Aliases & Classifications for Bullous Skin Disease

MalaCards integrated aliases for Bullous Skin Disease:

Name: Bullous Skin Disease 12 15 17
Skin Diseases, Bullous 74
Skin Diseases Bullous 56

Classifications:



External Ids:

Disease Ontology 12 DOID:8502
ICD9CM 36 694.8

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 Dapsone and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotype is 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 73)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 31.7 COL17A1 DST LAMA3
2 skin disease 28.9 ATP2C1 COL17A1 DSC3 DSG1 DSG3 DSP
3 bullous pemphigoid 28.6 COL17A1 DSG1 DSG3 DSP DST EVPL
4 pemphigus 27.8 ATP2C1 COL17A1 DSC3 DSG1 DSG2 DSG3
5 lichen planus pemphigoides 10.4 COL17A1 DST
6 linear iga disease 10.4 COL17A1 DST
7 neurotic excoriation 10.4 COL17A1 DST
8 bullous impetigo 10.3 DSG1 DSG3
9 epidermolysis bullosa simplex with muscular dystrophy 10.3 COL17A1 DST
10 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSG1 DSP
11 pemphigus erythematosus 10.3 DSG3 DSP
12 striate palmoplantar keratoderma 10.3 DSG1 DSP
13 lichen disease 10.3 COL17A1 DSG1 DST
14 epithelial basement membrane dystrophy 10.3 COL17A1 IQGAP1
15 pemphigoid gestationis 10.3 COL17A1 DST IL5
16 herpetiform pemphigus 10.2 DSG1 DSG3 DST
17 lichen planus 10.2 COL17A1 DSG3 DST
18 benign chronic pemphigus 10.2 ATP2C1 DSP
19 respiratory syncytial virus infectious disease 10.2 CCL5 IL5
20 darier-white disease 10.2 ATP2C1 DSP
21 chronic conjunctivitis 10.1 CCL5 IL5
22 status asthmaticus 10.1 CCL5 IL5
23 chronic eosinophilic pneumonia 10.1 CCL5 IL5
24 vesiculobullous skin disease 10.1 COL17A1 DST LAMA3
25 epidermolysis bullosa acquisita 10.1 COL17A1 DST LAMA3
26 ecthyma 10.1 COL17A1 DST
27 kimura disease 10.1 CCL5 IL5
28 epidermolysis bullosa, junctional, non-herlitz type 10.1 COL17A1 DST LAMA3
29 junctional epidermolysis bullosa 10.1 COL17A1 DST LAMA3
30 vernal keratoconjunctivitis 10.1 CCL5 IL5
31 palmoplantar keratoderma and woolly hair 10.1 DSC2 DSP
32 transverse colon cancer 10.1 DSC2 DSC3
33 folliculitis 10.1 CCL5 IL5
34 naxos disease 10.1 DSC2 DSP
35 ectodermal dysplasia/skin fragility syndrome 10.1 DSC2 DSP
36 pemphigus vegetans 10.1 DSC3 DSG1 PPL
37 follicular dendritic cell sarcoma 10.1 DSP EVPL PPL
38 inclusion conjunctivitis 10.0 CCL5 IL5
39 ritter's disease 10.0 DSG1 DSG2
40 epidermolysis bullosa junctionalis with pyloric atresia 10.0 COL17A1 DST
41 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSC2 DSG1 DSP
42 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 DSG2 DSP
43 lupus erythematosus 9.9
44 epidermolysis bullosa 9.9 COL17A1 DSP DST LAMA3
45 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 DSG2 DSP
46 autoimmune disease 9.8
47 systemic lupus erythematosus 9.8
48 schizophrenia 9.8
49 dermatitis herpetiformis, familial 9.8
50 autoimmune disease 1 9.8

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 ATP2C1 DSC3 DSG1 DSG3 DSP EVPL

Drugs & Therapeutics for Bullous Skin Disease

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapsone Approved, Investigational Phase 4,Phase 1 80-08-0 2955
2
leucovorin Approved Phase 4,Phase 1 58-05-9 143 6006
3
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 5311051 32798
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 59-30-3 6037
7
Calcium Approved, Nutraceutical Phase 4,Phase 3 7440-70-2 271
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
9 Antimalarials Phase 4,Phase 1
10 Folic Acid Antagonists Phase 4,Phase 1
11 Vitamin B9 Phase 4,Phase 1
12 Antiparasitic Agents Phase 4,Phase 1
13 Antiprotozoal Agents Phase 4,Phase 1
14 Vitamin B Complex Phase 4,Phase 1
15 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Early Phase 1
16 Folate Phase 4,Phase 1
17 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Early Phase 1
18 Calcium, Dietary Phase 4,Phase 3
19 glucocorticoids Phase 4
20 Calciferol Phase 4
21 Hormones Phase 4
22 Vitamins Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
25 Hydrocortisone 17-butyrate 21-propionate Phase 4
26 Hydrocortisone hemisuccinate Phase 4
27 Hormone Antagonists Phase 4
28
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
29
Mycophenolic acid Approved Phase 3 24280-93-1 446541
30
Ezetimibe Approved Phase 3 163222-33-1 150311
31
Atorvastatin Approved Phase 3 134523-00-5 60823
32 Antibiotics, Antitubercular Phase 3,Early Phase 1
33 Antitubercular Agents Phase 3
34 Antimetabolites Phase 3
35 Anticholesteremic Agents Phase 3
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
37 Hypolipidemic Agents Phase 3
38 Lipid Regulating Agents Phase 3
39 Rosuvastatin Calcium Phase 3 147098-20-2
40
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
41 Antibodies Phase 1, Phase 2,Phase 2
42 Immunoglobulins, Intravenous Phase 1, Phase 2
43 Immunologic Factors Phase 1, Phase 2,Phase 2,Early Phase 1
44 Immunoglobulins Phase 1, Phase 2,Phase 2
45 Rho(D) Immune Globulin Phase 1, Phase 2
46 gamma-Globulins Phase 1, Phase 2
47 Vaccines Phase 2,Phase 1
48 Pharmaceutical Solutions Phase 1, Phase 2
49 Protein Kinase Inhibitors Phase 2
50
Erlotinib Hydrochloride Phase 2 183319-69-9 176871

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Clinical Utility Of Genetic Screening For HLA-B*1301, On Susceptibility To Dapsone Hypersensitivity Syndrome Unknown status NCT02550080 Phase 4 Dapsone
2 Influence of Dermocorticoids on Bone Mineral Density in Patients With Bullous Pemphigoid Not yet recruiting NCT03926377 Phase 4
3 Minocycline Therapy for Lung Scarring in Patients With Idiopathic Pulmonary Fibrosis - a Pilot Study Unknown status NCT00203697 Phase 3 minocycline
4 Pharmacokinetics Study of Mycophenolic Acid in Patients With an Autoimmune Bullous Dermatose, Pemphigus or Cicatricial Pemphigoid. Completed NCT02993133 Phase 3 Cellcept® in autoimmune bullous dermatoses
5 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
6 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
7 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
8 Clinical Evaluation of Anti-CHIKV Hyperimmune Intravenous Immunoglobulins Unknown status NCT02230163 Phase 1, Phase 2
9 Safety & Immunogenicity of GlaxoSmithKline Biologicals' Herpes Zoster Vaccine 1437173A Completed NCT00920218 Phase 2
10 Immunogenicity and Safety Study of GSK Biologicals' Herpes Zoster Vaccine With Various Formulations in Adults >= 50 Years Completed NCT00802464 Phase 1, Phase 2
11 Evaluate Safety & Immunogenicity of a Pandemic Influenza Vaccine (GSK1562902A) in Children Completed NCT00502593 Phase 2
12 A Study of Management of Tarceva - Induced Rash in Patients With Non-Small Cell Lung Cancer. Completed NCT00531934 Phase 2 Doxycline;erlotinib [Tarceva]
13 Pharmacokinetics and Distribution of Dapsone in Leucocytes After Single-dose and Multiple-dose Administration Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
14 Hematopoietic Stem Cell Support in Patients With Autoimmune Bullous Skin Disorders Terminated NCT00278642 Phase 1
15 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079 Not Applicable
16 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
17 Correlation of Genetic Polymorphism of Azathioprine Metabolizing Enzymes and Correlation to Clinical Adverse Effects Completed NCT00525473 Azathioprine
18 Drug Reactions Sampling (COLLECTIONTOXIDERMIES) Recruiting NCT03659227
19 Dipeptidyl Peptidase-IV Inhibitors, Risk Factor for Development of Bullous Pemphigoid? Recruiting NCT03636763 data report
20 Autoimmune Blistering Diseases Study Recruiting NCT02753777
21 Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases Recruiting NCT01952275
22 Serum IL-21 Levels in Patients With Pemphigus Vulgaris Not yet recruiting NCT03177213
23 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

MalaCards organs/tissues related to Bullous Skin Disease:

42
Skin, Lung, Bone, Neutrophil, T Cells, Testes, B Cells

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

20
Skin

Publications for Bullous Skin Disease

Articles related to Bullous Skin Disease:

(show all 11)
# Title Authors Year
1
Association between schizophrenia and an autoimmune bullous skin disease-pemphigus: a population-based large-scale study. ( 28942756 )
2019
2
Autoimmune Bullous Skin Disease Managed with Ayurvedic Treatment: A Case Report. ( 29269977 )
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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.85 COL17A1 DSC2 DSC3 DSG1 DSG2 DSG3
2 cell-cell junction GO:0005911 9.73 COL17A1 DSC3 DSG1 DSG2 DSP IQGAP1
3 intermediate filament GO:0005882 9.67 DSP DST EVPL PPL
4 basement membrane GO:0005604 9.65 COL17A1 DST LAMA3
5 lateral plasma membrane GO:0016328 9.58 DSG1 DSG2 IQGAP1
6 cornified envelope GO:0001533 9.56 DSC2 DSC3 DSG1 DSG2 DSG3 DSP
7 intercalated disc GO:0014704 9.5 DSC2 DSG2 DSP
8 hemidesmosome GO:0030056 9.46 COL17A1 DST
9 desmosome GO:0030057 9.23 DSC2 DSC3 DSG1 DSG2 DSG3 DSP
10 membrane GO:0016020 10.29 ATP2C1 COL17A1 DSC2 DSC3 DSG1 DSG2
11 plasma membrane GO:0005886 10.19 COL17A1 DSC2 DSC3 DSG1 DSG2 DSG3
12 extracellular exosome GO:0070062 10.03 DSC2 DSG2 DSG3 DSP EVPL IQGAP1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 DSC2 DSC3 DSG1 DSG2 DSG3 DST
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.8 DSC2 DSC3 DSG1 DSG2 DSG3
3 wound healing GO:0042060 9.78 DSP DST EVPL PPL
4 regulation of heart rate by cardiac conduction GO:0086091 9.67 DSC2 DSG2 DSP
5 epidermis development GO:0008544 9.65 ATP2C1 COL17A1 DSP EVPL LAMA3
6 hemidesmosome assembly GO:0031581 9.63 COL17A1 DST LAMA3
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.61 DSC2 DSG2 DSP
8 response to progesterone GO:0032570 9.56 DSG1 DSG2
9 keratinization GO:0031424 9.56 DSC2 DSC3 DSG1 DSG2 DSG3 DSP
10 cellular response to fibroblast growth factor stimulus GO:0044344 9.55 CCL5 IQGAP1
11 positive regulation of JAK-STAT cascade GO:0046427 9.54 CCL5 IL5
12 maternal process involved in female pregnancy GO:0060135 9.52 DSG1 DSG2
13 desmosome organization GO:0002934 9.51 DSG2 DSP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.5 DSC2 DSG2 DSP
15 intermediate filament cytoskeleton organization GO:0045104 9.46 DSP DST EVPL PPL
16 cornification GO:0070268 9.23 DSC2 DSC3 DSG1 DSG2 DSG3 DSP

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.55 DSP DST EVPL LAMA3 PPL
2 calcium ion binding GO:0005509 9.5 DSC2 DSC3 DSG1 DSG2 DSG3 DST
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSC2 DSG2 DSP

Sources for Bullous Skin Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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