious disease 10.0 CCL5 IL5
37 epidermolysis bullosa 10.0 COL17A1 DSP DST LAMA3
38 chronic conjunctivitis 10.0 CCL5 IL5
39 status asthmaticus 10.0 CCL5 IL5
40 keratosis 10.0 ATP2A2 DSG1 DSP
41 chronic eosinophilic pneumonia 10.0 CCL5 IL5
42 benign chronic pemphigus 10.0 ATP2A2 ATP2C1 DSP
43 darier-white disease 10.0 ATP2A2 ATP2C1 DSP
44 kimura disease 9.9 CCL5 IL5
45 vernal keratoconjunctivitis 9.9 CCL5 IL5
46 folliculitis 9.9 CCL5 IL5
47 radiculopathy 9.9 CCL5 IL5
48 pemphigus foliaceus 9.9 DSG1 DSG3 DST EVPL PPL
49 dowling-degos disease 9.8 ATP2A2 DSC2 DSC3
50 inclusion conjunctivitis 9.8 CCL5 IL5

Comorbidity relations with Bullous Skin Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Bullous Skin Disease:



Diseases related to Bullous Skin Disease

Symptoms & Phenotypes for Bullous Skin Disease

UMLS symptoms related to Bullous Skin Disease:


pruritus, pruritus and related conditions

MGI Mouse Phenotypes related to Bullous Skin Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 ATP2A2 DSG3 DSP IL5 IQGAP1 LAMA3
2 integument MP:0010771 9.23 ATP2A2 ATP2C1 DSC3 DSG1 DSG3 DSP

Drugs & Therapeutics for Bullous Skin Disease

Drugs for Bullous Skin Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4,Phase 1 58-05-9 6006 143
2
Dapsone Approved, Investigational Phase 4,Phase 1 80-08-0 2955
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
4 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Early Phase 1
5 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Early Phase 1
6 Antiprotozoal Agents Phase 4,Phase 1
7 Vitamin B9 Phase 4,Phase 1
8 Vitamin B Complex Phase 4,Phase 1
9 Antimalarials Phase 4,Phase 1
10 Folic Acid Antagonists Phase 4,Phase 1
11 Antiparasitic Agents Phase 4,Phase 1
12 Folate Phase 4,Phase 1
13
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
14
Ezetimibe Approved Phase 3 163222-33-1 150311
15
Mycophenolic acid Approved Phase 3 24280-93-1 446541
16 Calcium, Dietary Phase 3
17 Atorvastatin Calcium Phase 3 134523-03-8
18 Anticholesteremic Agents Phase 3
19 Lipid Regulating Agents Phase 3
20 Antimetabolites Phase 3
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
22 Hypolipidemic Agents Phase 3
23 Rosuvastatin Calcium Phase 3 147098-20-2
24 Antitubercular Agents Phase 3
25 Antibiotics, Antitubercular Phase 3,Early Phase 1
26
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
27 Antibodies Phase 1, Phase 2,Phase 2
28 Immunoglobulins Phase 1, Phase 2,Phase 2
29 Immunologic Factors Phase 1, Phase 2,Phase 2,Early Phase 1
30 Immunoglobulins, Intravenous Phase 1, Phase 2
31 gamma-Globulins Phase 1, Phase 2
32 Rho(D) Immune Globulin Phase 1, Phase 2
33 Vaccines Phase 2,Phase 1
34 Pharmaceutical Solutions Phase 1, Phase 2
35 Protein Kinase Inhibitors Phase 2
36
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
37
Cyclophosphamide Approved, Investigational Phase 1 6055-19-2, 50-18-0 2907
38
Azathioprine Approved 446-86-6 2265
39
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 46835353 6436030 5284616
40
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
41
Everolimus Approved Early Phase 1 159351-69-6 6442177
42
Prednisone Approved, Vet_approved Early Phase 1 53-03-2 5865
43 Antimetabolites, Antineoplastic
44 Immunosuppressive Agents ,Early Phase 1
45 Antirheumatic Agents
46 Immunoglobulin A
47 HIV Protease Inhibitors
48 Dipeptidyl-Peptidase IV Inhibitors
49
protease inhibitors
50 Hypoglycemic Agents

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Clinical Utility Of Genetic Screening For HLA-B*1301, On Susceptibility To Dapsone Hypersensitivity Syndrome Recruiting NCT02550080 Phase 4 Dapsone
2 Minocycline Therapy for Lung Scarring in Patients With Idiopathic Pulmonary Fibrosis - a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
3 A Clinical Trial to Assess the Efficacy and Safety of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-383) Completed NCT02550288 Phase 3 Ezetimibe 10 mg;Atorvastatin 10 mg;Placebo for Ezetimibe 10 mg tablet;Placebo for Atorvastatin 10 mg capsule
4 A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384) Completed NCT02460159 Phase 3 EZ 10 mg/Atorva 20 mg FDC;EZ 10 mg/Atorva 10 mg FDC
5 A Study of the Efficacy and Safety of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-832) Completed NCT02741245 Phase 3 Ezetimibe 10 mg;Rosuvastatin 2.5 mg;Placebo for Ezetimibe;Placebo for Rosuvastatin
6 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Recruiting NCT02993133 Phase 3 Cellcept® in autoimmune bullous dermatoses
7 Clinical Evaluation of Anti-CHIKV Hyperimmune Intravenous Immunoglobulins Unknown status NCT02230163 Phase 1, Phase 2
8 Safety & Immunogenicity of GlaxoSmithKline Biologicals' Herpes Zoster Vaccine 1437173A Completed NCT00920218 Phase 2
9 Immunogenicity and Safety Study of GSK Biologicals' Herpes Zoster Vaccine With Various Formulations in Adults >= 50 Years Completed NCT00802464 Phase 1, Phase 2
10 Evaluate Safety & Immunogenicity of a Pandemic Influenza Vaccine (GSK1562902A) in Children Completed NCT00502593 Phase 2
11 A Study of Management of Tarceva - Induced Rash in Patients With Non-Small Cell Lung Cancer. Completed NCT00531934 Phase 2 Doxycline;erlotinib [Tarceva]
12 Pharmacokinetics and Distribution of Dapsone in Leucocytes After Single-dose and Multiple-dose Administration Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
13 Hematopoietic Stem Cell Support in Patients With Autoimmune Bullous Skin Disorders Terminated NCT00278642 Phase 1
14 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079 Not Applicable
15 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
16 Correlation of Genetic Polymorphism of Azathioprine Metabolizing Enzymes and Correlation to Clinical Adverse Effects Completed NCT00525473 Azathioprine
17 Drug Reactions Sampling (COLLECTIONTOXIDERMIES) Recruiting NCT03659227
18 Dipeptidyl Peptidase-IV Inhibitors, Risk Factor for Development of Bullous Pemphigoid? Recruiting NCT03636763 data report
19 Autoimmune Blistering Diseases Study Recruiting NCT02753777
20 Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases Recruiting NCT01952275
21 Serum IL-21 Levels in Patients With Pemphigus Vulgaris Not yet recruiting NCT03177213
22 Evaluating Sirolimus to Treat Autoimmune Blistering Dermatosis Pemphigus Terminated NCT01313923 Early Phase 1 Sirolimus (formerly known as Rapamycin)

Search NIH Clinical Center for Bullous Skin Disease

Genetic Tests for Bullous Skin Disease

Anatomical Context for Bullous Skin Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Bullous Skin Disease:

19
Skin

MalaCards organs/tissues related to Bullous Skin Disease:

41
Skin, Testes, B Cells, Colon

Publications for Bullous Skin Disease

Articles related to Bullous Skin Disease:

(show all 11)
# Title Authors Year
1
Autoimmune Bullous Skin Disease Managed with Ayurvedic Treatment: A Case Report. ( 29269977 )
2017
2
Association between schizophrenia and an autoimmune bullous skin disease-pemphigus: a population-based large-scale study. ( 28942756 )
2017
3
A Case of Bullous Skin Disease Presenting with Odynophagia: A Diagnostic Challenge. ( 27066279 )
2016
4
Lyell syndrome revisited: analysis of 18 cases of severe bullous skin disease in a burns unit. ( 15629170 )
2005
5
RasGAP-like protein IQGAP1 is expressed by human keratinocytes and recognized by autoantibodies in association with bullous skin disease. ( 12603848 )
2003
6
Bullous skin disease: an unusual allergic reaction to vancomycin. ( 12018672 )
2002
7
A paraneoplastic mixed bullous skin disease: breakdown in tolerance to multiple epidermal antigens. ( 10886150 )
2000
8
Bullous skin disease in lupus erythematosus. ( 9061659 )
1997
9
A paraneoplastic mixed bullous skin disease associated with anti-skin antibodies and a B-cell lymphoma. ( 8323309 )
1993
10
A bullous skin disease patient with autoantibodies against separate epitopes in 1 mol/L sodium chloride split skin. ( 1379792 )
1992
11
Immunofluorescence testing in a bullous skin disease of a dog. ( 767311 )
1976

Variations for Bullous Skin Disease

Expression for Bullous Skin Disease

Search GEO for disease gene expression data for Bullous Skin Disease.

Pathways for Bullous Skin Disease

GO Terms for Bullous Skin Disease

Cellular components related to Bullous Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.98 DSC2 DSG3 DSP EVPL IQGAP1 LAMA3
2 cell junction GO:0030054 9.81 COL17A1 DSC2 DSC3 DSG1 DSG3 DSP
3 cell-cell junction GO:0005911 9.65 COL17A1 DSC3 DSG1 DSP IQGAP1
4 intermediate filament GO:0005882 9.62 DSP DST EVPL PPL
5 basement membrane GO:0005604 9.58 COL17A1 DST LAMA3
6 cornified envelope GO:0001533 9.5 DSC2 DSC3 DSG1 DSG3 DSP EVPL
7 hemidesmosome GO:0030056 9.37 COL17A1 DST
8 desmosome GO:0030057 9.17 DSC2 DSC3 DSG1 DSG3 DSP EVPL
9 membrane GO:0016020 10.23 ATP2A2 ATP2C1 COL17A1 DSC2 DSC3 DSG1

Biological processes related to Bullous Skin Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.87 ATP2A2 DSC2 DSC3 DSG1 DSG3 DST
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.73 DSC2 DSC3 DSG1 DSG3
3 wound healing GO:0042060 9.71 DSP DST EVPL PPL
4 calcium ion transport GO:0006816 9.69 ATP2A2 ATP2C1 CCL5
5 cellular calcium ion homeostasis GO:0006874 9.67 ATP2A2 ATP2C1 CCL5
6 epidermis development GO:0008544 9.63 ATP2A2 ATP2C1 COL17A1 DSP EVPL LAMA3
7 intermediate filament cytoskeleton organization GO:0045104 9.56 DSP DST EVPL PPL
8 cellular response to fibroblast growth factor stimulus GO:0044344 9.55 CCL5 IQGAP1
9 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.54 ATP2A2 ATP2C1
10 hemidesmosome assembly GO:0031581 9.54 COL17A1 DST LAMA3
11 positive regulation of JAK-STAT cascade GO:0046427 9.52 CCL5 IL5
12 keratinization GO:0031424 9.5 DSC2 DSC3 DSG1 DSG3 DSP EVPL
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.48 DSC2 DSP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.46 DSC2 DSP
15 cornification GO:0070268 9.17 DSC2 DSC3 DSG1 DSG3 DSP EVPL

Molecular functions related to Bullous Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 S100 protein binding GO:0044548 9.37 ATP2A2 IQGAP1
2 structural molecule activity GO:0005198 9.35 DSP DST EVPL LAMA3 PPL
3 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.32 ATP2A2 ATP2C1
4 calcium-transporting ATPase activity GO:0005388 9.26 ATP2A2 ATP2C1
5 calcium ion binding GO:0005509 9.17 ATP2A2 DSC2 DSC3 DSG1 DSG3 DST
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.16 DSC2 DSP

Sources for Bullous Skin Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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