MCID: PMP005
MIFTS: 55

Pemphigus Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Pemphigus Vulgaris

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. it occurs almost exclusively in middle-aged or older people. many cases begin with blisters in the mouth, followed by skin blisters that may come and go. in most cases, the exact cause of pemphigus vulgaris is unknown. it has rarely been observed in multiple members of the same family. treatment is aimed at reducing symptoms and preventing complications. severe cases are treated similarly to severe burns. last updated: 3/16/2010

MalaCards: Pemphigus Vulgaris is related to pemphigus and pemphigus foliaceus, and has symptoms including urticaria, vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment and positive nikolski's sign/achantolysis. An important gene associated with Pemphigus Vulgaris is DSG1 (desmoglein 1), and among its related pathways are Apoptotic cleavage of cellular proteins and Cytoskeleton remodeling Keratin filaments. The compounds rituximab and ryanodine have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related mouse phenotypes are integument and immune system.

Wikipedia:65 Pemphigus vulgaris is a chronic blistering skin disease with skin lesions that are rarely pruritic, but... more...

Description from OMIM:47 169610

Aliases & Classifications for Pemphigus Vulgaris

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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 31LifeMap Discovery™, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
pemphigus vulgaris:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

pemphigus vulgaris 43 45 49 47 31 62


External Ids:

OMIM47 169610
ICD10 via Orphanet26 L10.0
SNOMED-CT via Orphanet59 49420001
UMLS via Orphanet63 C0030809
ICD1025 L10.0

Related Diseases for Pemphigus Vulgaris

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pemphigus Vulgaris:



Diseases related to pemphigus vulgaris

Symptoms for Pemphigus Vulgaris

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

169610

Clinical features from OMIM:

169610

Symptoms:

49 (show all 10)
  • urticaria
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • positive nikolski's sign/achantolysis
  • furuncle/cutaneous abscess/hidrosadenitis suppurativa
  • enanthema/aphtosa/aphta/leukoplakia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autoimmunity/autoimmune reaction/autoantibodies
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • abnormal scarring/cheloids/hypertrophic scars

Drugs & Therapeutics for Pemphigus Vulgaris

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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pemphigus Vulgaris

Search NIH Clinical Center for Pemphigus Vulgaris

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Pemphigus Vulgaris cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Pemphigus Vulgaris:
Hematopoietic stem cells for pemphigus

Genetic Tests for Pemphigus Vulgaris

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Anatomical Context for Pemphigus Vulgaris

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33MalaCards
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MalaCards organs/tissues related to Pemphigus Vulgaris:

33
Skin, T cells, B cells, Thyroid, Lymph node, Colon, Kidney, Lung, Tongue, Testes, Bone, Bone marrow

Animal Models for Pemphigus Vulgaris or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pemphigus Vulgaris:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1EVPL, DSC3, DSG4, DSP, JUP
2MP:00053877.7TNFSF13B, JUP, DSG4, CCL17, HLA-G

Publications for Pemphigus Vulgaris

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52PubMed
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Articles related to Pemphigus Vulgaris:

(show top 50)    (show all 722)
idTitleAuthorsYear
1
Prognostic factors in pemphigus vulgaris and pemphigus foliaceus. (24102444)
2013
2
Laboratory diagnosis of herpesvirus infections in patients with Pemphigus vulgaris lesions. (23735576)
2013
3
Direct immunofluorescence of the outer root sheath in anagen and telogen hair in pemphigus vulgaris and pemphigus foliaceus. (23713982)
2013
4
Neural nitric oxide synthase participates in pemphigus vulgaris acantholysis through upregulation of Rous sarcoma, mammalian target of rapamycin and focal adhesion kinase. (23362871)
2013
5
An unusual epiglottis synechiae managed with transoral robotic surgery in a patient with pemphigus vulgaris. (24036806)
2013
6
Mechanisms of mitochondrial damage in keratinocytes by pemphigus vulgaris antibodies. (23599429)
2013
7
Adjuvant rituximab in the treatment of pemphigus vulgaris: a phase II clinical trial. (23789604)
2013
8
Signaling dependent and independent mechanisms in pemphigus vulgaris blister formation. (23226536)
2012
9
Aberrant epigenetic modifications in peripheral blood mononuclear cells from patients with pemphigus vulgaris. (22512277)
2012
10
Acute zoster in known pemphigus vulgaris and bullous pemphigoid: avoiding the "disease flare" trap. (21571161)
2011
11
HLA-DRB1*04:02, DRB1*08:04 and DRB1*14 alleles associated to pemphigus vulgaris in southeastern Brazilian population. (21554253)
2011
12
A randomized controlled trial of the addition of mycophenolate mofetil or placebo to oral corticosteroids in the treatment of pemphigus vulgaris fails to demonstrate a significant difference in the primary outcome or quality of life. (21482899)
2011
13
Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer. (19997107)
2010
14
The efficacy of nicotinamide gel 4% as an adjuvant therapy in the treatment of cutaneous erosions of pemphigus vulgaris. (20597951)
2010
15
ABO blood groups and pemphigus vulgaris: no relationship. (20372776)
2010
16
Binding of pemphigus vulgaris IgG to antigens in desmosome core domains excludes immune complexes rather than directly splitting desmosomes. (20222919)
2010
17
Desquamative esophagitis due to pemphigus vulgaris. (21086254)
2010
18
Autoimmunity to desmocollin 3 in pemphigus vulgaris. (20952584)
2010
19
Development of pemphigus vulgaris in a patient with psoriasis treated with cyclosporine. (20633813)
2010
20
An imbalance in Akt/mTOR is involved in the apoptotic and acantholytic processes in a mouse model of pemphigus vulgaris. (19552768)
2009
21
Loss of the desmosomal protein perp enhances the phenotypic effects of pemphigus vulgaris autoantibodies. (19158843)
2009
22
Prevalence of non-organ-specific autoantibodies in patients with pemphigus vulgaris. (19298776)
2009
23
Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. (18505410)
2008
24
CD4+CD25high regulatory T cells are markedly decreased in blood of patients with pemphigus vulgaris. (17377382)
2007
25
Treatment of refractory pemphigus vulgaris with anti-CD20 monoclonal antibody (rituximab): five cases. (17538808)
2007
26
Rituximab therapy in severe juvenile pemphigus vulgaris. (18038698)
2007
27
Pemphigus vulgaris and pemphigus foliaceus: similar prognosis? (17822493)
2007
28
Synergistic actions of pemphigus vulgaris IgG, Fas-ligand and tumor necrosis factor-alpha during induction of basal cell shrinkage and acantholysis. (17101499)
2006
29
Preliminary data on Pemphigus vulgaris treatment by a proteomics-defined peptide: a case report. (17062151)
2006
30
Simultaneous onset of pemphigus vulgaris in two Turkish siblings. (15863864)
2005
31
Mucosal dominant pemphigus vulgaris with anti-desmoplakin autoantibodies. (15243525)
2004
32
Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]. (12579512)
2003
33
Treatment of pemphigus vulgaris and pemphigus foliaceus with mycophenolate mofetil. (12810504)
2003
34
Tufted hair folliculitis associated with pemphigus vulgaris. (12705759)
2003
35
Paraneoplastic pemphigus with circulating antibodies directed exclusively against the pemphigus vulgaris antigen desmoglein 3. (11004638)
2000
36
Analysis of the T cells that are potentially involved in autoantibody production in pemphigus vulgaris. (10635617)
1999
37
Anti-intercellular substance antibody log titres are correlated with serum concentrations of interleukin-6, interleukin-15 and tumor necrosis factor-alpha in patients with Pemphigus vulgaris relationships with peripheral blood neutrophil counts, disease severity and duration and patients' age. (10703946)
1999
38
Desmoglein 3-ELISA: a pemphigus vulgaris-specific diagnostic tool. (10052398)
1999
39
A pathogenic autoantibody, pemphigus vulgaris-IgG, induces phosphorylation of desmoglein 3, and its dissociation from plakoglobin in cultured keratinocytes. (10427986)
1999
40
Antibodies against desmoglein 3 (pemphigus vulgaris antigen) are present in sera from patients with paraneoplastic pemphigus and cause acantholysis in vivo in neonatal mice. (9710446)
1998
41
Mucosal and mucocutaneous (generalized) pemphigus vulgaris show distinct autoantibody profiles. (9326396)
1997
42
Herpetiform pemphigus showing reactivity with pemphigus vulgaris antigen (desmoglein 3) (9274636)
1997
43
Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element. (8663392)
1996
44
Paronychia--a manifestation of pemphigus vulgaris. (8959911)
1996
45
Pemphigus foliaceus and pemphigus vulgaris autoantibodies react with the extracellular domain of desmoglein-1. (7860995)
1995
46
Granulocyte activation in bullous diseases: release of granular proteins in bullous pemphigoid and pemphigus vulgaris. (8393016)
1993
47
Paronychia: a sign heralding an exacerbation of pemphigus vulgaris. (8349873)
1993
48
Ultrastructural binding site of pemphigus foliaceus autoantibodies: comparison with pemphigus vulgaris. (1918503)
1991
49
Sequence analysis of the HLA-DR beta and HLA-DQ beta loci from three Pemphigus vulgaris patients. (3391803)
1988
50
A newly characterized HLA DQ beta allele associated with pemphigus vulgaris. (2894075)
1988

Variations for Pemphigus Vulgaris

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Expression for genes affiliated with Pemphigus Vulgaris

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pemphigus Vulgaris

Search GEO for disease gene expression data for Pemphigus Vulgaris.

Pathways for genes affiliated with Pemphigus Vulgaris

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 5Cell Signaling Technology, 51PharmGKB, 30KEGG, 53QIAGEN
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Pathways related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DSG1, DSP
29.6EVPL, DSP
39.6DSP, JUP
49.6DSP, JUP
59.6JUP, DSP
6
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.8DSG1, DSP, HLA-G

Compounds for genes affiliated with Pemphigus Vulgaris

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rituximab45 51 1111.6DSG1, TNFSF13B
2ryanodine45 29 6111.3DSP, JUP
3sucrose45 24 1111.2JUP, DSP, DSG1
4calcium45 51 24 119.4CCL17, HLA-G, TNFSF13B, JUP, DSP, DSG4

GO Terms for genes affiliated with Pemphigus Vulgaris

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16Gene Ontology
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Cellular components related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:0059169.7DSP, JUP
2cytoplasmic side of plasma membraneGO:0098989.7DSG1, JUP
3cornified envelopeGO:0015339.7EVPL, DSP
4intercalated discGO:0147049.6JUP, DSP
5intermediate filamentGO:0058829.6DSP, JUP
6lateral plasma membraneGO:0163289.5DSG1, JUP
7cell-cell junctionGO:0059119.5JUP, DSG1, DSC3
8desmosomeGO:0300578.2EVPL, DSC3, DSG1, DSG4, DSP, JUP
9plasma membraneGO:0058867.2HLA-G, TNFSF13B, JUP, DSP, DSG4, DSG1

Biological processes related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell to Purkinje myocyte communicationGO:0860699.8JUP, DSP
2ventricular cardiac muscle cell action potentialGO:0860059.7JUP, DSP
3peptide cross-linkingGO:0181499.7EVPL, DSP
4protein stabilizationGO:0508219.7DSC3, DSG1
5regulation of heart rate by cardiac conductionGO:0860919.6DSP, JUP
6adherens junction organizationGO:0343329.6JUP, DSP
7cellular component disassembly involved in execution phase of apoptosisGO:0069219.5DSG1, DSP
8cell-cell adhesionGO:0163379.5DSG1, DSP, JUP
9homophilic cell adhesionGO:0071569.5DSC3, DSG1, DSG4
10keratinocyte differentiationGO:0302169.4EVPL, DSG4, DSP
11epidermis developmentGO:0085449.3EVPL, DSP

Molecular functions related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:0452959.7DSC3, DSG1
2protein binding, bridgingGO:0306749.6EVPL, DSP
3structural molecule activityGO:0051989.1EVPL, DSP, JUP
4receptor bindingGO:0051028.2HLA-G, TNFSF13B, CCL17

Products for genes affiliated with Pemphigus Vulgaris

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pemphigus Vulgaris

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet