MCID: BLL007
MIFTS: 35

Bullous Skin Disease

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Bullous Skin Disease

MalaCards integrated aliases for Bullous Skin Disease:

Name: Bullous Skin Disease 12 15
Skin Diseases, Bullous 71
Skin Diseases Bullous 54

Classifications:



External Ids:

Disease Ontology 12 DOID:8502
UMLS 71 C0085932

Summaries for Bullous Skin Disease

Disease Ontology : 12 A dermatitis 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 pemphigoid and epidermolysis bullosa acquisita, 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 Keratinization. Affiliated tissues include skin and t cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Bullous Skin Disease

Diseases in the Bullous Skin Disease family:

Autoimmune Bullous Skin Disease

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 pemphigoid 31.0 IL5 DST COL17A1
2 epidermolysis bullosa acquisita 30.3 LAMA3 DST COL17A1
3 cicatricial pemphigoid 30.3 LAMA3 DST COL17A1
4 stevens-johnson syndrome/toxic epidermal necrolysis 30.2 IL5 CCL5
5 epidermolysis bullosa 30.1 LAMA3 DST DSP COL17A1
6 bullous pemphigoid 29.8 PPL LAMA3 IL5 EVPL DST DSP
7 skin disease 29.7 LAMA3 IL5 DST DSP DSG4 DSG3
8 pemphigus 29.3 PPL EVPL DST DSP DSG4 DSG3
9 ritter's disease 29.3 DSP DSG4 DSG3 DSG2 DSG1 DSC3
10 paraneoplastic pemphigus 29.1 PPL EVPL DST DSP DSG3 DSG2
11 pemphigus vulgaris, familial 29.0 PPL EVPL DST DSP DSG4 DSG3
12 autoimmune bullous skin disease 11.4
13 lichen planus pemphigoides 10.5 DST COL17A1
14 neurotic excoriation 10.4 DST COL17A1
15 tinea imbricata 10.4 DSG3 DSG1
16 linear iga disease 10.4 DST COL17A1
17 bullous impetigo 10.4 DSG3 DSG1
18 pompholyx 10.4 DST COL17A1
19 pemphigus erythematosus 10.4 DSP DSG3
20 ecthyma 10.4 DST DSG1
21 chromium allergic contact dermatitis 10.4 IL5 CCL5
22 respiratory syncytial virus infectious disease 10.4 IL5 CCL5
23 herpetiform pemphigus 10.4 DST DSG3 DSG1
24 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSP DSG1
25 acute laryngopharyngitis 10.4 DST DSG1 COL17A1
26 mikulicz disease 10.4 IL5 CCR6
27 striate palmoplantar keratoderma 10.4 DSP DSG1
28 diffuse palmoplantar keratoderma 10.4 DSP DSG1
29 epidermolysis bullosa simplex 10.4 DST DSP COL17A1
30 pyoderma 10.4 DSG3 DSG1 CCR6
31 esophagitis, eosinophilic, 1 10.4 IL5 DSG1 CCR6
32 nut allergy 10.4 IL5 CCR6
33 onchocerciasis 10.3 IL5 DSG1 CCL5
34 folliculitis 10.3 IL5 CCR6 CCL5
35 commensal bacterial infectious disease 10.3 IL5 DSG1 CCR6
36 patulous eustachian tube 10.3 IL5 CCL5
37 conjunctival disease 10.3 IL5 CCR6 CCL5
38 pemphigus vegetans 10.3 PPL DSG1 DSC3
39 familial isolated arrhythmogenic right ventricular dysplasia 10.3 DSP DSC2
40 mite infestation 10.3 IL5 COL17A1
41 nasal cavity disease 10.3 IL5 CCR6 CCL5
42 palmoplantar keratoderma and woolly hair 10.3 DSP DSC2
43 common cold 10.3 IL5 CCR6 CCL5
44 nose disease 10.3 IL5 CCR6 CCL5
45 vernal keratoconjunctivitis 10.3 IL5 CCL5
46 erythema multiforme 10.3 IL5 DSP CCL5
47 gluten allergy 10.3 TOR1A TGM2
48 ectodermal dysplasia/skin fragility syndrome 10.3 DSP DSC2
49 lichen planus 10.3 DST DSG3 DSG1 COL17A1
50 jejunoileitis 10.3 TOR1A TGM2

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

GenomeRNAi Phenotypes related to Bullous Skin Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.28 ATP2C1 COL17A1 DSC3 IL5
2 Decreased viability GR00386-A-1 9.28 DSC3 EVPL
3 Decreased viability GR00402-S-2 9.28 DSG4 DSP EVPL

MGI Mouse Phenotypes related to Bullous Skin Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.77 CCL5 CCR6 CDH17 DSC1 DSG2 DSG3
2 integument MP:0010771 9.36 ATP2C1 DSC1 DSC3 DSG1 DSG2 DSG3

Drugs & Therapeutics for Bullous Skin Disease

Search Clinical Trials , 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:

40
Skin, T Cells

Publications for Bullous Skin Disease

Articles related to Bullous Skin Disease:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Clinical activity of pemphigus vulgaris relates to IgE autoantibodies against desmoglein 3. 61 54
20015693 2010
2
Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem). 61 54
16972006 2006
3
Analysis of the T cells that are potentially involved in autoantibody production in pemphigus vulgaris. 61 54
10635617 1999
4
Cloning of partial cDNA for mouse 180-kDa bullous pemphigoid antigen (BPAG2), a highly conserved collagenous protein of the cutaneous basement membrane zone. 61 54
1512460 1992
5
A bullous skin disease patient with autoantibodies against separate epitopes in 1 mol/L sodium chloride split skin. 61 54
1379792 1992
6
A survey of bullous diseases in a Turkish university hospital: clinicoepidemiological characteristics and follow-up. 61
32892539 2020
7
Patients with bullous skin disease in a high-epidemic COVID-19 area, Bergamo, Italy. 61
32479659 2020
8
Association between schizophrenia and an autoimmune bullous skin disease-pemphigus: a population-based large-scale study. 61
28942756 2019
9
B-cell depletion induces a shift in self antigen specific B-cell repertoire and cytokine pattern in patients with bullous pemphigoid. 61
30837635 2019
10
Anti-Type VII Collagen Antibodies Are Identified in a Subpopulation of Bullous Pemphigoid Patients With Relapse. 61
29619029 2018
11
Autoimmune Bullous Skin Disease Managed with Ayurvedic Treatment: A Case Report. 61
29269977 2017
12
Increased risk of stroke in contact dermatitis patients: A nationwide population-based retrospective cohort study. 61
28272195 2017
13
Autoantibodies other than Anti-desmogleins in Pemphigus Vulgaris Patients. 61
28216725 2017
14
Evaluation of exposure of pemphigus vulgaris patients to Mycobacterium tuberculosis and Aspergillus fumigatus. 61
27396270 2016
15
Bullous pemphigoid-like skin blistering disease in a rhesus macaque (Macaca mulatta). 61
27373989 2016
16
Interleukin 4 inhibition as a potential therapeutic in pemphigus. 61
26440137 2016
17
A Case of Bullous Skin Disease Presenting with Odynophagia: A Diagnostic Challenge. 61
27066279 2016
18
Effects of intravenous immunoglobulins on mice with experimental epidermolysis bullosa acquisita. 61
25330299 2015
19
[Future Therapeutic Targets in Management of Autoimmune Skin Diseases]. 61
26234087 2015
20
Dermatitis herpetiformis: pathophysiology, clinical presentation, diagnosis and treatment. 61
25387490 2014
21
[Bullous pemphigoid: diagnosis and therapy]. 61
25077677 2014
22
Human leukocyte antigen-associated drug hypersensitivity. 61
23141566 2013
23
Mortality from acquired bullous diseases of skin in Canadian adults 2000-2007. 61
23067080 2012
24
Circulating CD4+ CD25brightFOXP3+ regulatory T-cells are significantly reduced in bullous pemphigoid patients. 61
22310732 2012
25
Cytokine networks in Pemphigus vulgaris: An integrated viewpoint. 61
22686612 2012
26
Methimazole-induced bullous systemic lupus erythematosus: a case report. 61
22787382 2012
27
Staphylococcal scalded skin syndrome in the Czech Republic: an epidemiological study. 61
22035884 2012
28
Refractory endemic pemphigus foliaceous in adolescence successfully treated with intravenous immunoglobulin. 61
22068793 2011
29
Congenital epidermolysis bullosa acquisita: vertical transfer of maternal autoantibody from mother to infant. 61
21079052 2011
30
[Bullous pemphigoid]. 61
20832237 2010
31
Serum anti-BPAG1 auto-antibody is a novel marker for human melanoma. 54
20479946 2010
32
High-dose intravenous immunoglobulin (IVIG) therapy in autoimmune skin blistering diseases. 61
19557317 2010
33
Autoimmune bullous skin diseases occurring under anti-tumor necrosis factor therapy: two case reports. 61
20720390 2010
34
Autoimmune and infectious skin diseases that target desmogleins. 61
20467217 2010
35
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. 61
19087213 2009
36
Detection and characterization of anti-envoplakin linker autoantibodies in paraneoplastic pemphigus using specific bead-based assay. 54
18790674 2008
37
[Paraneoplastic pemphigus]. 61
17513251 2007
38
A truncated alternative spliced isoform of human desmoglein 1 contains a specific T cell epitope binding to the pemphigus foliaceus-associated HLA class II DRbeta1*0102 molecule. 54
17056584 2006
39
Induction of complement-fixing autoantibodies against type VII collagen results in subepidermal blistering in mice. 61
16920988 2006
40
Follicular dendritic cell tumor of the mediastinum: expression of fractalkine and SDF-1alpha as mast cell chemoattractants. 61
16408220 2006
41
[Significant decrease in quality of life in patients with pemphigus vulgaris. Results from the German Bullous Skin Disease (BSD) Study Group]. 61
15892845 2005
42
A rare association: Castleman's disease and pemphigus vulgaris. 61
16100655 2005
43
Toxic epidermal necrolysis and clarithromycin. 61
16281332 2005
44
Lyell syndrome revisited: analysis of 18 cases of severe bullous skin disease in a burns unit. 61
15629170 2005
45
Mechanisms of blister formation by staphylococcal toxins. 61
15671483 2004
46
[Severe drug-related skin reaction: toxic epidermal necrolysis caused by carbamazepine]. 61
15455296 2004
47
Unusual clinical manifestation of linear IgA dermatosis: a report of two cases. 61
15280828 2004
48
Anti-desmoglein 1 antibodies in Tunisian healthy subjects: arguments for the role of environmental factors in the occurrence of Tunisian pemphigus foliaceus. 54
15196262 2004
49
Type I regulatory T cells specific for desmoglein 3 are more frequently detected in healthy individuals than in patients with pemphigus vulgaris. 54
15128839 2004
50
RasGAP-like protein IQGAP1 is expressed by human keratinocytes and recognized by autoantibodies in association with bullous skin disease. 61
12603848 2003

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

Pathways related to Bullous Skin Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 PPL IL5 EVPL DSP DSG4 DSG3
2
Show member pathways
11.78 PPL EVPL DSP DSG4 DSG3 DSG2
3
Show member pathways
11.62 DSP DSG3 DSG2 DSG1
4
Show member pathways
11.49 PPL EVPL DST DSP
5 11.3 IL5 DSP CCL5
6 10.67 LAMA3 IL5 COL17A1 CDH17 CCL5

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 membrane GO:0016020 10.33 TOR1A PPL LAMA3 EVPL DST DSP
2 plasma membrane GO:0005886 10.2 TGM2 PPL DST DSP DSG4 DSG3
3 extracellular exosome GO:0070062 10.07 TOR1A TGM2 PPL LAMA3 EVPL DSP
4 cell junction GO:0030054 10 TOR1A PPL EVPL DST DSP DSG4
5 cell-cell junction GO:0005911 9.91 DSP DSG4 DSG3 DSG2 DSG1 DSC3
6 intermediate filament GO:0005882 9.8 PPL EVPL DST DSP
7 basement membrane GO:0005604 9.69 LAMA3 DST COL17A1
8 ficolin-1-rich granule membrane GO:0101003 9.65 DSP DSG1 DSC1
9 desmosome GO:0030057 9.65 PPL EVPL DSP DSG4 DSG3 DSG2
10 intercalated disc GO:0014704 9.61 DSP DSG2 DSC2
11 hemidesmosome GO:0030056 9.46 DST COL17A1
12 cornified envelope GO:0001533 9.32 PPL EVPL DSP DSG4 DSG3 DSG2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.06 TOR1A LAMA3 DST DSG4 DSG3 DSG2
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.86 DSG4 DSG3 DSG2 DSG1 DSC3 DSC2
3 keratinization GO:0031424 9.85 PPL EVPL DSP DSG4 DSG3 DSG2
4 epidermis development GO:0008544 9.83 LAMA3 EVPL DSP COL17A1 ATP2C1
5 wound healing GO:0042060 9.8 PPL EVPL DST DSP
6 intermediate filament cytoskeleton organization GO:0045104 9.77 TOR1A PPL EVPL DST DSP
7 integrin-mediated signaling pathway GO:0007229 9.74 LAMA3 DST CDH17
8 keratinocyte differentiation GO:0030216 9.73 EVPL DSP DSG4
9 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.71 DSG1 CDH17 ATP2C1
10 regulation of heart rate by cardiac conduction GO:0086091 9.7 DSP DSG2 DSC2
11 peptide cross-linking GO:0018149 9.69 TGM2 EVPL DSP
12 hemidesmosome assembly GO:0031581 9.65 LAMA3 DST COL17A1
13 cell-cell adhesion GO:0098609 9.65 LAMA3 DSP DSG4 DSG3 DSG2 DSG1
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.63 DSP DSG2 DSC2
15 dendritic cell chemotaxis GO:0002407 9.58 CCR6 CCL5
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.58 DSP DSG2 DSC2
17 desmosome organization GO:0002934 9.55 DSP DSG2
18 cornification GO:0070268 9.32 PPL EVPL DSP DSG4 DSG3 DSG2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10 TGM2 DST DSG4 DSG3 DSG2 DSG1
2 structural molecule activity GO:0005198 9.55 PPL LAMA3 EVPL DST DSP
3 gamma-catenin binding GO:0045295 9.32 DSG1 DSC3
4 calcium ion binding GO:0005509 9.32 DST DSG4 DSG3 DSG2 DSG1 DSC3
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 DSP DSG2 DSC2

Sources for Bullous Skin Disease

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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