MCID: PMP005
MIFTS: 55

Pemphigus Vulgaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Pemphigus Vulgaris

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NIH Rare Diseases:42 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.

OMIM:46 Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients... (169610) more...

Wikipedia:64 Pemphigus vulgaris is a chronic blistering skin disease with skin lesions that are rarely pruritic, but... more...

Aliases & Classifications for Pemphigus Vulgaris

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Sources:
31LifeMap Discovery®, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Pemphigus Vulgaris, Aliases & Descriptions:

Name: Pemphigus Vulgaris 31 42 44 48 46 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
pemphigus vulgaris:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Adulthood


External Ids:

ICD10 via Orphanet27 L10.0
UMLS via Orphanet62 C0030809
OMIM46 169610
ICD1026 L10.0

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/GeneDecks gene sharing:

(show top 50)    (show all 122)
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
6sarcoma30.5JUP, DSP, DSG1, EVPL
7hailey-hailey disease30.5DSP, JUP
8dermatitis30.2CCL17, DSG1
9skin disease30.1DSP, DSG1, DSC3, CCL17
10paraneoplastic pemphigus10.7
11pemphigus erythematosus10.6
12esophagitis10.5
13gingivitis10.5
14thyroiditis10.5
15lichen planus10.5
16paronychia10.5
17mucous membrane pemphigoid10.5
18nonepidermolytic palmoplantar keratoderma10.5EVPL
19herpes simplex10.4
20psoriasis10.4
21pemphigus vulgaris, familial10.4
22blindness10.4
23pemphigus vegetans10.4
24impetigo10.4DSG4
25arthritis10.4
26rheumatoid arthritis10.4
27nocardiosis10.4
28cicatricial pemphigoid10.4
29folliculitis10.4
30kaposi's sarcoma10.4
31lupus erythematosus10.4
32periodontitis10.4
33oral lichen planus10.4
34tufted hair folliculitis10.4
35sepsis10.4
36bullous skin disease10.3EVPL, DSG1
37alopecia10.3
38hematopoietic stem cell transplantation10.3
39myasthenia gravis10.3
40silicosis10.3
41pharyngitis10.3
42eczema herpeticum10.3
43acanthosis nigricans10.3
44meningitis10.3
45papilloma10.3
46vaginitis10.3
47castleman's disease10.3
48ocular cicatricial pemphigoid10.3
49polymyositis10.3
50subcorneal pustular dermatosis10.3DSG1, DSC3

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 by clinical synopsis from OMIM:

169610

Clinical features from OMIM:

169610

Symptoms:

 48 (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 13)
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
10 autosomal dominant inheritance HP:0000006
11 abnormality of metabolism/homeostasis HP:0001939
12 autoimmunity HP:0002960
13 abnormal blistering of the skin HP:0008066

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
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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MalaCards organs/tissues related to Pemphigus Vulgaris:

32
Skin, T cells, B cells, Thyroid, Neutrophil, Bone marrow, Bone, Lymph node, Colon, Kidney, Lung, Testes, Tongue

Animal Models for Pemphigus Vulgaris or affiliated genes

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MGI Mouse Phenotypes related to Pemphigus Vulgaris:

36
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 747)
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
Pathogenic relevance of IgG and IgM antibodies against desmoglein 3 in blister formation in pemphigus vulgaris. (21718682)
2011
11
Acute zoster in known pemphigus vulgaris and bullous pemphigoid: avoiding the "disease flare" trap. (21571161)
2011
12
HLA-DRB1*04:02, DRB1*08:04 and DRB1*14 alleles associated to pemphigus vulgaris in southeastern Brazilian population. (21554253)
2011
13
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
14
Pemphigus vulgaris antigen mRNA quantification for the staging of sentinel lymph nodes in head and neck cancer. (19997107)
2010
15
The efficacy of nicotinamide gel 4% as an adjuvant therapy in the treatment of cutaneous erosions of pemphigus vulgaris. (20597951)
2010
16
ABO blood groups and pemphigus vulgaris: no relationship. (20372776)
2010
17
Binding of pemphigus vulgaris IgG to antigens in desmosome core domains excludes immune complexes rather than directly splitting desmosomes. (20222919)
2010
18
Desquamative esophagitis due to pemphigus vulgaris. (21086254)
2010
19
Targeted immunotherapy with rituximab leads to a transient alteration of the IgG autoantibody profile in pemphigus vulgaris. (20671975)
2010
20
Autoimmunity to desmocollin 3 in pemphigus vulgaris. (20952584)
2010
21
An imbalance in Akt/mTOR is involved in the apoptotic and acantholytic processes in a mouse model of pemphigus vulgaris. (19552768)
2009
22
Loss of the desmosomal protein perp enhances the phenotypic effects of pemphigus vulgaris autoantibodies. (19158843)
2009
23
Prevalence of non-organ-specific autoantibodies in patients with pemphigus vulgaris. (19298776)
2009
24
Cleavage of desmoglein 3 can explain its depletion from keratinocytes in pemphigus vulgaris. (18505410)
2008
25
CD4+CD25high regulatory T cells are markedly decreased in blood of patients with pemphigus vulgaris. (17377382)
2007
26
Treatment of refractory pemphigus vulgaris with anti-CD20 monoclonal antibody (rituximab): five cases. (17538808)
2007
27
Rituximab therapy in severe juvenile pemphigus vulgaris. (18038698)
2007
28
Pemphigus vulgaris and pemphigus foliaceus: similar prognosis? (17822493)
2007
29
Synergistic actions of pemphigus vulgaris IgG, Fas-ligand and tumor necrosis factor-alpha during induction of basal cell shrinkage and acantholysis. (17101499)
2006
30
Preliminary data on Pemphigus vulgaris treatment by a proteomics-defined peptide: a case report. (17062151)
2006
31
Simultaneous onset of pemphigus vulgaris in two Turkish siblings. (15863864)
2005
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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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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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
49.6JUP, DSP
59.6JUP, DSP
6
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I59
8.8DSP, HLA-G, DSG1

Compounds for genes affiliated with Pemphigus Vulgaris

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Compounds related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rituximab44 50 1211.6DSG1, TNFSF13B
2ryanodine44 29 6011.3DSP, JUP
3sucrose44 25 1211.2JUP, DSP, DSG1
4calcium44 50 25 129.4CCL17, 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/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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Sources for Pemphigus Vulgaris

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet