MCID: PMP005
MIFTS: 47

Pemphigus Vulgaris malady

Skin diseases category

Summaries for Pemphigus Vulgaris

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Pemphigus Vulgaris is related to pemphigus and bullous pemphigoid, and has symptoms including weight loss/loss of appetite/break in weight curve/general health alteration, autoimmunity/autoimmune reaction/autoantibodies and immunodeficiency/increased susceptibility to infections/recurrent infections. An important gene associated with Pemphigus Vulgaris is DSG1 (desmoglein 1), and among its related pathways are Rho Family GTPases and Hypertrophic cardiomyopathy (HCM). The compounds endotoxin and asulam have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are hematopoietic system and integument.

Wikipedia:63 Pemphigus vulgaris is a chronic blistering skin disease with skin lesions that are rarely pruritic, but... more...

Description from OMIM:46 169610

Aliases & Classifications for Pemphigus Vulgaris

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 30LifeMap Discovery™, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

pemphigus vulgaris 42 44 48 46 30 60


External Ids:

OMIM46 169610
ICD10 via Orphanet26 L10.0
SNOMED-CT via Orphanet57 49420001
UMLS via Orphanet61 C0030809
ICD1025 L10.0

Related Diseases for Pemphigus Vulgaris

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Sources:
17GeneCards, 18GeneDecks
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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 163)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus32.2CDH3, DSG2, DSG1, DSC3, DSG3, DSG4
2bullous pemphigoid31.0EVPL, DSP, PPL
3gingivitis30.7IL1A
4esophagitis30.6CCL11
5lichen planus30.6CXCL9, DSG3, IVL
6thyroiditis30.5CIITA, HLA-DRB1
7sarcoma30.5EVPL, DSG1, FCER2, PPL, DSP, JUP
8squamous cell carcinoma30.5JUP, DSC3, CDH3, PPL, IVL, DSP
9psoriasis30.5CDH3, FCER2, CCL11, CCL17, HLA-DRB1, HLA-G
10skin disease30.5CXCL9, HLA-DRB1, IL1A
11myasthenia gravis30.3TNFSF13B
12silicosis30.3IL1A, DSG1
13hailey-hailey disease30.3CDH3, DSP, JUP, IVL
14thymoma30.3IL1A, EVPL, PPL, DSP
15rheumatoid arthritis30.3CIITA, HLA-DRB1
16arthritis30.3CXCL9, CIITA, IL1A, HLA-DRB1, FCER2
17pemphigus vegetans30.1DSG1
18epidermolysis bullosa30.1DSP
19bronchiolitis obliterans30.1PPL
20erythema multiforme30.1DSP
21bronchiolitis30.1CCL11, FCER2
22bullous skin disease30.1DSG3, EVPL, DSG1
23hypotrichosis30.1DSG4
24dermatomyositis30.1IL1A
25adenocarcinoma30.1CDH3, DSC3, HLA-G, IVL, DSG3, JUP
26dermatitis30.1IVL, DSG1, IL1A, CXCL9, CCL17, DSG3
27systemic lupus erythematosus30.1TNFSF13B, HLA-DRB1, FCER2, CIITA
28melanoma30.1JUP, DSG1, IL1A, CXCL9, CDH3, CCL11
29paronychia10.4
30herpes simplex10.4
31pemphigus vulgaris, familial10.4
32autoimmune thyroiditis10.3
33folliculitis10.3
34cicatricial pemphigoid10.3
35nocardiosis10.3
36kaposi's sarcoma10.3
37lupus erythematosus10.3
38periodontitis10.3
39acanthosis nigricans10.2
40eczema herpeticum10.2
41pharyngitis10.2
42alopecia10.2
43meningitis10.2
44papilloma10.2
45vaginitis10.2
46strongyloidiasis10.1
47cryoglobulinemia10.1
48perinephritis10.1
49hyperprolactinemia10.1
50cellulitis10.1

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



Diseases related to pemphigus vulgaris

Clinical Features for Pemphigus Vulgaris

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

169610

Clinical synopsis from OMIM:

169610

Symptoms:

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

Drugs & Therapeutics for Pemphigus Vulgaris

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Pemphigus Vulgaris

Drug clinical trials:

Search ClinicalTrials for Pemphigus Vulgaris

Search NIH Clinical Center for Pemphigus Vulgaris

Search CenterWatch 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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Sources:
32MalaCards
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MalaCards organs/tissues related to Pemphigus Vulgaris:

32
Skin

Animal Models for Pemphigus Vulgaris or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Pemphigus Vulgaris:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.1CIITA, HLA-G, TNFSF13B, CCL11, DSG4, DSG3
2MP:001077110.0DSG4, DSG3, CDH3, EVPL, JUP
3MP:00053879.8FCER2, JUP, CCL11, CCL17, TNFSF13B, HLA-G

Publications for Pemphigus Vulgaris

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Genetic Variations for Pemphigus Vulgaris

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Expression for genes affiliated with Pemphigus Vulgaris

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Sources:
1BioGPS, 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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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 53Reactome
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Pathways related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4CDH3, CCL17
2
Hide members
10.3DSG2, DSP, JUP
310.3JUP, DSP, CDH3
410.3EVPL, DSP, PPL
510.3IL1A, HLA-DRB1, TNFSF13B
610.3FCER2, CCL17, CCL11
710.3CCL11, CCL17, CXCL9
810.3FCER2, IL1A, HLA-DRB1
9
Hide members
10.3DSP, DSG3, DSG1, DSG2
1010.3DSG2, DSG1, DSG3, DSP
11
Hide members
10.3HLA-DRB1, HLA-G, CIITA, IL1A
12
Hide members
10.3IL1A, CIITA, HLA-G, HLA-DRB1
13
Hide members
10.2DSG2, DSG1, DSG3, DSP, HLA-G
14
Hide members
10.2CCL11, CCL17, TNFSF13B, CXCL9, IL1A
15
Hide members
10.2CCL11, CCL17, TNFSF13B, CXCL9, IL1A
16
Hide members
10.2CCL11, TNFSF13B, HLA-DRB1, HLA-G, CIITA, IL1A
17
Hide members
10.2JUP, CCL11, CCL17, TNFSF13B, CXCL9, IL1A

Compounds for genes affiliated with Pemphigus Vulgaris

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Pemphigus Vulgaris according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1endotoxin4410.8CIITA
2asulam4410.7DSP, PPL
3pge24410.7CCL11
4roxithromycin44 28 1112.7IL1A, CCL17, CCL11
5rantes4410.7CCL11, CIITA, IL1A
6groalpha4410.6CCL11, CXCL9, IL1A
7tarc4410.6CCL11, CCL17, CXCL9, IL1A
8ccl344 2811.6CCL11, CCL17, CXCL9, IL1A
9il 104410.6IL1A, CXCL9, CCL17
10sucrose44 11 2412.6DSG1, DSP, CIITA, JUP
11ivig4410.6DSG3, DSG1, IL1A
12ionomycin4410.6CCL11, CXCL9, IL1A, FCER2
13dexamethasone44 49 28 1113.6JUP, CCL11, CCL17, CIITA, CXCL9, FCER2
14toxin a4410.6DSG1, DSG3
15allergens4410.6CCL11, CCL17, HLA-DRB1, CIITA, IVL, FCER2
16ccl444 2811.6CXCL9, CCL17, CCL11
17neopterin4410.5FCER2, IL1A, HLA-G
18thymidine44 2411.5CCL11, TNFSF13B, CIITA, IVL, IL1A, FCER2
19cyclosporin a44 28 5912.5CCL11, CCL17, CIITA, IVL, IL1A
20retinoic acid44 2411.5JUP, CCL11, IVL, DSP, DSG1, IL1A
21nitric oxide44 11 2412.5CCL11, CCL17, CIITA, CDH3, CXCL9, IL1A
2212-o-tetradecanoylphorbol 13-acetate4410.5IVL, DSP, IL1A, FCER2
23vegf4410.4JUP, CCL11, HLA-G, IVL, CXCL9, IL1A
24leukotriene b444 59 2412.4CCL11, IL1A, FCER2
25serine4410.4JUP, CIITA, IVL, DSP, DSG3, DSG1
26sb 20358044 5911.4FCER2, IL1A, IVL, CCL11
27histamine44 28 2412.3FCER2, CXCL9, CCL11, JUP
28sodium dodecylsulfate4410.3CIITA, IVL, IL1A
29tyrosine4410.3JUP, CCL11, HLA-DRB1, CIITA, IVL, DSP
30glatiramer acetate44 1111.3HLA-DRB1, CIITA
31oligonucleotide4410.2IVL, CIITA, HLA-G, HLA-DRB1, JUP
32calcium44 49 11 2413.1FCER2, JUP, CCL11, CCL17, TNFSF13B, HLA-G
33gold sodium thiomalate4410.1HLA-DRB1, IL1A

GO Terms for genes affiliated with Pemphigus Vulgaris

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:00591110.3DSG2, DSG1, DSC3, JUP
2desmosomeGO:03005710.1EVPL, JUP, PPL, DSP, DSG4, DSG3
3cornified envelopeGO:00153310.0IVL, DSP, EVPL
4plasma membraneGO:0058869.8HLA-G, HLA-DRB1, PPL, TNFSF13B, JUP, DSP

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell to Purkinje myocyte communicationGO:08606910.6JUP, DSP, DSG2
2regulation of ventricular cardiac muscle cell action potentialGO:08600510.6DSG2, DSP, JUP
3regulation of heart rate by cardiac conductionGO:08609110.6JUP, DSP, DSG2
4cellular component disassembly involved in execution phase of apoptosisGO:00692110.6DSG2, DSG1, DSG3, DSP
5keratinocyte differentiationGO:03021610.5IVL, DSP, DSG4, EVPL
6peptide cross-linkingGO:01814910.5IVL, DSP, EVPL
7adherens junction organizationGO:03433210.5CDH3, DSP, JUP
8homophilic cell adhesionGO:00715610.5CDH3, DSG2, DSG1, DSC3, DSG3, DSG4
9keratinizationGO:03142410.5PPL, IVL, EVPL
10immune responseGO:00695510.4CCL11, CCL17, TNFSF13B, HLA-DRB1, CIITA, CXCL9
11interferon-gamma-mediated signaling pathwayGO:06033310.4HLA-DRB1, HLA-G, CIITA
12cytokine-mediated signaling pathwayGO:01922110.4IL1A, CIITA, HLA-G, HLA-DRB1
13cell-cell adhesionGO:01633710.4DSG1, DSP, JUP
14chemotaxisGO:00693510.3CXCL9, CCL17, CCL11
15inflammatory responseGO:00695410.2CCL11, CCL17, CXCL9, IL1A
16apoptotic processGO:0069159.9DSP, DSG3, DSG1, DSG2, IL1A

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

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:04529510.4DSG1, DSC3
2chemokine activityGO:00800910.3CXCL9, CCL17, CCL11
3calcium ion bindingGO:00550910.3CDH3, DSG4, DSG3, DSC3, DSG1, DSG2
4protein binding, bridgingGO:03067410.2IVL, DSP, EVPL
5structural molecule activityGO:00519810.0EVPL, DSP, IVL, JUP

Products for genes affiliated with Pemphigus Vulgaris

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pemphigus Vulgaris

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet