MCID: PMP005
MIFTS: 47

Pemphigus Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Pemphigus Vulgaris

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Sources:
30LifeMap Discovery®, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Pemphigus Vulgaris, Aliases & Descriptions:

Name: Pemphigus Vulgaris 30 41 43 47 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
pemphigus vulgaris:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Adult


External Ids:

Orphanet47 704
ICD10 via Orphanet26 L10.0
UMLS via Orphanet61 C0030809
ICD1025 L10.0

Summaries for Pemphigus Vulgaris

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NIH Rare Diseases:41 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 based summary: Pemphigus Vulgaris is related to pemphigus foliaceus and pemphigus, and has symptoms including abnormality of the oral cavity, atypical scarring of skin and urticaria. 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:63 Pemphigus vulgaris is a chronic blistering skin disease with skin lesions that are rarely pruritic, but... more...

Related Diseases for Pemphigus Vulgaris

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Diseases in the Pemphigus Vulgaris family:

Pemphigus Vulgaris, Familial

Diseases related to Pemphigus Vulgaris via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus foliaceus32.1EVPL, DSG1
2pemphigus31.7JUP, DSP, DSG4, DSG1, DSC3, EVPL
3bullous pemphigoid31.3EVPL, DSP
4erythema multiforme30.8DSP
5thymoma30.6EVPL, DSP
6hailey-hailey disease30.5DSP, JUP
7sarcoma30.5JUP, DSP, DSG1, EVPL
8dermatitis30.2CCL17, DSG1
9skin disease30.1DSP, DSG1, DSC3, CCL17
10paraneoplastic pemphigus10.7
11pemphigus erythematosus10.6
12esophagitis10.6
13pemphigus vulgaris, familial10.6
14gingivitis10.5
15thyroiditis10.5
16lichen planus10.5
17paronychia10.5
18palmoplantar keratoderma, nonepidermolytic10.5EVPL
19herpes simplex10.4
20psoriasis10.4
21blindness10.4
22pemphigus vegetans10.4
23impetigo10.4DSG4
24rheumatoid arthritis10.4
25arthritis10.4
26nocardiosis10.4
27cicatricial pemphigoid10.4
28folliculitis10.4
29lupus erythematosus10.4
30periodontitis10.4
31oral lichen planus10.4
32tufted hair folliculitis10.4
33bullous skin disease10.3EVPL, DSG1
34alopecia10.3
35hematopoietic stem cell transplantation10.3
36myasthenia gravis10.3
37silicosis10.3
38pharyngitis10.3
39acanthosis nigricans10.3
40eczema herpeticum10.3
41oral submucous fibrosis10.3
42cheilitis10.3
43meningitis10.3
44papilloma10.3
45vaginitis10.3
46castleman's disease10.3
47ocular cicatricial pemphigoid10.3
48polymyositis10.3
49subcorneal pustular dermatosis10.3DSG1, DSC3
50keratosis10.2DSP, JUP

Graphical network of the top 20 diseases related to Pemphigus Vulgaris:



Diseases related to pemphigus vulgaris

Symptoms for Pemphigus Vulgaris

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Symptoms:

 47 (show all 10)
  • abnormal scarring/cheloids/hypertrophic scars
  • 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

HPO human phenotypes related to Pemphigus Vulgaris:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 atypical scarring of skin hallmark (90%) HP:0000987
3 urticaria hallmark (90%) HP:0001025
4 weight loss hallmark (90%) HP:0001824
5 autoimmunity hallmark (90%) HP:0002960
6 abnormal blistering of the skin hallmark (90%) HP:0008066
7 feeding difficulties in infancy hallmark (90%) HP:0008872
8 acantholysis hallmark (90%) HP:0100792
9 recurrent cutaneous abscess formation hallmark (90%) HP:0100838

Drugs & Therapeutics for Pemphigus Vulgaris

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Drug clinical trials:

Search ClinicalTrials for Pemphigus Vulgaris

Search NIH Clinical Center for Pemphigus Vulgaris

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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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MalaCards organs/tissues related to Pemphigus Vulgaris:

31
Skin, T cells, B cells, Thyroid, Testes, Neutrophil, Bone marrow, Eye, Bone, Lymph node, Colon, Kidney, Lung, Cervix, Tongue

Animal Models for Pemphigus Vulgaris or affiliated genes

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MGI Mouse Phenotypes related to Pemphigus Vulgaris:

35
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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Articles related to Pemphigus Vulgaris:

(show top 50)    (show all 770)
idTitleAuthorsYear
1
Paradoxical Worsening of Pemphigus Vulgaris Following Rituximab Therapy. (25832868)
2015
2
Prognostic factors in pemphigus vulgaris and pemphigus foliaceus. (24102444)
2013
3
Laboratory diagnosis of herpesvirus infections in patients with Pemphigus vulgaris lesions. (23735576)
2013
4
Direct immunofluorescence of the outer root sheath in anagen and telogen hair in pemphigus vulgaris and pemphigus foliaceus. (23713982)
2013
5
Neural nitric oxide synthase participates in pemphigus vulgaris acantholysis through upregulation of Rous sarcoma, mammalian target of rapamycin and focal adhesion kinase. (23362871)
2013
6
An unusual epiglottis synechiae managed with transoral robotic surgery in a patient with pemphigus vulgaris. (24036806)
2013
7
Mechanisms of mitochondrial damage in keratinocytes by pemphigus vulgaris antibodies. (23599429)
2013
8
Adjuvant rituximab in the treatment of pemphigus vulgaris: a phase II clinical trial. (23789604)
2013
9
Signaling dependent and independent mechanisms in pemphigus vulgaris blister formation. (23226536)
2012
10
Aberrant epigenetic modifications in peripheral blood mononuclear cells from patients with pemphigus vulgaris. (22512277)
2012
11
Pathogenic relevance of IgG and IgM antibodies against desmoglein 3 in blister formation in pemphigus vulgaris. (21718682)
2011
12
Acute zoster in known pemphigus vulgaris and bullous pemphigoid: avoiding the "disease flare" trap. (21571161)
2011
13
HLA-DRB1*04:02, DRB1*08:04 and DRB1*14 alleles associated to pemphigus vulgaris in southeastern Brazilian population. (21554253)
2011
14
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
15
Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer. (19997107)
2010
16
The efficacy of nicotinamide gel 4% as an adjuvant therapy in the treatment of cutaneous erosions of pemphigus vulgaris. (20597951)
2010
17
ABO blood groups and pemphigus vulgaris: no relationship. (20372776)
2010
18
Binding of pemphigus vulgaris IgG to antigens in desmosome core domains excludes immune complexes rather than directly splitting desmosomes. (20222919)
2010
19
Desquamative esophagitis due to pemphigus vulgaris. (21086254)
2010
20
Targeted immunotherapy with rituximab leads to a transient alteration of the IgG autoantibody profile in pemphigus vulgaris. (20671975)
2010
21
Autoimmunity to desmocollin 3 in pemphigus vulgaris. (20952584)
2010
22
An imbalance in Akt/mTOR is involved in the apoptotic and acantholytic processes in a mouse model of pemphigus vulgaris. (19552768)
2009
23
Loss of the desmosomal protein perp enhances the phenotypic effects of pemphigus vulgaris autoantibodies. (19158843)
2009
24
Prevalence of non-organ-specific autoantibodies in patients with pemphigus vulgaris. (19298776)
2009
25
Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. (18505410)
2008
26
CD4+CD25high regulatory T cells are markedly decreased in blood of patients with pemphigus vulgaris. (17377382)
2007
27
Treatment of refractory pemphigus vulgaris with anti-CD20 monoclonal antibody (rituximab): five cases. (17538808)
2007
28
Rituximab therapy in severe juvenile pemphigus vulgaris. (18038698)
2007
29
Pemphigus vulgaris and pemphigus foliaceus: similar prognosis? (17822493)
2007
30
Synergistic actions of pemphigus vulgaris IgG, Fas-ligand and tumor necrosis factor-alpha during induction of basal cell shrinkage and acantholysis. (17101499)
2006
31
Preliminary data on Pemphigus vulgaris treatment by a proteomics-defined peptide: a case report. (17062151)
2006
32
Mucosal dominant pemphigus vulgaris with anti-desmoplakin autoantibodies. (15243525)
2004
33
Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]. (12579512)
2003
34
Treatment of pemphigus vulgaris and pemphigus foliaceus with mycophenolate mofetil. (12810504)
2003
35
Tufted hair folliculitis associated with pemphigus vulgaris. (12705759)
2003
36
Paraneoplastic pemphigus with circulating antibodies directed exclusively against the pemphigus vulgaris antigen desmoglein 3. (11004638)
2000
37
Analysis of the T cells that are potentially involved in autoantibody production in pemphigus vulgaris. (10635617)
1999
38
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
39
Desmoglein 3-ELISA: a pemphigus vulgaris-specific diagnostic tool. (10052398)
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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Search GEO for disease gene expression data for Pemphigus Vulgaris.

Pathways for genes affiliated with Pemphigus Vulgaris

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Pathways related to Pemphigus Vulgaris according to GeneCards Suite gene sharing:

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 Degradation36
Immune response Antigen presentation by MHC class I58
8.8DSG1, DSP, HLA-G

Compounds for genes affiliated with Pemphigus Vulgaris

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Compounds related to Pemphigus Vulgaris according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1rituximab43 49 1211.6DSG1, TNFSF13B
2ryanodine43 28 5911.3DSP, JUP
3sucrose43 24 1211.2JUP, DSP, DSG1
4calcium43 49 24 129.4CCL17, HLA-G, TNFSF13B, JUP, DSP, DSG4

GO Terms for genes affiliated with Pemphigus Vulgaris

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Cellular components related to Pemphigus Vulgaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00059169.7JUP, DSP
2cytoplasmic side of plasma membraneGO:00098989.7JUP, DSG1
3cornified envelopeGO:00015339.7DSP, EVPL
4intercalated discGO:00147049.6JUP, DSP
5intermediate filamentGO:00058829.6JUP, DSP
6lateral plasma membraneGO:00163289.5DSG1, JUP
7cell-cell junctionGO:00059119.5DSC3, DSG1, JUP
8desmosomeGO:00300578.2JUP, DSC3, EVPL, DSG1, DSP, DSG4
9plasma membraneGO:00058867.2DSC3, HLA-G, TNFSF13B, DSP, DSG4, DSG1

Biological processes related to Pemphigus Vulgaris according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell to Purkinje myocyte communicationGO:00860699.8JUP, DSP
2ventricular cardiac muscle cell action potentialGO:00860059.7JUP, DSP
3peptide cross-linkingGO:00181499.7EVPL, DSP
4protein stabilizationGO:00508219.7DSC3, DSG1
5regulation of heart rate by cardiac conductionGO:00860919.6DSP, JUP
6adherens junction organizationGO:00343329.6JUP, DSP
7cellular component disassembly involved in execution phase of apoptosisGO:00069219.5DSG1, DSP
8cell-cell adhesionGO:00163379.5DSG1, DSP, JUP
9homophilic cell adhesionGO:00071569.5DSC3, DSG1, DSG4
10keratinocyte differentiationGO:00302169.4EVPL, DSG4, DSP
11epidermis developmentGO:00085449.3EVPL, DSP

Molecular functions related to Pemphigus Vulgaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:00452959.7DSC3, DSG1
2protein binding, bridgingGO:00306749.6EVPL, DSP
3structural molecule activityGO:00051989.1EVPL, DSP, JUP
4receptor bindingGO:00051028.2HLA-G, TNFSF13B, CCL17

Products for genes affiliated with Pemphigus Vulgaris

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Sources for Pemphigus Vulgaris

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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