MCID: MCS003
MIFTS: 44

Mucous Membrane Pemphigoid malady

Skin diseases category

Summaries for Mucous Membrane Pemphigoid

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

MalaCards: Mucous Membrane Pemphigoid, also known as pemphigoid, benign mucous membrane, is related to cicatricial pemphigoid and pemphigus, and has symptoms including functional anomalies of the genital system, enanthema/aphtosa/aphta/leukoplakia and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. An important gene associated with Mucous Membrane Pemphigoid is ITGB4 (integrin, beta 4), and among its related pathways are Anchoring fibril formation and Apoptotic cleavage of cell adhesion proteins. The compounds estrogen and nickel have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are respiratory system and renal/urinary system.

Description from OMIM:46 164185

Aliases & Classifications for Mucous Membrane Pemphigoid

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Sources:
48Orphanet, 46OMIM, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
mucous membrane pemphigoid:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

mucous membrane pemphigoid 48 46
pemphigoid, benign mucous membrane 60
mucosynechial pemphigoid 48
cicatricial pemphigoid 48
mucosal pemphigoid 48


External Ids:

SNOMED-CT via Orphanet57 34250006
OMIM46 164185
ICD10 via Orphanet26 L12.1

Related Diseases for Mucous Membrane Pemphigoid

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mucous Membrane Pemphigoid via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1cicatricial pemphigoid31.2LAMC2, CD79A, ITGA6, ITGB4, COL17A1
2pemphigus31.1CD79A, CDH3, DSG1
3esophagitis31.0IL13
4ocular cicatricial pemphigoid30.8ITGA6, ITGB4
5bullous pemphigoid30.8LAMC2, LAMB3, IL13, CD79A, IGHE, DSG1
6lichen planus30.7LAMC2, COL17A1
7epidermolysis bullosa30.7LAMC2, LAMB3, ITGA6, ITGB4, COL17A1
8epidermolysis bullosa acquisita30.6LAMC2, CD79A, DSG1, ITGB4, COL17A1
9conjunctivitis30.5IGHE, CD79A
10leukemia30.5CD79A, ITGA6
11thyroiditis30.3CD79A
12prostatitis30.3CD79A
13ovarian cancer30.3CDH1
14diphtheria30.3IL13, CD79A
15tetanus30.3IL13, CD79A
16pancreatic cancer30.3ITGB4, ITGA6, CDH1, CDH3
17adenocarcinoma30.3LAMC2, CDH3, CDH1, ITGA6, ITGB4
18squamous cell carcinoma30.2COL17A1, ITGB4, ITGA6, DSG1, CDH1, CDH3
19herpes gestationis30.1COL17A1
20dermatitis herpetiformis30.1CD79A, HLA-DQB1
21keratoconjunctivitis30.1IL13
22nephrotic syndrome30.1CD79A, IL13
23dermatitis30.1IL13, CD79A, IGHE, DSG1
24gingivitis10.7
25periodontitis10.6
26laryngitis10.6
27stevens-johnson syndrome10.5
28arthritis10.5
29rheumatoid arthritis10.5
30cataract10.5
31cicatricial entropion10.4
32entropion10.4
33graft versus host disease10.4
34corneal ulcer10.3
35keratitis10.3
36brunsting-perry syndrome10.3
37conjunctiva squamous cell carcinoma10.2
38erythema multiforme10.2
39primary biliary cirrhosis10.2
40wegener's granulomatosis10.2
41sclerosing cholangitis10.2
42acute leukemia10.2
43cholangitis10.2
44chronic conjunctivitis10.2
45chronic lymphocytic leukemia10.2
46connective tissue disease10.2
47gingival disease10.2
48hepatocellular carcinoma10.2
49herpes simplex10.2
50hypertension10.2

Graphical network of the top 20 diseases related to Mucous Membrane Pemphigoid:



Diseases related to mucous membrane pemphigoid

Clinical Features for Mucous Membrane Pemphigoid

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

164185

Clinical synopsis from OMIM:

164185

Symptoms:

48 (show all 9)
  • functional anomalies of the genital system
  • enanthema/aphtosa/aphta/leukoplakia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • abnormal scarring/cheloids/hypertrophic scars
  • autoimmunity/autoimmune reaction/autoantibodies
  • gingivitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • visual loss/blindness/amblyopia
  • corneal clouding/opacity/vascularisation

Drugs & Therapeutics for Mucous Membrane Pemphigoid

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mucous Membrane Pemphigoid

Drug clinical trials:

Search ClinicalTrials for Mucous Membrane Pemphigoid

Search NIH Clinical Center for Mucous Membrane Pemphigoid

Search CenterWatch for Mucous Membrane Pemphigoid

Genetic Tests for Mucous Membrane Pemphigoid

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Anatomical Context for Mucous Membrane Pemphigoid

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Sources:
32MalaCards
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MalaCards organs/tissues related to Mucous Membrane Pemphigoid:

32
Skin

Animal Models for Mucous Membrane Pemphigoid or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mucous Membrane Pemphigoid:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1HLA-DQB1, ITGB4, ITGA6, LAMC2
2MP:00053678.9LAMC2, CD79A, ITGA6, ITGB4, HLA-DQB1
3MP:00053817.6HLA-DQB1, ITGB4, ITGA6, CDH1, IL13, LAMB3
4MP:00107717.4LAMC2, COL17A1, ITGB4, ITGA6, CDH1, CDH3
5MP:00053876.9COL17A1, HLA-DQB1, ITGB4, ITGA6, IGHE, CDH1
6MP:00107686.2COL17A1, HLA-DQB1, ITGB4, ITGA6, CDH1, IL13

Publications for Mucous Membrane Pemphigoid

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Genetic Variations for Mucous Membrane Pemphigoid

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Expression for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucous Membrane Pemphigoid

Search GEO for disease gene expression data for Mucous Membrane Pemphigoid.

Pathways for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LAMC2, LAMB3
29.6CDH1, DSG1
39.4LAMC2, LAMB3, ITGA6
4
Immune response NFAT in immune response
Hide members
9.3CD79A, IGHE, HLA-DQB1
5
Hide members
9.1LAMC2, LAMB3, ITGA6, ITGB4
6
Hide members
9.1ITGB4, ITGA6, LAMB3, LAMC2
79.1ITGB4, ITGA6, LAMB3, LAMC2
8
Cell adhesion ECM remodeling
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9.1CDH1, LAMB3, LAMC2
99.0COL17A1, ITGB4, ITGA6, CDH1
10
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8.9HLA-DQB1, ITGB4, ITGA6, CDH1
118.9CDH3, CDH1, ITGA6, ITGB4
128.8LAMC2, LAMB3, ITGA6, ITGB4, COL17A1
13
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8.8COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
14
Hide members
8.8COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
158.7HLA-DQB1, ITGA6, CDH1, CDH3
168.7ITGA6, CDH1, LAMB3, LAMC2
17
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8.5COL17A1, ITGB4, ITGA6, CD79A, LAMB3, LAMC2
18
Hide members
8.5ITGB4, ITGA6, CDH1, LAMB3, LAMC2
19
Hide members
8.5HLA-DQB1, ITGA6, IL13, LAMB3, LAMC2
20
Hide members
8.1ITGB4, ITGA6, CDH1, CDH3, LAMB3, LAMC2
218.0COL17A1, ITGB4, ITGA6, EIF6, LAMB3, LAMC2
22
Hide members
7.8COL17A1, ITGB4, ITGA6, CDH1, CDH3, LAMB3

Compounds for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1estrogen4410.4CD79A
2nickel44 2411.4IL13
3ovomucoid4410.3IGHE
4gliadin4410.1CD79A, IGHE
5unicap4410.0IGHE, CD79A
6sodium cromoglycate4410.0CD79A, IGHE
7trimellitic anhydride449.8IL13, IGHE
8methyltetrahydrophthalic anhydride449.8IL13, IGHE
9omalizumab44 1110.8IGHE, IL13
10ivig449.7CD79A, IGHE, DSG1
11desloratadine44 1110.7IL13, IGHE
12rituximab44 49 1111.7IL13, CD79A, DSG1
13praziquantel44 1110.5IL13, CD79A, IGHE
14penicillin449.5IGHE, CD79A, IL13
15kalinin449.5LAMC2, LAMB3, ITGA6, ITGB4
16salbutamol44 49 28 11 2413.5IGHE, CD79A, IL13
17methacholine44 1110.5IL13, CD79A, IGHE
18allergens449.5IGHE, CD79A, IL13
19montelukast44 49 28 1112.4IL13, IGHE
20prednisolone44 28 1111.4IGHE, CD79A, IL13
21inositol449.4IL13, CD79A, IGHE
22silicone449.4CD79A, IGHE
23thyroxine44 2410.3IL13, CD79A, IGHE
24carbachol44 28 1111.3IL13, CD79A, CDH1
25hyaluronic acid44 2410.2IL13, CD79A, CDH1
26tarc449.2IGHE, CDH1, IL13
27acetylcholine44 49 28 11 2413.2DSG1, IGHE, CD79A, IL13
28sucrose44 11 2411.2IL13, CDH1, DSG1, COL17A1
29mannose449.1CDH1, CD79A, IL13
30methotrexate44 49 1111.1ITGA6, IGHE, CDH1, CD79A
31folate448.9CD79A, CDH1, IGHE
32histamine44 28 2410.8IL13, CD79A, CDH1, IGHE
33lactate448.8IGHE, CDH1, CD79A, IL13
34glutamine448.7IL13, CDH1, IGHE, HLA-DQB1
35heparin44 28 11 2411.5IGHE, CDH1, CD79A, IL13
36aspartate448.5IL13, CDH1, IGHE, HLA-DQB1
37retinoic acid44 249.1ITGB4, ITGA6, DSG1, IGHE, CDH1, CD79A
38vegf447.8ITGA6, IGHE, CDH1, CD79A, IL13, EIF6
39tyrosine447.3COL17A1, HLA-DQB1, ITGB4, ITGA6, CDH1, CDH3

GO Terms for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
16Gene Ontology
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Cellular components related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal plasma membraneGO:0099259.9ITGA6, ITGB4
2laminin-5 complexGO:0056109.8LAMC2, LAMB3
3hemidesmosomeGO:0300569.8ITGA6, ITGB4, COL17A1
4basement membraneGO:0056049.7COL17A1, ITGB4, ITGA6
5integrin complexGO:0083059.6ITGA6, ITGB4
6external side of plasma membraneGO:0098979.2ITGA6, CD79A, IL13
7plasma membraneGO:0058867.6COL17A1, HLA-DQB1, ITGB4, ITGA6, DSG1, CDH1

Biological processes related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1filopodium assemblyGO:0468479.9ITGA6, ITGB4
2cell-matrix adhesionGO:0071609.7ITGA6, ITGB4, COL17A1
3epidermis developmentGO:0085449.4COL17A1, LAMB3, LAMC2
4hemidesmosome assemblyGO:0315819.0COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
5extracellular matrix organizationGO:0301988.9COL17A1, ITGB4, ITGA6, LAMB3, LAMC2
6cell adhesionGO:0071558.9ITGB4, CDH3, LAMB3, LAMC2
7homophilic cell adhesionGO:0071568.9CDH3, CDH1, DSG1
8cell junction assemblyGO:0343298.0LAMC2, LAMB3, CDH3, CDH1, ITGA6, ITGB4

Molecular functions related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:0452959.6CDH1, DSG1

Products for genes affiliated with Mucous Membrane Pemphigoid

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucous Membrane Pemphigoid

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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